Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.
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Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagenEndorepellin laminin-like globular 1/2 domains bind Ig3-5 of vascular endothelial growth factor (VEGF) receptor 2 and block pro-angiogenic signaling by VEGFA in endothelial cellsPremature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosaDevelopmental and pathogenic mechanisms of basement membrane assemblyGenetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.Endorepellin evokes autophagy in endothelial cellsLaminins and human disease.Elevated expression of type VII collagen in the skin of patients with systemic sclerosis. Regulation by transforming growth factor-betaDecorin protein core affects the global gene expression profile of the tumor microenvironment in a triple-negative orthotopic breast carcinoma xenograft modelMolecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.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.Endorepellin affects angiogenesis by antagonizing diverse vascular endothelial growth factor receptor 2 (VEGFR2)-evoked signaling pathways: transcriptional repression of hypoxia-inducible factor 1α and VEGFA and concurrent inhibition of nuclear factDecorin induces rapid secretion of thrombospondin-1 in basal breast carcinoma cells via inhibition of Ras homolog gene family, member A/Rho-associated coiled-coil containing protein kinase 1.Decorin-inducible Peg3 Evokes Beclin 1-mediated Autophagy and Thrombospondin 1-mediated AngiostasisEpidermal cell junctions and their regulation by p63 in health and disease.The nature and biology of basement membranes.Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression.Epidermolysis bullosa: pathogenetic pathways from mutations to symptoms.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.Current concepts in electron microscopy.Endorepellin-evoked Autophagy Contributes to Angiostasis.Epidermal and dermal integration into sphere-templated porous poly(2-hydroxyethyl methacrylate) implants in mice.Decorin-evoked paternally expressed gene 3 (PEG3) is an upstream regulator of the transcription factor EB (TFEB) in endothelial cell autophagy.Endothelin-1 induces expression of matrix-associated genes in lung fibroblasts through MEK/ERK.Tissue engineering of tumor stromal microenvironment with application to cancer cell invasion.Autoantibody-induced intestinal inflammation and weight loss in experimental epidermolysis bullosa acquisita.Extracellular matrix: The driving force of mammalian diseases.The chemical composition of tooth enamel in recessive dystrophic epidermolysis bullosa: significance with respect to dental caries.
P2860
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P2860
Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.
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 type VII co ...... th abnormal anchoring fibrils.
@ast
Genetic linkage of type VII co ...... th abnormal anchoring fibrils.
@en
type
label
Genetic linkage of type VII co ...... th abnormal anchoring fibrils.
@ast
Genetic linkage of type VII co ...... th abnormal anchoring fibrils.
@en
prefLabel
Genetic linkage of type VII co ...... th abnormal anchoring fibrils.
@ast
Genetic linkage of type VII co ...... th abnormal anchoring fibrils.
@en
P2093
P2860
P356
P1476
Genetic linkage of type VII co ...... th abnormal anchoring fibrils.
@en
P2093
P2860
P304
P356
10.1172/JCI115680
P407
P577
1992-03-01T00:00:00Z