Associated Papers
Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.
Dietmar HF et al.
International Journal of Molecular Sciences, 2025
From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
Dennis EP et al.
International Journal of Molecular Sciences, 2025
Genetic variations in pseudoachondroplasia: a review of case reports.
Petryka L et al.
Laboratory Medicine, 2025
Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP.
Yin L et al.
Annals of Human Genetics, 2023
Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia.
Zhou L et al.
Frontiers in Endocrinology, 2023
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
Liang H et al.
Calcified Tissue International, 2022
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
Jacob P et al.
American Journal of Medical Genetics. Part A, 2022
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
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
Resveratrol Reduces COMPopathy in Mice Through Activation of Autophagy.
Hecht JT et al.
Jbmr Plus, 2021
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.
Kim SJ et al.
Frontiers in Genetics, 2021
Mutant COMP shapes growth and development of skull and facial structures in mice and humans.
Burger A et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic Disorders of the Extracellular Matrix.
Lamandé SR et al.
Anatomical Record (hoboken, N.j. : 2007), 2020
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
A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia.
Chen J et al.
Genes & Diseases, 2019
Cartilage oligomeric matrix protein: COMPopathies and beyond.
Posey KL et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Mutant cartilage oligomeric matrix protein (COMP) compromises bone integrity, joint function and the balance between adipogenesis and osteogenesis.
Coustry F et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Two novel mutations of COMP in Japanese boys with pseudoachondroplasia.
Ichihashi Y et al.
Human Genome Variation, 2018
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.
Huang Z et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
Different Forms of ER Stress in Chondrocytes Result in Short Stature Disorders and Degenerative Cartilage Diseases: New Insights by Cartilage-Specific ERp57 Knockout Mice.
Rellmann Y et al.
Oxidative Medicine and Cellular Longevity, 2018
Novel therapeutic interventions for pseudoachondroplasia.
Posey KL et al.
Bone, 2017
Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia.
Yu WJ et al.
Molecular Medicine Reports, 2016
Genetic Determinism of Primary Early-Onset Osteoarthritis.
Aury-Landas J et al.
Trends in Molecular Medicine, 2016
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Zhang H et al.
Journal of Human Genetics, 2015
New therapeutic targets in rare genetic skeletal diseases.
Briggs MD et al.
Expert Opinion on Orphan Drugs, 2015
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).
Briggs MD et al.
International Journal of Molecular Medicine, 2015
Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.
Kung LH et al.
Plos One, 2015
Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.
Briggs MD et al.
European Journal of Human Genetics : Ejhg, 2014
Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia.
Patterson SE et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014
Pseudoachondroplasia/COMP - translating from the bench to the bedside.
Posey KL et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2014
Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasia.
Posey KL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia.
Piróg KA et al.
Plos One, 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
A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth.
Gualeni B et al.
Disease Models & Mechanisms, 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
Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures.
Bell PA et al.
Biology Open, 2013
A novel COMP mutation in a Chinese patient with pseudoachondroplasia.
Xie X et al.
Gene, 2013
Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.
Bell PA et al.
Arthritis and Rheumatism, 2012
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
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.
Suleman F et al.
Human Mutation, 2012
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
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature.
Elliott AM et al.
Genetics and Molecular Research : Gmr, 2010
Thrombospondins and novel TSR-containing proteins, R-spondins, regulate bone formation and remodeling.
Hankenson KD et al.
Current Osteoporosis Reports, 2010
RNAi reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein.
Posey KL et al.
Plos One, 2010