Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen
about
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosaCompound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentitionFibulin-2 binds to the short arms of laminin-5 and laminin-1 via conserved amino acid sequencesGeneralized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?Molecular pathology of the cutaneous basement membrane zone.Induction of dermal-epidermal separation in mice by passive transfer of antibodies specific to type VII collagen.The genetics of human skin disease.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 locusGlycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.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.Proinflammatory Cytokines and Antiskin Autoantibodies in Patients With Inherited Epidermolysis Bullosa.Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.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.Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?Immunodissection of the connective tissue matrix in human skin.A Japanese case of de novo dominant dystrophic epidermolysis bullosa.Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.Clinical phenotype of Bart's syndrome seen in a family with dominant dystrophic epidermolysis bullosa.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.
P2860
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P2860
Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen
description
1994 nî lūn-bûn
@nan
1994 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@ast
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@en
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@en-gb
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@nl
type
label
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@ast
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@en
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@en-gb
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@nl
prefLabel
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@ast
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@en
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@en-gb
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@nl
P2093
P2860
P921
P356
P1476
Dominant dystrophic epidermoly ...... al domain of type VII collagen
@en
P2093
A M Christiano
M Ryynänen
P2860
P304
P356
10.1073/PNAS.91.9.3549
P407
P577
1994-04-26T00:00:00Z