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
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.
Ye Y et al.
Molecular Genetics & Genomic Medicine, 2021
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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts.
Ohguchi Y et al.
The Journal of Investigative Dermatology, 2018
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
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.
Bateman JF et al.
Human Mutation, 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
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
A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.
Pokharel RK et al.
Biochemical and Biophysical Research Communications, 1995
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.
McIntosh I et al.
Human Mutation, 1995