Associated Papers
Failed cellular surveillance enables pathogenic matrix deposition in a COL2A1-related osteoarthritis.
Yammine KM et al.
The Journal of Biological Chemistry, 2025
Failed Cellular Surveillance Enables Pathogenic Matrix Deposition in a COL2A1-Related Osteoarthritis.
Yammine KM et al.
Biorxiv : the Preprint Server for Biology, 2025
Failed Cellular Surveillance Enables Pathogenic Matrix Deposition in a COL2A1 -Related Osteoarthritis.
Yammine KM et al.
Biorxiv : the Preprint Server for Biology, 2025
Investigation of a family affected by early-onset osteoarthritis - proposal of a clinical pathway and bioinformatics pipeline for the investigation of cases of familial OA.
Deveza LA et al.
Bmc Musculoskeletal Disorders, 2023
Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis.
Yammine KM et al.
Stem Cell Research, 2023
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Ruault V et al.
Arthritis & Rheumatology (hoboken, N.j.), 2020
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Zhang B et al.
Clinical Genetics, 2020
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia.
Xu Y et al.
International Journal of Biological Sciences, 2020
Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.
Dasa V et al.
American Journal of Medical Genetics. Part A, 2019
Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X.
Gawron K
Cell Stress & Chaperones, 2016
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Barat-Houari M et al.
European Journal of Human Genetics : Ejhg, 2016
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Barat-Houari M et al.
Human Mutation, 2016
Genetic Determinism of Primary Early-Onset Osteoarthritis.
Aury-Landas J et al.
Trends in Molecular Medicine, 2016
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.
Silveira KC et al.
American Journal of Medical Genetics. Part A, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Terhal PA et al.
American Journal of Medical Genetics. Part A, 2015
Osteoarthritis at young age, a diagnostic challenge: a case of stickler syndrome.
de Wergifosse I et al.
The Open Rheumatology Journal, 2014
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
Terhal PA et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants.
Jensen DA et al.
Human Mutation, 2011
Nosology and classification of genetic skeletal disorders: 2010 revision.
Warman ML et al.
American Journal of Medical Genetics. Part A, 2011
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.
Mark PR et al.
American Journal of Medical Genetics. Part A, 2011
R992C (p.R1192C) Substitution in collagen II alters the structure of mutant molecules and induces the unfolded protein response.
Chung HJ et al.
Journal of Molecular Biology, 2009
Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis.
Hintze V et al.
Human Mutation, 2008
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral WA et al.
Human Mutation, 2007
Molecular genetics of the COL2A1-related disorders.
Deng H et al.
Mutation Research. Reviews in Mutation Research, 0