Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
about
Nature designs tough collagen: explaining the nanostructure of collagen fibrilsInterchain disulfide bonds in procollagen are located in a large nontriple-helical COOH-terminal domainA sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in miceMitral valve prolapse and joint hypermobility: evidence for a systemic connective tissue abnormality?Inheritance of Ehlers-Danlos type IV syndrome.The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen.Ehlers-Danlos syndrome has varied molecular mechanisms.Molecular abnormalities of collagen.Diseases of the collagen moleculeIncreased collagen synthesis by scleroderma skin fibroblasts in vitro: a possible defect in the regulation or activation of the scleroderma fibroblastMutations in collagen genes. Consequences for rare and common diseasesPseudoxanthoma elasticum and acrosclerosis.Simultaneous synthesis of types I and III collagen by fibroblasts in culture.Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.Patients with Ehlers-Danlos syndrome type IV lack type III collagen.Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.Processing of types I and III procollagen in Ehlers-Danlos syndrome type VII.Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI.Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility.Acquired and heritable defects in collagen synthesis and fibrogenesis.Aortic valve replacement in a case of Ehlers Danlos syndrome.Feedback regulation of collagen gene expression: a Trojan horse approach.Connective tissue diseases in the skin--from molecules to symptoms.The Ehlers-Danlos syndromes, rare types.Molecular and clinical aspects of connective tissue.Genetic disorders of collagenMolecular defects of collagen metabolism in the Ehlers-Danlos syndrome.Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.Learning how mutations in type I collagen genes cause connective tissue disease.Low rate of procollagen conversion in dermatosparactic sheep fibroblasts is paralleled by increased synthesis of type I and type III collagens.A defective cell surface collagen-binding protein in dermatosparactic sheep fibroblasts.Inherited abnormalities of collagen.Amino acid sequence of the N-terminal non-collagenous segment of dermatosparactic sheep procollagen type I.In vitro fibrillogenesis of collagen II from pig vitreous humour.Biochemical characterization of individual normal, floppy and rheumatic human mitral valves.Purification of human procollagen type III N-proteinase from placenta and preparation of antiserum.
P2860
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P2860
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
description
1973 nî lūn-bûn
@nan
1973年の論文
@ja
1973年学术文章
@wuu
1973年学术文章
@zh
1973年学术文章
@zh-cn
1973年学术文章
@zh-hans
1973年学术文章
@zh-my
1973年学术文章
@zh-sg
1973年學術文章
@yue
1973年學術文章
@zh-hant
name
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
@en
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
@nl
type
label
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
@en
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
@nl
prefLabel
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
@en
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
@nl
P2093
P1433
P1476
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
@en
P2093
Lichtenstein JR
McKusick VA
P304
P356
10.1126/SCIENCE.182.4109.298
P407
P577
1973-10-01T00:00:00Z