COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
about
Cartilage oligomeric matrix protein is involved in human limb development and in the pathogenesis of osteoarthritisPseudoachondroplasia 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 contributionDecreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.Influences of the N700S Thrombospondin-1 Polymorphism on Protein Structure and StabilityThe crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin bindingA novel COMP mutation in a pseudoachondroplasia family of Chinese origin.Cartilage oligomeric matrix protein (COMP) forms part of the connective tissue of normal human hair follicles.Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.Passage and reversal effects on gene expression of bovine meniscal fibrochondrocytes.Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.Mutations targeting intermodular interfaces or calcium binding destabilize the thrombospondin-2 signature domain.Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases.An experimental study of COMP (cartilage oligomeric matrix protein) in the rabbit menisci.Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.Cartilage Oligomeric Matrix Protein Level in Rheumatic Diseases: Potential Use as a Marker for Measuring Articular Cartilage Damage and/or the Therapeutic Efficacy of Treatments
P2860
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P2860
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
COMP mutation screening as an ...... multiple epiphyseal dysplasia
@ast
COMP mutation screening as an ...... multiple epiphyseal dysplasia
@en
type
label
COMP mutation screening as an ...... multiple epiphyseal dysplasia
@ast
COMP mutation screening as an ...... multiple epiphyseal dysplasia
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prefLabel
COMP mutation screening as an ...... multiple epiphyseal dysplasia
@ast
COMP mutation screening as an ...... multiple epiphyseal dysplasia
@en
P2093
P2860
P356
P1476
COMP mutation screening as an ...... multiple epiphyseal dysplasia
@en
P2093
Dian Donnai
Gail Jackson
Jacky Taylor
Michael D Briggs
Michael J Wright
Simon Ramsden
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201374
P577
2005-05-01T00:00:00Z