Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.
about
Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helixMechanisms and models of endoplasmic reticulum stress in chondrodysplasiaGenetics and osteoarthritis: exposing the iceberg.The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagenA missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisisArticular cartilage and osteoarthrosis. The role of molecular markers to monitor breakdown, repair and disease.Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants.Molecular genetics of rhegmatogenous retinal detachment.Markers of cartilage metabolism in arthrosis. A review.The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 geneR992C (p.R1192C) Substitution in collagen II alters the structure of mutant molecules and induces the unfolded protein response.Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse modelPremature arthritis is a distinct type II collagen phenotype.Etiology of osteoarthritis: genetics and synovial joint development.Osteoarthritis and rheumatoid arthritis in elderly patients. Differentiation and treatment.The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.Changes in serum cartilage marker levels indicate altered cartilage metabolism in families with the osteoarthritis-related type II collagen gene COL2A1 mutation.Stable transfection of human fetal chondrocytes with a type II procollagen minigene: expression of the mutant protein and alterations in the structure of the extracellular matrix in vitro.Yet more evidence that osteoarthritis is not a cartilage disease.Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.
P2860
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P2860
Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Cartilage expression of a type ...... with a mild chondrodysplasia.
@ast
Cartilage expression of a type ...... with a mild chondrodysplasia.
@en
Cartilage expression of a type ...... with a mild chondrodysplasia.
@nl
type
label
Cartilage expression of a type ...... with a mild chondrodysplasia.
@ast
Cartilage expression of a type ...... with a mild chondrodysplasia.
@en
Cartilage expression of a type ...... with a mild chondrodysplasia.
@nl
prefLabel
Cartilage expression of a type ...... with a mild chondrodysplasia.
@ast
Cartilage expression of a type ...... with a mild chondrodysplasia.
@en
Cartilage expression of a type ...... with a mild chondrodysplasia.
@nl
P2093
P2860
P356
P1476
Cartilage expression of a type ...... with a mild chondrodysplasia.
@en
P2093
P2860
P304
P356
10.1172/JCI114994
P407
P577
1991-01-01T00:00:00Z