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
about
Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagenPremature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosaMutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosaSome, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.Elevated expression of type VII collagen in the skin of patients with systemic sclerosis. Regulation by transforming growth factor-betaCharacterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain.Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.Epidermolysis bullosa acquisita.Epidermolysis bullosa: pathogenetic pathways from mutations to symptoms.The carboxyl terminus of type VII collagen mediates antiparallel dimer formation and constitutes a new antigenic epitope for epidermolysis Bullosa acquisita autoantibodies.Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases.Biosynthesis of bikunin proteins in the human carcinoma cell line HepG2 and in primary human hepatocytes. Polypeptide assembly by glycosaminoglycan.Structural proteins of the dermal-epidermal junction targeted by autoantibodies in pemphigoid diseases.Serum levels of anti-type VII collagen antibodies detected by enzyme-linked immunosorbent assay in patients with epidermolysis bullosa acquisita are correlated with the severity of skin lesions.
P2860
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P2860
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
description
1993 nî lūn-bûn
@nan
1993 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի մարտին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
The carboxyl-terminal half of ...... ding region of the COL7A1 gene
@ast
The carboxyl-terminal half of ...... ding region of the COL7A1 gene
@en
The carboxyl-terminal half of ...... ding region of the COL7A1 gene
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type
label
The carboxyl-terminal half of ...... ding region of the COL7A1 gene
@ast
The carboxyl-terminal half of ...... ding region of the COL7A1 gene
@en
The carboxyl-terminal half of ...... ding region of the COL7A1 gene
@nl
prefLabel
The carboxyl-terminal half of ...... ding region of the COL7A1 gene
@ast
The carboxyl-terminal half of ...... ding region of the COL7A1 gene
@en
The carboxyl-terminal half of ...... ding region of the COL7A1 gene
@nl
P356
P1476
The carboxyl-terminal half of ...... ding region of the COL7A1 gene
@en
P2093
D S Greenspan
P356
10.1093/HMG/2.3.273
P407
P577
1993-03-01T00:00:00Z