Property Summary

NCBI Gene PubMed Count 106
PubMed Score 526.54
PubTator Score 267.04

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
nephrosclerosis -1.519 2.7e-02
pancreatic ductal adenocarcinoma liver m... -1.833 1.1e-02
non-small cell lung cancer -1.469 3.6e-16
lung cancer -1.200 2.2e-02
posterior fossa group B ependymoma 1.100 5.8e-04
primary Sjogren syndrome -1.300 3.0e-03
invasive ductal carcinoma -1.700 2.5e-02

 GWAS Trait (1)

Gene RIF (84)

PMID Text
26564082 Pseudoxanthoma elasticum is due to mutation of the ABCC6 gene on chromosome 16.
26545497 Membrane insertion and topology of the amino-terminal domain TMD0 of multidrug-resistance associated protein 6
25615550 Minimal rescue of the morpholino-induced phenotype was achieved with eight of the nine mutant human ABCC6 mRNAs tested, implying pathogenicity. This study demonstrates that the Chinese PXE population harbors unique ABCC6 mutations.
25169437 A direct relationship between reduced ABCC6 levels and the expression of pro-mineralization genes in hepatocytes.
25064003 The increase in ABCC6 expression accompanied by the induction of cholesterol biosynthesis supposes a functional role for ABCC6 in human lipoprotein and cholesterol homeostasis.
25062064 Virtual screening expands this possibility to explore more compounds that can interact with ABCC6, and may aid in understanding the mechanisms leading to pseudoxanthoma elasticum
24969777 Hepatic ABCC6-mediated ATP release is the main source of circulating PPi, revealing an unanticipated role of the liver in systemic PPi homeostasis.
24555429 This study describes the URG7 expression in E.coli and a structural study of it by using circular dichroism and fluorescence spectroscopy.
24479134 This study showed that the expression of ABCC6 in liver is an important determinant of calcification in cardiac tissues in response to injuries
24352041 analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6, and the correction of their mislocalization by chemical chaperone 4-phenylbutyrate
24277820 ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.
24008425 Our findings provide additional evidence that the ABCC6 gene product inhibits calcification under physiologic conditions and confirm a second locus for generalized arterial calcification of infancy.
23912081 The virus-mediated anti-apoptotic effect of URG7 could arise from the C-terminal cytosolic tail binding a pro-apoptotic signaling factor and retaining it to the endoplasmic reticulum membrane.
23702584 nonsense mutations in the ABCC6 gene have a role in pseudoxanthoma elasticum and may be suppressed by PTC124
23675997 ABCC6 gene is important to determine the genotype of patients diagnosed with pseudoxanthoma elasticum.
23625951 ABCC6 is in the basolateral membrane, mediating the sinusoidal efflux of a metabolite from the hepatocytes to systemic circulation.
23572048 Case Report:ABCC6 mutations in pseudoxanthoma elasticum families from different ethnic backgrounds.
23122642 Mutations in the underlying disease genes ENPP1, ABCC6, NT5E, and SLC20A2, respectively, lead to arterial media calcification.
22873774 The expression pattern of ABCC6P2 in 39 human tissues was highly similar to that of ABCC6 and ABCC6P1 suggesting similar regulatory mechanisms for ABCC6 and its pseudogenes.
22763786 We identified three DNase I hypersensitive sites (HSs) specific to cell lines expressing ABCC6.
22209248 ABCC6 mutations accounted for a significant subset of generalized arterial calcification of infancy patients, and ENPP1 mutations could also be associated with pseudoxanthoma elasticum lesions in school-aged children.
22056557 These results show that VK3GS is not the essential metabolite transported by ABCC6 from the liver and preventing the symptoms of pseudoxanthoma elasticum.
21831958 The heterozygosity for ABCC6 R1141X did not associate with risk of ischemic heart disease, myocardial infarction, ischemic cerebrovascular disease, or ischemic stroke.
21813308 ABCC6 does not transport adenosine.
21748403 The nucleotide-binding domain 2 of the human transporter protein MRP6.
21179111 Angioid streaks in pseudoxanthoma elasticum are associated with the p.R1268Q mutation in the ABCC6 gene.
20855565 Observational study of gene-disease association. (HuGE Navigator)
20801516 Observational study of genetic testing. (HuGE Navigator)
20541540 Observational study of gene-disease association. (HuGE Navigator)
20463007 regulatory pathway of ABCC6 expression showing that the ERK1/2-HNF4alpha axis has an important role in regulation of the gene
20075945 Nine novel deletion mutations in ABCC6 cause pseudoxanthoma elasticum.
20032990 The classic forms of pseudoxanthoma elasticum are due to loss-of-function mutations in the ABCC6 gene, which encodes ABCC6, a transmembrane efflux transporter expressed primarily in the liver
19929409 The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.
19929409 Observational study of gene-disease association. (HuGE Navigator)
19904211 Studies show that individuals homozygous for the c.3775delT mutation in the ABCC6 gene can have a highly variable phenotype.
19904211 Observational study of gene-disease association. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)
19341707 novel sequence determinants of liver-specific transcription of the ABCC6 gene with direct relevance for at least some pseudoxanthoma elasticum patients were identified.
19339160 Delineation of the ABCC6 mutation profile in South African PXE patients will be used as a guide for molecular genetic testing in a clinical setting and for genetic counselling.
19298904 Very recently, the ABCC6 gene on chromosome 16p13.1 was found to be associated with the disease.
19284998 Observational study of gene-disease association. (HuGE Navigator)
19240061 Observational study of gene-disease association. (HuGE Navigator)
19133228 These data provide a genetic proof of the importance of these domain-domain interactions in the ABCC6 transporter.
19056482 Observational study of gene-disease association. (HuGE Navigator)
18850323 identified ABCC6 as a target gene for transcriptional induction by PLAG1 and PLAGL1, transcription factors from the PLAG family of cell cycle progression-related DNA-binding proteins
18800149 analysis of GGCX and ABCC6 mutations in a family with pseudoxanthoma elasticum-like phenotypes [case report]
18791038 Study demonstrates that partial duplication of PKD1 and ABCC6 has many consequences: pseudogenes give rise to new transcripts and mediate gene conversion, which results in disease-causing mutations and also serves as a reservoir for sequence variation.
18439156 Expression and localization MRP6 were significantly higher in hepatoid than in control adenocarcinoma
18347285 study to illustrate phenotypic overlap consisting of usual, but limited, or atypical manifestations of PXE between heterozygous carriers of single ABCC6 mutation & patients diagnosed with PXE, carriers of homozygous or compound heterozygous mutations
18305351 ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity.
18253096 ABCC6 is the most important, and probably only, causative gene of pseudoxanthoma elasticum(PXE). In total, 188 different ABCC6 mutations have now been reported in PXE in the literature.
18191640 Observational study of gene-disease association. (HuGE Navigator)
18029147 Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum.
17880583 This study shows elastic fibers like in the lesional skin of patients with a variety of inflammatory skin diseases in the absence of clinical evidence of pseudoxanthoma elasticum; and some of these patients harbor changes in ABCC6.
17823974 ABCC6 genomic rearrangements may have a role in pseudoxanthoma elasticum in French patients
17724214 The mechanism underlying retinal dysfunction is unknown but may result from metabolic disturbance leading to retinal toxicity with a possible role of modifying genetic or environmental factors rather than specific ABCC6 mutations.
17617515 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17617515 ABCC6 mutations have a role in the pathogenesis of pseudoxanthoma elasticum
17309461 heterozygote carriers had changes in dermal elastic fibre organization, morphology & labelling midway between those seen in pseudoxanthoma elasticum & normal skin; having a single mutation in the ABCC6 gene seems enough to modify dermal elastic fibres
17045963 This suggests ABCC6 gene expression and the first identification of a transcription factor which is relevant to regulation of ABCC6 level in tissues and in some PXE patients.
16835894 Observational study of gene-disease association. (HuGE Navigator)
16835894 10 novel mutations within the ABCC6 gene are associated with pseudoxanthoma elasticum.
16543900 ABCC6 deficiency in Pseudoxanthoma elasticum (PXE) patients induces a persistent imbalance in circulating metabolite(s), which may impair the synthetic abilities of normal elastoblasts or specifically alter elastic fiber assembly.
16392638 Finds 16 PXE causing mutations and 11 neutral polymorphisms or sequence variations in particular ABCC6 exons of German patients and their relatives.
16374464 Human ABCC6 displays tissue-specific gene expression, which can be modulated by proinflammatory cytokines.
16127278 alterations in ABCC6 are not a genetic risk factor for abdominal aortic aneurysm
16086317 mutations in ABCC6 may have a role in pseudoxanthoma elasticum
15894595 ABCC6 mutations may have roles in Pseudoxanthoma elasticum
15889270 The widespread tissue distribution of ABCC6 suggests that ABCC6 fulfills multiple functions in different tissues.
15760889 there is a DNA methylation-dependent activator sequence in the ABCC6 promoter
15727254 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
15723264 ABCC6 gene mutations is associated with German pseudoxanthoma elasticum patients
15645653 first report of missense mutation identification in the ABCC6 gene in Japanese pseudoxanthoma elasticum patients.
15459974 Twenty-three different mutations were identified, among which 11 were new, in Italian patients with pseudoxanthoma elasticum
14631379 Observational study of genetic testing. (HuGE Navigator)
12901863 Asn15, which is located in the extracellular N-terminal region of human ABCC6, is the only N-glycosylation site in this protein.
12850230 Using linkage analysis and mutation detection techniques, mutations in the ABCC6 gene were recently implicated in the etiology of pseudoxanthoma elasticum.
12714611 A specific founder effect for the R1141X mutation exists in Dutch patients with PXE (pseudoxanthoma elasticum).
12673275 We suggest that the severity of the Pseudoxanthoma elasticum phenotype is not directly correlated with the level of ABCC6/MRP6 activity.
12176944 Observational study of gene-disease association. (HuGE Navigator)
12176944 Presence of the R1141X mutation in the ABCC6 gene is associated with a sharply increased risk of premature coronary artery disease
11880368 Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
11536079 mutations cause pseudoxanthoma elasticum
11439001 point mutations in Pseudoxanthoma elasticum

AA Sequence

MAAPAEPCAGQGVWNQTEPEPAATSLLSLCFLRTAGVWVPPMYLWVLGPIYLLFIHHHGRGYLRMSPLFK      1 - 70
AKMVLGFALIVLCTSSVAVALWKIQQGTPEAPEFLIHPTVWLTTMSFAVFLIHTERKKGVQSSGVLFGYW     71 - 140
LLCFVLPATNAAQQASGAGFQSDPVRHLSTYLCLSLVVAQFVLSCLADQPPFFPEDPQQSNPCPETGAAF    141 - 210
PSKATFWWVSGLVWRGYRRPLRPKDLWSLGRENSSEELVSRLEKEWMRNRSAARRHNKAIAFKRKGGSGM    211 - 280
KAPETEPFLRQEGSQWRPLLKAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFIGDPKPPAWKGY    281 - 350
LLAVLMFLSACLQTLFEQQNMYRLKVLQMRLRSAITGLVYRKVLALSSGSRKASAVGDVVNLVSVDVQRL    351 - 420
TESVLYLNGLWLPLVWIVVCFVYLWQLLGPSALTAIAVFLSLLPLNFFISKKRNHHQEEQMRQKDSRARL    421 - 490
TSSILRNSKTIKFHGWEGAFLDRVLGIRGQELGALRTSGLLFSVSLVSFQVSTFLVALVVFAVHTLVAEN    491 - 560
AMNAEKAFVTLTVLNILNKAQAFLPFSIHSLVQARVSFDRLVTFLCLEEVDPGVVDSSSSGSAAGKDCIT    561 - 630
IHSATFAWSQESPPCLHRINLTVPQGCLLAVVGPVGAGKSSLLSALLGELSKVEGFVSIEGAVAYVPQEA    631 - 700
WVQNTSVVENVCFGQELDPPWLERVLEACALQPDVDSFPEGIHTSIGEQGMNLSGGQKQRLSLARAVYRK    701 - 770
AAVYLLDDPLAALDAHVGQHVFNQVIGPGGLLQGTTRILVTHALHILPQADWIIVLANGAIAEMGSYQEL    771 - 840
LQRKGALMCLLDQARQPGDRGEGETEPGTSTKDPRGTSAGRRPELRRERSIKSVPEKDRTTSEAQTEVPL    841 - 910
DDPDRAGWPAGKDSIQYGRVKATVHLAYLRAVGTPLCLYALFLFLCQQVASFCRGYWLSLWADDPAVGGQ    911 - 980
QTQAALRGGIFGLLGCLQAIGLFASMAAVLLGGARASRLLFQRLLWDVVRSPISFFERTPIGHLLNRFSK    981 - 1050
ETDTVDVDIPDKLRSLLMYAFGLLEVSLVVAVATPLATVAILPLFLLYAGFQSLYVVSSCQLRRLESASY   1051 - 1120
SSVCSHMAETFQGSTVVRAFRTQAPFVAQNNARVDESQRISFPRLVADRWLAANVELLGNGLVFAAATCA   1121 - 1190
VLSKAHLSAGLVGFSVSAALQVTQTLQWVVRNWTDLENSIVSVERMQDYAWTPKEAPWRLPTCAAQPPWP   1191 - 1260
QGGQIEFRDFGLRYRPELPLAVQGVSFKIHAGEKVGIVGRTGAGKSSLASGLLRLQEAAEGGIWIDGVPI   1261 - 1330
AHVGLHTLRSRISIIPQDPILFPGSLRMNLDLLQEHSDEAIWAALETVQLKALVASLPGQLQYKCADRGE   1331 - 1400
DLSVGQKQLLCLARALLRKTQILILDEATAAVDPGTELQMQAMLGSWFAQCTVLLIAHRLRSVMDCARVL   1401 - 1470
VMDKGQVAESGSPAQLLAQKGLFYRLAQESGLV                                        1471 - 1503
//

Text Mined References (113)

PMID Year Title
26564082 2015 Pseudoxanthoma elasticum.
26545497 2015 Membrane insertion and topology of the amino-terminal domain TMD0 of multidrug-resistance associated protein 6 (MRP6).
25615550 2015 Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
25169437 2014 Dysregulation of gene expression in ABCC6 knockdown HepG2 cells.
25064003 2014 ABCC6- a new player in cellular cholesterol and lipoprotein metabolism?
25062064 2014 Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter.
24969777 2014 ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report.
24555429 2014 Expression, purification and structural characterization of up-regulated gene 7 encoded protein.
24479134 2014 The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury.
24352041 2014 Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins.
24277820 2013 ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24008425 2014 Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.
23912081 2013 The hepatitis B x antigen anti-apoptotic effector URG7 is localized to the endoplasmic reticulum membrane.
23702584 2013 Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum.
23675997 2014 Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.
23625951 2013 ABCC6 is a basolateral plasma membrane protein.
23572048 2013 Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
23122642 2012 Genetics in arterial calcification: lessons learned from rare diseases.
22873774 2012 Copy number variations of the ATP-binding cassette transporter ABCC6 gene and its pseudogenes.
22763786 2012 ABCC6 expression is regulated by CCAAT/enhancer-binding protein activating a primate-specific sequence located in the first intron of the gene.
22209248 2012 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
22056557 2011 ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum.
21831958 2011 Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease.
21813308 2011 ABCC6 does not transport adenosine - relevance to pathomechanism of pseudoxanthoma elasticum.
21748403 2011 The nucleotide-binding domain 2 of the human transporter protein MRP6.
21318057 2008 Identification of a New Splice Variant of the Human ABCC6 Transporter.
21179111 2011 Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.
20855565 2010 Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20541540 2010 Analysis of MMP2 promoter polymorphisms in patients with pseudoxanthoma elasticum.
20463007 2010 The ERK1/2-hepatocyte nuclear factor 4alpha axis regulates human ABCC6 gene expression in hepatocytes.
20075945 2010 Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.
20034067 2010 An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
20032990 2010 Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.
19929409 2010 The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease.
19904211 2009 Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19341707 2009 Liver-specific enhancer in ABCC6 promoter-Functional evidence from natural polymorphisms.
19339160 2009 Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
19298904 Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches.
19284998 2009 Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19133228 2009 Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6.
19056482 2009 Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome.
18987736 2008 DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
18850323 2008 The human pseudoxanthoma elasticum gene ABCC6 is transcriptionally regulated by PLAG family transcription factors.
18800149 2009 Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
18791038 2008 How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.
18439156 2008 Expression and localization of ATP binding cassette (ABC) family of drug transporters in gastric hepatoid adenocarcinomas.
18347285 2008 Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.
18305351 2007 ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity.
18253096 2008 ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
18191640 2008 Circulating P-, L- and E-selectins in pseudoxanthoma elasticum patients.
18029147 2008 Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum.
18024896 2007 The hepatitis B x antigen effector, URG7, blocks tumour necrosis factor alpha-mediated apoptosis by activation of phosphoinositol 3-kinase and beta-catenin.
17880583 2007 Pseudoxanthoma elasticum-like fibers in the inflamed skin of patients without pseudoxanthoma elasticum.
17823974 2007 Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.
17724214 2007 Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
17617515 2007 Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
17309461 2007 Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum.
17045963 2006 Expression of the human ABCC6 gene is induced by retinoids through the retinoid X receptor.
16835894 2006 Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
16543900 2006 Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro.
16392638 2005 Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.
16374464 2006 Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene.
16127278 Analysis of sequence variations in the ABCC6 gene among patients with abdominal aortic aneurysm and pseudoxanthoma elasticum.
16086317 2005 Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
15996518 2005 The gene family of ABC transporters--novel mutations, new phenotypes.
15894595 2005 Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
15889270 2005 Analysis of ABCC6 (MRP6) in normal human tissues.
15760889 2005 Identification of a DNA methylation-dependent activator sequence in the pseudoxanthoma elasticum gene, ABCC6.
15727254 2004 Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.
15723264 2005 New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.
15645653 2004 Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE).
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15459974 2004 ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
15098239 2004 Does autosomal dominant pseudoxanthoma elasticum exist?
15086542 2004 Novel ABCC6 mutations in pseudoxanthoma elasticum.
14631379 2004 Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.
12901863 2003 Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells.
12850230 Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.
12714611 2003 Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum.
12673275 2003 ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12384774 2002 Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.
12176944 2002 Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.
11880368 2002 Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
11776382 2001 ABCC6 gene polymorphism associated with variation in plasma lipoproteins.
11702217 2001 Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
11536079 2001 A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
11439001 2001 Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.
11431746 2001 A cellular gene up-regulated by hepatitis B virus-encoded X antigen promotes hepatocellular growth and survival.
11427982 2001 Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
11179012 2001 Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.
11058917 2000 Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction?
10954200 2000 Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.
10913334 2000 Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.
10835643 2000 Mutations in ABCC6 cause pseudoxanthoma elasticum.
10835642 2000 Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
10811882 2000 Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.
10585762 1999 Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.
10493829 1999 Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
10424734 1999 MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver.
9892204 1999 Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.
9721217 1998 ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, and is shown to be expressed in primitive hematopoietic precursors.
9267806 1997 A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.
8912525 1996 The anthracycline resistance-associated (ara) gene, a novel gene associated with multidrug resistance in a human leukaemia cell line.
8894702 1996 Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database.
4841083 1974 Autosomal dominant pseudoxanthoma elasticum.
3359381 Pseudoxanthoma elasticum.