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Collagen, type VII, alpha 1

COL7A1, EBRI
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, POLYMERASE, ACID, Nail
Papers on COL7A1
Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa.
Review
New
Tolar et al., Minneapolis, United States. In Transl Res, Feb 2016
Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by mutations in the COL7A1 gene that result in absent or dysfunctional type VII collagen protein production.
Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC.
New
O'Toole et al., London, United Kingdom. In J Natl Cancer Inst, Jan 2016
BACKGROUND: Individuals with severe generalized recessive dystrophic epidermolysis bullosa (RDEB), an inherited blistering disorder caused by mutations in the COL7A1 gene, develop unexplained aggressive squamous cell carcinomas (SCC).
Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
New
Qasim et al., London, United Kingdom. In J Invest Dermatol, Jan 2016
We demonstrate the feasibility of such an approach using a therapeutic grade, self-inactivating-lentiviral vector, encoding codon-optimized COL7A1, to transduce RDEB fibroblasts under conditions suitable for clinical application.
Injury-driven Stiffening of the Dermis Expedites Skin Carcinoma Progression.
New
Bruckner-Tuderman et al., Freiburg, Germany. In Cancer Res, Jan 2016
Analysis of RDEB patient samples suggested that premalignant changes to the dermal microenvironment drive tumor progression, which led us to subject a COL7A1 hypomorphic mouse model of RDEB to chemical carcinogenesis.
Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation.
New
Hovnanian et al., Paris, France. In Br J Dermatol, Dec 2015
All DEB result from mutations in the COL7A1 gene encoding type VII collagen (C7) forming anchoring fibrils(2) .
One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa.
New
Derakhshan et al., Tabrīz, Iran. In Ann Clin Lab Sci, Sep 2015
Recessive dystrophic epidermolysis bullosa (RDEB) is an extremely rare subtype of bullous dermatosis caused by the COL7A1 gene mutation.
Placenta-based therapies for the treatment of epidermolysis bullosa.
Review
New
Tolar et al., Minneapolis, United States. In Cytotherapy, Jun 2015
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe blistering skin disease caused by mutations in the COL7A1 gene.
Epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation.
Review
New
Pope et al., Hamilton, Canada. In Am J Clin Dermatol, Apr 2015
These clinical findings have been attributed to various mutations in the COL7A1 gene.
Update on the pathogenesis of squamous cell carcinoma development in recessive dystrophic epidermolysis bullosa.
Review
New
Murrell et al., Sydney, Australia. In Eur J Dermatol, Apr 2015
Recessive dystrophic epidermolysis bullosa (RDEB) is a recessively inherited blistering disorder due to mutations in the collagen VII gene, COL7A1.
Dystrophic epidermolysis bullosa: a review.
Review
Shinkuma, Sapporo, Japan. In Clin Cosmet Investig Dermatol, 2014
Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen.
Osteogenic Profile of Mesenchymal Cell Populations Contributing to Alveolar Bone Formation.
Matalová et al., Brno, Czech Republic. In Cells Tissues Organs, 2013
These results showed a statistically significant increase in the expression of the genes Fgf3, Ctsk, Icam-1, Mmp9, Itga3 and Tuft1, and of a wide range of collagens (Col1a2, Col3a1, Col7a1, Col12a1, Col14a1).
Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
GeneRIF
Conget et al., In J Dermatol Sci, 2012
Letter: report novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
GeneRIF
Zhu et al., Beijing, China. In Acta Derm Venereol, 2012
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.
Novel and recurrent COL7A1 mutation in a Polish population.
GeneRIF
Bal et al., Warsaw, Poland. In Eur J Dermatol, 2012
We present the first COL7A1 mutation analysis in Polish dystrophic epidermolysis bullosa patients.
Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen.
GeneRIF
Murrell et al., Sydney, Australia. In Australas J Dermatol, 2011
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.
Two cases of recessive dystrophic epidermolysis bullosa diagnosed as severe generalized.
GeneRIF
Aoyama et al., Gifu, Japan. In J Dermatol, 2011
Two cases of recessive dystrophic epidermolysis bullosa revealed heteroallelic recessive mutations which resulted in premature termination codons.
Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.
Impact
Tolar et al., Minneapolis, United States. In N Engl J Med, 2010
BACKGROUND: Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease caused by mutations in COL7A1, the gene encoding type VII collagen (C7).
Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.
Impact
Woodley et al., Los Angeles, United States. In Nat Genet, 2002
Dystrophic epidermolysis bullosa (DEB) is a family of inherited mechano-bullous disorders caused by mutations in the human type VII collagen gene (COL7A1).
Stable nonviral genetic correction of inherited human skin disease.
Impact
Khavari et al., Stanford, United States. In Nat Med, 2002
These barriers hinder genetic correction of many severe inherited human diseases, such as the blistering skin disorder recessive dystrophic epidermolysis bullosa (RDEB), caused by mutations in the large COL7A1 gene.
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa.
Impact
Goossens et al., Créteil, France. In Nat Genet, 1993
We recently linked HS-RDEB to the type VII collagen gene (COL7A1) which encodes the major component of AF.
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