Associated Papers
Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.
Akalın A et al.
American Journal of Medical Genetics. Part A, 2025
Genetic variations in pseudoachondroplasia: a review of case reports.
Petryka L et al.
Laboratory Medicine, 2025
A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.
Guo BB et al.
Biomed Research International, 2021
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
Novel therapeutic interventions for pseudoachondroplasia.
Posey KL et al.
Bone, 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
A novel COMP mutation in a Chinese patient with pseudoachondroplasia.
Xie X et al.
Gene, 2013
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
Ribozyme-mediated reduction of wild-type and mutant cartilage oligomeric matrix protein (COMP) mRNA and protein.
Alcorn JL et al.
Rna (new York, N.y.), 2009
[Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia].
Wang JJ et al.
Yi Chuan = Hereditas, 2008
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
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.
Merritt TM et al.
The American Journal of Pathology, 2007
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia.
Hecht JT et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, 2006
COMP mutations, chondrocyte function and cartilage matrix.
Hecht JT et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2005
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate.
Hecht JT et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2004
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD et al.
Human Mutation, 2002
Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture.
Délot E et al.
The Journal of Biological Chemistry, 1998