Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia
about
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case reportCartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changesCartilage oligomeric matrix protein protects cells against death by elevating members of the IAP family of survival proteinsCartilage oligomeric matrix protein is involved in human limb development and in the pathogenesis of osteoarthritisCartilage oligomeric matrix protein/thrombospondin 5 supports chondrocyte attachment through interaction with integrinsInteraction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecanIsolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5-specific cDNA libraryA thrombospondin-dependent pathway for a protective ER stress responseCartilage oligomeric matrix protein-deficient mice have normal skeletal development.Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrumCOL9A3: A third locus for multiple epiphyseal dysplasia.Pseudoachondroplasia 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 contributionAttenuation of osteoarthritis progression by reduction of discoidin domain receptor 2 in miceA mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasiaReduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMPA mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathyAdvances in understanding cartilage remodelingMechanisms and models of endoplasmic reticulum stress in chondrodysplasiaStorage function of cartilage oligomeric matrix protein: the crystal structure of the coiled-coil domain in complex with vitamin D(3).Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasiaDisulfide connectivity of recombinant C-terminal region of human thrombospondin 2Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlationsPseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndromeSkeletal abnormalities in mice lacking extracellular matrix proteins, thrombospondin-1, thrombospondin-3, thrombospondin-5, and type IX collagenD469del-COMP retention in chondrocytes stimulates caspase-independent necroptosisCartilage oligomeric matrix protein associates with granulin-epithelin precursor (GEP) and potentiates GEP-stimulated chondrocyte proliferationA far upstream, cell type-specific enhancer of the mouse thrombospondin 3 gene is located within intron 6 of the adjacent metaxin geneDerlin-2-deficient mice reveal an essential role for protein dislocation in chondrocytesAntioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasiaA novel COMP mutation in a pseudoachondroplasia family of Chinese origin.Cartilage oligomeric matrix protein deficiency promotes early onset and the chronic development of collagen-induced arthritis.Genetics and osteoarthritis: exposing the iceberg.RNAi reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein.Genomic regions associated with kyphosis in swineChondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasiaInteraction between cartilage oligomeric matrix protein and extracellular matrix protein 1 mediates endochondral bone growth.Granulin epithelin precursor: a bone morphogenic protein 2-inducible growth factor that activates Erk1/2 signaling and JunB transcription factor in chondrogenesis.Pseudoachondroplastic dysplasia: an Iowa review from human to mousePositional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism.A polymorphism in thrombospondin-1 associated with familial premature coronary heart disease causes a local change in conformation of the Ca2+-binding repeats.
P2860
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P2860
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia
description
1995 nî lūn-bûn
@nan
1995 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutations in exon 17B of carti ...... MP) cause pseudoachondroplasia
@ast
Mutations in exon 17B of carti ...... MP) cause pseudoachondroplasia
@en
Mutations in exon 17B of carti ...... MP) cause pseudoachondroplasia
@nl
type
label
Mutations in exon 17B of carti ...... MP) cause pseudoachondroplasia
@ast
Mutations in exon 17B of carti ...... MP) cause pseudoachondroplasia
@en
Mutations in exon 17B of carti ...... MP) cause pseudoachondroplasia
@nl
prefLabel
Mutations in exon 17B of carti ...... MP) cause pseudoachondroplasia
@ast
Mutations in exon 17B of carti ...... MP) cause pseudoachondroplasia
@en
Mutations in exon 17B of carti ...... MP) cause pseudoachondroplasia
@nl
P2093
P3181
P356
P1433
P1476
Mutations in exon 17B of carti ...... MP) cause pseudoachondroplasia
@en
P2093
C A Francomano
C K Prange
G G Lennon
L D Nelson
W R Harrison
P2888
P3181
P356
10.1038/NG0795-325
P407
P577
1995-07-01T00:00:00Z