Associated Papers
Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.
Meng L et al.
Calcified Tissue International, 2025
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
Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant.
Ain NU et al.
Journal of Medical Genetics, 2018
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.
Mäkitie O et al.
American Journal of Medical Genetics. Part A, 2005
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
Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer.
Bogin O et al.
Structure (london, England : 1993), 2002
Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
Sawai H et al.
Journal of Human Genetics, 1998
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.
Ikegawa S et al.
Human Mutation, 1997
Site-directed mutagenesis of human type X collagen. Expression of alpha1(X) NC1, NC2, and helical mutations in vitro and in transfected cells.
Chan D et al.
The Journal of Biological Chemistry, 1996
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
Wallis GA et al.
Journal of Medical Genetics, 1996
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
McIntosh I et al.
Human Molecular Genetics, 1994
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