Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.
about
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesProteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagenHigh frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosaMutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosaCollagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneysGene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa.Global remodelling of cellular microenvironment due to loss of collagen VII.Common interruptions in the repeating tripeptide sequence of non-fibrillar collagens: sequence analysis and structural studies on triple-helix peptide models.Fluorescent protein markers to tag collagenous proteins: the paradigm of procollagen VII.The recombinant expression of full-length type VII collagen and characterization of molecular mechanisms underlying dystrophic epidermolysis bullosa.Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.Type VII collagen gene mutations (c.8569G>T and c.4879G>A) result in the moderately severe phenotype of recessive dystrophic epidermolysis bullosa in a Korean patient.A Japanese case of de novo dominant dystrophic epidermolysis bullosa.Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
P2860
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P2860
Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Some, but not all, glycine sub ...... fibrils, and skin blistering.
@ast
Some, but not all, glycine sub ...... fibrils, and skin blistering.
@en
type
label
Some, but not all, glycine sub ...... fibrils, and skin blistering.
@ast
Some, but not all, glycine sub ...... fibrils, and skin blistering.
@en
prefLabel
Some, but not all, glycine sub ...... fibrils, and skin blistering.
@ast
Some, but not all, glycine sub ...... fibrils, and skin blistering.
@en
P2093
P2860
P356
P1476
Some, but not all, glycine sub ...... fibrils, and skin blistering.
@en
P2093
Bruckner-Tuderman L
Hammami-Hauasli N
Raghunath M
Schumann H
P2860
P304
19228-19234
P356
10.1074/JBC.273.30.19228
P407
P577
1998-07-01T00:00:00Z