Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Failed cellular surveillance enables pathogenic matrix deposition in a COL2A1-related osteoarthritis.
Yammine KM et al.
The Journal of Biological Chemistry, 2025
Pathogenicity effects of a COL2A1 missense mutation (c.1594G>C) in cartilage development.
Zhou J et al.
Translational Pediatrics, 2025
Pathobiology of the crystalline lens in Stickler syndrome.
Snead MP et al.
Progress in Retinal and Eye Research, 2024
ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis.
Yammine KM et al.
Life Science Alliance, 2024
Bone Remodeling and Bone Structural Genes in Legg-Calvé-Perthes Disease: The OPG rs2073618 and IL-6 rs1800795 Are Associated with High Risk in Mexican Patients.
Cruz-Ortíz BL et al.
Dna and Cell Biology, 2024
Legg-Calve-Perthes' disease: an opportunity to prevent blindness?
Wang A et al.
Archives of Disease in Childhood, 2023
Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.
Jacobson A et al.
Genes, 2023
Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.
Akahira-Azuma M et al.
Human Genome Variation, 2022
Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.
Bateman JF et al.
Connective Tissue Research, 2022
Association of MTHFR rs1801133 and homocysteine with Legg-Calvé-Perthes disease in Mexican patients.
Buendía-Pazarán JG et al.
Orphanet Journal of Rare Diseases, 2022
A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.
Zhang Z et al.
Bmc Medical Genomics, 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
Identification of an IGF1 mutation (c.15+3G>A) in familial osteonecrosis of the femoral head: A case report.
Xu Q et al.
Medicine, 2021
CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A.
Kung LHW et al.
Stem Cell Research, 2020
Gene testing for osteonecrosis of the femoral head in systemic lupus erythematosus using targeted next-generation sequencing: A pilot study.
Sun HS et al.
World Journal of Clinical Cases, 2020
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Zhang B et al.
Clinical Genetics, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.
Dasa V et al.
American Journal of Medical Genetics. Part A, 2019
Osteonecrosis of the femoral head: genetic basis.
Wang T et al.
International Orthopaedics, 2019
COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report.
Liu F et al.
Molecular Medicine Reports, 2018
Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head.
Sakamoto Y et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2017
A Novel Regulatory Mechanism of Type II Collagen Expression via a SOX9-dependent Enhancer in Intron 6.
Yasuda H et al.
The Journal of Biological Chemistry, 2017
Association of Genes Variants in RANKL/RANK/OPG Signaling Pathway with the Development of Osteonecrosis of the Femoral Head in Chinese Population.
Song Y et al.
International Journal of Medical Sciences, 2017
Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X.
Gawron K
Cell Stress & Chaperones, 2016
Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.
Li H et al.
European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society, 2015
Stickler syndrome associated with epilepsy: report of three cases.
Savasta S et al.
European Journal of Pediatrics, 2015
A mutation of the Col2a1 gene (G1170S) alters the transgenic murine phenotype and cartilage matrix homeostasis.
Yang RC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2014
A genetic pedigree analysis to identify gene mutations involved in femoral head necrosis.
Wang L et al.
Molecular Medicine Reports, 2014
Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement.
Rukavina I et al.
Seminars in Arthritis and Rheumatism, 2014
Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model.
Liang G et al.
Plos One, 2014
A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.
Li N et al.
Plos One, 2014
[Hip dysplasia and spinal osteochondritis (Scheuermann's disease) in a girl with type II manifesting collagenopathy].
Al Kaissi A et al.
Der Orthopade, 2013
Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review.
Husar-Memmer E et al.
Seminars in Arthritis and Rheumatism, 2013
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
Clinical phenotypes associated with type II collagen mutations.
Kannu P et al.
Journal of Paediatrics and Child Health, 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
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.
Kannu P et al.
Clinical Orthopaedics and Related Research, 2011
Relationships between COL2A1 gene polymorphisms and knee osteoarthritis in Han Chinese women.
Xu P et al.
Molecular Biology Reports, 2011
The epidemiology and demographics of legg-calvé-perthes' disease.
Loder RT et al.
Isrn Orthopedics, 2011
A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy.
Su P et al.
International Orthopaedics, 2010
Premature arthritis is a distinct type II collagen phenotype.
Kannu P et al.
Arthritis and Rheumatism, 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
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.
Cui YX et al.
Genetic Testing, 2008