Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia
about
Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changesA mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneityIdentification of disease-specific genes in chronic pancreatitis using DNA array technologyPseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionMechanisms and models of endoplasmic reticulum stress in chondrodysplasiaDisulfide connectivity of recombinant C-terminal region of human thrombospondin 2Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlationsPseudoachondroplastic dysplasia: an Iowa review from human to mouseA polymorphism in thrombospondin-1 associated with familial premature coronary heart disease causes a local change in conformation of the Ca2+-binding repeats.Cartilage oligomeric matrix protein in idiopathic pulmonary fibrosis.A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasiaA novel deleterious mutation in the COMP gene that causes pseudoachondroplasiaDissection of Thrombospondin-4 Domains Involved in Intracellular Adaptive Endoplasmic Reticulum Stress-Responsive Signaling.Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotypeChop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia.Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis.Variants within the COMP and THBS2 genes are not associated with Achilles tendinopathy in a case-control study of South African and Australian populations.Defective Flux of Thrombospondin-4 through the Secretory Pathway Impairs Cardiomyocyte Membrane Stability and Causes Cardiomyopathy
P2860
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P2860
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին 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
Novel and recurrent COMP (cart ...... multiple epiphyseal dysplasia
@ast
Novel and recurrent COMP (cart ...... multiple epiphyseal dysplasia
@en
Novel and recurrent COMP (cart ...... multiple epiphyseal dysplasia
@nl
type
label
Novel and recurrent COMP (cart ...... multiple epiphyseal dysplasia
@ast
Novel and recurrent COMP (cart ...... multiple epiphyseal dysplasia
@en
Novel and recurrent COMP (cart ...... multiple epiphyseal dysplasia
@nl
prefLabel
Novel and recurrent COMP (cart ...... multiple epiphyseal dysplasia
@ast
Novel and recurrent COMP (cart ...... multiple epiphyseal dysplasia
@en
Novel and recurrent COMP (cart ...... multiple epiphyseal dysplasia
@nl
P2093
P3181
P356
P1433
P1476
Novel and recurrent COMP (cart ...... multiple epiphyseal dysplasia
@en
P2093
G Nishimura
M Kimizuka
Y Fukushima
Y Nakamura
P2888
P3181
P356
10.1007/S004390050883
P407
P577
1998-12-01T00:00:00Z
P6179
1017474679