Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia.
Zhou L et al.
Frontiers in Endocrinology, 2023
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
Liang H et al.
Calcified Tissue International, 2022
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
Jacob P et al.
American Journal of Medical Genetics. Part A, 2022
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
Mutations in COMP cause familial carpal tunnel syndrome.
Li C et al.
Nature Communications, 2020
Exome sequencing revealed a p.G299R mutation in the COMP gene in an Iranian family suffering from pseudoachondroplasia.
Ansari H et al.
The Journal of Gene Medicine, 2019
A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.
Chen J et al.
Genes & Diseases, 2019
Cartilage oligomeric matrix protein: COMPopathies and beyond.
Posey KL et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
New therapeutic targets in rare genetic skeletal diseases.
Briggs MD et al.
Expert Opinion on Orphan Drugs, 2015
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).
Briggs MD et al.
International Journal of Molecular Medicine, 2015
Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.
Kung LH et al.
Plos One, 2015
Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.
Briggs MD et al.
European Journal of Human Genetics : Ejhg, 2014
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
Pseudoachondroplasia/COMP - translating from the bench to the bedside.
Posey KL et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2014
Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia.
Piróg KA et al.
Plos One, 2014
Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.
Hartley CL et al.
Human Molecular Genetics, 2013
A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth.
Gualeni B et al.
Disease Models & Mechanisms, 2013
[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].
Lu CT et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2013
Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures.
Bell PA et al.
Biology Open, 2013
A novel COMP mutation in a Chinese patient with pseudoachondroplasia.
Xie X et al.
Gene, 2013
Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.
Piróg KA et al.
Plos One, 2013
Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.
Bell PA et al.
Arthritis and Rheumatism, 2012
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.
Suleman F et al.
Human Mutation, 2012
A secreted variant of cartilage oligomeric matrix protein carrying a chondrodysplasia-causing mutation (p.H587R) disrupts collagen fibrillogenesis.
Hansen U et al.
Arthritis and Rheumatism, 2011
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
Jackson GC et al.
American Journal of Medical Genetics. Part A, 2010
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia.
Piróg KA et al.
Human Molecular Genetics, 2010
The unfolded protein response and its relevance to connective tissue diseases.
Boot-Handford RP et al.
Cell and Tissue Research, 2010
An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype.
Posey KL et al.
The American Journal of Pathology, 2009
The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding.
Tan K et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009
Mutations targeting intermodular interfaces or calcium binding destabilize the thrombospondin-2 signature domain.
Carlson CB et al.
The Journal of Biological Chemistry, 2008
Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations.
Posey KL et al.
Cellular and Molecular Life Sciences : Cmls, 2008
COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.
Chen TL et al.
Journal of Cellular Biochemistry, 2008
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP.
Piróg-Garcia KA et al.
Human Molecular Genetics, 2007
Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.
Leighton MP et al.
Human Molecular Genetics, 2007
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP).
Spitznagel L et al.
The Biochemical Journal, 2004
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
Jakkula E et al.
Journal of Medical Genetics, 2003
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
Song HR et al.
Journal of Human Genetics, 2003
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD et al.
Human Mutation, 2002
Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.
Holden P et al.
The Journal of Biological Chemistry, 2001