A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia
about
Complexes between the nonsense-mediated mRNA decay pathway factor human upf1 (up-frameshift protein 1) and essential nonsense-mediated mRNA decay factors in HeLa cellsCompetency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasiaMechanisms and models of endoplasmic reticulum stress in chondrodysplasiaEndoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XA dominant interference collagen X mutation disrupts hypertrophic chondrocyte pericellular matrix and glycosaminoglycan and proteoglycan distribution in transgenic miceSurviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and functionPlectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplexCOL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.Essential role for the alpha 1 chain of type VIII collagen in zebrafish notochord formation.Chicken collagen X regulatory sequences restrict transgene expression to hypertrophic cartilage in mice.A conserved role for cytoplasmic poly(A)-binding protein 1 (PABPC1) in nonsense-mediated mRNA decayLinking hematopoiesis to endochondral skeletogenesis through analysis of mice transgenic for collagen X.The role of nucleotide composition in premature termination codon recognition.Growth plate compressions and altered hematopoiesis in collagen X null mice.Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones.Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response.Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.Degradation of the cartilage collagen matrix associated with changes in chondrocytes in osteoarthrosis. Assessment by loss of background fluorescence and immunodetection of matrix components.Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains
P2860
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P2860
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on April 1998
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A nonsense mutation in the car ...... d metaphyseal chondrodysplasia
@en
A nonsense mutation in the car ...... metaphyseal chondrodysplasia.
@nl
type
label
A nonsense mutation in the car ...... d metaphyseal chondrodysplasia
@en
A nonsense mutation in the car ...... metaphyseal chondrodysplasia.
@nl
prefLabel
A nonsense mutation in the car ...... d metaphyseal chondrodysplasia
@en
A nonsense mutation in the car ...... metaphyseal chondrodysplasia.
@nl
P2093
P2860
P356
P1476
A nonsense mutation in the car ...... d metaphyseal chondrodysplasia
@en
P2093
P2860
P304
P356
10.1172/JCI1976
P407
P577
1998-04-01T00:00:00Z