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).
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COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome IIOrder 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 tendonTransfer of tolerance to collagen type V suppresses T-helper-cell-17 lymphocyte-mediated acute lung transplant rejectionRare 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.Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.P63 gene mutations and human developmental syndromes.The expression patterns of minor fibrillar collagens during development in zebrafish.Heritable collagen disorders: from genotype to phenotype.Collagens and collagen-related diseases.The Ehlers-Danlos syndrome: on beyond collagensFirst mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.Gene profiling of the rat medial collateral ligament during early healing using microarray analysisCollagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.IL-17-dependent cellular immunity to collagen type V predisposes to obliterative bronchiolitis in human lung transplants.Extracellular matrix and the mechanics of large artery development.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 mutationsAltered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome.Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).Vascular extracellular matrix and arterial mechanics.Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.The extracellular matrix of the dermis: flexible structures with dynamic functions.The Ehlers-Danlos syndrome, a disorder with many faces.Type V Collagen in Health, Disease, and Fibrosis.Ehlers-Danlos syndrome, classical type.Polymorphisms in TNC and COL5A1 genes are associated with risk of superficial digital flexor tendinopathy in National Hunt Thoroughbred racehorses.The urokinase plasminogen activator receptor-associated protein/endo180 is coexpressed with its interaction partners urokinase plasminogen activator receptor and matrix metalloprotease-13 during osteogenesis.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Subependymal periventricular heterotopias in a patient with ehlers-danlos syndrome: a new case.Genetic Covariation of Pelvic Organ and Elbow Mobility in Twins and their Sisters
P2860
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P2860
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).
description
2000 nî lūn-bûn
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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Null alleles of the COL5A1 gen ...... los syndrome (types I and II).
@ast
Null alleles of the COL5A1 gen ...... los syndrome (types I and II).
@en
Null alleles of the COL5A1 gen ...... orms of Ehlers-Danlos syndrome
@nl
type
label
Null alleles of the COL5A1 gen ...... los syndrome (types I and II).
@ast
Null alleles of the COL5A1 gen ...... los syndrome (types I and II).
@en
Null alleles of the COL5A1 gen ...... orms of Ehlers-Danlos syndrome
@nl
prefLabel
Null alleles of the COL5A1 gen ...... los syndrome (types I and II).
@ast
Null alleles of the COL5A1 gen ...... los syndrome (types I and II).
@en
Null alleles of the COL5A1 gen ...... orms of Ehlers-Danlos syndrome
@nl
P2093
P2860
P356
P1476
Null alleles of the COL5A1 gen ...... los syndrome (types I and II).
@en
P2093
D S Greenspan
G G Hoffman
M Atkinson
U Schwarze
P2860
P304
P356
10.1086/302933
P407
P577
2000-05-04T00:00:00Z