Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly
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A 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 IIThe membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core proteinA point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British familiesClassical Ehlers-Danlos syndrome caused by a mutation in type I collagen.COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDSPathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and IIMice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesisEx vivo multiscale quantitation of skin biomechanics in wild-type and genetically-modified mice using multiphoton microscopyDevelopmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrilsCREB-AP1 protein complexes regulate transcription of the collagen XXIV gene (Col24a1) in osteoblastsEsophageal muscle physiology and morphogenesis require assembly of a collagen XIX-rich basement membrane zoneType III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular developmentDevelopment of a functional skin matrix requires deposition of collagen V heterotrimersLoss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in miceThe extracellular matrix in development and morphogenesis: a dynamic view.Expression of type I and type V collagen mRNAs in the elasmoid scales of a teleost fish as revealed by in situ hybridization.The molecular basis of vascular disordersAn exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.Ehlers-Danlos syndrome has varied molecular mechanisms.A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression.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?Control of heterotypic fibril formation by collagen V is determined by chain stoichiometry.Heritable collagen disorders: from genotype to phenotype.Collagens and collagen-related diseases.The Ehlers-Danlos syndrome: on beyond collagensThe transcription factor CCAAT-binding factor CBF/NF-Y and two repressors regulate the core promoter of the human pro-alpha3(V) collagen gene (COL5A3).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 haploinsufficiencyBasic fibroblast growth factor decreases type V/XI collagen expression in cultured bovine aortic smooth muscle cells.Identification of Loci Modulating the Cardiovascular and Skeletal Phenotypes of Marfan Syndrome in MiceAnalysis of a gene co-expression network establishes robust association between Col5a2 and ischemic heart disease.Gene profiling of the rat medial collateral ligament during early healing using microarray analysisHomozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related PhenotypeReduction of type V collagen using a dominant-negative strategy alters the regulation of fibrillogenesis and results in the loss of corneal-specific fibril morphology.Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility.New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse.Minor fibrillar collagens, variable regions alternative splicing, intrinsic disorder, and tyrosine sulfation
P2860
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P2860
Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly
description
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 1995
@ast
im Januar 1995 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1995/01/01)
@sk
vědecký článek publikovaný v roce 1995
@cs
wetenschappelijk artikel (gepubliceerd op 1995/01/01)
@nl
наукова стаття, опублікована в січні 1995
@uk
name
Targeted mutation in the col5a ...... ollagen during matrix assembly
@ast
Targeted mutation in the col5a ...... ollagen during matrix assembly
@en
Targeted mutation in the col5a ...... ollagen during matrix assembly
@nl
type
label
Targeted mutation in the col5a ...... ollagen during matrix assembly
@ast
Targeted mutation in the col5a ...... ollagen during matrix assembly
@en
Targeted mutation in the col5a ...... ollagen during matrix assembly
@nl
prefLabel
Targeted mutation in the col5a ...... ollagen during matrix assembly
@ast
Targeted mutation in the col5a ...... ollagen during matrix assembly
@en
Targeted mutation in the col5a ...... ollagen during matrix assembly
@nl
P2093
P2860
P356
P1433
P1476
Targeted mutation in the col5a ...... ollagen during matrix assembly
@en
P2093
D. R. Keene
F. Ramirez
K. Andrikopoulos
R. Jaenisch
P2860
P2888
P356
10.1038/NG0195-31
P407
P577
1995-01-01T00:00:00Z