Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Genetic variations in pseudoachondroplasia: a review of case reports.
Petryka L et al.
Laboratory Medicine, 2025
Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia.
Zhou L et al.
Frontiers in Endocrinology, 2023
Structure, evolution and expression of zebrafish cartilage oligomeric matrix protein (COMP, TSP5). CRISPR-Cas mutants show a dominant phenotype in myosepta.
Forte-Gomez HF et al.
Frontiers in Endocrinology, 2022
A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.
Chen J et al.
Genes & Diseases, 2019
Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation.
Gu C et al.
Biomed Research International, 2017
[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
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
[Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia].
Wang JJ et al.
Yi Chuan = Hereditas, 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
Expression of PSACH-associated mutant COMP in tendon fibroblasts leads to increased apoptotic cell death irrespective of the secretory characteristics of mutant COMP.
Weirich C et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2007
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion.
Schmitz M et al.
The Journal of Biological Chemistry, 2006
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.
Kennedy J et al.
Human Mutation, 2005
Mesomelic dwarfism in pseudoachondroplasia.
Song HR et al.
Journal of Pediatric Orthopedics. Part B, 2004
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
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