Endoplasmic Reticulum Stress-Unfolding Protein Response-Apoptosis Cascade Causes Chondrodysplasia in a col2a1 p.Gly1170Ser Mutated Mouse Model

Endoplasmic Reticulum Stress, Pancreatic  -Cell Degeneration, and Diabetes

(2013) F. R. Papa   Cold Spring Harbor Perspectives in Medicine

Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants

(2011) Deborah A. Jensen et al.   HUMAN MUTATION

A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to aCol2a1mutation

(2011) Christopher T Esapa et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Diverse effects of type II collagen on osteogenic and adipogenic differentiation of mesenchymal stem cells

(2011) Li-Hsuan Chiu et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Clinical phenotypes associated with type II collagen mutations

(2011) Peter Kannu et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type

(2011) Tatsuya Furuichi et al.   MAMMALIAN GENOME

Differential effect of ECM molecules on re-expression of cartilaginous markers in near quiescent human chondrocytes

(2010) Li-Hsuan Chiu et al.   JOURNAL OF CELLULAR PHYSIOLOGY

R992C (p.R1192C) Substitution in Collagen II Alters the Structure of Mutant Molecules and Induces the Unfolded Protein Response

(2009) Hye Jin Chung et al.   JOURNAL OF MOLECULAR BIOLOGY

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

(2009) John F. Bateman et al.   NATURE REVIEWS GENETICS

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Age at onset–dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation ofCOL2A1

(2008) Peiqiang Su et al.   ARTHRITIS AND RHEUMATISM

Disturbed Synthesis of Type II Collagen Interferes with Rate of Bone Formation and Growth and Increases Bone Resorption in Transgenic Mice

(2008) Jyrki Nieminen et al.   CALCIFIED TISSUE INTERNATIONAL

Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis

(2008) Vera Hintze et al.   HUMAN MUTATION

The Heterozygous Disproportionate Micromelia (Dmm) Mouse: Morphological Changes in Fetal Cartilage Precede Postnatal Dwarfism and Compared With Lethal Homozygotes Can Explain the Mild Phenotype

(2008) Robert E. Seegmiller et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

ER Stress-Mediated Apoptosis in a New Mouse Model of Osteogenesis imperfecta

(2008) Thomas S. Lisse et al.   PLoS Genetics