A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
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 bullosaThe extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermisAdvances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport SyndromeOne goal, different strategies--molecular and cellular approaches for the treatment of inherited skin fragility disordersFibulin-2 binds to the short arms of laminin-5 and laminin-1 via conserved amino acid sequencesTwo novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosaEsophageal muscle physiology and morphogenesis require assembly of a collagen XIX-rich basement membrane zoneGeneralized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.Molecular pathology of the cutaneous basement membrane zone.Gene therapy and dermatology: more than just skin deep.Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.Induction of dermal-epidermal separation in mice by passive transfer of antibodies specific to type VII collagen.Mapping complex traits in diseases of the hair and skin.Elevated expression of type VII collagen in the skin of patients with systemic sclerosis. Regulation by transforming growth factor-betaA COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.Blister-inducing antibodies target multiple epitopes on collagen VII in mice.The genetics of human skin disease.No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locusCompound 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.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.A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain.Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexesExperimental models of epidermolysis bullosa acquisita.Autoimmunity against type VII collagen in inflammatory bowel diseaseOral manifestations in the epidermolysis bullosa spectrum.Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes.Epidermal cell junctions and their regulation by p63 in health and disease.A GT-rich sequence binding the transcription factor Sp1 is crucial for high expression of the human type VII collagen gene (COL7A1) in fibroblasts and keratinocytes.Type VII collagen is enriched in the enamel organic matrix associated with the dentin-enamel junction of mature human teeth.Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression.Epidermolysis bullosa: pathogenetic pathways from mutations to symptoms.Keratinocyte-specific modulation of type VII collagen gene expression by pro-inflammatory cytokines (tumor necrosis factor-alpha and interleukin-1beta).The management of dystrophic epidermolysis bullosa.Nail changes in epidermolysis bullosa: clinical and pathogenetic considerations.
P2860
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P2860
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
description
1993 nî lūn-bûn
@nan
1993 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի մայիսին 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
A missense mutation in type VI ...... strophic epidermolysis bullosa
@ast
A missense mutation in type VI ...... strophic epidermolysis bullosa
@en
A missense mutation in type VI ...... strophic epidermolysis bullosa
@nl
type
label
A missense mutation in type VI ...... strophic epidermolysis bullosa
@ast
A missense mutation in type VI ...... strophic epidermolysis bullosa
@en
A missense mutation in type VI ...... strophic epidermolysis bullosa
@nl
prefLabel
A missense mutation in type VI ...... strophic epidermolysis bullosa
@ast
A missense mutation in type VI ...... strophic epidermolysis bullosa
@en
A missense mutation in type VI ...... strophic epidermolysis bullosa
@nl
P2093
P2860
P356
P1433
P1476
A missense mutation in type VI ...... strophic epidermolysis bullosa
@en
P2093
Christiano AM
Hoffman GG
P2860
P2888
P356
10.1038/NG0593-62
P407
P577
1993-05-01T00:00:00Z