Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia
about
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneityIdentification of disease-specific genes in chronic pancreatitis using DNA array technologyThe role of structural genes in the pathogenesis of osteoarthritic disordersInfluences of the N700S Thrombospondin-1 Polymorphism on Protein Structure and StabilityDisulfide connectivity of recombinant C-terminal region of human thrombospondin 2Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlationsAntioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasiaRNAi reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein.Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasiaA polymorphism in thrombospondin-1 associated with familial premature coronary heart disease causes a local change in conformation of the Ca2+-binding repeats.Pseudoachondroplasia/COMP - translating from the bench to the bedside.Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.Novel therapeutic interventions for pseudoachondroplasia.Dissection of Thrombospondin-4 Domains Involved in Intracellular Adaptive Endoplasmic Reticulum Stress-Responsive Signaling.Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP).Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.Defective Flux of Thrombospondin-4 through the Secretory Pathway Impairs Cardiomyocyte Membrane Stability and Causes Cardiomyopathy
P2860
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P2860
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Identification of nine novel m ...... multiple epiphyseal dysplasia
@ast
Identification of nine novel m ...... multiple epiphyseal dysplasia
@en
Identification of nine novel m ...... multiple epiphyseal dysplasia
@nl
type
label
Identification of nine novel m ...... multiple epiphyseal dysplasia
@ast
Identification of nine novel m ...... multiple epiphyseal dysplasia
@en
Identification of nine novel m ...... multiple epiphyseal dysplasia
@nl
prefLabel
Identification of nine novel m ...... multiple epiphyseal dysplasia
@ast
Identification of nine novel m ...... multiple epiphyseal dysplasia
@en
Identification of nine novel m ...... multiple epiphyseal dysplasia
@nl
P2093
P2860
P1476
Identification of nine novel m ...... multiple epiphyseal dysplasia
@en
P2093
P2860
P304
P356
10.1002/(SICI)1096-8628(19990827)85:5<486::AID-AJMG10>3.0.CO;2-O
P407
P577
1999-08-27T00:00:00Z