Associated Papers
FicD Sensitizes Cellular Response to Glucose Fluctuations in Mouse Embryonic Fibroblasts.
Gulen B et al.
Biorxiv : the Preprint Server for Biology, 2024
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
Pseudoachondroplasia/COMP - translating from the bench to the bedside.
Posey KL et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2014
Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.
Hartley CL et al.
Human Molecular Genetics, 2013
[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
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.
Cao LH et al.
Genetics and Molecular Research : Gmr, 2011
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.
Jung WW et al.
International Journal of Molecular Medicine, 2010
MED and PSACH COMP mutations affect chondrogenesis in chicken limb bud micromass cultures.
Roman-Blas J et al.
Journal of Cellular Physiology, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The E693Delta mutation in amyloid precursor protein increases intracellular accumulation of amyloid beta oligomers and causes endoplasmic reticulum stress-induced apoptosis in cultured cells.
Nishitsuji K et al.
The American Journal of Pathology, 2009
[Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia].
Wang JJ et al.
Yi Chuan = Hereditas, 2008
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype.
Merritt TM et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2006
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
Role of TSP-5/COMP in pseudoachondroplasia.
Posey KL et al.
The International Journal of Biochemistry & Cell Biology, 2004
Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis.
Hashimoto Y et al.
The American Journal of Pathology, 2003
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
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.
Délot E et al.
Human Molecular Genetics, 1999
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Loughlin J et al.
Human Mutation, 1998
Recent advances in the genetics of disorders of calcium homeostasis.
Root AW
Advances in Pediatrics, 1996
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.
Hecht JT et al.
Nature Genetics, 1995