An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
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Ehlers-Danlos syndrome type IVA single base mutation in COL5A2 causes Ehlers-Danlos syndrome type IIThe pro-alpha3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chainsCOL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome IIA point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British familiesVariation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helixClassical Ehlers-Danlos syndrome caused by a mutation in type I collagen.COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDSOrder 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 IBiosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertasesRegulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendonDevelopment of a functional skin matrix requires deposition of collagen V heterotrimersEhlers-Danlos syndrome has varied molecular mechanisms.Extracellular matrix molecules: potential targets in pharmacotherapy.Characterization of the six zebrafish clade B fibrillar procollagen genes, with evidence for evolutionarily conserved alternative splicing within the pro-alpha1(V) C-propeptide.Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.Cervical collagen and biomechanical strength in non-pregnant women with a history of cervical insufficiency.Collagens and collagen-related diseases.The Ehlers-Danlos syndrome: on beyond collagensNull alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsMolecular mechanisms of classical Ehlers-Danlos syndrome (EDS).Interstitial and vascular type V collagen morphologic disorganization in usual interstitial pneumonia.Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.Ehlers-Danlos syndrome, classical type.Statistical modeling of ultrastructural features of murine dermal collagen under chronic low-dose whole body X-irradiation.Human recombinant alpha1(V) collagen chain. Homotrimeric assembly and subsequent processing.Effect of targeted mutation in collagen V alpha 2 gene on development of cutaneous hyperplasia in tight skin mice.Identification and phenotypic characterization of a second collagen adhesin, Scm, and genome-based identification and analysis of 13 other predicted MSCRAMMs, including four distinct pilus loci, in Enterococcus faecium.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.
P2860
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P2860
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
description
1996 nî lūn-bûn
@nan
1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
@ast
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
@en
type
label
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
@ast
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
@en
prefLabel
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
@ast
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
@en
P2093
P2860
P356
P1476
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
@en
P2093
Greenspan DS
Harrison JB
McCarron S
Nicholls AC
P2860
P304
P356
10.1136/JMG.33.11.940
P407
P577
1996-11-01T00:00:00Z