Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.
Briggs MD et al.
European Journal of Human Genetics : Ejhg, 2014
[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
A novel COMP mutation in a Chinese patient with pseudoachondroplasia.
Xie X et al.
Gene, 2013
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson GC et al.
Human Mutation, 2012
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
MED and PSACH COMP mutations affect chondrogenesis in chicken limb bud micromass cultures.
Roman-Blas J et al.
Journal of Cellular Physiology, 2010
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
COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.
Chen TL et al.
Journal of Cellular Biochemistry, 2008
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
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
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