Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.
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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 bullosaAdvances in understanding and treating dystrophic epidermolysis bullosaInteractions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skinMutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosaGenetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.Extracellular matrix molecules: potential targets in pharmacotherapy.Laminins and human disease.Elevated expression of type VII collagen in the skin of patients with systemic sclerosis. Regulation by transforming growth factor-betaThe 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.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.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.Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)From marrow to matrix: novel gene and cell therapies for epidermolysis bullosa.Common interruptions in the repeating tripeptide sequence of non-fibrillar collagens: sequence analysis and structural studies on triple-helix peptide models.Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.The recombinant expression of full-length type VII collagen and characterization of molecular mechanisms underlying dystrophic epidermolysis bullosa.Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression.Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.Using Urgotul dressing for the management of epidermolysis bullosa skin lesions.The carboxyl terminus of type VII collagen mediates antiparallel dimer formation and constitutes a new antigenic epitope for epidermolysis Bullosa acquisita autoantibodies.Collagens and their abnormalities in a wide spectrum of diseases.Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases.Development and characterization of a recombinant truncated type VII collagen "minigene". Implication for gene therapy of dystrophic epidermolysis bullosa.Lessons from skin blistering: molecular mechanisms and unusual patterns of inheritance?Intraepidermal expression of basement membrane components in the lesional skin of a patient with dystrophic epidermolysis bullosa.Tissue engineering of tumor stromal microenvironment with application to cancer cell invasion.A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.A case of dystrophic epidermolysis bullosa: surgical treatment for hand contracture using abdominal skin flap.A multitask clustering approach for single-cell RNA-seq analysis in Recessive Dystrophic Epidermolysis Bullosa.
P2860
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P2860
Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
Genetic linkage of recessive d ...... to the type VII collagen gene.
@ast
Genetic linkage of recessive d ...... to the type VII collagen gene.
@en
type
label
Genetic linkage of recessive d ...... to the type VII collagen gene.
@ast
Genetic linkage of recessive d ...... to the type VII collagen gene.
@en
prefLabel
Genetic linkage of recessive d ...... to the type VII collagen gene.
@ast
Genetic linkage of recessive d ...... to the type VII collagen gene.
@en
P2093
P2860
P356
P1476
Genetic linkage of recessive d ...... to the type VII collagen gene.
@en
P2093
C Blanchet-Bardon
L Dubertret
M Goossens
P Duquesnoy
R G Knowlton
P2860
P304
P356
10.1172/JCI115916
P407
P577
1992-09-01T00:00:00Z