Associated Papers
Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.
Meng L et al.
Calcified Tissue International, 2025
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
33764685 (PubMed )
Supplement: MGG3-9-e1668-s001.pdf
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
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
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
Bateman JF et al.
Human Mutation, 2005
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.
Wilson R et al.
The Journal of Biological Chemistry, 2005
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.
Bateman JF et al.
Human Molecular Genetics, 2003
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