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GeneWiki for Col7a1:
GeneNetwork:
1.
Enriched in Bowmann's layer.
GeneRIF from NCBI:
1.
transforming growth factor beta1 stimulation of Col7a1 transcription is dependent on a putative interaction between Smads and AP1. (Mus musculus) PubMed
2.
single amino acid substitutions in procollagen VII alter its self-assembly (Mus musculus) PubMed
3.
All mice developed circulating IgG autoantibodies that recognized type VII collagen and bound to the lamina densa of the dermal-epidermal junction[type VII collagen] (Mus musculus) PubMed
4.
Results describe the generation of a collagen VII alpha 1 hypomorphic mouse that serves as an immunocompetent animal model for dystrophic epidermolysis bullosa. (Mus musculus) PubMed
5.
An interaction of mvWFA2 with its neighboring domain mFNIII-9 was characterized with NMR spectroscopy and SPR (Mus musculus) PubMed
6.
Tissue-bound, but not circulating, complement-fixing COL7-specific autoantibodies are associated with T helper type (Th)1 cell type cytokine expression and response in mice seusceptible to epidermolysis bullosa acquisita. (Mus musculus) PubMed
7.
COL7 regulates ameloblast differentiation and is essential for the formation of Tomes' processes. (Mus musculus) PubMed
8.
COL7A1 is required for re-epithelialization through organization of laminin-332 at the dermal-epidermal junction during wound healing. (Mus musculus) PubMed
9.
The cystine knot is N-terminal to the collagen triple helix in in collagen type VII and IX and therefore probably impedes unfolding of the collagen triple helix from the N terminus. (Mus musculus) PubMed
10.
The identified mutation causes a premature stop codon which leads to a truncated protein representing a complete loss of COL7A1 function (p.R1586*). We thus have identified a candidate causative (Mus musculus) PubMed
11.
autoantibodies to COL7, independent of the targeted epitopes, induce blisters both ex vivo and in vivo (Mus musculus) PubMed
12.
miR-29 Regulates COL7A1 in Recessive Dystrophic Epidermolysis Bullosa, directly through targeting its 3' untranslated region at two distinct seed regions and indirectly through targeting an essential transcription factor required for basal COL7A1 expression, SP1 (Mus musculus) PubMed
13.
this study reveals a novel COL7A1 variant causing recessive dystrophic epidermolysis bullosa. (Mus musculus) PubMed
14.
Study provides evidence that a nonsense mutation in the COL7A1 gene causes recessive epidermolysis bullosa in Vorderwald and Rotes Hohenvieh cattle. (Mus musculus) PubMed
15.
specifically binds and sequesters the innate immune activator cochlin in the lumen of lymphoid conduits (Mus musculus) PubMed
16.
Biophysical characterization of a pathogenic type VII collagen mutant is presented. The pathogenic mutant lowers thermal stability of the type VII collagen domain. Due to unfolding, protease cleavage sites in the domain become accessible. (Mus musculus) PubMed
17.
A spontaneous glycine to aspartic acid substitution, p.G1867D, within the main structural domain of collagen VII is associated with dominant dystrophic epidermolysis bullosa. (Rattus norvegicus) PubMed
18.
Observational study of genotype prevalence. (HuGE Navigator) (Homo sapiens) PubMed
19.
Observational study of gene-disease association. (HuGE Navigator) (Homo sapiens) PubMed
20.
Observational study of gene-disease association. (HuGE Navigator) (Homo sapiens) PubMed
21.
Observational study of gene-disease association. (HuGE Navigator) (Homo sapiens) PubMed
22.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) (Homo sapiens) PubMed
23.
glycine substitution mutations in COL7A1 are associated with dominant familial dystrophic toenail changes (Homo sapiens) PubMed
24.
bone morphogenetic protein-1 (BMP-1), which exhibits procollagen C-proteinase activity, cleaves the C-terminal propeptide from human procollagen VII (Homo sapiens) PubMed
25.
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. (Homo sapiens) PubMed
26.
A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa. (Homo sapiens) PubMed
27.
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. (Homo sapiens) PubMed
28.
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. (Homo sapiens) PubMed
29.
identical COL7A1 glycine substitutions can cause remarkably heterogeneous clinical phenotypes (Homo sapiens) PubMed
30.
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. (Homo sapiens) PubMed
31.
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 (Homo sapiens) PubMed
32.
TNF-alpha and IL-1beta enhance the TGF-beta-mediated up-regulation of COL7A1 expression in HaCaT keratinocytes (Homo sapiens) PubMed
33.
Spectrum of mutations in dystrophic epidermolysis bullosa and cryptic splicing (Homo sapiens) PubMed
34.
COL7A1 hemizygosity and a missense mutation with complex effects on splicing may be causative in recessive dystrophic epidermolysis bullosa (Homo sapiens) PubMed
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. (Homo sapiens) PubMed
37.
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. (Homo sapiens) PubMed
38.
Epidermolysis bullosa pruriginosa due to a glycine substitution missense mutation in the COL7A1-gene (Homo sapiens) PubMed
39.
Glycine subsstitution in this protein underlies mild recessive dystrophic epidermolysis bullosa, showing that type VII collagen is tolefant of heterozygous glycine substitution. (Homo sapiens) PubMed
40.
description of a novel glycine substitution mutation in COL7A1 in a Chinese pedigree with dominant epidermolysis bullosa pruriginosa (Homo sapiens) PubMed
41.
We report 14 Australian families with different forms of dystrophic epidermolysis bullosa (DEB) with 23 different COL7A1 allelic variants, nine of which were novel. (Homo sapiens) PubMed
42.
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. (Homo sapiens) PubMed
43.
Data show that the cartilage matrix protein subdomain of type VII collagen is pathogenic for epidermolysis bullosa acquisita. (Homo sapiens) PubMed
44.
Identify novel mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa in a Chinese family. More severe phenotype observed in female members. (Homo sapiens) PubMed
45.
Mutational analysis revealed 30 pathogenic COL7A1 mutations among a total of 33 allels, identifying 10 novel and 14 previously adentified mutations. (Homo sapiens) PubMed
46.
The expression of COL7A1 mrna was higher in malignant tissue and was correlated with depth of tumor invasion and lymphatic invasion in ESCC. (Homo sapiens) PubMed
47.
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 (Homo sapiens) PubMed
48.
Mutations in the gene for collagen VII (COL7A1) have been documented in both types of dystrophic epidermolysis bullosa. (Homo sapiens) PubMed
49.
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. (Homo sapiens) PubMed
50.
known recessive DEB C7 mutations perturb critical functions of the C7 molecule and may have a role in dystrophic epidermolysis bullosa (Homo sapiens) PubMed
51.
linked to dystrophic epidermolysis bullosa in Tunisian consanguineous families (Homo sapiens) PubMed
52.
characterization of COL7A1 mutations in dystrophic epidermolysis bullosa [review] (Homo sapiens) PubMed
53.
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. (Homo sapiens) PubMed
54.
novel glycine substitution mutation in the COL7A1 gene in three affected family members with dystrophic epidermolysis bullosa (Homo sapiens) PubMed
55.
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. (Homo sapiens) PubMed
56.
Results describe the effect of loss of collage type VII on squamous cell carcinoma tumourigenesis using RNA interference in a 3D organotypic skin model. (Homo sapiens) PubMed
57.
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. (Homo sapiens) PubMed
58.
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 (Homo sapiens) PubMed
59.
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. (Homo sapiens) PubMed
60.
new variants of COL7A1 mutations underlying epidermolysis bullosa pruriginosa (Homo sapiens) PubMed
61.
six new genetic mutations were found in collagen type VII for inversa dystropic epidermolysis bullosa (Homo sapiens) PubMed
62.
Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. (Homo sapiens) PubMed
63.
Observational study of gene-disease association. (HuGE Navigator) (Homo sapiens) PubMed
64.
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. (Homo sapiens) PubMed
65.
Recessive dystrophic epidermolysis bullosa-I is associated with specific recessive arginine and glycine substitutions in the triple helix domain of type VII collagen. (Homo sapiens) PubMed
66.
novel compound heterozygous recessive COL7A1 missense mutations in 2 siblings presenting different Dystrophic epidermolysis bullosa clinical subtypes (Homo sapiens) PubMed
67.
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. (Homo sapiens) PubMed
68.
NC1 and NC2 domains of type VII collagen have a role in of epidermolysis bullosa acquisita (Homo sapiens) PubMed
69.
Two cases of recessive dystrophic epidermolysis bullosa revealed heteroallelic recessive mutations which resulted in premature termination codons. (Homo sapiens) PubMed
70.
Mutation in this gene results in skipping of exon 87 leading to aberrant splicing of this exon. (Homo sapiens) PubMed
71.
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. (Homo sapiens) PubMed
72.
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. (Homo sapiens) PubMed
73.
We present the first COL7A1 mutation analysis in Polish dystrophic epidermolysis bullosa patients. (Homo sapiens) PubMed
74.
Letter: report novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa. (Homo sapiens) PubMed
75.
novel disease-causing mutations in the COL7A1 gene (Homo sapiens) PubMed
76.
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. (Homo sapiens) PubMed
77.
We report six Chinese cases with Epidermolysis Bullosa Pruriginosa, who had four novel and two previously reported mutations leading to glycine substitutions of COL7A1. (Homo sapiens) PubMed
78.
Mutation in COL7A1 caused a broad range of severity of disease in a family with pretibial epidermolysis bullosa. (Homo sapiens) PubMed
79.
Loss of collagen VII has a global impact on the cellular microenvironment in recessive dystrophic epidermolysis bullosa patients. (Homo sapiens) PubMed
80.
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. (Homo sapiens) PubMed
81.
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. (Homo sapiens) PubMed
82.
Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa. (Homo sapiens) PubMed
83.
We report the first case of HS-RDEB homozygous PTC mutations of 5818delC in both COL7A1 alleles. (Homo sapiens) PubMed
84.
immortalized and cloned recessive dystrophic epidermolysis bullosa keratinocytes carrying the c.6527insC mutation (Homo sapiens) PubMed
85.
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. (Homo sapiens) PubMed
86.
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. (Homo sapiens) PubMed
87.
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 (Homo sapiens) PubMed
88.
analysis of COL7A1 mutations in patients with recessive dystrophic epidermolysis bullosa (Homo sapiens) PubMed
89.
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. (Homo sapiens) PubMed
90.
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. (Homo sapiens) PubMed
91.
SLCO1B3 expression and promoter activity are modulated by COL7A1 in tumor keratinocytes isolated from recessive dystrophic epidermolysis bullosa. (Homo sapiens) PubMed
92.
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. (Homo sapiens) PubMed
93.
TGM2 was identified as a stable interaction partner of collagen VII and is reduced in recessive dystrophic epidermolysis bullosa. (Homo sapiens) PubMed
94.
Case Report: hot spot mutation c.6127G>A in COL7A1 leads to dominant dystrophic epidermolysis bullosa associated with intracellular accumulation of pro-collagean VII. (Homo sapiens) PubMed
95.
Study demonstrated that versican, TGFbeta1, Col7A1 and ITGbeta3 are up-regulated in isolated Cancer stem cells. (Homo sapiens) PubMed
96.
anti-type VII collagen autoantibodies fluctuated in parallel with disease activity in epidermolysis bullosa acquisita (Homo sapiens) PubMed
97.
The central collagenous domain of Col7 contains several interruptions of the collagen triple helix (Homo sapiens) PubMed
98.
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 (Homo sapiens) PubMed
99.
autoantibodies to COL7, independent of the targeted epitopes, induce blisters both ex vivo and in vivo (Homo sapiens) PubMed
100.
Gene therapy is successful in the treatment of hereditary epidermolysis bullosa dystrophica. (Homo sapiens) PubMed
101.
A novel dominantnegative heterozygous acceptor splice site mutation in the COL7A1 gene (IVS671G>T) was found in both our patient and his youngest son. (Homo sapiens) PubMed
102.
Collagen Type VII missense mutation is responsible for the development of recessive bullous epidermolysis. (Homo sapiens) PubMed
103.
COL7A1 mutation was diagnosed with next generation sequencing in patient with dystrophic epidermolysis bullosa. (Homo sapiens) PubMed
104.
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. (Homo sapiens) PubMed
105.
COL7A1 mutations have a role in Recessive Dystrophic Epidermolysis Bullosa and can be corrected meganuclease-mediated homology-directed repair (Homo sapiens) PubMed
106.
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 (Homo sapiens) PubMed
107.
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. (Homo sapiens) PubMed
108.
TANGO1 is thus pivotal in concentrating procollagen VII in the lumen and recruiting ERGIC membranes on the cytoplasmic surface of the endoplasmic reticulum. (Homo sapiens) PubMed
109.
This study is conducive to highlighting the phenotypic diversity of EBP, expanding the database on COL7A1 mutations in EBP and laying the foundation for this family's prenatal genetic counselling. (Homo sapiens) PubMed
110.
The results in these two brothers show that COL7A1 mutation leads to persistent blistering in adulthood indicating that DEB may persist throughout life in a mild form. (Homo sapiens) PubMed
111.
A total of 50% of the pro-alpha1 (VII) procollagen chains will contain the dominant COL7A1 mutation if a DDEB patient carries one mutant COL7A1 in 100% of skin cells, which will lead to dystrophic epidermolysis bullosa (Homo sapiens) PubMed
112.
miR-29 Regulates COL7A1 in Recessive Dystrophic Epidermolysis Bullosa, directly through targeting its 3' untranslated region at two distinct seed regions and indirectly through targeting an essential transcription factor required for basal COL7A1 expression, SP1. (Homo sapiens) PubMed
113.
COL7A1 harbored mutations in the overwhelming majority of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian cohort were consistent with autosomal recessive inheritance. Ninety percent of these mutations were homozygous recessive, reflecting consanguinity in these families. (Homo sapiens) PubMed
114.
Case Report: glycine substitution specific to COL7A1, exon 110, was identified in a Chinese family with epidermolysis bullosa pruriginosa. (Homo sapiens) PubMed
115.
we have identified a novel glycine substitution mutation of the COL7A1 gene in two unrelated Scottish families with a DDEB phenotype. This mutation abolishes the donor splice site and results in in-frame exon skipping. This leads to dominant negative interference between the wild-type and truncated-type collagen proteins resulting in a mild phenotype. (Homo sapiens) PubMed
116.
expression restored to recessive dystrophic epidermolysis bullosa skin by topical gene therapy (Homo sapiens) PubMed
117.
Patients with RDEB carry mutations in the COL7A1 gene encoding for type VII collagen, the main component of anchoring fibrils, microstructures responsible for the anchorage of the epidermis to the underlying dermis. [review] (Homo sapiens) PubMed
118.
COL7A1 editing via CRISPR/Cas9 in recessive dystrophic epidermolysis bullosa patients' keratinocytes in vitro has been reported. (Homo sapiens) PubMed
119.
specifically binds and sequesters the innate immune activator cochlin in the lumen of lymphoid conduits (Homo sapiens) PubMed
120.
Type VII collagen is distributed particularly at the strained parts of the accommodation system. Type VII collagen was associated with various basement membranes and with ciliary zonules. (Homo sapiens) PubMed
121.
three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene developed different clinical forms of dystrophic epidermolysis bullosa-epidermolysis bullosa pruriginosa and mild recessive non-Hallopeau-Siemens. (Homo sapiens) PubMed
122.
High chimeric COL7A1-UCN2 recurrence is associated with cancer stem cell transition, promoted epithelial-mesenchymal transition in laryngeal cancer. (Homo sapiens) PubMed
123.
Mutation in COL7A1 gene is associated with Recessive Dystrophic Epidermolysis Bullosa. (Homo sapiens) PubMed
124.
Case Report: Epidermolysis ullosa acquisita with previously unrecognized mild dystrophic EB and biallelic COL7A1 missense mutations. (Homo sapiens) PubMed
125.
In summary, we present 7 novel COL7A1 mutations in a cohort of 17 Mexican RDEB patients, expanding the mutation spectrum in this disease. (Homo sapiens) PubMed
126.
Case report of 2 potentially pathogenic variants in COL7A1 occurring on the same allele in members of a family with epidermolysis bullosa pruriginosa and autosomal dominant inheritance. (Homo sapiens) PubMed
127.
In summary, we have found a novel mutation of COL7A1 gene in Chinese patients with DEBPr. (Homo sapiens) PubMed
128.
In both the cases, the variants p.G2692D, p.Q1571* and p.G1667E in the COL7A1 were not previously reported in 1000 genome, Exome Aggregation Consortium (ExAC), Alleles in Middle East and North Africa (al mena) or in a in-house database of over 1000 exomes and genomes from South Asia. (Homo sapiens) PubMed
129.
Study reports novel COL7A1 mutation c.5327G>T (p.G1776V) in patient with dominant dystrophic epidermolysis bullosa-bullous dermolysis of the newborn whose affected family members had typical dominant dystrophic epidermolysis bullosa, nails only. (Homo sapiens) PubMed
130.
Our strategy could potentially be extended to a large number of COL7A1 mutation-bearing exons within the long collagenous domain of this gene, opening the way to precision medicine for Recessive Dystrophic Epidermolysis Bullosa (Homo sapiens) PubMed
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