Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review.
Moreira LA et al.
Modern Rheumatology, 2024
Ophthalmic manifestations of Czech dysplasia.
Soh Z et al.
American Journal of Medical Genetics. Part A, 2024
Mutation in the COL2A1 gene is associated with acetabular dysplasia.
Xin M et al.
Frontiers in Genetics, 2024
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.
Jacobson A et al.
Genes, 2023
Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree.
Zhao M et al.
Frontiers in Medicine, 2023
Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.
Bateman JF et al.
Connective Tissue Research, 2022
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Markova T et al.
Genes, 2022
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
From Structure to Phenotype: Impact of Collagen Alterations on Human Health.
Arseni L et al.
International Journal of Molecular Sciences, 2018
New Genetic Diagnoses of Short Stature Provide Insights into Local Regulation of Childhood Growth .
Andrade AC et al.
Hormone Research in Paediatrics, 2017
Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X.
Gawron K
Cell Stress & Chaperones, 2016
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
Hammarsjö A et al.
American Journal of Medical Genetics. Part A, 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
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
Jurgens J et al.
Human Mutation, 2015
Mutation in the type II collagen gene (COL2A1) as a cause of early osteoarthritis and juvenile idiopathic arthritis-A pseudorheumatoid arthritis variant.
Hildebrand B
Seminars in Arthritis and Rheumatism, 2015
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
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
COL2A1 mutation as a cause of premature osteoarthritis in a 13-year-old child.
Lankisch P et al.
Joint Bone Spine, 2014
Early childhood presentation of Czech dysplasia.
Burrage LC et al.
Clinical Dysmorphology, 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
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
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.
Kannu P et al.
Clinical Orthopaedics and Related Research, 2011
Nosology and classification of genetic skeletal disorders: 2010 revision.
Warman ML et al.
American Journal of Medical Genetics. Part A, 2011
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.
Bedeschi MF et al.
Orphanet Journal of Rare Diseases, 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
Czech dysplasia occurring in a Japanese family.
Matsui Y et al.
American Journal of Medical Genetics. Part A, 2009
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
Czech dysplasia: report of a large family and further delineation of the phenotype.
Tzschach A et al.
American Journal of Medical Genetics. Part A, 2008
Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis.
Hintze V et al.
Human Mutation, 2008
Czech dysplasia metatarsal type: another type II collagen disorder.
Hoornaert KP et al.
European Journal of Human Genetics : Ejhg, 2007
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