Property Summary

NCBI Gene PubMed Count 150
PubMed Score 363.45
PubTator Score 379.69

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Epidermolysis bullosa dystrophica 6 8.998 4.0
Disease Target Count Z-score Confidence
Epidermolysis bullosa 21 0.0 4.0
Disease Target Count Z-score Confidence
Kindler syndrome 10 3.553 1.8
Neurotic excoriation 2 3.434 1.7

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma 2.300 2.2e-08
psoriasis -1.100 1.1e-05
cutaneous lupus erythematosus -1.200 2.2e-02
osteosarcoma 1.666 2.3e-07
non-small cell lung cancer 1.707 1.6e-12
intraductal papillary-mucinous carcinoma... 1.100 1.2e-02
Hydrolethalus syndrome 1.276 3.9e-02
interstitial cystitis 1.600 1.9e-03
primary Sjogren syndrome -1.200 2.1e-02
Breast cancer -1.200 4.1e-09
ulcerative colitis 1.400 8.8e-03

 CSPA Cell Line (2)

Gene RIF (91)

PMID Text
26897595 COL7A1 mutations have a role in Recessive Dystrophic Epidermolysis Bullosa and can be corrected meganuclease-mediated homology-directed repair
26586712 Novel dystrophic epidermolysis bullosa COL7a1 framshift mutation c.5493delG (p.K1831Nfs*10) in exon 64 leads to a premature termination codon located 10 amino acids downstream in exon 64 (p.K1831Nfs*10) and is expected to result in a loss of function.
26568311 TANGO1 is thus pivotal in concentrating procollagen VII in the lumen and recruiting ERGIC membranes on the cytoplasmic surface of the endoplasmic reticulum.
26476432 Type VII collagen suppresses TGFbeta signaling and angiogenesis in cutaneous SCC (squamous cell carcinoma). Patients with recessive dystrophic epidermolysis bullosa (RDEB) SCC may benefit from anti-angiogenic therapy.
26472200 In conclusion, we identified a Japanese founder recurrent mutation of c.6216 + 5G > T, inducing aberrant splicing of COL7A1 and tending to cause a mild phenotype of recessive dystrophic epidermolysis bullosa
26066885 Gene therapy is successful in the treatment of hereditary epidermolysis bullosa dystrophica.
25689103 autoantibodies to COL7, independent of the targeted epitopes, induce blisters both ex vivo and in vivo
25639640 Collagen Type VII missense mutation is responsible for the development of recessive bullous epidermolysis.
25566895 A novel dominantnegative heterozygous acceptor splice site mutation in the COL7A1 gene (IVS671G>T) was found in both our patient and his youngest son.
25425313 COL7A1 mutation was diagnosed with next generation sequencing in patient with dystrophic epidermolysis bullosa.
24927163 Study demonstrated that versican, TGFbeta1, Col7A1 and ITGbeta3 are up-regulated in isolated Cancer stem cells.
24810542 The central collagenous domain of Col7 contains several interruptions of the collagen triple helix
24794830 Case Report: hot spot mutation c.6127G>A in COL7A1 leads to dominant dystrophic epidermolysis bullosa associated with intracellular accumulation of pro-collagean VII.
24732400 TGM2 was identified as a stable interaction partner of collagen VII and is reduced in recessive dystrophic epidermolysis bullosa.
24357722 SLCO1B3 expression and promoter activity are modulated by COL7A1 in tumor keratinocytes isolated from recessive dystrophic epidermolysis bullosa.
24317394 We show that revertant recessive dystrohic epidermolysis bullosa keratinocytes expressing functional C7 can be reprogrammed into induced pluripotent stem cells and self-corrected keratinocytes can be differentiated into epidermal or hematopoietic cells.
24252097 Results suggest that In children with a moderate form of DEB with no or moderate skin fragility, a glycine substitution near the THD interruption domain of the collagen VII leading to thermolabile protein could explain this phenomenon
24213372 analysis of COL7A1 mutations in patients with recessive dystrophic epidermolysis bullosa
24210835 The mutations detected in our 17 DEB patients highlight the presence of both mild (DDEB) and severe phenotypes (RDEB-O and RDEB-sev gen), confirming that a more severe involvement of the oropharyngeal mucosa occurs in RDEB.
24127822 anti-type VII collagen autoantibodies fluctuated in parallel with disease activity in epidermolysis bullosa acquisita
24117545 Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa caused by mutations in type VII collagen resulting in disorganized anchoring fibrils and sublamina densa blister formation.
23947675 immortalized and cloned recessive dystrophic epidermolysis bullosa keratinocytes carrying the c.6527insC mutation
23834951 Data suggest that, of the five basement membrane types present in term placental tissue and fetal membranes, just one, that associated with amnion epithelium, expresses type VII collagen.
23769655 data further enhance the mutation spectrum of the LAMB3 and the COL7A1 genes, and also underscore the crucial roles of these genes in pathogenesis of epidermolysis bullosa
23688405 Our long-term observational study showed that this in-frame exon skipping mutation was conversely highly predictive of the pruriginosa phenotype and characterized by a very variable phenotype in terms of severity of disease.
23679163 We report the first case of HS-RDEB homozygous PTC mutations of 5818delC in both COL7A1 alleles.
23624125 Mutation in COL7A1 caused a broad range of severity of disease in a family with pretibial epidermolysis bullosa.
23591773 Loss of collagen VII has a global impact on the cellular microenvironment in recessive dystrophic epidermolysis bullosa patients.
23397949 We report six Chinese cases with Epidermolysis Bullosa Pruriginosa, who had four novel and two previously reported mutations leading to glycine substitutions of COL7A1.
23226319 novel disease-causing mutations in the COL7A1 gene
23106673 We describe three families with multiple affected members in which epidermolysis bullosa prurigosa variant shows autosomal-dominance and all three previously unreported COL7A1 mutations were identified.
22974128 Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.
22757647 This study confirms unequivocally that the c.6527insC mutation in the COL7A1 gene, a cause of recessive dystrophic epidermolysis bullosa, originated from a single ancestor.
22515571 The wide diversity of clinical phenotypes with one underlying genotype demonstrates that COL7A1 mutations are incompletely penetrant and strongly suggests that other genetic and environmental factors influence clinical presentation.
22266148 We present the first COL7A1 mutation analysis in Polish dystrophic epidermolysis bullosa patients.
22209565 Letter: report novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
22070715 The infant's genomic DNA from blood was found to be heterozygous for a missense mutation on exon 54 of COL7A1 (c.5017G > A, p.G1673R) not previously described in bullous dermolysis of the newborn.
21879237 we have identified three pathogenic COL7A1 mutations (G1773R, splicing site mutation of c.6900+1G>C, and G2701W) in 3 dystrophic epidermolysis bullosa pruriginosa families.
21658117 Two cases of recessive dystrophic epidermolysis bullosa revealed heteroallelic recessive mutations which resulted in premature termination codons.
21574979 Mutation in this gene results in skipping of exon 87 leading to aberrant splicing of this exon.
21482078 NC1 and NC2 domains of type VII collagen have a role in of epidermolysis bullosa acquisita
21448560 In screening the COL7A1 gene for mutations in individuals with dominant/recessive dystrophic epidermolysis bullosa our data highlight that delineation of glycine substitutions in type VII collagen has important implications for genetic counselling.
21196708 novel compound heterozygous recessive COL7A1 missense mutations in 2 siblings presenting different Dystrophic epidermolysis bullosa clinical subtypes
21113014 Recessive dystrophic epidermolysis bullosa-I is associated with specific recessive arginine and glycine substitutions in the triple helix domain of type VII collagen.
20920254 Observational study of gene-disease association. (HuGE Navigator)
20598510 Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.
20555349 six new genetic mutations were found in collagen type VII for inversa dystropic epidermolysis bullosa
20184583 Although the COL7A1 database indicates that most dystrophic epidermolysis bullosa mutations are family specific, the pathogenic mutation c.6527insC was highly recurrent in this cohort, this recurrence level has never previously been reported for COL7A1.
19945621 Dystrophic epidermolysis bullosa (DEB) emerged as a candidate for type VII collagen mutations becausing anchoring fibrils were shown to be morphologically altered, reduced in number, or completely absent in patients
19681861 Results disclosed 42 novel COL7A1 mutations, including the first large genomic deletion of 4 kb affecting only the COL7A1 gene, and three apparently silent mutations affecting splicing.
19681861 Observational study of gene-disease association. (HuGE Navigator)
19665875 Pseudosyndactyly occurs in approximately half of recessive dystrophic epidermolysis bullosa (RDEB-O) patients when type VII collagen is strongly reduced. The prognosis in RDEB cannot always be simply predicted from the COL7A1 genotype.
19486043 new variants of COL7A1 mutations underlying epidermolysis bullosa pruriginosa
19435799 Results describe the effect of loss of collage type VII on squamous cell carcinoma tumourigenesis using RNA interference in a 3D organotypic skin model.
19422682 Results suggest that the down-regulation of alpha 6(IV) mRNA coincides with the acquisition of invasive growth properties, whereas alpha1(IV) and alpha1(VII) mRNAs were up-regulated already in dysplastic tissue.
19367581 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19250433 novel glycine substitution mutation in the COL7A1 gene in three affected family members with dystrophic epidermolysis bullosa
19197535 The increased type VII collagen degradation was suspected to trigger an inflammatory response leading to itchy skin in EB pruriginosa. All 27 with EB pruriginosa were heterozygous for dominant-negative glycine substitution mutations in the COL7A1 gene.
19197535 Observational study of gene-disease association. (HuGE Navigator)
18558993 characterization of COL7A1 mutations in dystrophic epidermolysis bullosa [review]
18496702 linked to dystrophic epidermolysis bullosa in Tunisian consanguineous families
18450758 known recessive DEB C7 mutations perturb critical functions of the C7 molecule and may have a role in dystrophic epidermolysis bullosa
18440202 A p.Glu2857X mutation exhibits mild pathogenic effects in COL7A1, and its uniqueness enables detailed analysis and comparison of the destabilizing effects of missense mutations in dystrophic epidermolysis bullosa patients.
18429782 Mutations in the gene for collagen VII (COL7A1) have been documented in both types of dystrophic epidermolysis bullosa.
18374850 Dystrophic epidermolysis bullosa may present in generalized or localized forms and the disease may be inherited in either autosomal dominant or recessive mode. Genetic analysis shows mutations in COL 7A1 in this case
18331784 The expression of COL7A1 mrna was higher in malignant tissue and was correlated with depth of tumor invasion and lymphatic invasion in ESCC.
17916216 Mutational analysis revealed 30 pathogenic COL7A1 mutations among a total of 33 allels, identifying 10 novel and 14 previously adentified mutations.
17900868 Identify novel mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa in a Chinese family. More severe phenotype observed in female members.
17525268 Data show that the cartilage matrix protein subdomain of type VII collagen is pathogenic for epidermolysis bullosa acquisita.
17495952 Individuals with recessive dystrophic epidermolysis bullosa can develop squamous-cell carcinoma regardless of type VII collagen expression and that additional factors have a role in explaining the high incidence of tumors complicating this genodermatosis.
17425959 We report 14 Australian families with different forms of dystrophic epidermolysis bullosa (DEB) with 23 different COL7A1 allelic variants, nine of which were novel.
17336503 description of a novel glycine substitution mutation in COL7A1 in a Chinese pedigree with dominant epidermolysis bullosa pruriginosa
17229600 Glycine subsstitution in this protein underlies mild recessive dystrophic epidermolysis bullosa, showing that type VII collagen is tolefant of heterozygous glycine substitution.
17106611 Epidermolysis bullosa pruriginosa due to a glycine substitution missense mutation in the COL7A1-gene
16971478 Mutations from more than 1000 families with different forms of epidermolysis bullosa were analyzed. 242 mutations were distinct and 138 were novel, previously unreported mutations.
16923137 Two boys with dystrophic epidermolysis bullosa and their fathers revealed a heterozygous nucleotide G to A transition at position 6109 and 6082 in 73 exon of COL7A1, which resulted in a glycine to arginine substitution (G2037R and G2028R), respectively.
16500083 preimplantation genetic diagnosis for Hallopeau-Siemens recessive dystrophic epidermolysis bullosa
16470588 COL7A1 hemizygosity and a missense mutation with complex effects on splicing may be causative in recessive dystrophic epidermolysis bullosa
15888141 Observational study of gene-disease association. (HuGE Navigator)
15816848 Spectrum of mutations in dystrophic epidermolysis bullosa and cryptic splicing
15810887 TNF-alpha and IL-1beta enhance the TGF-beta-mediated up-regulation of COL7A1 expression in HaCaT keratinocytes
15774758 collagen VII required for Ras-driven epidermal tumorigenesis by enhancing tumor cell invasion; retention of NC1 sequences in a subset of recessive dystrophic epidermolysis bullosa patients may contribute to their susceptibility to squamous cell carcinoma
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.
15113589 identical COL7A1 glycine substitutions can cause remarkably heterogeneous clinical phenotypes
14727126 R578X, 7786delG, and R2814X mutations are specifically limited to British patients, and the mutations 5818delC, 6573+1G-->C, and E2857X are frequent in Japanese patients.
12787118 May contribute to flexibility of linker of fibronectin type III domains and may affect interactions between noncollagenous 1 domain and extracellular matrix proteins. May have role in dermal-epidermal adhesion, wound healing, and skin remodeling.
12485454 Observational study of genotype prevalence. (HuGE Navigator)
12353709 A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa.
12060403 The epidermolysis bullosa acquisita antigen (type VII collagen) is present in human colon and patients with crohn's disease have autoantibodies to type VII collagen.
11986329 bone morphogenetic protein-1 (BMP-1), which exhibits procollagen C-proteinase activity, cleaves the C-terminal propeptide from human procollagen VII
11843659 glycine substitution mutations in COL7A1 are associated with dominant familial dystrophic toenail changes

AA Sequence

MTLRLLVAALCAGILAEAPRVRAQHRERVTCTRLYAADIVFLLDGSSSIGRSNFREVRSFLEGLVLPFSG      1 - 70
AASAQGVRFATVQYSDDPRTEFGLDALGSGGDVIRAIRELSYKGGNTRTGAAILHVADHVFLPQLARPGV     71 - 140
PKVCILITDGKSQDLVDTAAQRLKGQGVKLFAVGIKNADPEELKRVASQPTSDFFFFVNDFSILRTLLPL    141 - 210
VSRRVCTTAGGVPVTRPPDDSTSAPRDLVLSEPSSQSLRVQWTAASGPVTGYKVQYTPLTGLGQPLPSER    211 - 280
QEVNVPAGETSVRLRGLRPLTEYQVTVIALYANSIGEAVSGTARTTALEGPELTIQNTTAHSLLVAWRSV    281 - 350
PGATGYRVTWRVLSGGPTQQQELGPGQGSVLLRDLEPGTDYEVTVSTLFGRSVGPATSLMARTDASVEQT    351 - 420
LRPVILGPTSILLSWNLVPEARGYRLEWRRETGLEPPQKVVLPSDVTRYQLDGLQPGTEYRLTLYTLLEG    421 - 490
HEVATPATVVPTGPELPVSPVTDLQATELPGQRVRVSWSPVPGATQYRIIVRSTQGVERTLVLPGSQTAF    491 - 560
DLDDVQAGLSYTVRVSARVGPREGSASVLTVRREPETPLAVPGLRVVVSDATRVRVAWGPVPGASGFRIS    561 - 630
WSTGSGPESSQTLPPDSTATDITGLQPGTTYQVAVSVLRGREEGPAAVIVARTDPLGPVRTVHVTQASSS    631 - 700
SVTITWTRVPGATGYRVSWHSAHGPEKSQLVSGEATVAELDGLEPDTEYTVHVRAHVAGVDGPPASVVVR    701 - 770
TAPEPVGRVSRLQILNASSDVLRITWVGVTGATAYRLAWGRSEGGPMRHQILPGNTDSAEIRGLEGGVSY    771 - 840
SVRVTALVGDREGTPVSIVVTTPPEAPPALGTLHVVQRGEHSLRLRWEPVPRAQGFLLHWQPEGGQEQSR    841 - 910
VLGPELSSYHLDGLEPATQYRVRLSVLGPAGEGPSAEVTARTESPRVPSIELRVVDTSIDSVTLAWTPVS    911 - 980
RASSYILSWRPLRGPGQEVPGSPQTLPGISSSQRVTGLEPGVSYIFSLTPVLDGVRGPEASVTQTPVCPR    981 - 1050
GLADVVFLPHATQDNAHRAEATRRVLERLVLALGPLGPQAVQVGLLSYSHRPSPLFPLNGSHDLGIILQR   1051 - 1120
IRDMPYMDPSGNNLGTAVVTAHRYMLAPDAPGRRQHVPGVMVLLVDEPLRGDIFSPIREAQASGLNVVML   1121 - 1190
GMAGADPEQLRRLAPGMDSVQTFFAVDDGPSLDQAVSGLATALCQASFTTQPRPEPCPVYCPKGQKGEPG   1191 - 1260
EMGLRGQVGPPGDPGLPGRTGAPGPQGPPGSATAKGERGFPGADGRPGSPGRAGNPGTPGAPGLKGSPGL   1261 - 1330
PGPRGDPGERGPRGPKGEPGAPGQVIGGEGPGLPGRKGDPGPSGPPGPRGPLGDPGPRGPPGLPGTAMKG   1331 - 1400
DKGDRGERGPPGPGEGGIAPGEPGLPGLPGSPGPQGPVGPPGKKGEKGDSEDGAPGLPGQPGSPGEQGPR   1401 - 1470
GPPGAIGPKGDRGFPGPLGEAGEKGERGPPGPAGSRGLPGVAGRPGAKGPEGPPGPTGRQGEKGEPGRPG   1471 - 1540
DPAVVGPAVAGPKGEKGDVGPAGPRGATGVQGERGPPGLVLPGDPGPKGDPGDRGPIGLTGRAGPPGDSG   1541 - 1610
PPGEKGDPGRPGPPGPVGPRGRDGEVGEKGDEGPPGDPGLPGKAGERGLRGAPGVRGPVGEKGDQGDPGE   1611 - 1680
DGRNGSPGSSGPKGDRGEPGPPGPPGRLVDTGPGAREKGEPGDRGQEGPRGPKGDPGLPGAPGERGIEGF   1681 - 1750
RGPPGPQGDPGVRGPAGEKGDRGPPGLDGRSGLDGKPGAAGPSGPNGAAGKAGDPGRDGLPGLRGEQGLP   1751 - 1820
GPSGPPGLPGKPGEDGKPGLNGKNGEPGDPGEDGRKGEKGDSGASGREGRDGPKGERGAPGILGPQGPPG   1821 - 1890
LPGPVGPPGQGFPGVPGGTGPKGDRGETGSKGEQGLPGERGLRGEPGSVPNVDRLLETAGIKASALREIV   1891 - 1960
ETWDESSGSFLPVPERRRGPKGDSGEQGPPGKEGPIGFPGERGLKGDRGDPGPQGPPGLALGERGPPGPS   1961 - 2030
GLAGEPGKPGIPGLPGRAGGVGEAGRPGERGERGEKGERGEQGRDGPPGLPGTPGPPGPPGPKVSVDEPG   2031 - 2100
PGLSGEQGPPGLKGAKGEPGSNGDQGPKGDRGVPGIKGDRGEPGPRGQDGNPGLPGERGMAGPEGKPGLQ   2101 - 2170
GPRGPPGPVGGHGDPGPPGAPGLAGPAGPQGPSGLKGEPGETGPPGRGLTGPTGAVGLPGPPGPSGLVGP   2171 - 2240
QGSPGLPGQVGETGKPGAPGRDGASGKDGDRGSPGVPGSPGLPGPVGPKGEPGPTGAPGQAVVGLPGAKG   2241 - 2310
EKGAPGGLAGDLVGEPGAKGDRGLPGPRGEKGEAGRAGEPGDPGEDGQKGAPGPKGFKGDPGVGVPGSPG   2311 - 2380
PPGPPGVKGDLGLPGLPGAPGVVGFPGQTGPRGEMGQPGPSGERGLAGPPGREGIPGPLGPPGPPGSVGP   2381 - 2450
PGASGLKGDKGDPGVGLPGPRGERGEPGIRGEDGRPGQEGPRGLTGPPGSRGERGEKGDVGSAGLKGDKG   2451 - 2520
DSAVILGPPGPRGAKGDMGERGPRGLDGDKGPRGDNGDPGDKGSKGEPGDKGSAGLPGLRGLLGPQGQPG   2521 - 2590
AAGIPGDPGSPGKDGVPGIRGEKGDVGFMGPRGLKGERGVKGACGLDGEKGDKGEAGPPGRPGLAGHKGE   2591 - 2660
MGEPGVPGQSGAPGKEGLIGPKGDRGFDGQPGPKGDQGEKGERGTPGIGGFPGPSGNDGSAGPPGPPGSV   2661 - 2730
GPRGPEGLQGQKGERGPPGERVVGAPGVPGAPGERGEQGRPGPAGPRGEKGEAALTEDDIRGFVRQEMSQ   2731 - 2800
HCACQGQFIASGSRPLPSYAADTAGSQLHAVPVLRVSHAEEEERVPPEDDEYSEYSEYSVEEYQDPEAPW   2801 - 2870
DSDDPCSLPLDEGSCTAYTLRWYHRAVTGSTEACHPFVYGGCGGNANRFGTREACERRCPPRVVQSQGTG   2871 - 2940
TAQD                                                                     2941 - 2944
//

Text Mined References (153)

PMID Year Title
26897595 2016 Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa.
26586712 2015 One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa.
26568311 2015 TANGO1 recruits ERGIC membranes to the endoplasmic reticulum for procollagen export.
26476432 2016 Suppression of TGF? and Angiogenesis by Type VII Collagen in Cutaneous SCC.
26472200 2015 Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa.
26066885 2015 Recessive Dystrophic Epidermolysis Bullosa: Advances in the Laboratory Leading to New Therapies.
25689103 2015 Autoantibodies to Multiple Epitopes on the Non-Collagenous-1 Domain of Type VII Collagen Induce Blisters.
25639640 Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.
25566895 Epidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus.
25425313 2015 Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.
24927163 2014 Cancer stem cell differentiation: TGF?1 and versican may trigger molecules for the organization of tumor spheroids.
24810542 2014 The hinge region of type VII collagen is intrinsically disordered.
24794830 2014 A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII.
24732400 2014 Loss of collagen VII is associated with reduced transglutaminase 2 abundance and activity.
24357722 2014 Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes.
24317394 2014 Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa.
24252097 2014 Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.
24213372 2014 De novo anti-type VII collagen antibodies in patients with recessive dystrophic epidermolysis bullosa.
24210835 2014 Genotype-oropharyngeal phenotype correlation in Mexican patients with dystrophic epidermolysis bullosa.
24127822 2013 Anti-type VII collagen autoantibodies, detected by enzyme-linked immunosorbent assay, fluctuate in parallel with clinical severity in patients with epidermolysis bullosa acquisita.
24117545 Bullous dermolysis of the newborn: four new cases and clinical review.
23947675 2013 Keratinocyte cell lines derived from severe generalized recessive epidermolysis bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo.
23834951 2013 Type VII collagen associated with the basement membrane of amniotic epithelium forms giant anchoring rivets which penetrate a massive lamina reticularis.
23769655 2013 Genetic analysis of epidermolysis bullosa: identification of mutations in LAMB3 and COL7A1 genes in three families.
23688405 2013 The largest family of the Americas with dominant dystrophic epidermolysis bullosa pruriginosa: a 18-year longitudinal genotype-phenotype study.
23679163 2013 Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.
23624125 2013 A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.
23591773 2013 Global remodelling of cellular microenvironment due to loss of collagen VII.
23397949 2013 Four novel and two recurrent glycine substitution mutations in the COL7A1 gene in Chinese patients with epidermolysis bullosa pruriginosa.
23226319 2012 Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.
23154389 2013 Regulation of endodermal differentiation of human embryonic stem cells through integrin-ECM interactions.
23106673 Epidermolysis bullosa pruriginosa: further clarification of the phenotype.
22974128 2013 Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.
22757647 2013 Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
22515571 An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
22266148 Novel and recurrent COL7A1 mutation in a Polish population.
22261194 2012 Proteomics analysis of cardiac extracellular matrix remodeling in a porcine model of ischemia/reperfusion injury.
22209565 2012 Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
22070715 2011 Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen.
21879237 2012 Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
21658117 2011 Two cases of recessive dystrophic epidermolysis bullosa diagnosed as severe generalized.
21574979 2011 A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
21482078 2011 Development of NC1 and NC2 domains of type VII collagen ELISA for the diagnosis and analysis of the time course of epidermolysis bullosa acquisita patients.
21448560 2011 Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
21269460 2011 Initial characterization of the human central proteome.
21196708 2011 COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only.
21113014 2011 The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
20920254 2010 A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.
20598510 2010 Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.
20555349 2010 Inversa dystrophic epidermolysis bullosa is caused by missense mutations at specific positions of the collagenic domain of collagen type VII.
20184583 2010 The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
20108428 2010 Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
19945621 2010 Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.
19681861 2009 Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
19665875 2009 Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
19486043 2009 A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.
19435799 2009 Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.
19422682 2009 Collagen mRNA levels changes during colorectal cancer carcinogenesis.
19367581 2010 Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
19269366 2009 TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites.
19250433 A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.
19197535 2009 New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.
18558993 2008 Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
18496702 2008 Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis.
18450758 2008 Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.
18440202 2008 Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation.
18429782 Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
18374850 2008 [Localised de novo dominant dystrophic epidermolysis bullosa].
18331784 2009 Clinical significance of LAMB3 and COL7A1 mRNA in esophageal squamous cell carcinoma.
17916216 2007 COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.
17900868 2008 A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family.
17525268 2007 The cartilage matrix protein subdomain of type VII collagen is pathogenic for epidermolysis bullosa acquisita.
17495952 2007 Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
17425959 2007 Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.
17336503 2007 A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa.
17229600 A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family.
17106611 2006 Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene.
16971478 2007 Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16923137 2006 Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).
16500083 2006 Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.
16470588 2006 Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing.
15888141 2005 High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.
15816848 2005 Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
15810887 2005 Keratinocyte-specific modulation of type VII collagen gene expression by pro-inflammatory cytokines (tumor necrosis factor-alpha and interleukin-1beta).
15774758 2005 Type VII collagen is required for Ras-driven human epidermal tumorigenesis.
15365990 2004 Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
15113589 2004 The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
14727126 2004 Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations.
12787118 2003 Identification of COL7A1 alternative splicing inserting 9 amino acid residues into the fibronectin type III linker domain.
12727020 2003 Epidermal basement membrane zone components: ultrastructural distribution and molecular interactions.
12485454 2002 Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
12353709 2002 A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa.
11986329 2002 Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen.
11874498 2002 EB simplex superficialis resulting from a mutation in the type VII collagen gene.
11843659 2002 Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.
11168577 2001 Downregulation of human type VII collagen (COL7A1) promoter activity by dexamethasone. Identification of a glucocorticoid receptor binding region.
11167698 2001 Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.
11142768 2000 Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.
10836608 2000 A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
10821839 2000 Development and characterization of a recombinant truncated type VII collagen "minigene". Implication for gene therapy of dystrophic epidermolysis bullosa.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10652000 2000 Basement membrane zone remodeling during appendageal development in human fetal skin. The absence of type VII collagen is associated with gelatinase-A (MMP2) activity.
10620140 2000 Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.
10583163 1999 Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing.
10504458 1999 Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
10469344 1999 Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype.
10383749 1999 Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
10233777 1999 Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).
10232408 1999 Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.
10232407 1999 Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.
10232406 1999 Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?
10084325 1999 Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.
9989793 1999 NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats.
9892921 1998 A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
9881948 1998 Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene.
9856844 1998 Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.
9856843 1998 Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
9840442 1998 Two-hybrid analysis reveals multiple direct interactions for thrombospondin 1.
9804332 1998 Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
9740253 1998 Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.
9668111 1998 Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.
9444387 1997 Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa.
9375848 1997 Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
9326325 1997 Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
9245798 1997 Laminin 5 binds the NC-1 domain of type VII collagen.
9215684 1997 Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
9169408 1997 Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skin.
8757758 1996 Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
8644730 1996 Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.
8644729 1996 Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
8618021 1996 Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.
8618018 1996 Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.
8592061 1996 Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.
8541842 1995 Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
8513326 1993 A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.
8499916 1993 The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene.
8422754 1993 Localization of the human collagen gene COL7A1 to 3p21.3 by fluorescence in situ hybridization.
8170945 1994 Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.
8088784 1994 Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene.
8051117 1994 Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms.
7963647 1994 Type VII collagen specifically binds fibronectin via a unique subdomain within the collagenous triple helix.
7883979 1995 Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
7861014 1995 A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.
7513737 1994 Epitope mapping for epidermolysis bullosa acquisita autoantibody by molecularly cloned cDNA for type VII collagen.
5910871 1966 Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome.
2653224 1989 Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome.
2537292 1989 Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin.
1871109 1991 Human type VII collagen: cDNA cloning and chromosomal mapping of the gene.
1567409 1992 Molecular cloning and characterization of type VII collagen cDNA.
1469284 1992 Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix.
1307247 1992 The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor.