Associated Papers
Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia.
Toral López J et al.
Molecular Syndromology, 2023
Mild metatropic dysplasia: emphasis on the magnetic resonance imaging of articular cartilage thickening.
Hamabe F et al.
Bjr Case 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
Mutations in COMP cause familial carpal tunnel syndrome.
Li C et al.
Nature Communications, 2020
Clinical Interpretation of Sequence Variants.
Zhang J et al.
Current Protocols in Human Genetics, 2020
Genetic Determinism of Primary Early-Onset Osteoarthritis.
Aury-Landas J et al.
Trends in Molecular Medicine, 2016
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
Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.
Piróg KA et al.
Plos One, 2013
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
Kim OH et al.
American Journal of Medical Genetics. Part A, 2011
A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study.
Mu SC et al.
Annals of Human Genetics, 2011
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.
Jung WW et al.
International Journal of Molecular Medicine, 2010
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
Unger S et al.
Best Practice & Research. Clinical Rheumatology, 2008
Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD).
Campos-Barros A et al.
American Journal of Medical Genetics. Part A, 2007
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
Zankl A et al.
European Journal of Human Genetics : Ejhg, 2007
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
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
Mabuchi A et al.
American Journal of Medical Genetics. Part A, 2004
Structure of a thrombospondin C-terminal fragment reveals a novel calcium core in the type 3 repeats.
Kvansakul M et al.
The Embo 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
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
Mabuchi A et al.
Human Genetics, 2003