Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
about
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.Cartilage 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 responseA mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneityCartilage 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.Identification 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 contributionA mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasiaMultiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3Reduced 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 myopathyThe role of structural genes in the pathogenesis of osteoarthritic disordersArticular cartilage and changes in arthritis: noncollagenous proteins and proteoglycans in the extracellular matrix of cartilageWhat can we do about osteoarthritis?The Function and Roles of ADAMTS-7 in Inflammatory DiseasesMechanisms and models of endoplasmic reticulum stress in chondrodysplasiaCrystal structure of the N-terminal NC4 domain of collagen IX, a zinc binding member of the laminin-neurexin-sex hormone binding globulin (LNS) domain familyIdentification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasiaComplete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variantsDisulfide connectivity of recombinant C-terminal region of human thrombospondin 2Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable signPseudoachondroplasia 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 syndromeMutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutationsD469del-COMP retention in chondrocytes stimulates caspase-independent necroptosisA 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 chondrocytesA novel COMP mutation in a pseudoachondroplasia family of Chinese origin.Phylogenomic analysis of vertebrate thrombospondins reveals fish-specific paralogues, ancestral gene relationships and a tetrapod innovation.Type IX collagen deficiency enhances the binding of cartilage-specific antibodies and arthritis severity.Cartilage oligomeric matrix protein deficiency promotes early onset and the chronic development of collagen-induced arthritis.Genetics and osteoarthritis: exposing the iceberg.
P2860
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P2860
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
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
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@ast
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@en
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@en-gb
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@nl
type
label
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@ast
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@en
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@en-gb
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@nl
prefLabel
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@ast
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@en
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@en-gb
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@nl
P2093
P2860
P921
P3181
P356
P1433
P1476
Pseudoachondroplasia and multi ...... oligomeric matrix protein gene
@en
P2093
Hoffman SM
Lachman RS
Mohrenweiser H
P2860
P2888
P304
P3181
P356
10.1038/NG0795-330
P407
P577
1995-07-01T00:00:00Z
P6179
1031606689