Property Summary

NCBI Gene PubMed Count 645
PubMed Score 893.13
PubTator Score 4075.98

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Familial hypercholesterolemia 3

Expression

  Differential Expression (26)

Disease log2 FC p
pancreatic cancer 2.900 1.2e-02
psoriasis 2.700 6.0e-06
osteosarcoma 2.541 1.3e-03
non diabetic and post-ischemic heart fai... -1.300 2.2e-03
type II diabetes mellitus and post-ische... -1.100 2.3e-02
atypical teratoid / rhabdoid tumor 1.200 1.0e-03
glioblastoma 1.300 2.2e-02
primary pancreatic ductal adenocarcinoma 3.000 1.3e-02
non-small cell lung cancer -1.255 9.7e-09
Hydrolethalus syndrome -1.427 2.2e-02
lung cancer -4.600 5.3e-06
sarcoidosis -1.300 4.8e-02
cystic fibrosis 1.200 1.6e-03
lung adenocarcinoma -1.400 6.0e-12
group 4 medulloblastoma -1.300 1.7e-03
primary Sjogren syndrome -1.700 6.8e-04
pancreatic carcinoma 1.100 8.5e-03
invasive ductal carcinoma -1.788 6.4e-03
lung carcinoma -3.000 1.3e-27
spina bifida -2.250 4.0e-02
ductal carcinoma in situ 1.200 2.5e-02
ulcerative colitis 1.500 1.9e-03
ovarian cancer 1.100 4.1e-02
Breast cancer 1.200 1.4e-04
Gaucher disease type 1 -1.700 2.8e-02
chronic rhinosinusitis -1.880 1.5e-02

Gene

PDB

2M7P   1AJJ   1D2J   1F5Y   1F8Z   1HJ7   1HZ8   1I0U   1IJQ   1LDL   1LDR   1LRX   1N7D   1XFE   2FCW   2KRI   2LGP   2MG9   2W2M   2W2N   2W2O   2W2P   2W2Q   3BPS   3GCW   3GCX   3M0C   3P5B   3P5C   3SO6   4NE9  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 CSPA Cell Line (4)

Gene RIF (547)

PMID Text
27015087 Three polymorphisms in the 3' UTR region of LDLR, c.*52G>A, c.*504G>A, and c.*773A>G, and two at the 5' UTR region of PCSK9, c.-3383C>G and c.-2063A>G, were associated with response to Armolipid Plus
26892126 genetic confirmation of ADH may be important to identify patient's risk of CHD, especially for female LDLR mutation carriers
26820623 LDLR gene is a new susceptibility gene associated with the development of thrombosis in antiphospholipid antibodies carriers.
26721317 de novo mutation of the LDL receptor gene as the cause of familial hypercholesterolemia
26719329 Data suggest inducible expression of IDOL is subject to robust, rapid regulation by process that is sensitive to deubiquitinase inhibition in human/mouse cell lines and primary human cells; transcriptional induction of IDOL leads to degradation of LDLR.
26688439 A recurrent frameshift mutation in LDLR gene causing familial hypercholesterolemia was identified in 9 probands and their relatives.
26666640 Identify USP2 as a novel regulator of lipoprotein clearance owing to its ability to control ubiquitylation-dependent degradation of the LDLR by IDOL.
26608663 This study aimed to perform a systematic review of LDLR mutations in China.
26601593 Specifically, loss of IDOL increases LDLR distribution in the hepatic cell, and subsequently reduces serum LDL-C levels in dyslipidemic patients.
26526611 Mg(++), at high concentration in the endosome, favors the formation of the closed conformation by replacing the structuring effect of Ca(++) in LR5
26523989 miR-185 controls cholesterol homeostasis as a key posttranscriptional LDLR modulator in hepatic cells, providing novel insight into the regulatory mechanism for LDLR expression and the anti-atherosclerosis effect of miR-185-inhibitor.
26494968 LDL receptor gene polymorphisms play a role in the treatment response of hepatitis C and the modulation of disease progression in Egyptians infected with chronic HCV.
26443862 studies identify a novel PPRE-mediated regulatory mechanism for LDLR transcription and suggest that combined treatment of statin with PPARdelta agonists may have advantageous effects on LDLR expression.
26427613 patients with a null LDLR mutation had: higher baseline LDL-C, higher LDL-C after drug therapy--{REVIEW}
26345093 analysis of LDLR mutations in familial hypercholesterolemia patients in the Saudi population
26342331 in well characterized FCHL individuals, variants in LDLR and LPL provide a small contribution to dyslipidemia
26327206 demonstrates that sequence variants that disrupt the LDL receptor can lower non-HDL-C and protect against CAD
26318398 MicroRNA-27a has a role in decreasing the level and efficiency of the LDL receptor and contributes to the dysregulation of cholesterol homeostasis
26220972 Mutation p.L799R in the LDLR should be considered a member of a separate class of Familial Hypercholesterolemia-causing mutations that affects the insertion of the LDLR in the cell membrane.
26195630 LDLR was not required for the degradation of CD81 by PCSK9, but its presence strengthened the PCSK9 effect.
26131702 the most frequent LDLR genotype in dyslipidemia was AA.
26085104 We conclude that PCSK9 enhances the degradation of the LDLR independently of either APLP2 or sortilin both ex vivo and in mice.
26077743 Intron mutation in LDLR is responsible for severe hypercholesterolaemia in a Chinese family.
26068142 Levels of FGF21 are not different in patients with and without LDLR mutations, which suggests that decreased LDLR expression does not have a negative effect on FGF21 levels.
25913303 PCSK9 is required for supratranscriptional upregulation of LDLR by estradiol.
25911080 One novel (c.64del G) and 12 known mutations were found in the LDLR gene. Mutation of p.C308Y was the most common and was found in 26% of the studied alleles
25846081 first reported two unique mutations (c.2000_2000 delG/p.C667LfsX6 and c.605T>C/p.F202S) in LDLR gene.
25839937 Next generation sequencing results identify seven deleterious variants in LDLR, APOB and PCK9 genes highly associated with familial hypercholesterolemia.
25778403 LDLR plays a role in Lp(a) catabolism and that this process can be modulated by PCSK9
25775905 13 mutations were identified in low density lipoprotein receptor gene, 7 of them are reported for the first time in Familial hypercholesterolemia patients in Kareliya,Russia.
25647241 Importantly, considering experimental data refined the risk of rare LDLR allele carriers from 4.5- to 25.3-fold for high LDL-C, and from 2.1- to 20-fold for early-onset myocardial infarction.
25624525 LDLR gene synonymous mutation c.1813C>T results in mRNA splicing variation in a kindred with familial hypercholesterolaemia
25545329 Report LDL receptor missense variants located in the cysteine-rich repeats altering activity.
25488447 Our results show that though leptin stimulates LDLR expression very weakly through JAK-STAT signaling pathway, it mainly imposes inhibition on LDLR expression by inhibiting transcription factor SREBP2
25463123 analysis of LDLR mutations in familial hypercholesterolemia in Greek children and their families
25459919 No relationship of anti-ox LDL level with cognition, hypertension, metabolic syndrome, inflammation indicators and serum lipid levels was observed.
25448985 hypoxia induces VLDLr expression
25437892 In Finland, at least 1 in 600 individuals is estimated to have familial hypercholesterolemia. A marked undertreatment of FH was observed in LDLR mutation carriers.
25414273 LDLR p.G116S is thus unique: a common dysfunctional variant in Inuit whose large effect on LDL cholesterol may have public health implications
25378237 Findings emphasize the importance of characterizing LDLR pathogenic variants to provide an indisputable familial hypercholesterolemia diagnosis and to gain insight into the statin response depending on the LDLR class mutation.
25331956 Numb specifically regulates NPC1L1-mediated cholesterol absorption both in human intestine and liver, distinct from ARH and Dab2, which selectively participate in LDLR-mediated LDL uptake.
25248394 functional assays suggest that c.-101T>C and c.-121T>C promoter variants cause hypercholesterolaemia, whereas c.-13A>G variant is benign, and the status of c.-215A>G remains unclear.
25234566 the c.1055G>A mutation in the LDLR gene in familial hypercholesterolemia
25231171 Transmission of LDLR mutation from donor through liver transplantation results in hypercholesterolemia in the recipient.
25194536 Homozygous mutation C255S in Exon 5 of LDLR gene was found in a family with homozygous familial hypercholesterolemia.
25188588 LDLR gene SNPs rs688 and rs5925 and their haplotypes may alter the splicing efficiency of exons 12 and 13.
25164566 curcumin enhanced LDL receptor (LDLR) level on the cell surface, as well as LDLR activity; however, LDLR transcription and mRNA stability were not affected
25134189 Variant with the LDLR gene conferred susceptibility to CAD in an obese group.
25110901 Further study of PCSK9 regulatory mechanisms may identify additional control points for pharmacological inhibition of PCSK9-mediated LDLR degradation.
25015123 An increased shedding of LDLR followed Abeta exposure in human brain endothelial cells. When Abeta was co-treated with each apoE isoform, Abeta-induced shedding was reduced with apoE2 and apoE3. Lipoprotein receptor shedding in the presence of apoE4 increased.
24902015 homozygote genotypes of rs1122608 (P<0.0001), rs4300767 (P<0.005) and rs10417578 (p<0.007) SNPs have strong protective effects on the CAD.
24900971 LDLR rs2228671-T allele frequency was rare.
24798328 Low density lipoprotein receptor class A repeats are O-glycosylated in linker regions
24708769 The T-allele at the g.3131 T > C single nucleotide polymorphism in LDLR promoter is associated with LDL-cholesterol levels.
24671153 This study identified two LDLR mutations in Chinese patients with familial hypercholesterolemia.
24640556 RXFP1, is a complex G-protein coupled receptor (GPCR) and has a rhodopsin-like 7 transmembrane helix region and a large ecto-domain containing Leucine-rich repeats and a Low Desnsity Lipoprotein Class-A module at the N-terminus.
24632281 The risk of cardiovascular disease in familial hypercholesterolemia patients is higher in those carrying a receptor-negative mutation in the LDLR gene.
24553484 SNP genotype of PNPLA3 and LDL receptor did not have a significant impact on therapeutic outcomes
24530906 The LDL receptor could be located at once in clathrin-coated pits and caveolae.
24529145 Our findings indicate that the presence and type of LDLR mutations influence lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia
24486405 It was demonstrated that having excess levels of PCSK9 was not sufficient to determine the number of PCSK9/LDL receptor complexes that were formed within hepatocyte-like C3A cells.
24450200 Identification of new mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk.
24447298 LDLR calcium-binding repeats (LRs), apoB and apoE3 bind at the hydrophilic convex face of LR5, forming complexes that are weakened at low [Ca(2+) ] and low pH.
24412751 LDLR-mediated LRP6 dimerization is essential for robust canonical Wnt pathway activation.
24412220 Results demonstrate that the apoE-LDLR interaction affects regional brain apoE levels, brain cholesterol, and cognitive function in an apoE isoform-dependent manner
24352472 HCV upregulates LDLR expression at both the protein and the transcript levels and that this upregulation likely contributes toward the uptake of serum lipids by infected hepatocytes.
24338390 Single nucleotide polymorphisms in exons 8 and 10 of the LDL receptor gene associated with left ventricular dysfunction.
24297394 Inflammatory stress disrupts LDL receptor negative feedback regulation induced by intracellular cholesterol in macrophages, which may promote foam cell formation.
24296664 PCSK9 trafficking in SV-589 human skin fibroblasts
24295502 THis current study aimed to investigate the potential role of rs688 in primary intracerebral hemorrhage (PICH).
24284361 Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.
24257605 Deletion of hypervariable region 1 of hepatitis C virus E2 decreased dependency on host SCARB1 and LDLR for cell entry.
24249837 We investigated the mode of inheritance of this mutation and confirmed that FH in this Omani family is due to mutation only in the LDLR and not PCSK9 and ApoB genes.
24225950 Data indicate that Pep2-8 inhibited LDL receptor binding to PCSK9 with IC50 values of 0.8 mum.
24173146 LDLR genotypes are a major genetic factor influencing hepatitis C viral load in patients infected with HCV genotypes 1 and 4.
24158514 hnRNP D is critically involved in LDLR mRNA degradation in liver tissue in vivo.
24146255 present study demonstrates that the effect of APOE E4 on cognitive function depends on age and education.
24144304 The binding of WT-Ectodomain-LDLR to pro-PCSK9 in the endoplasmic reticulum (ER) promotes autocatalytic cleavage of PCSK9, and autocatalytically cleaved PCSK9 acts as a chaperone to promote the exit of WT-Ectodomain-LDLR from the ER.
24137609 study found the two "Finnish" mutations (FH-Helsinki and FH-North Karelia)together responsible for 2/3 familial hypercholesterolemia cases in Finland were extremely rare in the Russian regions neighboring Finland
24103783 EGF-A of the LDLR is critical for PCSK9 binding at the cell surface
24046328 LDLR rs6511720 is associated with Abdominal aortic aneurysm.
24042129 LDLR SNP's distribution and genetic risk for cardiovascular disease in Azoreans (Portugal)
24025248 Results from Gene expression profiling show that LDLR, TP53, and MMP9 genes may play important roles in the development of atherosclerosis in a Malaysian study population.
23957925 TLR9 rs187084 variant homozygote GG is significantly associated with decreased late-onset risk of Alzheimer's disease after adjusting for age, gender, and ApoE epsilon4 status in a large Han Chinese population.
23754288 Data indicate that the region of complement-type repeats 2-5 in LDLR was identified as the binding site for FVIII and for alpha-2-macroglobulin receptor-associated protein (RAP).
23746537 The changes in hepatic LDLr expression following tocilizumab imply that adverse lipid changes may be a direct hepatic effect of the drug.
23733886 evidence for the existence of an LXR-IDOL-mediated internalization pathway for the LDLR that is distinct from that used for lipoprotein uptake
23675525 While PCSK9 is capable of inducing degradation of LRP-1, the latter is not an essential factor for LDLR regulation, but the LDLR effectively competes with LRP-1 for PCSK9 activity.
23669246 An familial hypercholesterolemia-causing mutation was found in 101 unrelated patients (LDLR = 54 different mutations, APOB p.(Arg3527Gln) = 10, PCSK9 p.(Asp374Tyr) = 0).
23593297 genetic polymorphisms in LDLR, APOB, PCSK9 in familial hypercholesterolemia
23589850 The LDL receptor (LDLR) serves as the major entry port of vesicular stomatitis virus and of VSV-G oat protein pseudotyped lentiviral vectors in human and mouse cells.
23588940 SNP modulating serum LDL cholesterol via APOB, LDL receptor and APOE influence the risk, activity, and severity of rheumatoid arthritis.
23564733 cells that depend upon ARH for LDL uptake can control which lipoproteins are internalized by their LDLRs through changes in nitric oxide.
23535506 Novel mutations in the LDLR and PCSK9 genes have been identified in the Pakistani patients with familial hypercholesterolemia.
23510778 This work identified a combined LDL receptor and LDLRAP1 mutation as the cause for severe familial hypercholesterolemia in a family of Turkish descent.
23509406 PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment.
23400816 Association of PCSK9 with LDL particles in plasma lowers the ability of PCSK9 to bind to cell surface LDLRs, thereby blunting PCSK9-mediated LDLR degradation.
23382078 IDOL is recruited to plasma membrane by low-density lipoprotein receptor (LDLR), promotes LDLR internalization in the absence of clathrin or caveolae, and facilitates LDLR degradation by shuttling it into the multivesicular body protein-sorting pathway
23380588 No significant risks of coronary heart disease are associated with the PCSK9 gene rs11206510 polymorphisms in a case control series of Han Chinese.
23369702 LDLR-negative mutational status has a role in subclinical CT coronary atherosclerosis in asymptomatic statin treated patients with a clinical diagnosis of familial hypercholesterolemia
23333304 HIV-1 Vif upregulates the expression of low density lipoprotein receptor (LDLR) in Vif-expression T cells
23297366 The rs688 single nucleotide polymorphism variants have two distinct mechanisms for regulating LDLR post-transcriptionally.
23162007 Case Report: familial hypercholesterolemia in an Omani family due to frameshift deletion mutation in the LDL receptor.
23155708 Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia.
23135270 Furin-cleaved proprotein convertase subtilisin/kexin type 9 (PCSK9) is active and modulates low density lipoprotein receptor and serum cholesterol levels.
23109900 Several lipid-related gene polymorphisms interact with overweight/obesity to modulate blood pressure levels.
23105118 M2 is dispensable for secretion, its presence is required for the extracellular activity of PCSK9 on cell surface LDLR.
23022896 This meta-analysis is strongly supportive of the hypothesis that the APOE e4 allele increases the risk of sporadic late onset Alzheimer;s disease.
23021490 LDLR functional assays showed that variants p.V429L, p.W490R and p.S648P of the LDLR coding sequence severely impaired receptor function, while variant p.P685S had a milder effect.
22968135 28 polymorphisms located up to 2.4 Mb from the LDLR gene were genome-wide significantly associated with familial hypercholesterolemia.
22910581 These two large rearrangements in the LDLR gene are the first to be described in the Tunisian population, increasing the spectrum of ADH-causative mutations.
22875854 analysis of loss- and gain-of-function PCSK9 variants with cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation
22848640 AnxA2 acts as an endogenous regulator of PCSK9-induced LDLR degradation
22826357 LDL receptor-mediated clearance of apoB-containing particles affects apoM plasma clearance
22716248 Gene expression profiles showed that LDLR was down-regulated in epidermolysis bullosa subtypes.
22698793 Report spectrum of LDLR mutations in Czech familial hypercholesterolemia patients.
22621231 The LDLR analysis based on the haplotypes rs688 and rs5925 was conducted in a Taiwanese population and provided preliminary evidence suggesting that genetic polymorphisms of LDLR are associated with cerebral infarction.
22597534 Dihydrotestosterone inhibits lectin-like oxidized-LDL receptor-1 expression in aortic endothelial cells via a NF-kappaB/AP-1-mediated mechanism
22554600 Resistin, at physiological levels observed in human obesity, down-regulates hepatocyte LDLR expression substantially
22544571 identified a novel mutation in exon 14 of the LDLR gene in two Malay siblings in Malaysia who were diagnosed as clinically familial hypercholesterolemia; first report of a C711Y mutation in patients with elevated cholesterol in Asia
22509010 report the crystal structure at 1.37-A resolution of the phosphotyrosine-binding (PTB) domain of ARH in complex with an LDLR tail peptide containing the FxNPxY(0) internalization signal
22487947 Data from two families in Lebanon suggest that a mutation in LDLR (2043C>A) does not have a high penetrance in familial hyperlipoproteinemia as currently believed, and could be prevalent in normocholesterolemic subjects in Lebanese population.
22425645 Gene expression experiments with LDL receptor lacking primary familial hypercholesterolemia (FH) fibroblasts, revealed that SR-BI and ABCA1 are important regulators for cholesterol acquisition in FH cells.
22417841 Within seven Tunisian families, nine subjects presented low LDL-cholesterol levels despite carrying a mutation in the LDLR gene.
22390909 Results suggest that carriers of this mutation have shorter event free survival and confirm the risk between CAD and FH
22388943 Quercetin can initiate LDLR transcription by enhancing SREBP2 processing in HepG2 cells.
22378787 Our results are consistent with an important role of FGF21 and Cnpy2/Msap in the regulation of LDLRs in cultured cells.
22353362 LDLR 986G>A, 1747C>T and APOB 10579C>T are common mutations, with combined frequency of approximately 33% in familial hypercholesterolemia patients in Taiwan.
22323290 FCHO2 regulates the size of clathrin structures, and its interaction with Dab2 is needed for LDLR endocytosis under conditions of low AP2.
22311046 a familial hypercholesterolemia family and a panel of 27 unrelated hypercholesterolemia patients were studied to identify the causative LDLR mutations
22278734 co-association of LDLR with IR and their dissociation by insulin may be an important part of the regulatory mechanism of the normal physiological receptor function in a biological system.
22275303 Essential oil of Pinus koraiensis leaves increased the expression of LDLR in HepG2 cells.
22257824 Heterozygous familial hypercholesterolemia subjects with LDL receptor mutations had a significant decrease in the removal from plasma of chylomicrons and their remnants compared with normolipidemics.
22190034 HIV-1 Vif upregulates the expression of low density lipoprotein receptor (LDLR) in Vif-expression T cells
22160468 The purpose of this investigation was to characterize a new mutation in the LDL-receptor (LDLR) gene in three families with clinically diagnosed familial hypercholesterolemia (FH) from the South-Eastern part of Poland.
22153697 Trans-resveratrol up-regulated hepatic LDLR expression via proteolytic activation of SREBP1/2.
22129472 Report a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.
22128165 LRP6 protein regulates low density lipoprotein (LDL) receptor-mediated LDL uptake.
22091758 Data suggest that the ligand affinities of 2 modules/domains of LDLR (LA4 and LA5) are enhanced when the 2 are linked (LA45). LA4 is more flexible than LA5; this may be related to its weaker calcium binding affinity.
22081141 PCSK9 seems to hold LDLR in an extended conformation and to interfere with conformational rearrangements required for LDLR recycling.
22074827 these data suggest that the ubiquitination system is involved in PCSK9-induced LDLR degradation.
22059152 EGFRvIII can promote tumor survival through PI3K/SREBP-1-dependent upregulation of LDLR.
22024489 Reductions in plasma insulin may have affected the expression of a key regulatory gene of cholesterol synthesis, HMG-CoA reductase and low-density lipoprotein receptor.
22010136 Apolipoprotein E4 does not increase coronary heart disease risk in carriers of LDLR mutations.
21990180 Three heterozygous variants of LDL receptor with a single point mutation within the low-density lipoprotein binding domain reveal one variant as nonpathogenic, and c.862G>A and c.895G>A variants as causative of familial hypercholesterolemia.
21947084 The LDL-R family is involved in trafficking and processing of amyloid precursor protein APP.
21935675 Most of the FH patients investigated carried two of these four LDLR variants simultaneously, while only one patient carried three of them simultaneously
21925044 The ARH gene encodes for the LDLR adaptor protein. This protein contains a phosphotyrosin binding domain for LDLR binding [7] and [27]. The binding of LDLR adaptor protein to LDLR is essential for the LDLR mediated endocytosis of LDL particles.
21876443 Low-density lipoprotein receptors and IL-28B genotypes had a complementary effect with respect to the plasma levels of total cholesterol and low-density lipoproteins, with no influence on plasma levels of high-density lipoproteins and triglycerides.
21872251 LDL receptor/LDLRAP1 double heterozygous mutations may account for severer phenotype in terms of xanthoma and atherosclerotic cardiovascular disease in familial hypercholesterolemia patients.
21829380 We found that in three loci (PCSK9, APOE, and LDLR) there were additional variants independently associated with LDL-C.
21777527 The point mutation on exon 3 and exon 4 of LDLR gene was the most common. PCR is useful for the detection of large re-arrangements in the LDL-receptor gene and is a rapid and reliable method for diagnosis of familial hypercholesterolemia.
21775114 DHA supplementation significantly suppressed the expression of low-density lipoprotein receptor and cathepsin L1, both of which were also up-regulated by LPS.
21765216 N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans
21763412 Phaleria macrocarpa fruit aqueous extract reduced body weight/improved blood lipid profile of hypercholesterolemic rats. The improvement is likely to be regulated by LDL receptor and PCSK9.
21757058 A combination oral contraceptive maintained a high-profile expression of LDLR through the stimulation of its transcription factor SREBP2 in primary placental trophoblasts and Jar cell line.
21734303 both the FERM and RING domains are required for promoting lysosomal degradation of the LDLR by IDOL.
21722902 in Mexico, ADH exhibits allelic heterogeneity with 5 relatively common LDLR mutations and that mutations in the APOB gene are not a common cause of ADH
21692990 measured the affinity and kinetics of binding of PCSK9 to LDLR on HepG2 cells at 4 degrees C; data suggest that PCSK9 binding to cell surface LDLR cannot be described by a simple bimolecular reaction
21685362 identify the IDOL-UBE2D complex as an important determinant of LDLR activity, and provide insight into molecular mechanisms underlying the regulation of cholesterol uptake
21606463 Deletion of Low Density Lipoprotein Receptor gene in mice leads to severely elevated lipid levels and increased atherosclerosis providing a model for type 1 diabetic macrovascular disease.
21538688 Our results indicate that mutations localized in the promoter regulatory elements R2 and R3 are associated with familial hypercholesterolemia, whereas mutations outside the LDLR response elements are not a cause of familial hypercholesterolemia.
21511053 Data suggest that the intramolecular interface plays multiple roles in LDLR function.
21473855 the 30-UTR of human LDLR mRNA is sufficient to determine the rapid turnover rate of LDLR mRNA.
21462887 LDL-R carriers with severe hypercholesterolemia have a higher carotid IMT and lower ABI than non-carriers, whereas no difference between the groups was found with respect to the level of lipid parameters and %FMD.
21461956 Polymorphisms in the LDLR, ApoE,ACE, and MTHFR genes, implicated in the pathogenesis of many diseases, including Alzheimers and myocardial infarction, were found to be prevalent in Angami and Lotha Naga populations in India. Lifestyle increase risk.
21457052 A novel nonsense mutation in LDLR correlates with familial hypercholesterolemia.
21418831 The change of amino acid Glu to Gly in LDLR is responsible for familial hypercholesterolemia in this family.
21418584 Eight gene sequence variants of LDLR were reported for the first time and they were noticed in familial hypercholesterolemic patients.
21377952 To date, about 1 741 variants have been identified in gene LDLR, among which 108 variants were identified in Chinese Familial hypercholesterolemia (FH) patients.[review]
21345210 The association of LDL-R gene Ava polymorphism and serum lipid levels is different between the Bai Ku Yao and Han populations.
21294679 LDLR repression by organelle stress via ATF3
21149300 CT domain interaction with the LBD of the LDLR at endosomal pH constitutes a second step in the PCSK9-mediated LDLR binding that leads to receptor degradation.
21115573 These results enlarge the spectrum of autosomal dominant hypercholesterolaemia -causative LDLR and PCSK9 variations in Tunisia.
20972250 Observational study of gene-disease association. (HuGE Navigator)
20971364 Observational study of gene-disease association. (HuGE Navigator)
20962452 Compound heterozygote for exon 4-12 deletion and a missense mutation in LDL Receptor gene is associated with familial hypercholesterolemia showing multiple xanthomas and advanced atherosclerosis.
20810930 Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity.
20738937 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20714348 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20703241 an aberrantly spliced mRNA containing an 81-bp insert from intron 14 caused by a novel intronic mutation, c.2140+86C>G, which activated a cryptic splice site in patients with familial hypercholesterolemia
20702785 Observational study of gene-disease association. (HuGE Navigator)
20691829 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20679960 Observational study of gene-disease association. (HuGE Navigator)
20663204 Sequence analysis of deletion and duplication breakpoints indicates that both intrachromatid non-allelic homologous recombination, and non-homologous end joining are involved in LDLR genomic rearrangements.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628808 study of association between LDL-R AvaII and NcoI polymorphisms and coronary heart disease
20628808 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20615707 This study identified a possible association between the presence of at least one V allele in MTHFR A222V and concurrent stenoses.
20602615 Observational study of gene-disease association. (HuGE Navigator)
20599862 transport defect of LDLR caused by two novel LDLR mutations, D151Y and M391T, contributes to the pathology of Familial hypercholesterolemia
20571754 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20565774 Observational study of genotype prevalence. (HuGE Navigator)
20538126 Frequency of large LDLR rearrangement was approximately 8% in Taiwanese patients with FH.
20538126 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20536507 Observational study of gene-disease association. (HuGE Navigator)
20506643 Polymorphism of LDLR changes the ratio of serum lipids in people on a high-carbohydrate/low-fat diet.
20506643 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20506408 Data show that among forty-six mutations in more than 50 untreated subjects, three were nonpathogenic: one in LDLR and two in APOB.
20498851 Locked nucleic acid antisense oligonucleotide efficiently reduced the mRNA and protein levels of PCSK9 with a concomitant increase in LDLR protein levels after transfection.
20485444 Observational study of gene-disease association. (HuGE Navigator)
20452591 analysis of the role of the LDLR mutation in familial hypercholesterolemia [case report]
20428891 Evolution of common double mutants in the human LDL receptor gene.
20416077 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20413733 LDLR 3-UTR/HMGCR haplotypes are associated with attenuated lipid-lowering response to simvastatin treatment.
20413733 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20403997 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20371611 heterogeneous nuclear ribonucleoprotein K is a transactivator for human low density lipoprotein receptor gene transcription
20308432 Observational study of gene-disease association. (HuGE Navigator)
20236128 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
20232416 Data show that SFRS13A expression was significantly associated with LDLR splicing efficiency in vivo.
20217239 This is the first report of a known LDLR gene mutation causing familial hypercholesterolemia in the Pakistani population.
20172854 PCSK9 C-terminal domain contribute to its inhibition of LDLR function mainly through its role in the cellular uptake of PCSK9 and LDLR complex.
20167577 Observational study of gene-disease association. (HuGE Navigator)
20163833 Observational study of gene-disease association. (HuGE Navigator)
20145306 Major rearrangements of the low density lipoprotein receptor gene as well as point mutations are associated with familial hypercholesterolemia.
20145306 Observational study of gene-disease association. (HuGE Navigator)
20144596 Tunisian familial hypercholesterolemia LDL receptor heterozygotes are characterized by a moderate clinical and biological expression of the disease.
20129369 Report the outomce of LDL-apheresis in homozygous LDL-receptor-defective familial hypercholesterolemia.
20129366 The LDLR mutation p.W556R is a frequent and severe defect for familial hypercholesterolemia, influencing LDL lipoprotein synthesis/catabolism.
20089850 Calcium is a crucial cofactor for low density lipoprotein receptor folding in the endoplasmic reticulum
20065615 Observational study of gene-disease association. (HuGE Navigator)
20059631 Observational study of gene-disease association. (HuGE Navigator)
20049331 data suggest that increased APP expression and Abeta exposure alters microtubule function, leading to reduced transport of LDLR to the plasma membrane
20045108 LDLR mutations have a role in familial hypercholesterolemia patients from Southern Italy
20031551 Observational study of gene-disease association. (HuGE Navigator)
20030366 Sequence alignments are used to identify regions within ligand binding clusters of LDLRs potentially capable of binding apolipoprotein (Apo)E. Avidity effects combined with this distinct recognition process likely govern the ApoE-LDLR interaction.
20019594 This study represents the first description of heterozygous mutations in the exon 4 of the LDLR in 5 unrelated patients with moderate hypercholesterolemia
20019594 Observational study of gene-disease association. (HuGE Navigator)
19956635 Uncategorized study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19948739 Differential functions of ApoER2 and very low density lipoprotein receptor in Reelin signaling depend on differential sorting of the receptors.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19906111 Cholesterol accumulation is probably due to the upregulated expression of the relevant genes in the cholesterol synthesis of the steatotic hepatocytes
19888660 Examined the associations between 21 single nucleotide polymorphisms (SNPs) of eight lipid metabolism genes and lipid levels in a Chinese population. LDLRrs1003723 was associated with total cholesterol and LDL; LDLRrs6413503 with total cholesterol.
19888660 Observational study of gene-disease association. (HuGE Navigator)
19887822 The mRNA level of LDLR is downregulated in a tumor cell line by thymomoquine.
19843101 Observational study of genetic testing. (HuGE Navigator)
19811272 We studied low-density lipoprotein receptor transcription, expression and function in leukocytes patients with SLE and normal healthy donors
19773416 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19751943 These results define the LDL-R as a hepatitis C virus (HCV) co-receptor that supports viral entry and infectivity through interaction with apoE ligand present in an infectious HCV/lipoprotein complex comprising the virion.
19729601 Observational study of gene-disease association. (HuGE Navigator)
19717150 low-density lipoprotein receptor mutational class has a role in carotid atherosclerosis in patients with familial hypercholesterolemia
19717150 Observational study of gene-disease association. (HuGE Navigator)
19706701 Data indicate that the beta-propeller attenuates the virus-stabilizing effect of LDLR binding and thereby facilitates RNA release from endosomes, resulting in the enhancement of infection.
19692168 Observational study of gene-disease association. (HuGE Navigator)
19674976 a structure-based site-directed mutagenesis approach to examine 12 residues in the extracellular domain of LDL-R for their effect on LDL binding and release
19667110 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19656773 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19589204 Haplotype-based analysis of LDLR in Taiwanese patients with cerebral infarction provided preliminary evidence suggesting that genetic polymorphisms of LDLR can modify the stroke presentation
19589204 Observational study of gene-disease association. (HuGE Navigator)
19583244 Data show that endosomal concentrations of free calcium can drive lipoprotein release at rates similar to those of acid-dependent, LDLR-based release and that the calcium-dependent and acid-dependent mechanisms can cooperate during lipoprotein release.
19578796 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19538517 Data from a cohort of 611 patients referred with suspected heterozygous familial hypercholesterolaemia (FH) from five UK lipid clinics, who were initially screened for point mutations in LDLR and the common APOB and PCSK9 mutations, is presented.
19538517 Observational study of genetic testing. (HuGE Navigator)
19533020 These observations indicate that LPS disrupts cholesterol-mediated LDL receptor feedback regulation, permitting intracellular accumulation of unmodified LDL and causing foam-cell formation.
19491387 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19479237 Observational study of gene-disease association. (HuGE Navigator)
19467224 Analysis of parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.
19411563 Results on the Portuguese FH Study showed 10 LDLR mutations, 6 of them novel.
19371225 findings show the synonymous mutation R385R converts the mutated allele to a null allele unable to produce functional mRNA
19367093 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19361455 The findings that the mutation c.313+1, G>A in the LDLR gene also generates a mutant transcript with inclusion of intron 3, explains why the mutation c.313+1, G>A may result in a severe phenotype.
19336475 Observational study of gene-disease association. (HuGE Navigator)
19336370 Observational study of gene-disease association. (HuGE Navigator)
19322023 Overexpression of peroxisome proliferator activated receptor gamma coactivator-1alpha in HepG2 cells represses the gene expression of LDL receptor and does not affect the estrogen receptor alpha -induced LDL receptor expression.
19319977 impact of PCSK9 polymorphism on LDL-cholesterol levels of FH patients carrying a same LDLR mutation
19319977 Observational study of gene-disease association. (HuGE Navigator)
19318025 Observational study of genetic testing. (HuGE Navigator)
19263529 Observational study of gene-disease association. (HuGE Navigator)
19224862 Results support the concept that pharmacological inhibition of the PCSK9-LDLR interaction extracellularly will increase hepatic LDLR expression and lower plasma low density lipoprotein levels.
19222187 The data suggest the existence of distinct conformational states in free and receptor-bound PCSK9.
19208450 18 intronic mutations in the LDLR gene were selected for comprehensive studies of their effects on pre-mRNA splicing.
19198609 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19196236 These data indicate that antibodies targeting PCSK9 can reverse the PCSK9-mediated modulation of cell-surface LDLRs.
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19148831 Nonsense mutations in the low density lipoprotein receptor (LDLR) induces nonsense-mediated mRNA decay (NMD).
19148283 Observational study of gene-disease association. (HuGE Navigator)
19141871 Data demonstrate that LDL receptor mRNA stability is controlled by a group of ARE binding proteins, including hnRNP D, hnRNP I, and KSRP.
19131662 Meta-analysis of gene-disease association. (HuGE Navigator)
19087220 polymorphisms in the 3' regulatory region of the LDLR gene are associated with CHD among African American individuals recruited from the general US population but not among white individuals in the same cohort.
19081568 PCSK9-mediated LDLR degradation is not entirely dependent on ARH function
19081415 Observational study of gene-disease association. (HuGE Navigator)
19073363 Report mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.
19062533 The spectrum of mutations in the low-density lipoprotein receptor gene in the Russian population
19062533 Observational study of gene-disease association. (HuGE Navigator)
19060911 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19056482 Observational study of gene-disease association. (HuGE Navigator)
19020990 A heterozygous p.W483X mutation of LDLR gene was identified in family A which caused a premature stop codon, while a homozygous mutation p.A627T was found in family B. The predicted secondary structures of the mutant LDLR were altered.
19007590 Observational study of gene-disease association. (HuGE Navigator)
18940289 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
18936517 JNK may play an important role in posttranscriptional control of LDL receptor expression, thus constituting a novel mechanism to enhance plasma LDL clearance by liver cells.
18851860 No statistical differences were found for LDLR C1773T distributions
18851860 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
18847225 Whereas the sedimentation coefficient for WT sLDLR increased when the pH was reduced from 7 to 5, no such change occurred in the case of the triple Lys mutant receptor or a His562Lys/His586Lys double mutant receptor.
18799458 identification of the minimal inhibitory sequence of AnxA2 should pave the way toward the development of PCSK9 inhibitory lead molecules for the treatment of hypercholesterolemia
18757057 LDLR gene mutations enrich the spectrum of mutations causing familial hypercholesterolemia in the Tunisian population
18718593 analysis of eight common LDLR mutations in the Japanese population
18718593 Observational study of gene-disease association. (HuGE Navigator)
18714375 A common variant at the LDLR gene locus affects LDL-cholesterol levels and, thereby, the risk for coronary artery disease.
18714375 Observational study of gene-disease association. (HuGE Navigator)
18701038 The LDL-R synthesis dysfunction of familial hypercholesteremia patients leads to arterial stenosis and calcification, which are the major phenotype of the clinical disorder.
18685438 Interaction of the A2 domain of F8 with LDLR follows the general mode, requires dissociation of factor VIII from von Willebrand factor, and is activation sensitive.
18677035 The epidermal growth factor homology domain of the LDL receptor drives lipoprotein release through an allosteric mechanism involving H190, H562, and H586
18676680 Observational study of gene-disease association. (HuGE Navigator)
18669884 PECAM-1 influences initiation and progression of atherosclerosis in LDL receptor deficient mice both positively and negatively, and that it does so in a site-specific manner.
18660489 Observational study of gene-disease association. (HuGE Navigator)
18635818 Report effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding.
18622260 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18513389 Observational study of gene-disease association. (HuGE Navigator)
18400033 Two variants, G186G and R385R, were found to be associated with altered splicing that cause familial hypercholesterolemia.
18376126 Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18369154 The high affinity of apoE4 to the LDLR enhances VLDL sequestration on the hepatocyte surface but delays their internalization.
18355452 study identified a novel splice mutation c.1186+1 G>A in the LDL receptor gene in a Tunisian family; it causes the utilization of a new cryptic donor splice site 51 bp downstream from the normal site
18354102 Observational study of gene-disease association. (HuGE Navigator)
18343813 analysis of oxidative folding of ligand binding module 5 of the low density lipoprotein receptor
18331356 stability upon EDTA treatment is confined to LDLR type A (LA) ligand-binding repeats 1-7
18317771 Observational study of gene-disease association. (HuGE Navigator)
18307033 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18296645 Male and female carriers of the T allele of LDLR IVS9-30C>T had a 1.5-fold risk of bile duct cancer.
18296645 Observational study of gene-disease association. (HuGE Navigator)
18288382 These findings suggest that the 3'UTR LDLR polymorphisms in the Chinese population do not cause a predisposition to the development of coronary heart disease, nor do they affect the plasma lipid levels or the cholesterol-lowering effect of berberine.
18288382 Observational study of gene-disease association. (HuGE Navigator)
18261733 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18247305 It is possible that the W462X mutation of LDLR gene is the main cause for familial hypercholesterolemia the family studied.
18243212 a low-density lipoprotein receptor mutation has a role in cardiovascular disease in familial hypercholesterolaemia
18243212 Observational study of gene-disease association. (HuGE Navigator)
18210030 Observational study of gene-disease association. (HuGE Navigator)
18206115 Observational study of genetic testing. (HuGE Navigator)
18193043 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18097620 Observational study of gene-disease association. (HuGE Navigator)
18065781 The rs688T allele is associated with decreased LDLR exon 12 splicing efficiency in aged males, but not females.
18065781 Observational study of gene-disease association. (HuGE Navigator)
18028451 REVIEW: overview of mutations reported for the LDLR gene, the APOB gene, the PCSK9 gene, resulting in ADH.
18006500 In the setting of low density lipoprotein receptor deficiency, apoM-Tg mice with approximately 2-fold increased plasma apoM concentrations developed smaller atherosclerotic lesions than controls.
17988659 The importance of allele drop-out in LDLR genotyping.
17964958 results reveal a characteristic mutation pattern of autosomal dominant hypercholesterolemia in Taiwan, mainly in the LDLR and APOB genes
17935672 2 novel mutations were identified in the LDLR gene of a family with a member suffering from severe Familial hypercholesterolemia; 1 was W165X, G > A substitution and IVS5-1G > A, was also a G > A substitution at the acceptor splice site of intron 5.
17905649 scavenger receptor class B, type I and the low-density lipoprotein receptor have roles in High-density lipoprotein-associated 17beta-estradiol fatty acyl ester uptake
17898945 Observational study of gene-disease association. (HuGE Navigator)
17898945 phlegm-dampness constitution is related with the P- and A+ allelic frequency of higher LDL-R genes at Pvu II and Ava II
17889283 Observational study of gene-disease association. (HuGE Navigator)
17855807 Observational study of gene-disease association. (HuGE Navigator)
17784865 Reduced expression of low-density lipoprotein receptor in hepatocellular carcinoma with paraneoplastic hypercholesterolemia.
17766366 Observational study of gene-disease association. (HuGE Navigator)
17709443 study provided novel evidence of an early decrease in LDLR mRNA in men and a later decrease in LRP mRNA in circulating mononuclear cells during the postprandial period
17706090 APOE epsilon 4 allele may be a latent risk factor in the development of primary glaucoma, but APOE epsilon 2 allele may play a protective role in primary open-angle glaucoma.
17625505 A novel sequence change in repeat 3 of the promoter of the low-density lipoprotein receptor gene has been identified in a female patient with familial hypercholesterolemia.
17607901 mutations in the familial hypercholesterolaemia (Review)
17566095 Observational study of gene-disease association. (HuGE Navigator)
17566095 Functional LDLR mutations occurred in 31 (60%) subjects, who received a diagnosis of familial hypercholesterolemia (FH).
17539906 Observational study of genetic testing. (HuGE Navigator)
17531953 Our data suggest that the LDLr plays a role in regulating cholesterol delivered to the baby from the placenta.
17517690 Observational study of gene-disease association. (HuGE Navigator)
17517690 the low-density lipoprotein receptor exon 12 polymorphism decreases splicing efficiency and associates with increased cholesterol
17473053 LDL-R may be one of the receptors implicated in Hepatitis C virus replication.
17452316 proprotein convertase subtilisin/kexin type 9 binding to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation
17445538 two novel mutations were identified in exon 4 of the low-density lipoprotein receptor gene in a Chinese family with clinically diagnosed autosomal genetic hypercholesterolemia
17399720 two new large deletions in familial hypercholesterolemia patients of French Canadian descent
17399720 Observational study of genotype prevalence. (HuGE Navigator)
17347910 Observational study of genetic testing. (HuGE Navigator)
17335829 analysis of rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing
17328821 PCSK9-mediated degradation of the LDLR appears to take place intracellularly and occurs even when endocytosis through clathrin-coated pits is blocked by hypertonic medium.
17277381 replacing monounsaturated with polyunsaturated fat can benefit coronary heart disease by reducing the availability of oleoyl-CoA in the substrate pool of hepatic ACAT2
17273844 Observational study of gene-disease association. (HuGE Navigator)
17273844 Thus our data shows that 3'UTR sequences that cause higher reporter gene expression in vitro are associated in Caucasians with plasma lipid profiles indicative of higher cardiovascular risk.
17239995 Observational study of gene-disease association. (HuGE Navigator)
17234631 apoE4, but not apoE3, in macrophages enhances atherosclerotic plaque development in an LDLr-dependent manner
17223614 Observational study of gene-disease association. (HuGE Navigator)
17196209 Observational study of genetic testing. (HuGE Navigator)
17196209 three new mutations of LDL receptor: G266C, T368M, and D451Y were identified in a cohort screening program in Italy
17156886 LDLR is involved at an early stage in infection of normal human hepatocytes by serum-derived HCV virions.
17142622 Observational study of genotype prevalence, gene-disease association, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17094996 LDLR mutations included 85 different point mutations (7 not previously described) and 13 different large rearrangements in familial hypercholesterolemia
17090611 Observational study of gene-disease association. (HuGE Navigator)
17090611 Results of the study indicate that LDL-C levels are a more important risk factor of event-free survival than the type of LDLR mutation.
17079229 analysis of the LDLR recognition properties of apoE
17044844 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17044844 data confirm the absence of a significant impact of the A370T polymorphism on LDL receptor function, at least as measured by the effect on plasma lipid levels and CHD risk.
16927291 Observational study of gene-disease association. (HuGE Navigator)
16920108 Data show that liver X receptor alpha regulates the low-density lipoprotein receptor gene, which mediates the endocytic uptake of LDL cholesterol in the liver.
16907851 findings support a role for LDLR in the natural infection by hepatitis C virus in humans
16837242 Observational study of gene-disease association. (HuGE Navigator)
16828076 Observational study of genetic testing. (HuGE Navigator)
16825289 Observational study of gene-disease association. (HuGE Navigator)
16809787 Amino acid sequences in the LDL receptor binding region of apolipoprotein B-100 was frequently recognized by autoantibodies that have been generated in response to breakdown products of LDL oxidation.
16806138 It's identified three novel mutations (C25X, IVS3+5G>T, D558A) and two mutations previously described (D151N, A480E) in the low-density lipoprotein receptor(LDLR)gene.
16796766 Five genomic deletions in the LDLR gene were characterized by amplification of mutated alleles and sequencing to identify genomic breakpoints in Danish familial hypercholesterolemic patients.
16792510 Observational study of genetic testing. (HuGE Navigator)
16770077 Observational study of gene-disease association. (HuGE Navigator)
16750665 PAF enhances its own receptor expression and then increases lipid accumulation by dysregulating LDL receptor regulation and inducing scavenger receptor expression in mesangial cells
16741934 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16741934 Study does not demonstrate an association between LDLR genotypes or haplotypes and Alzheimer's disease.
16650578 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16627557 Observational study of genetic testing. (HuGE Navigator)
16608402 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16596945 Observational study of genotype prevalence. (HuGE Navigator)
16465405 The mutation identified in the South American patient represents the first description of a variant in South American patients other than Brazilian Familial hypercholesterolemia patients.
16459141 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16459141 No relationship was found between LDL-R polymorphism and coronary disease in the Chinese Han population.
16389549 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
16378661 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
16289238 Observational study of gene-disease association. (HuGE Navigator)
16286607 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16286607 In familial hypercholesterolemia children, the null allele genotype was associated with a greater carotid intima-media thickness, higher HDL cholestserol levels and attenuated response to cholesterol lowering agents.
16259478 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16205024 Observational study of genotype prevalence. (HuGE Navigator)
16183066 Combined mutations in LDLR and proprotein convertase subtilisin kexin 9 are associated with a severe phenotype for premature coronary disease.
16179341 results demonstrate that the modular adaptor protein autosomal recessive hypercholesterolemia (ARH) must bind the LDLR tail and either clathrin or AP-2 to promote receptor clustering and internalization of LDL
16159606 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
16129683 ARH is an endocytic sorting adaptor that actively participates in the internalization of the LDL-LDLR complex, possibly enhancing the efficiency of its packaging into the endocytic vesicles
16092059 Observational study of gene-disease association. (HuGE Navigator)
16092059 we identified 5 missense mutations and 1 large deletion in LDLR gene, including 1 novel mutation in Han Chinese with FH in Taiwan
16020744 significance of tendon xanthomas (TX) in heterozygous subjects with familial hypercholesterolemia with LDL receptor mutation
16015283 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
16014965 HIV-1 Vif upregulates the expression of low density lipoprotein receptor (LDLR) in Vif-expression T cells
15936313 Observational study of genetic testing. (HuGE Navigator)
15931608 Clinical trial of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
15899484 Observational study of gene-disease association. (HuGE Navigator)
15899484 The genotype of the mutant LDL receptor allele was independently associated with variations in LDL-PPD and could partly explain why negative-receptor FH heterozygotes may be at greater risk of cardiovascular disease than defective-receptor FH subjects.
15890894 Observational study of genetic testing. (HuGE Navigator)
15888448 central nervous system levels of both human and murine apoE are directly regulated by LDLR
15864114 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
15863833 like the LDL receptor, LRP prefers lipid-bound forms of apoE, but in contrast to the LDL receptor, both LRP and the VLDL receptor recognize all apoE isoforms
15842735 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
15823288 Observational study of genetic testing. (HuGE Navigator)
15823280 Observational study of gene-disease association. (HuGE Navigator)
15823280 75 different LDL receptor mutations in 645 children with heterozygous familial hypercholesterolemia; in these children, null alleles were clearly associated with more elevated LDL cholesterol levels compared to receptor-defective mutations
15823276 Observational study of genotype prevalence. (HuGE Navigator)
15823276 Ten novel (including three frame shift small deletions or insertions) and seven known mutations were detected
15797858 apolipoprotein B mutation may have a role in hypobetalipoproteinemia, despite decreased binding to the low density lipoprotein receptor
15795426 Increased expression after weight loss may contribute to lower plasma ldl cholesterol and triglycerides in obese premenopausal women.
15754974 Observational study of genotype prevalence. (HuGE Navigator)
15741231 LDL receptor intracellular fate depends on the cooperation between its ligand-binding and EGF domains
15701167 Observational study of genotype prevalence. (HuGE Navigator)
15701167 Analysis of all 34 low density lipoprotein receptor gene mutations found in St.-Petersburg argues against strong founder effect in Russian familial hypercholesterolemia.
15689450 Observational study of gene-disease association. (HuGE Navigator)
15677715 Results indicate that overexpression of proprotein convertase subtilisin kexin 9 induces the degradation of the low-density lipoprotein receptor by a nonproteasomal mechanism in a post-endoplasmic reticulum compartment.
15665085 Atherosclerosis was significantly reduced in T-bet protein-deficient Ldlr-/- mice.
15637307 LDL receptor contributes significantly to the clearance of LDL from plasma but plays a lesser role in the clearance of larger apoB-containing lipoproteins
15630635 Observational study of gene-disease association. (HuGE Navigator)
15585340 Observational study of gene-disease association. (HuGE Navigator)
15585340 low density lipoprotein receptor variants appear significantly associated with Alzheimer's disease.
15556092 Observational study of genotype prevalence. (HuGE Navigator)
15546598 Observational study of gene-disease association. (HuGE Navigator)
15526154 Low-density lipoprotein receptor structure and folding [review]
15477777 Observational study of genotype prevalence. (HuGE Navigator)
15359125 Results identify 16 different mutations of the low-density lipoprotein receptor (LDLR) gene in 25 unrelated Korean patients with heterozygous familial hypercholesterolemia and show effects on LDL receptor metabolism.
15321839 Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator)
15321838 Meta-analysis and HuGE review of gene-disease association and gene-environment interaction. (HuGE Navigator)
15321837 Meta-analysis and HuGE review of genotype prevalence. (HuGE Navigator)
15286151 Observational study of gene-disease association. (HuGE Navigator)
15241806 Observational study of gene-disease association. (HuGE Navigator)
15241806 A total of 39 Novel missense mutations, nonsense mutations, and frameshift mutations were identified in a spanish familial hypercholesterolemia cohort.
15172466 Observational study of gene-disease association. (HuGE Navigator)
15166224 findings indicate that low density lipoprotein (LDL) receptor adaptor protein(ARH) is required not only for internalization of the LDL.LDL Receptor complex but also for efficient binding of LDL to the receptor
15144588 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
15135251 Observational study of gene-disease association. (HuGE Navigator)
15133863 Observational study of gene-disease association. (HuGE Navigator)
15100232 low density lipoprotein receptor (LDLR) has a role in hypercholesterolemia mutations resulting in misfolding of the LDLR epidermal growth factor-AB pair
15068387 Observational study of genetic testing. (HuGE Navigator)
15068387 a rapid diagnostic assay capable of simultaneously analyzing seven point mutations in the low-density lipoprotein receptor (LDLR) gene, which occur at high frequency in South African familial hypercholesterolemia patients.
15015036 Observational study of genotype prevalence. (HuGE Navigator)
15015036 Point mutations in low density lipoprotein receptor is associated with severe hypercholesterolemia
14993243 cell surface levels of the LDLR mutants were significantly increased upon inhibition of the proteasome degradation pathway
14967814 patients with familial hypercholesterolemia carrying the null LDL receptor have elevation of plasma LDL-cholesterol attributable to both decreased clearance of LDL and increased hepatic production of apoB-100-containing lipoproteins
14756670 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
14746139 Observational study of genotype prevalence. (HuGE Navigator)
14624402 The mean of carotid artery intima-media maximum thicknesses was significantly higher in the 2312-3 C-->A group than in patients with other LDLr mutations
14615367 Observational study of gene-disease association. (HuGE Navigator)
14568562 data provide an alternative mechanism of LDL receptor gene expression by non-classical estradiol- and tamoxifen-stimulated induction through an ER-alpha/Sp1 complex
14557872 Observational study of gene-disease association. (HuGE Navigator)
14550622 Observational study of genotype prevalence. (HuGE Navigator)
14508510 Observational study of gene-disease association. (HuGE Navigator)
12975003 Observational study of gene-disease association. (HuGE Navigator)
12969990 Doubling transfected human Ldlr expression caused severe atherosclerosis with marked accumulation of cholesterol-rich, apoE-poor remnants in mice with human apoE4, but not apoE3, suggesting that the receptor can trap apoE4.
12947119 study provides strong evidence that early growth response 1 regulates low density lipoprotein receptor transcription via a novel mechanism of protein-protein interaction with CCAAT enhancer-binding protein beta
12944120 Observational study of genotype prevalence. (HuGE Navigator)
12944120 data presented raise the possibility that the -175g-->t polymorphism in the promoter region of the LDLR gene may have subtle effects that become clinically important within certain genetic and/or environmental contexts
12901493 Observational study of gene-disease association. (HuGE Navigator)
12898587 Observational study of gene-disease association. (HuGE Navigator)
12873747 Observational study of gene-disease association. (HuGE Navigator)
12873747 The allelic distribution of the (TA)n polymorphism was significantly different between migraine without aura (MO) and both controls and migraine with aura (MA).
12820708 a new mutation is found, in which a serine residue was replaced by a cysteine at amino acid position 305 (S305C)
12810610 Observational study of gene-disease association. (HuGE Navigator)
12730724 mutation spectrum of the LDLR gene among patients with familial hypercholesterolemia in Morocco
12716819 Insulin plays an important role in the in vivo expression of LDL receptors on monocyte cell surface.
12705331 Deletion in low-density lipoprotein receptor gene is associated with severe familial hypercholesterolemia
12562867 pp90RSK- and protein kinase C-dependent pathway regulates p42/44MAPK-induced LDL receptor transcription in HepG2 cells.
12551936 fatty acids and rosiglitazone directly stimulate transcription of the LRP gene through activation of PPARgamma and increase functional LRP expression.
12544508 Observational study of gene-environment interaction. (HuGE Navigator)
12493918 productive LDL-R folding in a cell is not vectorial but is mostly posttranslational, and involves transient long-range non-native disulfide bonds that are isomerized into native short-range cysteine pairs
12492446 Observational study of gene-disease association. (HuGE Navigator)
12485531 A novel mutation of LDLR gene was reported. This mutation may severely affect the function of LDLR.
12473547 Observational study of gene-disease association. (HuGE Navigator)
12473254 Observational study of genetic testing and healthcare-related. (HuGE Navigator)
12464675 restoration of function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1
12459547 crystal structure of the extracellular portion of LDL-R at pH = 5.3 and at 3.7 A resolution; this structure should represent the conformation of LDL-R adopted in endosomes
12442279 Observational study of genotype prevalence. (HuGE Navigator)
12442279 Double mutant allele was founded in 10 out of 458 unrelated patients and not all carriers of the double mutant allele develop hypercholesterolemia.
12417285 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
12414836 Two novel missense mutations in the LDL-R gene causing FH were found in two unrelated families from central and southern Tunisia.
12235180 Egr1 is the oncostatin M-induced transcription factor that binds to the SIRE sequence of the LDLR promoter
12221107 ARH functions as an adaptor protein that couples LDLR to the endocytic machinery
12209363 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12189808 Observational study of genotype prevalence. (HuGE Navigator)
12165956 Observational study of genotype prevalence. (HuGE Navigator)
12149270 bile acids affect gene expression via a MAPK cascade-mediated stabilization of mRNA
12121347 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12113284 Observational study of genetic testing. (HuGE Navigator)
12082592 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
12072496 human rhinovirus serotype 1A (HRV1A)does not bind to the LDL receptor
12055704 Observational study of genetic testing. (HuGE Navigator)
12052488 Observational study of genotype prevalence. (HuGE Navigator)
12048680 Observational study of gene-disease association. (HuGE Navigator)
12042130 Observational study of gene-disease association. (HuGE Navigator)
12036962 apoE binds to the LDL receptor by interacting with more than one of the receptor ligand-binding repeats.
12031600 Influence of an asparagine to lysine mutation at amino acid 3516 of apolipoprotein B on low-density lipoprotein receptor binding.
12002911 Observational study of gene-disease association. (HuGE Navigator)
11997513 Critical role of diacylglycerol- and phospholipid-regulated protein kinase C epsilon in induction of low-density lipoprotein receptor transcription in response to depletion of cholesterol.
11947895 Defective LDL receptors give rise to a phenotype of elevated LDL cholesterol. Disturbances in IDL metabolism provide the basis for understanding why FDB is less severe than FH. An apoB-LDL receptor interaction is important in the IDL to LDL conversion.
11933210 Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations
11923123 LDLR mutations in 350 cases of FH revealed 34 missense, 10 nonsense, 18 frameshift, 2 inframe, 10 splice, and 2 promoter mutations and 10 rearrangements.
11923121 Review. The proposed association between apoB secretion and FH may, however, be a function of the class of LDL receptor defect.
11916007 Eight novel mutations and functional impairments are identified in familial hypercholesterolemia in the north of Japan.
11860839 These results suggested that polymorphisms of LDL-Rgene might play an independent role of risk factor for hyperlipidemia.
11860839 Observational study of gene-disease association. (HuGE Navigator)
11857755 Observational study of genetic testing. (HuGE Navigator)
11851376 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11849659 Clinical trial of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
11848618 HDL cholesterol levels in patients with molecularly defined familial hypercholesterolemia. LDL receptor gene mutation (81T>G, 858C>A, 1285G>A, 1646G>A, and 1775G>A,) did not significantly influence HDL cholesterol levels.
11737238 Observational study of gene-disease association. (HuGE Navigator)
11702052 Observational study of gene-disease association. (HuGE Navigator)
11668640 novel mutations in patients with familial hypercholesterolemia in Spain
11668627 mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent
11524740 Nineteen mutations were novel: two nonsense, five missense, six nucleotide(s) insertions and six nucleotide(s) deletions.
11462246 mutations in German patients with familial hypercholesterolemia
11453971 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
11332639 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11317361 Observational study of genotype prevalence. (HuGE Navigator)
11317192 Observational study of gene-disease association. (HuGE Navigator)
11194026 Observational study of gene-disease association. (HuGE Navigator)
11173876 Observational study of gene-disease association. (HuGE Navigator)
11050659 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MGPWGWKLRWTVALLLAAAGTAVGDRCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKS      1 - 70
GDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCPPKTCSQDEFRCHDGKCISRQFVCDSDRDCLDGSDE     71 - 140
ASCPVLTCGPASFQCNSSTCIPQLWACDNDPDCEDGSDEWPQRCRGLYVFQGDSSPCSAFEFHCLSGECI    141 - 210
HSSWRCDGGPDCKDKSDEENCAVATCRPDEFQCSDGNCIHGSRQCDREYDCKDMSDEVGCVNVTLCEGPN    211 - 280
KFKCHSGECITLDKVCNMARDCRDWSDEPIKECGTNECLDNNGGCSHVCNDLKIGYECLCPDGFQLVAQR    281 - 350
RCEDIDECQDPDTCSQLCVNLEGGYKCQCEEGFQLDPHTKACKAVGSIAYLFFTNRHEVRKMTLDRSEYT    351 - 420
SLIPNLRNVVALDTEVASNRIYWSDLSQRMICSTQLDRAHGVSSYDTVISRDIQAPDGLAVDWIHSNIYW    421 - 490
TDSVLGTVSVADTKGVKRKTLFRENGSKPRAIVVDPVHGFMYWTDWGTPAKIKKGGLNGVDIYSLVTENI    491 - 560
QWPNGITLDLLSGRLYWVDSKLHSISSIDVNGGNRKTILEDEKRLAHPFSLAVFEDKVFWTDIINEAIFS    561 - 630
ANRLTGSDVNLLAENLLSPEDMVLFHNLTQPRGVNWCERTTLSNGGCQYLCLPAPQINPHSPKFTCACPD    631 - 700
GMLLARDMRSCLTEAEAAVATQETSTVRLKVSSTAVRTQHTTTRPVPDTSRLPGATPGLTTVEIVTMSHQ    701 - 770
ALGDVAGRGNEKKPSSVRALSIVLPIVLLVFLCLGVFLLWKNWRLKNINSINFDNPVYQKTTEDEVHICH    771 - 840
NQDGYSYPSRQMVSLEDDVA                                                      841 - 860
//

Text Mined References (660)

PMID Year Title
27015087 2016 Genetic Variants of LDLR and PCSK9 Associated with Variations in Response to Antihypercholesterolemic Effects of Armolipid Plus with Berberine.
26892126 Premature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutations.
26820623 2016 LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.
26721317 2016 A de novo mutation of the LDL receptor gene as the cause of familial hypercholesterolemia identified using whole exome sequencing.
26719329 2016 Deubiquitylase Inhibition Reveals Liver X Receptor-independent Transcriptional Regulation of the E3 Ubiquitin Ligase IDOL and Lipoprotein Uptake.
26688439 2016 Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.
26666640 2016 The Deubiquitylase USP2 Regulates the LDLR Pathway by Counteracting the E3-Ubiquitin Ligase IDOL.
26608663 2015 The distribution and characteristics of LDL receptor mutations in China: A systematic review.
26601593 2016 IDOL, inducible degrader of low-density lipoprotein receptor, serves as a potential therapeutic target for dyslipidemia.
26526611 2015 The closed conformation of the LDL receptor is destabilized by the low Ca(++) concentration but favored by the high Mg(++) concentration in the endosome.
26523989 2015 microRNA-185 modulates low density lipoprotein receptor expression as a key posttranscriptional regulator.
26494968 2015 Low-density lipoprotein receptor genetic polymorphism in chronic hepatitis C virus Egyptian patients affects treatment response.
26443862 2015 A novel peroxisome proliferator response element modulates hepatic low-density lipoprotein receptor gene transcription in response to PPAR? activation.
26427613 2015 Type of LDLR mutation and the pharmacogenetics of familial hypercholesterolemia treatment.
26345093 2015 Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population.
26342331 2015 Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approach.
26327206 2015 A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.
26318398 2015 MicroRNA-27a decreases the level and efficiency of the LDL receptor and contributes to the dysregulation of cholesterol homeostasis.
26220972 2015 Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.
26195630 2015 Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.
26131702 2015 APOE and LDLR Gene Polymorphisms and Dyslipidemia Tracking. Rio de Janeiro Study.
26085104 2015 Amyloid Precursor-like Protein 2 and Sortilin Do Not Regulate the PCSK9 Convertase-mediated Low Density Lipoprotein Receptor Degradation but Interact with Each Other.
26077743 2015 Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.
26068142 2015 The impact of LDLR function on fibroblast growth factor 21 levels.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25913303 2015 ?-Estradiol results in a proprotein convertase subtilisin/kexin type 9-dependent increase in low-density lipoprotein receptor levels in human hepatic HuH7 cells.
25911080 Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect.
25846081 2015 Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.
25839937 2015 Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.
25778403 2015 Lipoprotein(a) catabolism is regulated by proprotein convertase subtilisin/kexin type 9 through the low density lipoprotein receptor.
25775905 2014 [Familial hypercholesterolemia due to a new mutation in the low density lipoprotein receptor gene].
25647241 2015 Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
25624525 2015 LDLR gene synonymous mutation c.1813C>T results in mRNA splicing variation in a kindred with familial hypercholesterolaemia.
25613181 2015 MMP-2 inhibits PCSK9-induced degradation of the LDL receptor in Hepa1-c1c7 cells.
25545329 2015 Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
25488447 2014 Role of leptin on the expression of low density lipoprotein receptor.
25463123 2014 Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
25459919 Paraoxonase 1 activity and level of antibodies directed against oxidized low density lipoproteins in a group of an elderly population in Poland - PolSenior study.
25448985 2014 Hypoxia triggers endothelial endoplasmic reticulum stress and apoptosis via induction of VLDL receptor.
25437892 2015 Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population.
25414273 2015 Common low-density lipoprotein receptor p.G116S variant has a large effect on plasma low-density lipoprotein cholesterol in circumpolar inuit populations.
25378237 2015 Functional characterization and classification of frequent low-density lipoprotein receptor variants.
25331956 2014 The clathrin adaptor proteins ARH, Dab2, and numb play distinct roles in Niemann-Pick C1-Like 1 versus low density lipoprotein receptor-mediated cholesterol uptake.
25248394 2015 Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.
25234566 Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity.
25231171 2014 Transmission of LDLR mutation from donor through liver transplantation resulting in hypercholesterolemia in the recipient.
25194536 2014 Homozygous familial hypercholesterolemia.
25188588 2014 Mutual effect of rs688 and rs5925 in regulating low-density lipoprotein receptor splicing.
25164566 2014 Curcumin enhances cell-surface LDLR level and promotes LDL uptake through downregulation of PCSK9 gene expression in HepG2 cells.
25134189 Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.
25110901 2014 PCSK9 and LDLR degradation: regulatory mechanisms in circulation and in cells.
25015123 2014 Apolipoprotein E isoform-specific effects on lipoprotein receptor processing.
24902015 2014 Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile.
24900971 2014 Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism and coronary heart disease.
24798328 2014 Low density lipoprotein receptor class A repeats are O-glycosylated in linker regions.
24708769 2014 A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.
24671153 2014 Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia.
24640556 2013 Recombinant RXFP1-LDL-A module does not form dimers.
24632281 2014 Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation.
24553484 2014 Impact of comorbid hepatic steatosis on treatment of chronic hepatitis C in Japanese patients and the relationship with genetic polymorphism of IL28B, PNPLA3 and LDL receptor.
24530906 2014 Distribution of the LDL receptor within clathrin-coated pits and caveolae in rat and human liver.
24529145 2014 Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.
24486405 2014 Having excess levels of PCSK9 is not sufficient to induce complex formation between PCSK9 and the LDL receptor.
24450200 2013 [New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk].
24447298 2014 LDL receptor/lipoprotein recognition: endosomal weakening of ApoB and ApoE binding to the convex face of the LR5 repeat.
24412751 2014 LRP6 dimerization through its LDLR domain is required for robust canonical Wnt pathway activation.
24412220 2014 Apolipoprotein E-low density lipoprotein receptor interaction affects spatial memory retention and brain ApoE levels in an isoform-dependent manner.
24352472 2014 Hepatitis C virus stimulates low-density lipoprotein receptor expression to facilitate viral propagation.
24338390 2013 Correlation of SPECT imaging, biochemical parameters and mutation with systolic dysfunction.
24297394 2014 Difference in LDL receptor feedback regulation in macrophages and vascular smooth muscle cells: foam cell transformation under inflammatory stress.
24296664 2014 Internalized PCSK9 dissociates from recycling LDL receptors in PCSK9-resistant SV-589 fibroblasts.
24295502 2014 Genetic polymorphism of LDLR (rs688) is associated with primary intracerebral hemorrhage.
24284361 2014 Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
24257605 2014 Hypervariable region 1 deletion and required adaptive envelope mutations confer decreased dependency on scavenger receptor class B type I and low-density lipoprotein receptor for hepatitis C virus.
24249837 2014 Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia.
24225950 2014 Identification of a small peptide that inhibits PCSK9 protein binding to the low density lipoprotein receptor.
24173146 2014 Association of low-density lipoprotein receptor genotypes with hepatitis C viral load.
24158514 2014 The critical role of mRNA destabilizing protein heterogeneous nuclear ribonucleoprotein d in 3' untranslated region-mediated decay of low-density lipoprotein receptor mRNA in liver tissue.
24146255 2014 The effect of an APOE polymorphism on cognitive function depends on age.
24144304 2014 PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum.
24137609 2013 "Finnish" mutations in LDL receptor gene: a rare cause of familial hypercholesterolemia in St. Petersburg and Petrozavodsk.
24103783 2013 Characterization of the role of EGF-A of low density lipoprotein receptor in PCSK9 binding.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
24046328 2013 A variant in LDLR is associated with abdominal aortic aneurysm.
24042129 2013 Genetic risk assessment for cardiovascular disease in Azoreans (Portugal): a general population-based study.
24025248 2013 Preliminary assessment of differential expression of candidate genes associated with atherosclerosis.
23957925 2013 Toll-like receptor 9 promoter polymorphism is associated with decreased risk of Alzheimer's disease in Han Chinese.
23754288 2013 Mapping the binding region on the low density lipoprotein receptor for blood coagulation factor VIII.
23746537 2013 Pro-atherogenic lipid changes and decreased hepatic LDL receptor expression by tocilizumab in rheumatoid arthritis.
23733886 2013 The LXR-IDOL axis defines a clathrin-, caveolae-, and dynamin-independent endocytic route for LDLR internalization and lysosomal degradation.
23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
23675525 2013 Proprotein convertase subtilisin/kexin type 9 (PCSK9) can mediate degradation of the low density lipoprotein receptor-related protein 1 (LRP-1).
23669246 2013 Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
23593297 2013 Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.
23589850 2013 LDL receptor and its family members serve as the cellular receptors for vesicular stomatitis virus.
23588940 2013 Association of polymorphisms modulating low-density lipoprotein cholesterol with susceptibility, severity, and progression of rheumatoid arthritis.
23564733 2013 S-nitrosylation of ARH is required for LDL uptake by the LDL receptor.
23535506 2013 The genetic spectrum of familial hypercholesterolemia in Pakistan.
23510778 2013 A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.
23509406 2013 PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment.
23400816 2013 Low density lipoprotein binds to proprotein convertase subtilisin/kexin type-9 (PCSK9) in human plasma and inhibits PCSK9-mediated low density lipoprotein receptor degradation.
23382219 2013 Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins.
23382078 2013 IDOL stimulates clathrin-independent endocytosis and multivesicular body-mediated lysosomal degradation of the low-density lipoprotein receptor.
23380588 2013 Association between PCSK9 and LDLR gene polymorphisms with coronary heart disease: case-control study and meta-analysis.
23369702 2013 The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia.
23297366 2013 A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.
23162007 2013 First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene.
23155708 2012 Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia.
23135270 2012 Furin-cleaved proprotein convertase subtilisin/kexin type 9 (PCSK9) is active and modulates low density lipoprotein receptor and serum cholesterol levels.
23109900 2012 Several lipid-related gene polymorphisms interact with overweight/obesity to modulate blood pressure levels.
23105118 2012 The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.
23022896 2012 Association of apolipoprotein E epsilon 4 allele with sporadic late onset Alzheimer`s disease. A meta-analysis.
23021490 2012 In vitro functional characterization of missense mutations in the LDLR gene.
22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.
22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
22910581 2012 Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.
22875854 2012 Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.
22848640 2012 Annexin A2 is a natural extrahepatic inhibitor of the PCSK9-induced LDL receptor degradation.
22826357 2012 The plasma concentration of HDL-associated apoM is influenced by LDL receptor-mediated clearance of apoB-containing particles.
22716248 2012 Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression.
22698793 2012 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
22621231 2012 Polymorphisms at the LDLR locus may be associated with ischemic cerebrovascular disease independent of lipid profile.
22597534 2012 Dihydrotestosterone inhibits lectin-like oxidized-LDL receptor-1 expression in aortic endothelial cells via a NF-?B/AP-1-mediated mechanism.
22554600 2012 Discovery of a new role of human resistin in hepatocyte low-density lipoprotein receptor suppression mediated in part by proprotein convertase subtilisin/kexin type 9.
22544571 2012 A novel pathogenic variant of the LDLR gene in the Asian population and its clinical correlation with familial hypercholesterolemia.
22509010 2012 Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
22487947 2012 The Lebanese allele at the LDLR in normocholesterolemic people merits reconsideration of genotype phenotype correlations in familial hypercholesterolemia.
22425645 2012 The impact of severe LDL receptor mutations on SREBP-pathway regulation in homozygous familial hypercholesterolemia (FH).
22417841 2012 Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
22390909 2012 Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.
22388943 2012 Quercetin up-regulates LDL receptor expression in HepG2 cells.
22378787 2012 Fibroblast growth factor-21 (FGF21) regulates low-density lipoprotein receptor (LDLR) levels in cells via the E3-ubiquitin ligase Mylip/Idol and the Canopy2 (Cnpy2)/Mylip-interacting saposin-like protein (Msap).
22353362 2012 Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.
22323290 2012 FCH domain only-2 organizes clathrin-coated structures and interacts with Disabled-2 for low-density lipoprotein receptor endocytosis.
22311046 2012 Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.
22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
22278734 2012 The association between insulin and low-density lipoprotein receptors.
22275303 2012 Essential oil of Pinus koraiensis leaves exerts antihyperlipidemic effects via up-regulation of low-density lipoprotein receptor and inhibition of acyl-coenzyme A: cholesterol acyltransferase.
22257824 2012 The removal from plasma of chylomicrons and remnants is reduced in heterozygous familial hypercholesterolemia subjects with identified LDL receptor mutations: study with artificial emulsions.
22160468 2012 A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
22153697 2012 Resveratrol increases the expression and activity of the low density lipoprotein receptor in hepatocytes by the proteolytic activation of the sterol regulatory element-binding proteins.
22129472 2012 The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.
22128165 2012 LRP6 protein regulates low density lipoprotein (LDL) receptor-mediated LDL uptake.
22091758 2011 The structure, dynamics, and binding of the LA45 module pair of the low-density lipoprotein receptor suggest an important role for LA4 in ligand release.
22081141 2011 Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH.
22074827 2011 Role of ubiquitination in PCSK9-mediated low-density lipoprotein receptor degradation.
22059152 2011 An LXR agonist promotes glioblastoma cell death through inhibition of an EGFR/AKT/SREBP-1/LDLR-dependent pathway.
22024489 2011 A Mediterranean-style, low-glycemic-load diet reduces the expression of 3-hydroxy-3-methylglutaryl-coenzyme A reductase in mononuclear cells and plasma insulin in women with metabolic syndrome.
22010136 2011 Apolipoprotein isoform E4 does not increase coronary heart disease risk in carriers of low-density lipoprotein receptor mutations.
22003152 2012 Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.
21990180 2012 Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
21947084 2012 The role of lipoprotein receptors on the physiological function of APP.
21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
21935675 2011 New contributions to the study of common double mutants in the human LDL receptor gene.
21925044 2011 Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
21909108 2011 Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
21876443 2011 Influence of the combination of low-density lipoprotein receptor and interleukin 28B genotypes on lipid plasma levels in HIV/hepatitis C-coinfected patients.
21872251 2011 A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
21829380 2011 Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.
21777527 2011 Two novel mutations in exon 3 and 4 of low density lipoprotein (LDL) receptor gene in patients with heterozygous familial hypercholesterolemia.
21775114 2012 Modulation of blood cell gene expression by DHA supplementation in hypertriglyceridemic men.
21765216 2011 The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans.
21763412 2011 Phaleria macrocarpa (Scheff.) Boerl fruit aqueous extract enhances LDL receptor and PCSK9 expression in vivo and in vitro.
21757058 2011 Effect of a combination oral contraceptive (desogestrel+ethinyl estradiol) on the expression of low-density lipoprotein receptor and its transcription factor (SREBP2) in placental trophoblast cells.
21734303 2011 Distinct functional domains contribute to degradation of the low density lipoprotein receptor (LDLR) by the E3 ubiquitin ligase inducible Degrader of the LDLR (IDOL).
21722902 2011 Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.
21692990 2011 Affinity and kinetics of proprotein convertase subtilisin/kexin type 9 binding to low-density lipoprotein receptors on HepG2 cells.
21685362 2011 The IDOL-UBE2D complex mediates sterol-dependent degradation of the LDL receptor.
21606463 2011 Hyperglycemic Ins2AkitaLdlr?/? mice show severely elevated lipid levels and increased atherosclerosis: a model of type 1 diabetic macrovascular disease.
21538688 2011 Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.
21511053 2011 Role of an intramolecular contact on lipoprotein uptake by the LDL receptor.
21473855 2011 Chenodeoxycholic acid stabilization of LDL receptor mRNA depends on 3'-untranslated region and AU-rich element-binding protein.
21462887 Non-invasive vessel examinations in carriers of LDL-receptor defective gene versus non-carriers with newly detected asymptomatic severe hypercholesterolemia.
21461956 2011 APOE, MTHFR, LDLR and ACE polymorphisms among Angami and Lotha Naga populations of Nagaland, India.
21457052 2011 A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia.
21418831 2011 [A genetic and clinical study in a family with familial hypercholesterolemia].
21418584 2011 Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
21378990 2011 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
21377952 2011 [Research progression of LDLR mutations in Chinese Familial hypercholesterolemia].
21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
21345210 2011 Low density lipoprotein receptor gene Ava II polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.
21294679 2011 Organelle stress-induced activating transcription factor-3 downregulates low-density lipoprotein receptor expression in Sk-Hep1 human liver cells.
21269460 2011 Initial characterization of the human central proteome.
21149300 2011 A two-step binding model of PCSK9 interaction with the low density lipoprotein receptor.
21115573 2011 Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia.
20972250 2011 Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
20971364 2010 A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.
20962452 2010 An 11-year-old boy with familial hypercholesterolemia showing multiple xanthomas and advanced atherosclerosis, who responded to lipid-lowering therapy using statin.
20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
20810930 2010 Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile.
20738937 2010 Additive effect of multiple genetic variants on the risk of coronary artery disease.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20714348 2010 Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.
20703241 2010 Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.
20702785 2010 Calcium homeostasis and skeletal integrity in individuals with familial hypercholesterolemia and aortic calcification.
20691829 2010 Joint effects of common genetic variants from multiple genes and pathways on the risk of premature coronary artery disease.
20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
20679960 2010 Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.
20663204 2010 Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628808 2010 LDL-R AvaII and NcoI polymorphisms: an indirect risk factor for coronary heart disease among a Mendelian population of Delhi, India.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20615707 2010 Genetic polymorphisms of Chinese patients with ischemic stroke and concurrent stenoses of extracranial and intracranial vessels.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
20599862 2010 Two novel D151Y and M391T LDLR mutations causing LDLR transport defects in Thai patients with familial hypercholesterolemia.
20571754 2010 Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
20565774 2010 Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
20538126 2010 Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
20536507 2010 Independent predictive roles of eotaxin Ala23Thr, paraoxonase 2 Ser311Cys and beta-adrenergic receptor Trp64Arg polymorphisms on cardiac disease in Type 2 Diabetes--an 8-year prospective cohort analysis of 1297 patients.
20506643 2010 [Effects of Pvu II polymorphism in low density lipoprotein receptor gene on changes of serum lipid ratios induced by high-carbohydrate/low-fat diet in healthy youth].
20506408 2010 Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
20498851 2010 A locked nucleic acid antisense oligonucleotide (LNA) silences PCSK9 and enhances LDLR expression in vitro and in vivo.
20485444 2010 Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.
20452591 2010 Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations.
20428891 2010 Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene.
20416077 2010 Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
20413733 2010 Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin.
20403997 2010 Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer.
20371611 2010 Identification of heterogeneous nuclear ribonucleoprotein K as a transactivator for human low density lipoprotein receptor gene transcription.
20308432 2010 Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry.
20236128 2010 Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.
20232416 2010 Role of SFRS13A in low-density lipoprotein receptor splicing.
20217239 2010 Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia.
20172854 2010 A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake.
20167577 2010 Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.
20163833 2010 Association study between three polymorphisms and myocardial infarction and ischemic stroke in Chinese Han population.
20145306 2010 Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
20144596 2010 Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.
20129369 2009 LDL-apheresis in homozygous LDL-receptor-defective familial hypercholesterolemia: the Munich experience.
20129366 2009 Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-(Marburg) p.W556R.
20089850 2010 Calcium as a crucial cofactor for low density lipoprotein receptor folding in the endoplasmic reticulum.
20065615 2009 Association of C677T polymorphism in MTHFR gene, high homocysteine and low HDL cholesterol plasma values in heterozygous familial hypercholesterolemia.
20059631 2010 A multilocus candidate approach identifies ACE and HIF1A as susceptibility genes for cellulite.
20049331 2010 LDLR expression and localization are altered in mouse and human cell culture models of Alzheimer's disease.
20045108 2010 Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.
20031551 2008 Pharmacogenetic predictors of statin-mediated low-density lipoprotein cholesterol reduction and dose response.
20030366 2010 Decoding of lipoprotein-receptor interactions: properties of ligand binding modules governing interactions with apolipoprotein E.
20019594 Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population.
19956635 2009 Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19948739 2010 Differential functions of ApoER2 and very low density lipoprotein receptor in Reelin signaling depend on differential sorting of the receptors.
19946888 2010 Defining the membrane proteome of NK cells.
19936222 2009 Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19906111 2009 Cholesterol metabolism and expression of its relevant genes in cultured steatotic hepatocytes.
19888660 2009 Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.
19887822 2009 Regulation of low-density lipoprotein receptor and 3-hydroxy-3-methylglutaryl coenzyme A reductase gene expression by thymoquinone-rich fraction and thymoquinone in HepG2 cells.
19843101 2010 Mutation screening in patients for familial hypercholesterolaemia (ADH).
19811272 2009 Decreased transcription, expression and function of low-density lipoprotein receptor in leukocytes from patients with systemic lupus erythematosus.
19773416 2010 A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women.
19751943 2009 Apolipoprotein E on hepatitis C virion facilitates infection through interaction with low-density lipoprotein receptor.
19729601 2009 Candidate gene polymorphisms for ischemic stroke.
19717150 2010 Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia.
19706701 2009 Low pH-triggered beta-propeller switch of the low-density lipoprotein receptor assists rhinovirus infection.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19674976 2010 Mechanism of LDL binding and release probed by structure-based mutagenesis of the LDL receptor.
19667110 2009 Identification of genetic variants associated with response to statin therapy.
19656773 2009 A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19589204 2010 Genetic polymorphisms of low density lipoprotein receptor can modify stroke presentation.
19583244 2009 The role of calcium in lipoprotein release by the low-density lipoprotein receptor.
19578796 2009 Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
19538517 2009 Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia.
19533020 2009 Inflammatory stress increases unmodified LDL uptake via LDL receptor: an alternative pathway for macrophage foam-cell formation.
19520913 2009 LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor.
19491387 2009 Severe obesity is associated with novel single nucleotide polymorphisms of the ESR1 and PPARgamma locus in Han Chinese.
19479237 2009 Phenotype-genotype interactions on renal function in type 2 diabetes: an analysis using structural equation modelling.
19467224 2009 An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.
19411563 2009 Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.
19371225 2009 Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene.
19367093 2009 Association study between candidate genes and obesity-related phenotypes using a sample of lumberjacks.
19361455 2009 Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.
19336475 2009 Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
19336370 2009 Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
19322023 2009 Sterol-independent repression of low density lipoprotein receptor promoter by peroxisome proliferator activated receptor gamma coactivator-1alpha (PGC-1alpha).
19319977 2009 The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
19318025 2009 Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
19263529 2009 Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
19224862 2009 Antagonism of secreted PCSK9 increases low density lipoprotein receptor expression in HepG2 cells.
19222187 2009 Binding to the low-density lipoprotein receptor accelerates futile catalytic cycling in PCSK9 and raises the equilibrium level of intramolecular acylenzyme.
19208450 2009 Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.
19198609 2009 Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
19196236 2009 Antibody-mediated disruption of the interaction between PCSK9 and the low-density lipoprotein receptor.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19148831 2009 Nonsense-mediated decay of human LDL receptor mRNA.
19148283 2009 Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.
19141871 2009 Identification of mRNA binding proteins that regulate the stability of LDL receptor mRNA through AU-rich elements.
19131662 2009 A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
19087220 2009 Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study.
19081568 2009 Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.
19081415 2009 Aortic calcifications in familial hypercholesterolemia: potential role of the low-density lipoprotein receptor gene.
19073363 2009 Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients.
19062533 2008 [The spectrum of mutations in the low-density lipoprotein receptor gene in the Russian population].
19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.
19056482 2009 Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome.
19020990 2009 Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia.
19007590 2008 Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.
18940289 2008 Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia.
18936517 2009 Protein kinase C activation stabilizes LDL receptor mRNA via the JNK pathway in HepG2 cells.
18851860 2009 Association of genetic variation in apolipoprotein E and low density lipoprotein receptor with ischemic stroke in Northern Han Chinese.
18847225 2008 Molecular studies of pH-dependent ligand interactions with the low-density lipoprotein receptor.
18799458 2008 Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels.
18757057 2009 Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.
18718593 2009 Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.
18714375 2008 Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.
18701038 2008 Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene.
18685438 2008 Interaction of coagulation factor VIII with members of the low-density lipoprotein receptor family follows common mechanism and involves consensus residues within the A2 binding site 484-509.
18677035 2008 The epidermal growth factor homology domain of the LDL receptor drives lipoprotein release through an allosteric mechanism involving H190, H562, and H586.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18669884 2008 Site-specific effects of PECAM-1 on atherosclerosis in LDL receptor-deficient mice.
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
18635818 2008 Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding.
18622260 2008 Common genetic variation in six lipid-related and statin-related genes, statin use and risk of incident nonfatal myocardial infarction and stroke.
18513389 2008 New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
18400033 2008 Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing.
18376126 2008 The effect of atorvastatin treatment on lipid profile and adhesion molecule levels in hypercholesterolemic patients: relation to low-density lipoprotein receptor gene polymorphism.
18369154 2008 Human LDL receptor enhances sequestration of ApoE4 and VLDL remnants on the surface of hepatocytes but not their internalization in mice.
18355452 2008 A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.
18354102 2008 Polymorphisms associated with cholesterol and risk of cardiovascular events.
18343813 2008 Scrambled isomers as key intermediates in the oxidative folding of ligand binding module 5 of the low density lipoprotein receptor.
18331356 2008 The complex of the insect LDL receptor homolog, lipophorin receptor, LpR, and its lipoprotein ligand does not dissociate under endosomal conditions.
18317771 2008 Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density.
18307033 2009 Cluster analysis of risk factor genetic polymorphisms in Alzheimer's disease.
18296645 2008 Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.
18288382 2008 Analysis of polymorphisms in the 3' untranslated region of the LDL receptor gene and their effect on plasma cholesterol levels and drug response.
18261733 2008 Genetic variation at the LDL receptor and HMG-CoA reductase gene loci, lipid levels, statin response, and cardiovascular disease incidence in PROSPER.
18247305 2008 [Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family].
18243212 2008 Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors.
18210030 2008 Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.
18206115 2008 Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in Greek population.
18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
18097620 2008 Association of polymorphisms of ABCA1 and ROS1 with hypertension in Japanese individuals.
18065781 2008 Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease.
18028451 2008 Genetic heterogeneity of autosomal dominant hypercholesterolemia.
18006500 2008 Effect of apolipoprotein M on high density lipoprotein metabolism and atherosclerosis in low density lipoprotein receptor knock-out mice.
17988659 2008 Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia.
17964958 2007 LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.
17935672 2007 Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.
17905649 2007 High-density lipoprotein-associated 17beta-estradiol fatty acyl ester uptake by Fu5AH hepatoma cells: implications of the roles of scavenger receptor class B, type I and the low-density lipoprotein receptor.
17898945 2007 Exploration of the relationship between phlegm-dampness constitution and polymorphism of low density lipoprotein receptor genes Pvu II and Ava II.
17889283 2008 Low density lipoprotein receptor-related protein polymorphisms are not risk factors for venous thromboembolism.
17855807 2007 Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.
17784865 2008 Reduced expression of low-density lipoprotein receptor in hepatocellular carcinoma with paraneoplastic hypercholesterolemia.
17784784 2007 Reliance of host cholesterol metabolic pathways for the life cycle of hepatitis C virus.
17766366 2008 Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people.
17709443 2007 LDL-receptor mRNA expression in men is downregulated within an hour of an acute fat load and is influenced by genetic polymorphism.
17706090 2007 [A study on the association of apolipoprotein E genotypes with primary open-angle glaucoma and primary angle-closure glaucoma in northeast of China].
17625505 2007 A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia.
17607901 1995 Familial hypercholesterolaemia: mutations in the gene for the low-density-lipoprotein receptor.
17566095 2007 Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes.
17539906 2007 Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
17531953 2007 Influence of maternal lipid profile on placental protein expression of LDLr and SR-BI.
17517690 2007 A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.
17473053 2007 Cell surface expression of LDL receptor in chronic hepatitis C: correlation with viral load.
17461796 2007 The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR.
17452316 2007 Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation.
17445538 2007 Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia.
17399720 2008 Two new large deletions in the low density lipoprotein receptor (LDLR) gene not revealed by PCR-based molecular diagnosis of familial hypercholesterolemia.
17347910 2007 Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
17335829 2007 A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.
17328821 2007 Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly.
17277381 2007 Monounsaturated fatty acyl-coenzyme A is predictive of atherosclerosis in human apoB-100 transgenic, LDLr-/- mice.
17273844 2007 Quantitative effects of common genetic variations in the 3'UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study.
17239995 2008 Genetic study evaluating LDLR polymorphisms and Alzheimer's disease.
17234631 2007 Apolipoprotein E4 in macrophages enhances atherogenesis in a low density lipoprotein receptor-dependent manner.
17223614 2007 The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.
17196209 2008 Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening.
17156886 2007 The low-density lipoprotein receptor plays a role in the infection of primary human hepatocytes by hepatitis C virus.
17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
17094996 2007 Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
17090611 2007 Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia.
17079229 2006 Lipid-induced extension of apolipoprotein E helix 4 correlates with low density lipoprotein receptor binding ability.
17044844 2006 The A370T variant (StuI polymorphism) in the LDL receptor gene is not associated with plasma lipid levels or cardiovascular risk in UK men.
16927291 2006 Association of genetic polymorphism of low-density lipoprotein receptor with chronic viral hepatitis C infection in Han Chinese.
16920108 2006 Identification of human low-density lipoprotein receptor as a novel target gene regulated by liver X receptor alpha.
16907851 2006 Low density lipoprotein receptor transcripts correlates with liver hepatitis C virus RNA in patients with alcohol consumption.
16870193 2007 Sustained elevations in NEFA induce cyclooxygenase-2 activity and potentiate THP-1 macrophage foam cell formation.
16837242 2006 Association of lipoprotein receptor, receptor-associated protein, and metabolizing enzyme gene polymorphisms with gallstone disease: A case-control study.
16828076 2006 Analysis of LDLR mutations in familial hypercholesterolemia patients in Greece by use of the NanoChip microelectronic array technology.
16825289 2006 Diagnosing familial hypercholesterolaemia: the relevance of genetic testing.
16809787 2006 Identification of autoantibodies in human plasma recognizing an apoB-100 LDL receptor binding site peptide.
16806233 2007 Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects.
16806138 2006 Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
16796766 2006 Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
16792510 2006 Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate.
16770077 2006 Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations.
16750665 2006 Platelet-activating factor (PAF) increase intracellular lipid accumulation by increasing both LDL and scavenger receptors in human mesangial cells.
16741934 2006 No association between low density lipoprotein receptor genetic variants and Alzheimer's disease risk.
16650578 2006 Alpha2-macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease.
16627557 2006 Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?
16608402 2006 Membership in genetic groups predicts Alzheimer disease.
16596945 2005 Screening of APOB gene mutations in subjects with clinical diagnosis of familial hypercholesterolemia.
16465405 2006 Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.
16459141 2006 Combined effects of apoE-CI-CII cluster and LDL-R gene polymorphisms on chromosome 19 and coronary artery disease risk.
16389549 2006 Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.
16378661 2007 The LDLR locus in Alzheimer's disease: a family-based study and meta-analysis of case-control data.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16289238 2006 Low-density lipoprotein receptor-related protein 5 variant A1330V is a determinant of blood pressure in Japanese males.
16286607 2005 Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial.
16259478 2005 Genetic and environmental determinants of lipid profile in black and white youth: a study of four candidate genes.
16205024 2005 Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.
16183066 2006 Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
16179341 2005 The modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits.
16159606 2005 Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.
16129683 2005 Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes.
16092059 2005 Mutations in low-density lipoprotein receptor gene as a cause of hypercholesterolemia in Taiwan.
16020744 2005 Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation.
16015283 2005 Meta-analysis of four new genome scans for lipid parameters and analysis of positional candidates in positive linkage regions.
15936313 2005 Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA.
15931608 2005 Baseline levels of low-density lipoprotein cholesterol and lipoprotein (a) and the AvaII polymorphism of the low-density lipoprotein receptor gene influence the response of low-density lipoprotein cholesterol to pravastatin treatment.
15899484 2006 Genotype of the mutant LDL receptor allele is associated with LDL particle size heterogeneity in familial hypercholesterolemia.
15890894 2005 Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia.
15888448 2005 The low density lipoprotein receptor regulates the level of central nervous system human and murine apolipoprotein E but does not modify amyloid plaque pathology in PDAPP mice.
15864114 2005 Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.
15863833 2005 The apoE isoform binding properties of the VLDL receptor reveal marked differences from LRP and the LDL receptor.
15842735 2005 Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
15823288 2005 The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.
15823280 2005 Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study.
15823276 2005 The molecular basis of familial hypercholesterolaemia in Turkish patients.
15797858 2005 Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor.
15795426 2005 The lowering of plasma lipids following a weight reduction program is related to increased expression of the LDL receptor and lipoprotein lipase.
15754974 2004 Intra- and intercontinental molecular variability of an Alu insertion in the 3' untranslated region of the LDLR gene.
15741231 2005 Intracellular fate of LDL receptor family members depends on the cooperation between their ligand-binding and EGF domains.
15701167 2005 Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
15689450 2005 Functional interaction between APOE4 and LDL receptor isoforms in Alzheimer's disease.
15677715 2005 Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment.
15665085 2005 T-bet deficiency reduces atherosclerosis and alters plaque antigen-specific immune responses.
15637307 2005 Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production.
15630635 2004 Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk.
15592455 2005 Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.
15585340 2005 Genetic association of low density lipoprotein receptor and Alzheimer's disease.
15556092 2004 Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
15546598 2004 Investigation of the low-density lipoprotein receptor gene and cholesterol as a risk factor for migraine.
15526154 2004 Low-density lipoprotein receptor structure and folding.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15477777 2004 [Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.].
15359125 2004 Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
15321839 2004 Familial hypercholesterolemia, peripheral arterial disease, and stroke: a HuGE minireview.
15321838 2004 Familial hypercholesterolemia and coronary heart disease: a HuGE association review.
15321837 2004 Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review.
15286151 2004 Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
15241806 2004 Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
15172466 2004 Single nucleotide polymorphism in the low-density lipoprotein receptor is associated with a threefold risk of stroke. A case-control and prospective study.
15166224 2004 The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits.
15144588 2004 [Interaction of ApoE and LDL-R gene polymorphisms and alcohol drinking and smoking on coronary heart disease].
15135251 2004 Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.
15133863 2004 Polymorphisms at cholesterol 7alpha-hydroxylase, apolipoproteins B and E and low density lipoprotein receptor genes in patients with gallbladder stone disease.
15100232 2004 Global defects in the expression and function of the low density lipoprotein receptor (LDLR) associated with two familial hypercholesterolemia mutations resulting in misfolding of the LDLR epidermal growth factor-AB pair.
15068387 2003 Simultaneous detection of multiple familial hypercholesterolemia mutations facilitates an improved diagnostic service in South african patients at high risk of cardiovascular disease.
15057824 2004 The DNA sequence and biology of human chromosome 19.
15015036 2004 Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.
14993243 2004 Degradation of the LDL receptor class 2 mutants is mediated by a proteasome-dependent pathway.
14967814 2004 Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation.
14756670 2004 The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec.
14746139 2003 Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.
14739284 2004 Sorting motifs in the intracellular domain of the low density lipoprotein receptor interact with a novel domain of sorting nexin-17.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14624402 2003 Increased carotid artery intima-media thickness is associated with a novel mutation of low-density lipoprotein receptor independently of major cardiovascular risk factors.
14616764 2003 FH-Pyrgos: a novel mutation in the promoter (-45delT) of the low-density lipoprotein receptor gene associated with familial hypercholesterolemia.
14615367 2004 Gene interactions and stroke risk in children with sickle cell anemia.
14568562 2003 Estrogen receptor-alpha and Sp1 interact in the induction of the low density lipoprotein-receptor.
14557872 2003 Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients.
14550622 2003 Polymorphism of LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, Ig-JH, D17S30, ApoB and D1S80 loci in northwestern Russians.
14508510 2003 Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
12975003 2003 [Association between AvaII exon 13 polymorphism at the LDL receptor gene different and serum lipid levels in normotensives and essential hypertensives in Shanghai].
12969990 2004 Harmful effects of increased LDLR expression in mice with human APOE*4 but not APOE*3.
12947119 2003 Specific interaction of Egr1 and c/EBPbeta leads to the transcriptional activation of the human low density lipoprotein receptor gene.
12944399 2003 The adaptor protein beta-arrestin2 enhances endocytosis of the low density lipoprotein receptor.
12944120 2003 Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element.
12901493 2001 Association between low-density lipoprotein receptor-related protein gene, butyrylcholinesterase gene and Alzheimer' s disease in Chinese.
12898587 2003 Association of the C766T polymorphism of the low-density lipoprotein receptor-related protein gene with Alzheimer's disease.
12873747 2003 Investigation of an LDLR gene polymorphism (19p13.2) in susceptibility to migraine without aura.
12820708 2003 Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia.
12810610 2003 Genetic variation in lectin-like oxidized low-density lipoprotein receptor 1 (LOX1) gene and the risk of coronary artery disease.
12754519 2003 Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
12746448 2003 Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia.
12730724 2003 Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.
12716819 2003 Cell surface expression of LDL receptor is decreased in type 2 diabetic patients and is normalized by insulin therapy.
12705331 2003 Detection of a novel exon 4 low-density lipoprotein receptor gene deletion in a swiss family with severe familial hypercholesterolemia.
12671190 2003 Integration of endocytosis and signal transduction by lipoprotein receptors.
12615904 2003 Infectious hepatitis C virus pseudo-particles containing functional E1-E2 envelope protein complexes.
12562867 2003 pp90RSK- and protein kinase C-dependent pathway regulates p42/44MAPK-induced LDL receptor transcription in HepG2 cells.
12551936 2003 Adipocyte low density lipoprotein receptor-related protein gene expression and function is regulated by peroxisome proliferator-activated receptor gamma.
12544508 2003 A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.
12522687 2002 Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred.
12493918 2002 Coordinated nonvectorial folding in a newly synthesized multidomain protein.
12492446 2003 Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia.
12485531 2002 [Relationship between changes in activities of low density lipoprotein receptor and gene mutation in familial hypercholesterolemia].
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12473547 2002 Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population.
12473254 2002 Cost-effectiveness of a family and DNA based screening programme on familial hypercholesterolaemia in The Netherlands.
12464675 2002 Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.
12459547 2002 Structure of the LDL receptor extracellular domain at endosomal pH.
12442279 2002 A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease.
12417285 2002 Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.
12414836 2002 CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia.
12235180 2002 Identification of Egr1 as the oncostatin M-induced transcription activator that binds to sterol-independent regulatory element of human LDL receptor promoter.
12221107 2002 ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.
12209363 2002 Association of low-density lipoprotein receptor polymorphisms and outcome of hepatitis C infection.
12189808 Nicaraguan population data on LDLR, GYPA, D7S8, HBGG, GC and HLA-DQA1 loci.
12169628 2002 The PX-domain protein SNX17 interacts with members of the LDL receptor family and modulates endocytosis of the LDL receptor.
12165956 [Distribution of HLA DQA1, LDLR, GYPA, HBGG, D7S8, and GC locus alleles in the population of Russia].
12149270 2002 Bile acids enhance low density lipoprotein receptor gene expression via a MAPK cascade-mediated stabilization of mRNA.
12121421 2002 The mu2 subunit of the clathrin adaptor AP-2 binds to FDNPVY and YppØ sorting signals at distinct sites.
12121347 2002 LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolaemia.
12113284 2002 Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in brazilian patients with familial hypercholesterolemia.
12082592 2002 Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis of common complex disease.
12055704 2001 Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia.
12052488 2002 Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene.
12048680 2002 [Relationship between the Nco I, Ava II polymorphism of low density lipoprotein receptor gene and atherosclerotic cerebral infarction].
12042130 2002 [Influence of plasma lipids, APOE genotype and type of LDL receptor gene mutations on myocardial infarction in subjects with familial hypercholesterolemia].
12036962 2002 NMR structure and dynamics of a receptor-active apolipoprotein E peptide.
12031600 2002 Influence of an asparagine to lysine mutation at amino acid 3516 of apolipoprotein B on low-density lipoprotein receptor binding.
12009418 2002 A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia.
12002911 2001 Homozygous DNA variants in exon 9 of the LDL receptor gene in a Thai patient with primary hypercholesterolemia phenotype.
11997513 2002 Critical role of diacylglycerol- and phospholipid-regulated protein kinase C epsilon in induction of low-density lipoprotein receptor transcription in response to depletion of cholesterol.
11986215 2002 Platelet factor 4 binds to low-density lipoprotein receptors and disrupts the endocytic machinery, resulting in retention of low-density lipoprotein on the cell surface.
11947895 2002 Comparison of apolipoprotein B metabolism in familial defective apolipoprotein B and heterogeneous familial hypercholesterolemia.
11933210 2002 Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.
11923123 2002 MEDPED and the Spanish Familial Hypercholesterolemia Foundation.
11923121 2002 Shifting the LDL-receptor paradigm in familial hypercholesterolemia: novel insights from recent kinetic studies of apolipoprotein B-100 metabolism.
11860839 2001 [The relationship of low density lipoprotein receptor gene polymorphism and hyperlipidemia].
11857755 2002 Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.
11851376 2001 Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics.
11849659 2002 Influence of LDL receptor gene mutation and apo E polymorphism on lipoprotein response to simvastatin treatment among adolescents with heterozygous familial hypercholesterolemia.
11737238 2001 Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia.
11702052 2001 Potential genetic markers of sporadic Alzheimer's dementia.
11462246 2001 Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
11453971 2001 LDL-receptor gene mutations and the hypocholesterolemic response to statin therapy.
11332639 2001 Polymorphic DNA haplotypes at the human low-density lipoprotein receptor gene locus in Koreans.
11317361 2001 Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.
11317192 2001 A common mutation of low-density lipoprotein receptor gene is associated with essential hypertension among Japanese.
11298688 2001 A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia.
11257257 2001 Sequencing of the coding exons of the LRP1 and LDLR genes on individual DNA samples reveals novel mutations in both genes.
11194026 2000 Effect of Ava II and NcoI polymorphisms at the low density lipoprotein receptor gene on plasma lipid levels in a group of Thai subjects.
11173876 Polymorphisms of the apolipoprotein E gene regulatory region and of the LDL receptor gene in late-onset Alzheimer's disease in relation to the plasma lipidic pattern.
11157985 2001 Distribution and function of AP-1 clathrin adaptor complexes in polarized epithelial cells.
11149418 2001 Human prostate cancer cells lack feedback regulation of low-density lipoprotein receptor and its regulator, SREBP2.
11100124 2000 Uptake of HIV-1 tat protein mediated by low-density lipoprotein receptor-related protein disrupts the neuronal metabolic balance of the receptor ligands.
11050659 2000 Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia.
10980548 2000 Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
10978268 2000 Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
10933493 2000 NMR structure of a concatemer of the first and second ligand-binding modules of the human low-density lipoprotein receptor.
10906332 2000 Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulum.
10884290 2000 Apolipoprotein E;-low density lipoprotein receptor interaction. Influences of basic residue and amphipathic alpha-helix organization in the ligand.
10882754 2000 Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
10832106 2000 Expression of low and high density lipoprotein receptor genes in human adrenals.
10827173 2000 Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction.
10660340 1998 Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. Online.
10571240 1999 Reelin is a ligand for lipoprotein receptors.
10535997 1999 Hepatitis C virus and other flaviviridae viruses enter cells via low density lipoprotein receptor.
10532689 1999 Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.
10447263 1999 Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online.
10422803 1999 An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
10391209 1999 Characterization of single-nucleotide polymorphisms in coding regions of human genes.
10380922 1999 Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2.
10330445 1999 Identification of a novel major histocompatibility complex class II-restricted tumor antigen resulting from a chromosomal rearrangement recognized by CD4(+) T cells.
10206683 1998 Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.
10090484 1999 Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.
9852677 1998 Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
9837937 1998 Interaction of cytosolic adaptor proteins with neuronal apolipoprotein E receptors and the amyloid precursor protein.
9788750 1998 Regulation of low density lipoprotein receptor mRNA levels by estradiol 17beta and chorionic gonadotropin in human placenta.
9744476 1998 Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia.
9733438 1998 Possible involvement of very low density lipoproteins in steroidogenesis in the human ovary.
9678702 1998 Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
9654205 1998 LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.
9452118 1998 Possible common mutations in the low density lipoprotein receptor gene in Chinese.
9452095 1998 Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.
9452094 1998 Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.
9265653 1997 A new function for the LDL receptor: transcytosis of LDL across the blood-brain barrier.
9262405 1997 Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module.
9259195 1997 Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
9254862 1997 Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics.
9222758 1997 Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population.
9143924 1997 Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.
9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.
9026534 1996 Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.
9016531 1997 Software and database for the analysis of mutations in the human LDL receptor gene.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8740918 1996 Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.
8664907 1996 A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.
8626535 1996 Human apolipoprotein E receptor 2. A novel lipoprotein receptor of the low density lipoprotein receptor family predominantly expressed in brain.
8555255 1996 Low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl coenzyme A reductase mRNA levels are coordinately reduced in human renal cell carcinoma.
8462973 1993 A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
8347689 1993 Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.
8300609 1994 Secretion-capture role for apolipoprotein E in remnant lipoprotein metabolism involving cell surface heparan sulfate proteoglycans.
8182149 1994 Low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl coenzyme A reductase gene expression in human mononuclear leukocytes is regulated coordinately and parallels gene expression in human liver.
8168830 1994 A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).
8141835 1993 An acceptor splice site mutation in intron 16 of the low density lipoprotein receptor gene leads to an elongated, internalization defective receptor.
8127891 1994 Members of the low density lipoprotein receptor family mediate cell entry of a minor-group common cold virus.
8096412 1993 Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia.
7822276 1995 The 39-kDa receptor-associated protein modulates lipoprotein catabolism by binding to LDL receptors.
7718019 1994 Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects.
7649549 1995 Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.
7649546 1995 Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia.
7635482 1995 Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
7635461 1995 An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.
7603991 1995 Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor.
7583548 1995 Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
7581403 1995 A de novo duplication in the low density lipoprotein receptor gene.
7578052 1995 Three-dimensional structure of the second cysteine-rich repeat from the human low-density lipoprotein receptor.
7573037 1995 Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.
7550239 1995 Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
6327078 1984 Domain map of the LDL receptor: sequence homology with the epidermal growth factor precursor.
6326146 1984 Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease.
6299582 1983 The LDL receptor locus in familial hypercholesterolemia: multiple mutations disrupt transport and processing of a membrane receptor.
6291781 1982 Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia.
6129958 1982 Receptor-mediated endocytosis and the cellular uptake of low density lipoprotein.
6091915 1984 The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA.
3955657 1986 The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors.
3924410 1985 Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain.
3866240 1985 Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes.
3815525 1987 Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia.
3627182 1987 Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia.
3549308 1987 Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia.
3343347 1988 Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions.
3263645 1988 Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.
3198114 1988 A new LDL receptor gene deletion mutation in the South African population.
3104336 1987 The low density lipoprotein receptor. Identification of amino acids in cytoplasmic domain required for rapid endocytosis.
3020025 1986 Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia.
3012527 1986 Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.
3005267 1986 Deletion of clustered O-linked carbohydrates does not impair function of low density lipoprotein receptor in transfected fibroblasts.
2988123 1985 The LDL receptor gene: a mosaic of exons shared with different proteins.
2920733 1989 Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject.
2901412 1988 Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport.
2855802 1988 Macrophage lipoprotein receptors.
2837085 1988 Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).
2831865 New variant of low density lipoprotein receptor gene. FH-Tonami.
2805380 1989 Identification of a second "French Canadian" LDL receptor gene deletion and development of a rapid method to detect both deletions.
2777800 1989 Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia.
2760205 1989 Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.
2760198 1989 Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.
2726768 1989 Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
2570157 1989 A study of familial hypercholesterolaemia in Iceland using RFLPs.
2569482 1989 Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.
2544509 1989 Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia.
2352257 1990 An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.
2318961 1990 Common low-density lipoprotein receptor mutations in the French Canadian population.
1999337 1991 Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia.
1978682 1990 Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion.
1867200 1991 A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
1833771 1991 Ca(2+)-channel blockers modulate expression of 3-hydroxy-3-methylglutaryl-coenzyme A reductase and low density lipoprotein receptor genes stimulated by platelet-derived growth factor.
1757095 1991 Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas.
1734722 1992 A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.
1634609 1992 The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
1609792 1992 A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia).
1464748 1992 Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
1446662 1992 A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
1301956 1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
226968 1979 Receptor-mediated endocytosis: insights from the lipoprotein receptor system.
221835 1979 Coated pits, coated vesicles, and receptor-mediated endocytosis.