Associated Papers
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
A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report.
Zhang X et al.
Medicine, 2019
Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant.
Ain NU et al.
Journal of Medical Genetics, 2018
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
Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen.
Nielsen VH et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2000
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type.
Savarirayan R et al.
Pediatric Radiology, 2000
A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
Matsui Y et al.
Journal of Human Genetics, 2000
Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.
Ikegawa S et al.
American Journal of Human Genetics, 1998
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
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
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