Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
about
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase geneOrder of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type IThe 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.An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.Ehlers-Danlos syndrome has varied molecular mechanisms.Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report.cDNA cloning and expression of bovine procollagen I N-proteinase: a new member of the superfamily of zinc-metalloproteinases with binding sites for cells and other matrix components.Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility.Assembly of cartilage collagen fibrils is disrupted by overexpression of normal type II collagen in transgenic mice.In vitro mutagenesis of Caenorhabditis elegans cuticle collagens identifies a potential subtilisin-like protease cleavage site and demonstrates that carboxyl domain disulfide bonding is required for normal function but not assembly.Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.Emerging Roles of ADAMTSs in Angiogenesis and Cancer.Dermatosparaxis in two Limousin calvesMolecular properties and fibril ultrastructure of types II and XI collagens in cartilage of mice expressing exclusively the α1(IIA) collagen isoform.Learning how mutations in type I collagen genes cause connective tissue disease.
P2860
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P2860
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
description
1992 nî lūn-bûn
@nan
1992 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
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
name
Human dermatosparaxis: a form ...... peptide of type I procollagen.
@ast
Human dermatosparaxis: a form ...... peptide of type I procollagen.
@en
type
label
Human dermatosparaxis: a form ...... peptide of type I procollagen.
@ast
Human dermatosparaxis: a form ...... peptide of type I procollagen.
@en
prefLabel
Human dermatosparaxis: a form ...... peptide of type I procollagen.
@ast
Human dermatosparaxis: a form ...... peptide of type I procollagen.
@en
P2093
P2860
P1476
Human dermatosparaxis: a form ...... peptide of type I procollagen.
@en
P2093
I M Braverman
L M Milstone
M R Seashore
T G Jenkins
W Wertelecki
P2860
P304
P407
P577
1992-08-01T00:00:00Z