Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I
about
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type IICOL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome IIVariation 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 IRegulation 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 heterotrimersThe molecular basis of vascular disordersThe molecular genetics of the Ehlers-Danlos syndrome.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.Control of heterotypic fibril formation by collagen V is determined by chain stoichiometry.Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?Toward an understanding of the cause of mitral valve prolapseHeritable collagen disorders: from genotype to phenotype.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.Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyIncidental medical information in whole-exome sequencing.Minor fibrillar collagens, variable regions alternative splicing, intrinsic disorder, and tyrosine sulfationClinical 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).Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.Using transmission electron microscopy and 3View to determine collagen fibril size and three-dimensional organization.Variants within the COMP and THBS2 genes are not associated with Achilles tendinopathy in a case-control study of South African and Australian populations.Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone.Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.The candidate gene XIRP2 at a quantitative gene locus on equine chromosome 18 associated with osteochondrosis in fetlock and hock joints of South German Coldblood horses.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Transient expression of mouse pro-α3(V) collagen gene (Col5a3) in wound healing.
P2860
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P2860
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I
description
1998 nî lūn-bûn
@nan
1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@ast
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@en
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@en-gb
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@nl
type
label
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@ast
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@en
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@en-gb
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@nl
prefLabel
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@ast
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@en
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@en-gb
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@nl
P2093
P921
P356
P1476
Mutations of the alpha2(V) cha ...... ehlers-danlos syndrome type I
@en
P2093
K Michalickova
M C Willing
R J Wenstrup
P304
P356
10.1093/HMG/7.2.249
P407
P577
1998-02-01T00:00:00Z