Associated Papers
Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia.
Zhou L et al.
Frontiers in Endocrinology, 2023
Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia.
Tuncel G et al.
Applied Immunohistochemistry & Molecular Morphology : Aimm, 2021
A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.
Guo BB et al.
Biomed Research International, 2021
Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.
El-Lababidi N et al.
Prague Medical Report, 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
[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
Role of TSP-5/COMP in pseudoachondroplasia.
Posey KL et al.
The International Journal of Biochemistry & Cell Biology, 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
A polymorphism in thrombospondin-1 associated with familial premature coronary heart disease causes a local change in conformation of the Ca2+-binding repeats.
Hannah BL et al.
The Journal of Biological Chemistry, 2003
Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways.
Dinser R et al.
The Journal of Clinical Investigation, 2002
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD et al.
Human Mutation, 2002
Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.
Thur J et al.
The Journal of Biological Chemistry, 2001
Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture.
Délot E et al.
The Journal of Biological Chemistry, 1998