Property Summary

NCBI Gene PubMed Count 124
PubMed Score 318.63
PubTator Score 285.05

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Disease log2 FC p
malignant mesothelioma -1.400 4.0e-05
cutaneous lupus erythematosus -1.200 3.0e-02
psoriasis 1.500 1.3e-03
posterior fossa group A ependymoma 2.000 5.4e-08
atypical teratoid / rhabdoid tumor 2.000 3.8e-05
lung cancer 3.100 3.0e-04
active Crohn's disease 1.253 2.6e-02
breast carcinoma 1.400 1.1e-02
fibroadenoma 2.300 2.4e-02
interstitial cystitis -1.400 4.4e-04
group 4 medulloblastoma -2.700 8.7e-05
lung adenocarcinoma -1.300 3.9e-04
nasopharyngeal carcinoma 1.500 3.9e-02
inflammatory breast cancer -1.600 1.1e-02
Pick disease -1.700 3.6e-03
progressive supranuclear palsy -1.800 3.0e-02
ductal carcinoma in situ 1.300 3.9e-02
ovarian cancer -3.100 1.6e-08
pituitary cancer -2.700 4.3e-05
Down syndrome 1.600 2.3e-03

 OMIM Phenotype (1)

Gene RIF (73)

PMID Text
26179878 New deletion in COL4A6/COL4A5 related to diffuse esophageal leiomyomatosis associated with Alport syndrome in a Chinese family.
25992553 alpha5(IV), but not alpha1(IV), promotes lung cancer cell proliferation and tumor angiogenesis through non-integrin collagen receptor DDR1-mediated ERK activation.
25840998 the intima+media of IPAH vessels, collagens (COL4A5, COL14A1, and COL18A1), matrix metalloproteinase (MMP) 19, and a disintegrin and metalloprotease (ADAM) 33 were higher expressed, whereas MMP10, ADAM17, TIMP1, and TIMP3 were less abundant.
25739341 Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
25633161 Case Report: subepidermal blistering disease with autoantibodies to multiple laminin subunits which developed autoantibodies to COL4A5 associated with membranous glomerulonephropathy.
25575550 we identified seven families with associated mutations in COL4A3 and COL4A4 genes and four families with associated mutations in COL4A4 and COL4A5. We did not find kindreds with digenic inheritance attributable to mutations in COL4A3 and COL4A5
25572247 We identified a nucleotide change 1226 G>A, causing amino acid substitutions of Gly to Asp at position 409, in hemizygosis in the exon 20 of COL4A5 gene (proband 16 and the 13 in Alport syndrome pedigree
25307721 New COL4A5 mutations among Portuguese patients with collagen IV-related nephropathies were identified in unrelated individuals.
25183659 we report 10 intronic mutations and one exonic mutation that produce aberrant splicing, including four deep intronic mutations that produced cryptic exons.
25110662 These results broadens the mutation spectrum in the COL4A5 gene associated with Alport syndrome.
24742657 Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution
24522658 A novel missense mutation c.368G>A (p.Gly123Glu) in the collagen type IV alpha-5 gene (COL4A5) was found to be the genetic cause of the Alport syndrome
24337245 Case Report: female with X-linked Alport syndrome with compound heterozygous COL4A5 mutations and germ cell mosaicism.
24304881 Results help to clarify the milder clinical manifestations and molecular characteristics of male X-linked Alport syndrome patients expressing the alpha5(IV) chain.
24043717 The objective of the following study was to record the specificity and sensitivity of alpha5(IV) loss, smoothelin expression and PLAP expression as markers of gastrointestinal smooth muscle neoplasms
24033287 31 mutation in COL4A5 associated with autosomal dominant Alport syndrome.
23551189 The expression of collagen type IV and its alpha chains (alpha1-6) was investigated in different endothelial cell culture systems in vitro qualitatively and quantitatively.
23085274 report for the first time revealed that the frameshift mutation in the type IV collagen chain alpha5 causes only renal disease, without extrarenal lesion.
22919268 A novel COL4A5 mutation (g. 4400_4400+1del), was detected in a Chinese female patient with X-linked Alport syndrome and her son.
22335431 Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5
21848006 Mutation analysis of the proband has revealed a novel nonsense mutation (c.1135C>T; Gln379X) in exon 19 of the COL4A5 gene which may lead to a more severe phenotype in affected family members. carrying this mutation
21380622 In this paper we improve the definition of the COL4A5/COL4A6 deletions in three Alport syndrome with diffuse leiomyomatosis.
21332469 Certain mutations within the COL4A5 gene are associated with heterogeneous phenotypes.
21187648 Overexpression of HSP47 decreased the secretion of heterotrimers containing the mutant collagen alpha5(IV) chain.
21143337 Identified mutations of the COL4A5 and COL4A3 gene in five Chinese Alport syndrome families.
20951201 expression of collagen type IV alpha5 chain in the smooth muscle BM of the gastrointestinal tract is restricted to the esophagus in humans
20881942 A novel COL4A5 mutation causes rapid progression to end-stage renal disease in males, despite the absence of clinical and biopsy findings associated with Alport syndrome.
20673868 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20574986 A curated disease-specific database containing reported sequence variants in COL4A5, was developed.
20452482 Observational study of gene-disease association. (HuGE Navigator)
20378821 younger age at onset of ESRD associated with mutations at the 5' end of the gene
20378821 Observational study of gene-disease association. (HuGE Navigator)
19965530 Severe mutations in male individuals with X-linked Alport syndrome are associated with the perimacular dot-and-fleck retinopathy. Furthermore, the retinopathy indicates that male individuals are at increased risk for renal failure before the age of 30
19919694 An assay useful for mutations responsible for the most adult type Alport syndrome in the U.S. is recommended for testing individuals from families carrying one of the COL4A5 mutations tested: Cys1564Ser, Leu1649Arg or Arg1677Gln.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19728970 underlying COL4A5 (collagen type IV alpha 5) mutation, truncating or non-truncating, can significantly predict the age at End stage renal disease in male patients
19610672 Aromatic residues greatly accelerate the kinetics of self-association in a typical sequence from the alpha5 chain of type IV collagen, decreasing lag time and leading to insoluble, well-defined linear fibrils as well as small soluble aggregates.
19281745 study reports on a family with atypical Alport disease initially presenting as hereditary focal and segmental glomerulosclerosis; a previously undescribed COL4A5 mutation was identified as cause of the disease
19065523 a novel splicing mutation of c.1517-1G to T in the COL4A5 gene causing Alport syndrome in a Chinese family
18930919 analysis of noncollagenous sites encoding specific interactions and quaternary assembly of alpha 3 alpha 4 alpha 5(IV) collagen
18706356 The co-detection of alpha5 and alpha2 chains of collagen IV in frozen skin biopsies is therefore proposed as a simple technique to diagnose Alport syndrome.
18616531 combination of cDNA and MLPA analysis improves the mutation detection rate in COL4A5 and that MLPA should be the first step in genetic testing for X-linked AS
18083113 These findings indicate that a defect in heterotrimer formation is the main molecular mechanism underlying the pathogenesis of AS caused by mutation in the NC1 domain.
17554254 Comparison of alpha5(IV) with alpha2(IV) expression in Alport patients is simple and eliminates technical artifacts.
17396119 16 novel mutations identified in COL4A3, COL4A4 & COL4A5 genes in Slovenian families with Alport syndrome(ATS)& benign familial hematuria; 12 mutations found in COL4A5 gene in ATS patients (9 missense, 1 splice site, 1 frameshift & 1 nonsense mutation)
17294221 Ultrastructure of COL4A5 immunofluorescence staining of the glomerular basement membrane and Bowman capsule was demonstrated. In conrast, this protein was absent in the basement membrane of skin cells.
17277342 The cysteine to tyrosine substitution in the NC1 domain of the alpha5(IV) collagen chain in this family leads to a mild form of Alport syndrome, including absence of extra-renal features.
16941480 Twenty-one mutations in COL4A5 gene were identified in patients with Alport syndrome and they include four gross deletions, two deep intronic mutations, three frameshifts, three splice site mutations, eight missense mutations and one inframe deletion.
16940319 Immunolocalization of alpha5 type (IV)-chain collagen in the kidney may correspond to the severity of the clinical phenotype.
16613845 analysis of conformational features of a natural break in the type IV collagen Gly-X-Y repeat
16507901 The expression of the alpha5(IV)/alpha6(IV) chains was down-regulated in colorectal cancer, and the loss of expression of the alpha5(IV)/alpha6(IV) chains was associated with the hypermethylation of their promoter region.
16284948 both COL12A1 and COL4A5 constitute good candidate target genes in the pathogenesis of subungual exostosis
15954103 novel mutations identified during routine molecular diagnostics for Alport syndrome
15780079 COL4A5 mutations observed in evident X-linked Alport syndrome using genomic DNA.
15583824 distinctive patterns of expression of the alpha1 (IV) and alpha5 (IV) collagen chains may be related to the histogenic sudoral origin of cyli
15365990 The predicted rates of AA substitutions for glycine were compared with missense mutations that have been observed to cause disease. Any Gly replacement will cause disease & the level of triple-helix destabilization determines clinical outcome.
15211113 Collagen chains alpha5(IV) and alpha6(IV) were frequently absent in basement membrane from pancreatic adenocarcinoma, and their absence might be related to the invasion of cancer cells.
15149316 Alport syndrome in French Polynesia is due to a founder mutation, a tandem duplication of 35 exons, that occurred onto a common haplotype
14993485 critical role of COL4A5 gene mutations in the pathogenesis of Alport's syndrome.
14592452 We provide a first indication that highly specialized patterns characteristic of COL4A5-COL4A6 expression in vivo arise from effects of distributed cis-acting regulatory elements on a bidirectional proximal promoter, itself transcriptionally competent.
14531812 there is no correlation between the severity of the glomerular involvement (expressed by proteinuria) and the staining of the alpha 5 chain in the EBM in females with X-linked Alport syndrome.
14514738 absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity
12796257 This study showed abnormal composition of alpha(IV) chains in the anterior lens capsule of a patient with anterior lenticonus caused by a nonsense mutation in the COL4A5 gene.
12732331 human CA54 protein has a natural tendency towards variants
12478350 Observational study of gene-disease association. (HuGE Navigator)
12218303 thin basement membrane disease might be caused by an abnormality of the alpha5(IV) antigen along the glomerular basement membrane
12105244 Meta-analysis of gene-disease association. (HuGE Navigator)
12021518 an imbalance of glomerular alpha2(IV) and alpha5(IV) chain expression occurred in IgA nephropathy
11961405 new point mutation in a Spanish family with X-linked Alport syndrome
11462238 SSCP analysis in X-linked Alport syndrome
11051113 Observational study of gene-disease association. (HuGE Navigator)
7495302 Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution

AA Sequence

MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPGLPGFPGPEGP      1 - 70
PGPRGQKGDDGIPGPPGPKGIRGPPGLPGFPGTPGLPGMPGHDGAPGPQGIPGCNGTKGERGFPGSPGFP     71 - 140
GLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPGIQGLPGPTGIPGPIGPPGPPGLMGPPGPPG    141 - 210
LPGPKGNMGLNFQGPKGEKGEQGLQGPPGPPGQISEQKRPIDVEFQKGDQGLPGDRGPPGPPGIRGPPGP    211 - 280
PGGEKGEKGEQGEPGKRGKPGKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPG    281 - 350
TGITIGEKGNIGLPGLPGEKGERGFPGIQGPPGLPGPPGAAVMGPPGPPGFPGERGQKGDEGPPGISIPG    351 - 420
PPGLDGQPGAPGLPGPPGPAGPHIPPSDEICEPGPPGPPGSPGDKGLQGEQGVKGDKGDTCFNCIGTGIS    421 - 490
GPPGQPGLPGLPGPPGSLGFPGQKGEKGQAGATGPKGLPGIPGAPGAPGFPGSKGEPGDILTFPGMKGDK    491 - 560
GELGSPGAPGLPGLPGTPGQDGLPGLPGPKGEPGGITFKGERGPPGNPGLPGLPGNIGPMGPPGFGPPGP    561 - 630
VGEKGIQGVAGNPGQPGIPGPKGDPGQTITQPGKPGLPGNPGRDGDVGLPGDPGLPGQPGLPGIPGSKGE    631 - 700
PGIPGIGLPGPPGPKGFPGIPGPPGAPGTPGRIGLEGPPGPPGFPGPKGEPGFALPGPPGPPGLPGFKGA    701 - 770
LGPKGDRGFPGPPGPPGRTGLDGLPGPKGDVGPNGQPGPMGPPGLPGIGVQGPPGPPGIPGPIGQPGLHG    771 - 840
IPGEKGDPGPPGLDVPGPPGERGSPGIPGAPGPIGPPGSPGLPGKAGASGFPGTKGEMGMMGPPGPPGPL    841 - 910
GIPGRSGVPGLKGDDGLQGQPGLPGPTGEKGSKGEPGLPGPPGPMDPNLLGSKGEKGEPGLPGIPGVSGP    911 - 980
KGYQGLPGDPGQPGLSGQPGLPGPPGPKGNPGLPGQPGLIGPPGLKGTIGDMGFPGPQGVEGPPGPSGVP    981 - 1050
GQPGSPGLPGQKGDKGDPGISSIGLPGLPGPKGEPGLPGYPGNPGIKGSVGDPGLPGLPGTPGAKGQPGL   1051 - 1120
PGFPGTPGPPGPKGISGPPGNPGLPGEPGPVGGGGHPGQPGPPGEKGKPGQDGIPGPAGQKGEPGQPGFG   1121 - 1190
NPGPPGLPGLSGQKGDGGLPGIPGNPGLPGPKGEPGFHGFPGVQGPPGPPGSPGPALEGPKGNPGPQGPP   1191 - 1260
GRPGLPGPEGPPGLPGNGGIKGEKGNPGQPGLPGLPGLKGDQGPPGLQGNPGRPGLNGMKGDPGLPGVPG   1261 - 1330
FPGMKGPSGVPGSAGPEGEPGLIGPPGPPGLPGPSGQSIIIKGDAGPPGIPGQPGLKGLPGPQGPQGLPG   1331 - 1400
PTGPPGDPGRNGLPGFDGAGGRKGDPGLPGQPGTRGLDGPPGPDGLQGPPGPPGTSSVAHGFLITRHSQT   1401 - 1470
TDAPQCPQGTLQVYEGFSLLYVQGNKRAHGQDLGTAGSCLRRFSTMPFMFCNINNVCNFASRNDYSYWLS   1471 - 1540
TPEPMPMSMQPLKGQSIQPFISRCAVCEAPAVVIAVHSQTIQIPHCPQGWDSLWIGYSFMMHTSAGAEGS   1541 - 1610
GQALASPGSCLEEFRSAPFIECHGRGTCNYYANSYSFWLATVDVSDMFSKPQSETLKAGDLRTRISRCQV   1611 - 1680
CMKRT                                                                    1681 - 1685
//

Text Mined References (126)

PMID Year Title
26179878 2015 Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
25992553 2015 Minor Type IV Collagen ?5 Chain Promotes Cancer Progression through Discoidin Domain Receptor-1.
25840998 2015 Compartment-specific expression of collagens and their processing enzymes in intrapulmonary arteries of IPAH patients.
25739341 2015 Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
25633161 2015 A case of subepidermal blistering disease with autoantibodies to multiple laminin subunits who developed later autoantibodies to alpha-5 chain of type IV collagen associated with membranous glomerulonephropathy.
25575550 2015 Evidence of digenic inheritance in Alport syndrome.
25572247 2014 Alport syndrome in a Kazakh family: a case study.
25307721 2015 Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
25183659 2014 X-linked Alport syndrome caused by splicing mutations in COL4A5.
25110662 2014 A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.
24522658 2014 Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.
24337245 2014 A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.
24304881 2014 Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV ?5 chain.
24043717 2014 A study of ?5 chain of collagen IV, caldesmon, placental alkaline phosphatase and smoothelin as immunohistochemical markers of gastrointestinal smooth muscle neoplasms.
24033287 2014 Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
23551189 2014 Angiogenesis and collagen type IV expression in different endothelial cell culture systems.
23085274 2013 Mutation c.359_363delGTATTinsATAC in the COL4A5 causes Alport syndrome in a Chinese family.
22919268 2012 A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities.
22335431 2012 Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5.
21848006 2011 Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.
21380622 2011 Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
21332469 2012 X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
21187648 2010 Effect of HSP47 expression levels on heterotrimer formation among type IV collagen ?3, ?4 and ?5 chains.
21143337 2011 Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China.
20951201 2011 Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes.
20881942 2011 Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.
20673868 2010 A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).
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.
20574986 2010 The Alport syndrome COL4A5 variant database.
20452482 2010 Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.
20378821 2010 Genotype-phenotype correlation in X-linked Alport syndrome.
19965530 2010 Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.
19919694 2009 Molecular testing for adult type Alport syndrome.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19728970 2009 Alport syndrome. Molecular genetic aspects.
19610672 2009 Aromatic interactions promote self-association of collagen triple-helical peptides to higher-order structures.
19281745 2009 Atypical Alport syndrome associated with a novel COL4A5 mutation.
19065523 2008 [A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family].
18930919 2008 Identification of noncollagenous sites encoding specific interactions and quaternary assembly of alpha 3 alpha 4 alpha 5(IV) collagen: implications for Alport gene therapy.
18706356 2008 [Collagen alpha5 and alpha2 (IV) chain coexpression: The procedure of choice to diagnose Alport syndrome from skin biopsies].
18616531 2008 MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
18083113 2008 Mutational analysis of type IV collagen alpha5 chain, with respect to heterotrimer formation.
17554254 2007 Collagen alpha5 and alpha2(IV) chain coexpression: analysis of skin biopsies of Alport patients.
17396119 2007 Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.
17294221 2007 Discordance between skin biopsy and kidney biopsy in an X-linked carrier of Alport syndrome.
17277342 2007 A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.
16941480 2006 A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.
16940319 2006 Spectrum of clinical features and type IV collagen alpha-chain distribution in Chinese patients with Alport syndrome.
16613845 2006 Conformational features of a natural break in the type IV collagen Gly-X-Y repeat.
16507901 2006 Loss of expression of type IV collagen alpha5 and alpha6 chains in colorectal cancer associated with the hypermethylation of their promoter region.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16284948 2006 Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22).
15954103 2005 Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
15780079 2005 Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
15772651 2005 The DNA sequence of the human X chromosome.
15583824 2005 Distinct expression patterns of alpha1 (IV) and alpha5 (IV) collagen chains in cylindroma and malignant cylindroma.
15365990 2004 Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
15211113 2004 Immunohistochemical localization of type IV collagen alpha chains in the basement membrane of the pancreatic duct in human normal pancreas and pancreatic diseases.
15149316 2004 A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.
14993485 2004 Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome.
14592452 2003 Tissue- and developmental stage-specific activation of alpha 5 and alpha 6(IV) collagen expression in the upper gastrointestinal tract of transgenic mice.
14531812 2003 Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease.
14514738 2003 X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.
12878203 2003 Characterization of the enzymatic activity of human kallikrein 6: Autoactivation, substrate specificity, and regulation by inhibitors.
12796257 2003 Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome.
12784310 2003 Alport syndrome with diffuse leiomyomatosis.
12732331 2003 Analysis of amino acid pairs sensitive to variants in human collagen alpha5(IV) chain precursor by means of a random approach.
12478350 2002 Phenotypic and genotypic features of Alport syndrome in Chinese children.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12218303 2002 Quantitative analysis of glomerular type IV collagen alpha3-5 chain expression in children with thin basement membrane disease.
12180907 2002 Matrilin-2 interacts with itself and with other extracellular matrix proteins.
12105244 2002 Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.
12021518 2002 Glomerular expression of alpha2(IV) and alpha5(IV) chains of type IV collagen in patients with IgA nephropathy.
11961405 2002 A new point mutation in the COL4A5 gene described in a Spanish family with X-linked Alport syndrome.
11711546 2002 Interstitial collagens I, III, and VI sequester and modulate the multifunctional cytokine oncostatin M.
11462238 2001 Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
11223851 2001 Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.
11198602 2001 Two novel alternatively spliced 9-bp exons in the COL4A5 gene.
11051113 2000 The use of frailty models in genetic studies: application to the relationship between end-stage renal failure and mutation type in Alport syndrome. European Community Alport Syndrome Concerted Action Group (ECASCA).
11004279 2000 Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene.
10862091 2000 Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
10684360 2000 Mutational analysis of COL4A5 gene in Korean Alport syndrome.
10563487 1999 Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.
10561141 1999 Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
10416788 1999 Corneal cell proteins and ocular surface pathology.
10382266 1999 Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growth.
10094548 1999 Detection of mutations in COL4A5 in patients with Alport syndrome.
9878537 1998 MMP-9 from TNF alpha-stimulated keratinocytes binds to cell membranes and type I collagen: a cause for extended matrix degradation in inflammation?
9848783 1998 High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
9673377 A tumor derived motility factor that stimulates cell migration on extracellular matrix.
9506531 1998 Stimulation of extracellular matrix components in the normal brain by invading glioma cells.
9452056 1998 Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
9195222 1997 The clinical spectrum of type IV collagen mutations.
9150741 1997 Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.
9136074 1997 Interaction between Alzheimer's disease beta A4 precursor protein (APP) and the extracellular matrix: evidence for the participation of heparan sulfate proteoglycans.
8940267 1996 Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8829632 1996 Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome.
8651296 1996 X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
8651292 1996 A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.
8406498 1993 Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.
8356449 1993 Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.
8301933 1993 Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain.
8120014 1994 Structure of the human type IV collagen COL4A5 gene.
8081393 1994 A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
8006028 1994 Regulation of protease nexin-1 target protease specificity by collagen type IV.
7853788 1994 Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.
7599631 1995 Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
7500359 1995 Binding of mouse and human fibulin-2 to extracellular matrix ligands.
6988303 1980 Distribution of basement membrane proteins in normal and fibrotic human liver: collagen type IV, laminin, and fibronectin.
6811420 1982 Monoclonal antibody to human basement membrane collagen type IV.
6389236 1984 Immunolocalization of collagen types, laminin and fibronectin in the normal human pancreas.
6386565 1984 The localization and secretion of type IV collagen in synovial capillaries by immunohistochemistry using a monoclonal antibody against human type IV collagen.
3997552 1985 Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II.
2426947 1986 Extracellular matrix of the human optic nerve head.
2380186 1990 Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV).
2349482 1990 Identification of mutations in the COL4A5 collagen gene in Alport syndrome.
2339699 1990 Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus.
2004755 1991 Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome.
1724753 1991 Purification, partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface.
1689491 1990 Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.
1672282 1991 Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.
1377218 1992 Short amino acid sequences derived from C1q receptor (C1q-R) show homology with the alpha chains of fibronectin and vitronectin receptors and collagen type IV.
1376965 1992 Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
1363780 1992 De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
1352287 1992 Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.