Associated Papers
Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.
Meng L et al.
Calcified Tissue International, 2025
A Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid.
Tan WH et al.
Iscience, 2024
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
Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.
Pretemer Y et al.
Stem Cell Reports, 2021
Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.
Dennis EP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 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
Paradoxical roles of ATF6α and ATF6β in modulating disease severity caused by mutations in collagen X.
Forouhan M et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Identification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data.
Wang B et al.
International Journal of Molecular Medicine, 2017
Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X.
Gawron K
Cell Stress & Chaperones, 2016
New therapeutic targets in rare genetic skeletal diseases.
Briggs MD et al.
Expert Opinion on Orphan Drugs, 2015
XBP1-Independent UPR Pathways Suppress C/EBP-β Mediated Chondrocyte Differentiation in ER-Stress Related Skeletal Disease.
Cameron TL et al.
Plos Genetics, 2015
Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia.
Patterson SE et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014
Hypertrophic chondrocytes have a limited capacity to cope with increases in endoplasmic reticulum stress without triggering the unfolded protein response.
Kung LH et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, 2012
An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia.
Nundlall S et al.
Cell Stress & Chaperones, 2010
The unfolded protein response and its relevance to connective tissue diseases.
Boot-Handford RP et al.
Cell and Tissue Research, 2010
Targeted induction of endoplasmic reticulum stress induces cartilage pathology.
Rajpar MH et al.
Plos Genetics, 2009
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
Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones.
McLaughlin SH et al.
The Journal of Biological Chemistry, 1999
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