Property Summary

NCBI Gene PubMed Count 119
PubMed Score 190.32
PubTator Score 143.37

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Corneal disease 32 0.0 2.0

Expression

  Differential Expression (21)

Disease log2 FC p
hepatocellular carcinoma -1.500 3.8e-03
psoriasis -1.700 1.0e-03
atypical teratoid / rhabdoid tumor 1.200 1.0e-03
medulloblastoma, large-cell 1.500 1.9e-05
Amyotrophic Lateral Sclerosis 2.344 3.3e-06
acute quadriplegic myopathy 1.571 2.5e-03
adrenocortical carcinoma -3.301 2.1e-05
non-small cell lung cancer -3.952 2.5e-24
intraductal papillary-mucinous neoplasm ... -2.200 6.0e-04
lung cancer -5.800 5.2e-07
interstitial cystitis 1.500 1.8e-02
adult high grade glioma 1.200 2.8e-03
pilocytic astrocytoma 1.700 2.8e-03
posterior fossa group A ependymoma -1.100 2.6e-04
lung carcinoma -1.300 2.6e-19
Pick disease 1.400 2.9e-02
Breast cancer -1.200 5.9e-04
ovarian cancer -1.500 1.1e-03
pituitary cancer -3.800 1.2e-08
dermatomyositis 2.000 1.0e-03
facioscapulohumeral dystrophy -1.700 3.5e-02

Gene RIF (75)

PMID Text
26194984 Letter/Case Report: novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome.
26138234 The results support the hypothesis that certain hypomorphic podocin variants may act as adverse genetic modifiers when co-inherited with COL4A3 mutations
25596306 COL4A3 mutations cause focal segmental glomerulosclerosis.
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
25514610 Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response cascade.
25450602 A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers
25381091 In family 2, a novel COL4A3 missense mutation c.G2290A (p.Gly997Glu) was identified in all affected family members, who had disease ranging from isolated microscopic hematuria to end stage renal disease.
25307543 New COL4A3 mutations among Portuguese patients with collagen IV-related nephropathies were identified in 18 unrelated families.
25229338 We found that 7 out of 70 families (10%) with familial focal segmental glomerulosclerosis in our cohort have rare variants in COL4A3 and COL4A4.
25083577 We could hypothesize that mutations in COL4A3 and COL4A4 genes are not involved in keratoconus risk in Greek population.
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
24655355 Release of recombinant tumstatin in transgenic platelet granules led to antiangiogenic effect of platelets.
24262798 COL4A3 overexpression in podocytes caused chain retention in the endoplasmic reticulum associated with activation of the unfolded protein response. Mutant COL4A3 chains differentially activated the UPR pathway in human and transfected mouse cells.
24052634 Twenty mutation pairs (50%) affected COL4A3 and 20 pairs affected COL4A4 in Alport syndrome.
24033287 10 mutation in COL4A3 associated with autosomal dominant Alport syndrome.
23927549 A homozygous COL4A3 mutation, c.40_63del, was identified in Alport syndrome individuals with mutant alleles inherited from each parent on partially conserved haplotypes.
23620401 Quaternary epitopes within alpha345NC1 hexamers may initiate alloimmune responses after transplant in X-linked Alport patients.
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.
23515049 Report monoclonal antibody against the collagen type IV alpha3NC1 domain as a marker for glomerular disease.
23371956 Maintained expression of the alpha3(COLIV) chain is an early positive prognostic marker in patients with X-linked Alport symdrome.
23297803 present a large consanguineous Turkish family with AS that was found to have a COL4A3 mutation as the cause of the disease
23108892 study found an association between lower COL4A3 mRNA expression levels and improved survival after treatment with a combination Gem/CDDP regimen for patients with advanced stage non-small cell lung cancer
23085731 Intramolecular epitope spreading might occur before the onset of human antiglomerular basement membrane disease; autoimmunity to E(A) and E(B), especially E(B), was crucial for kidney dysfunction.
22939955 COL4A3 expression is negatively associated with a favorable prognosis of overall, advanced, and intestinal-type gastric carcinomas.
22473740 Tumstatin-mRNA expression level correlates with prognosis, which suggests that tumstatin-mRNA is a new potential independent marker of favorable prognosis in non-small cell lung cancer.
22461538 Antibodies against linear epitopes on the Goodpasture autoantigen could be detected in human anti-glomerular basement membrane disease and were associated with kidney injury.
22082156 Knockdown of collagen, type IV, alpha 3 (COL4A3) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N
21854504 Circulating anti-GBM antibodies undetectable by ELISA could recognize cryptic and conformation-dependent epitopes restricted on col4a3.
21143337 Identified mutations of the COL4A5 and COL4A3 gene in five Chinese Alport syndrome families.
20673868 Observational study of gene-disease association. (HuGE Navigator)
20664914 The absence of pathogenic mutations in COL4A3 gene in our large number of unrelated keratoconus patients indicates that other genetic factors are involved in the development of this disorder
20664914 Observational study of gene-disease association. (HuGE Navigator)
20452482 Observational study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20177710 a novel heterozygous mutation p.G291E in exon 15 of the COL4A3 in the family who presented with hematuria and mild proteinuria.
20029656 This is the first mutational screening of COL4A3 and COL4A4 genes in keratoconus patients to establish the status of these genes and compare them to a control population.
20029656 Observational study of gene-disease association. (HuGE Navigator)
19786737 the repetitive nature and relatedness of the alpha3(IV)NC1 antigenic epitopes facilitate cross-linking of pathogenic Ab, in vivo, by allowing both IgG Fab to bind to the basement membrane
19688274 The expression of tumstatin gene was down-regulated in renal carcinoma tissues and cells.
19357112 association of heterozygous COL4A3/COL4A4 mutations with familial microscopic haematuria, thin basement membrane nephropathy and the late development of familial proteinuria, CRF, and ESRD, due to FSGS
18941198 A transgenic Goodpasture disease mouse model suggests that anti-3(IV)NC1 collagen B cells must either escape central deletion, or they must arise de novo from somatic events in mature B cells in the periphery and escape regulation at more distal points.
18930919 analysis of noncollagenous sites encoding specific interactions and quaternary assembly of alpha 3 alpha 4 alpha 5(IV) collagen
18772132 Goodpasture antigen-binding protein is a soluble exportable protein that interacts with type IV collagen
18661361 our data show many patients with collagen IV mutations may develop focal & segmental glomerulosclerosis, on top of thin basement membrane nephropathy & microscopic hematuria, which often progresses to chronic renal failure or end-stage renal disease
18499662 Perturbation of the quaternary structure of this protein may be a key factor in the etiology of Goodpasture disease.
18439107 COL4A3 founder mutations were identified in large Greek-Cypriot families with familial hematuria and thin basement membrane nephroapthy and focal segmental glomerulosclerosis dating to 18th century.
18436078 novel nonsense mutations in 2 African American siblings with autosomal recessive Alport syndrome.
18385178 the type IV collagen alpha3 gene contributes to the genetic susceptibility to chronic obstructive pulmonary disease
18385178 Observational study of gene-disease association. (HuGE Navigator)
17942953 COL4A3/COL4A4 mutations predispose some patients to FSGS and chronic renal failure.
17726307 Novel mutation (3725G>A, G1242D) of COL4A3 was underlying pathogenic role in homozygous form in autosomal recessive Alport syndrome and in heterozygous form in thin basement membrane nephropathy within an identical family.
17396119 16 novel mutations identified in COL4A3, COL4A4 & COL4A5 genes in Slovenian families with Alport syndrome & benign familial hematuria (BFH); 3 heterozygous mutations in the COL4A3 gene (2 missense & 1 frameshift) were identified in patients with BFH
17294221 Ultrastructure of COL4A3 immunofluorescence staining of the glomerular basement membrane and Bowman capsule was demonstrated.
17216251 Polymorphisms in thus genes is particularly important to enable diagnostic laboratories to distinguish mutations from uncommon normal variants.
16953426 Observational study of gene-disease association. (HuGE Navigator)
16940319 Immunolocalization of alpha3 type (IV)-chain collagen in the kidney may correspond to the severity of the clinical phenotype.
16895672 Possibly mutated in Alport syndrome (review)
16877525 hTERT/RGD-alpha3(IV)NC1 gene therapy showed limited expression of RGD-alpha3(IV)NC1 in tumors and resulted in a significant decrease of vessel density in tumors.
16235097 Persistent familial hematuria in children often occurs at the COL4A3 locus for thin membrane nephropathy.
15954103 novel mutations identified during routine molecular diagnostics for Alport syndrome
15880327 40% of families with TBMN have hematuria that segregates with the corresponding locus ( COL4A3/COL4A4 ), and identical mutations occur in both conditions.
15492988 our results plead in favor of an in vivo anti-angiogenic effect of tumstatin
15280517 Mutations in COL4A3 and COL4A4 genes produce alteration to glomerular basement membrane(GBM). Phenotype may range from thinned GBM to GBM thickening, lamellation and splitting. Review.
15199166 Observational study of gene-disease association. (HuGE Navigator)
14871398 Observational study of gene-disease association. (HuGE Navigator)
14871398 COL4A3 mutations are common in thin basement membrane nephropathy
14633133 Not only nephritogenic epitope itself, but flanking sequences and conformational context of nephritogenic epitope may influence its ability to cause glomerulonephritis. (alpha3(IV)NC1)
14507670 In kidney, when expressed onto Col4a3(-/-) background, human alpha3(IV) chain restored expression of and co-assembled with mouse alpha4 and alpha5(IV) chains at sites where human alpha3(IV) was expressed. All three chains required for network assembly.
12768082 COL4A3 gene is associated with Alport's syndrome in which males and females are severely affected.
12682293 tumstatin binds to alpha v beta 3 integrin in a vitronectin/fibronectin/RGD cyclic peptide independent manner
12225806 No collagen alpha3(IV) or alpha4(IV) in lens capsules of 54-day human embryos, while collagen alpha3(IV) and alpha4(IV) were detected in adult humans.
12193605 the quaternary organization of Goodpasture antigen demonstrates the molecular basis for the sequestration of epitopes
12028435 COL4A3 mutation: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
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

MSARTAPRPQVLLLPLLLVLLAAAPAASKGCVCKDKGQCFCDGAKGEKGEKGFPGPPGSPGQKGFTGPEG      1 - 70
LPGPQGPKGFPGLPGLTGSKGVRGISGLPGFSGSPGLPGTPGNTGPYGLVGVPGCSGSKGEQGFPGLPGT     71 - 140
LGYPGIPGAAGLKGQKGAPAKEEDIELDAKGDPGLPGAPGPQGLPGPPGFPGPVGPPGPPGFFGFPGAMG    141 - 210
PRGPKGHMGERVIGHKGERGVKGLTGPPGPPGTVIVTLTGPDNRTDLKGEKGDKGAMGEPGPPGPSGLPG    211 - 280
ESYGSEKGAPGDPGLQGKPGKDGVPGFPGSEGVKGNRGFPGLMGEDGIKGQKGDIGPPGFRGPTEYYDTY    281 - 350
QEKGDEGTPGPPGPRGARGPQGPSGPPGVPGSPGSSRPGLRGAPGWPGLKGSKGERGRPGKDAMGTPGSP    351 - 420
GCAGSPGLPGSPGPPGPPGDIVFRKGPPGDHGLPGYLGSPGIPGVDGPKGEPGLLCTQCPYIPGPPGLPG    421 - 490
LPGLHGVKGIPGRQGAAGLKGSPGSPGNTGLPGFPGFPGAQGDPGLKGEKGETLQPEGQVGVPGDPGLRG    491 - 560
QPGRKGLDGIPGTPGVKGLPGPKGELALSGEKGDQGPPGDPGSPGSPGPAGPAGPPGYGPQGEPGLQGTQ    561 - 630
GVPGAPGPPGEAGPRGELSVSTPVPGPPGPPGPPGHPGPQGPPGIPGSLGKCGDPGLPGPDGEPGIPGIG    631 - 700
FPGPPGPKGDQGFPGTKGSLGCPGKMGEPGLPGKPGLPGAKGEPAVAMPGGPGTPGFPGERGNSGEHGEI    701 - 770
GLPGLPGLPGTPGNEGLDGPRGDPGQPGPPGEQGPPGRCIEGPRGAQGLPGLNGLKGQQGRRGKTGPKGD    771 - 840
PGIPGLDRSGFPGETGSPGIPGHQGEMGPLGQRGYPGNPGILGPPGEDGVIGMMGFPGAIGPPGPPGNPG    841 - 910
TPGQRGSPGIPGVKGQRGTPGAKGEQGDKGNPGPSEISHVIGDKGEPGLKGFAGNPGEKGNRGVPGMPGL    911 - 980
KGLKGLPGPAGPPGPRGDLGSTGNPGEPGLRGIPGSMGNMGMPGSKGKRGTLGFPGRAGRPGLPGIHGLQ    981 - 1050
GDKGEPGYSEGTRPGPPGPTGDPGLPGDMGKKGEMGQPGPPGHLGPAGPEGAPGSPGSPGLPGKPGPHGD   1051 - 1120
LGFKGIKGLLGPPGIRGPPGLPGFPGSPGPMGIRGDQGRDGIPGPAGEKGETGLLRAPPGPRGNPGAQGA   1121 - 1190
KGDRGAPGFPGLPGRKGAMGDAGPRGPTGIEGFPGPPGLPGAIIPGQTGNRGPPGSRGSPGAPGPPGPPG   1191 - 1260
SHVIGIKGDKGSMGHPGPKGPPGTAGDMGPPGRLGAPGTPGLPGPRGDPGFQGFPGVKGEKGNPGFLGSI   1261 - 1330
GPPGPIGPKGPPGVRGDPGTLKIISLPGSPGPPGTPGEPGMQGEPGPPGPPGNLGPCGPRGKPGKDGKPG   1331 - 1400
TPGPAGEKGNKGSKGEPGPAGSDGLPGLKGKRGDSGSPATWTTRGFVFTRHSQTTAIPSCPEGTVPLYSG   1401 - 1470
FSFLFVQGNQRAHGQDLGTLGSCLQRFTTMPFLFCNVNDVCNFASRNDYSYWLSTPALMPMNMAPITGRA   1471 - 1540
LEPYISRCTVCEGPAIAIAVHSQTTDIPPCPHGWISLWKGFSFIMFTSAGSEGTGQALASPGSCLEEFRA   1541 - 1610
SPFLECHGRGTCNYYSNSYSFWLASLNPERMFRKPIPSTVKAGELEKIISRCQVCMKKRH             1611 - 1670
//

Text Mined References (120)

PMID Year Title
26194984 2015 Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome.
26138234 2015 Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.
25596306 2014 COL4A3 mutations cause focal segmental glomerulosclerosis.
25575550 2015 Evidence of digenic inheritance in Alport syndrome.
25514610 2014 Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.
25450602 2015 A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers.
25381091 2014 Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.
25307543 2015 Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
25229338 2014 Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
25083577 2014 Polymorphism analysis of COL4A3 and COL4A4 genes in Greek patients with keratoconus.
24655355 2014 Overexpression of tumstatin in genetically modified megakaryocytes changes the proangiogenic effect of platelets.
24262798 2014 Evidence for activation of the unfolded protein response in collagen IV nephropathies.
24052634 2013 COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
24033287 2014 Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
23927549 2014 A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.
23620401 2013 Quaternary epitopes of ?345(IV) collagen initiate Alport post-transplant anti-GBM nephritis.
23551189 2014 Angiogenesis and collagen type IV expression in different endothelial cell culture systems.
23515049 2013 A human monoclonal antibody against the collagen type IV ?3NC1 domain is a non-invasive optical biomarker for glomerular diseases.
23371956 2013 Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.
23319000 2014 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
23297803 2013 A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.
23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
23108892 2013 High COL4A3 expression correlates with poor prognosis after cisplatin plus gemcitabine chemotherapy in non-small cell lung cancer.
23085731 2013 Association of epitope spreading of antiglomerular basement membrane antibodies and kidney injury.
22939955 2013 COL4A3 expression correlates with pathogenesis, pathologic behaviors, and prognosis of gastric carcinomas.
22473740 2012 Decreased tumstatin-mRNA is associated with poor outcome in patients with NSCLC.
22461538 2012 Antibodies against linear epitopes on the Goodpasture autoantigen and kidney injury.
21854504 2012 Circulating anti-glomerular basement membrane autoantibodies against ?3(IV)NC1 undetectable by commercially available enzyme-linked immunosorbent assays.
21143337 2011 Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China.
20673868 2010 A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).
20664914 2010 Genetics and clinical characteristics of keratoconus.
20452482 2010 Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20177710 2010 Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.
20029656 2009 Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
19786737 2009 Modeling of human anti-GBM antibody-alpha3(IV)NC1 interactions predicts antigenic cross-linking through contact of both heavy chains with repeating epitopes on alpha3(IV)NC1.
19688274 2010 The expression of tumstatin is down-regulated in renal carcinoma.
19357112 2009 Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.
18941198 2008 Central tolerance regulates B cells reactive with Goodpasture antigen alpha3(IV)NC1 collagen.
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.
18772132 2008 Goodpasture antigen-binding protein is a soluble exportable protein that interacts with type IV collagen. Identification of novel membrane-bound isoforms.
18661361 2008 COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. glomerular epithelium destruction via basement membrane thinning?
18499662 2008 A role for collagen IV cross-links in conferring immune privilege to the Goodpasture autoantigen: structural basis for the crypticity of B cell epitopes.
18439107 2008 COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.
18436078 2008 Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.
18385178 2008 Polymorphisms in the type IV collagen alpha3 gene and the risk of COPD.
17942953 2007 COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.
17726307 2007 A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy.
17426256 2007 Regulation of COX-2 mediated signaling by alpha3 type IV noncollagenous domain in tumor angiogenesis.
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.
17216251 2007 Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.
16953426 2006 Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.
16940319 2006 Spectrum of clinical features and type IV collagen alpha-chain distribution in Chinese patients with Alport syndrome.
16895672 2005 [From Alport syndrome to benign familial hematuria: clinical and genetic aspect].
16877525 2006 Tumor-specific expression of the RGD-alpha3(IV)NC1 domain suppresses endothelial tube formation and tumor growth in mice.
16235097 2005 Persistent familial hematuria in children and the locus for thin basement membrane nephropathy.
15954103 2005 Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
15880327 2005 The genetics of thin basement membrane nephropathy.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15492988 2004 Implication of tumstatin in tumor progression of human bronchopulmonary carcinomas.
15280517 2004 Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure.
15199166 2004 Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain.
14871398 2004 COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN).
14633133 2003 Immunodominant epitopes of alpha3(IV)NC1 induce autoimmune glomerulonephritis in rats.
14507670 2003 A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice.
12878203 2003 Characterization of the enzymatic activity of human kallikrein 6: Autoactivation, substrate specificity, and regulation by inhibitors.
12768082 Type-IV collagen related diseases.
12682293 2003 Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins.
12225806 2002 Collagen IV in the developing lens capsule.
12193605 2002 Quaternary organization of the goodpasture autoantigen, the alpha 3(IV) collagen chain. Sequestration of two cryptic autoepitopes by intrapromoter interactions with the alpha4 and alpha5 NC1 domains.
12180907 2002 Matrilin-2 interacts with itself and with other extracellular matrix proteins.
12107413 2002 Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants.
12028435 2002 COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
11961012 2002 Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
11867580 2002 Molecular properties of wild-type and mutant betaIG-H3 proteins.
11711546 2002 Interstitial collagens I, III, and VI sequester and modulate the multifunctional cytokine oncostatin M.
11683410 2001 Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling.
11337467 2001 Identification and characterization of the potential promoter regions of 1031 kinds of human genes.
11134255 2001 Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
11044206 2000 Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.
10837460 2000 Two RGD-independent alpha vbeta 3 integrin binding sites on tumstatin regulate distinct anti-tumor properties.
10766752 2000 Distinct antitumor properties of a type IV collagen domain derived from basement membrane.
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.
10212244 1999 Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen.
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?
9673377 A tumor derived motility factor that stimulates cell migration on extracellular matrix.
9537506 1998 Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36.
9506531 1998 Stimulation of extracellular matrix components in the normal brain by invading glioma cells.
9409248 1997 In vitro interactions of oxidatively modified LDL with type I, II, III, IV, and V collagen, laminin, fibronectin, and poly-D-lysine.
9278443 1997 Microfibril-associated glycoprotein-1 (MAGP-1) binds to the pepsin-resistant domain of the alpha3(VI) chain of type VI collagen.
9136074 1997 Interaction between Alzheimer's disease beta A4 precursor protein (APP) and the extracellular matrix: evidence for the participation of heparan sulfate proteoglycans.
8995276 1997 Characterization of high affinity binding between laminin and the acute-phase protein, serum amyloid A.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8505332 1993 The human mRNA encoding the Goodpasture antigen is alternatively spliced.
8294492 1994 Alternative splicing of the NC1 domain of the human alpha 3(IV) collagen gene. Differential expression of mRNA transcripts that predict three protein variants with distinct carboxyl regions.
8083201 1994 Complete primary structure of the human alpha 3(IV) collagen chain. Coexpression of the alpha 3(IV) and alpha 4(IV) collagen chains in human tissues.
8016138 1994 The alpha 3 chain of type IV collagen induces autoimmune Goodpasture syndrome.
8006044 1994 Exon/intron structure of the human alpha 3(IV) gene encompassing the Goodpasture antigen (alpha 3(IV)NC1). Identification of a potentially antigenic region at the triple helix/NC1 domain junction.
8006028 1994 Regulation of protease nexin-1 target protease specificity by collagen type IV.
7987396 1994 Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.
7987301 1994 Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.
7827955 1994 Nature and the multiple functions of the 67-kD elastin-/laminin binding protein.
7758473 1995 Characterization and expression of multiple alternatively spliced transcripts of the Goodpasture antigen gene region. Goodpasture antibodies recognize recombinant proteins representing the autoantigen and one of its alternative forms.
7523402 1994 Complete primary structure of the human type IV collagen alpha 4(IV) chain. Comparison with structure and expression of the other alpha (IV) chains.
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.
3997552 1985 Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II.
3089234 1986 Collagen types in various layers of the human aorta and their changes with the atherosclerotic process.
3025878 1987 Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13.
2426947 1986 Extracellular matrix of the human optic nerve head.
1882840 1991 Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen.
1737849 1992 Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen.
1724753 1991 Purification, partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface.
1400291 1992 Exon/intron structure of the human alpha 3(IV) gene encompassing the Goodpasture antigen (alpha 3(IV)NC1). Identification of a potentially antigenic region at the triple helix/NC1 domain junction.
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.