Associated Papers
The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia.
Yang J et al.
Human Molecular Genetics, 2025
Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.
Bateman JF et al.
Connective Tissue Research, 2022
Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.
Wu H et al.
Molecular Genetics & Genomic Medicine, 2021
Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.
Forouhan M et al.
Human Molecular Genetics, 2018
Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts.
Ohguchi Y et al.
The Journal of Investigative Dermatology, 2018
Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X.
Gawron K
Cell Stress & Chaperones, 2016
Nonsense-mediated mRNA decay of collagen -emerging complexity in RNA surveillance mechanisms.
Fang Y et al.
Journal of Cell Science, 2013
Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.
Mäkitie O et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2010
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
Ho MS et al.
Human Molecular Genetics, 2007
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