Associated Papers
Membralin Selects Foreign Glycoproteins from the Endoplasmic Reticulum to Lysosomes for Degradation.
Zheng YH et al.
Research Square, 2025
ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis.
Yammine KM et al.
Life Science Alliance, 2024
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Zhao S et al.
Nature Communications, 2024
Mutation in the COL2A1 gene is associated with acetabular dysplasia.
Xin M et al.
Frontiers in Genetics, 2024
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.
Kahraman AB et al.
American Journal of Medical Genetics. Part A, 2022
Tyrosine-sulfated dermatopontin shares multiple binding sites and recognition determinants on triple-helical collagens with proteins implicated in cell adhesion and collagen folding, fibrillogenesis, cross-linking, and degradation.
Jensen MM et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2022
Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.
Bateman JF et al.
Connective Tissue Research, 2022
Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.
Chen M et al.
Frontiers in Endocrinology, 2022
A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.
Zhou T et al.
Journal of Clinical Laboratory Analysis, 2021
Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing.
Lilianty J et al.
Stem Cell Research, 2020
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Zhang B et al.
Clinical Genetics, 2020
Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
Zheng WB et al.
Molecular Genetics & Genomic Medicine, 2020
A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.
Xiong Q et al.
Human Genome Variation, 2018
Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
Chen J et al.
Bmc Pediatrics, 2017
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
Smith ED et al.
Human Mutation, 2017
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
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Zhang H et al.
Journal of Human Genetics, 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
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
Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.
Huang X et al.
Plos One, 2015
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
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.
Zhang Z et al.
Biochemical and Biophysical Research Communications, 2011
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
ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
Furuichi T et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 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
[Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda].
Zhu HY et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
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
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
Hoornaert KP et al.
Journal of Medical Genetics, 2006
The phenotypic spectrum of COL2A1 mutations.
Nishimura G et al.
Human Mutation, 2005
[Five de novo forms of polymorphisms first found in Chinese mitochondrial genome].
Qi Y et al.
Zhonghua Yi Xue Za Zhi, 2001
Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.
Kimura M et al.
Biochemical and Biophysical Research Communications, 0
Molecular genetics of the COL2A1-related disorders.
Deng H et al.
Mutation Research. Reviews in Mutation Research, 0