A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia

Human Mutation

Volumn 33, Issue 1, 2012, Pages 218-231

  Suleman, Farhana ^a   Gualeni, Benedetta ^a   Gregson, Hannah J ^a   Leighton, Matthew P ^a   Pirog, Katarzyna A ^a   Edwards, Sarah ^a   Holden, Paul ^b   Boot Handford, Raymond P ^a   Briggs, Michael D ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b Shriners Hospital for Children   (United States)

Author keywords

Cartilage oligomeric matrix protein; chondrocyte stress; Pseudoachondroplasia

Indexed keywords

ASPARTIC ACID; CARTILAGE OLIGOMERIC MATRIX PROTEIN; CHAPERONE; METHIONINE; THREONINE; VALINE;

ACHONDROPLASIA; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; APOPTOSIS; ARTICLE; BIRTH; BONE DYSPLASIA; CARTILAGE CELL; CELL COUNT; CELL CYCLE REGULATION; CELL PROLIFERATION; CELL STRESS; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; EPIPHYSIS PLATE; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENOME; HISTOPATHOLOGY; IN VIVO STUDY; MALE; MICROARRAY ANALYSIS; MOUSE; MOUSE MUTANT; MULTIPLE EPIPHYSEAL DYSPLASIA; NONHUMAN; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; OXIDATIVE STRESS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; PSEUDOACHONDROPLASIA; RISK FACTOR; SHORT LIMBED DWARFISM; UNFOLDED PROTEIN RESPONSE; WILD TYPE;

ACHONDROPLASIA; ANIMALS; APOPTOSIS; CELL CYCLE CHECKPOINTS; CELL PROLIFERATION; CHONDROCYTES; DISEASE MODELS, ANIMAL; ENDOPLASMIC RETICULUM; EXTRACELLULAR MATRIX PROTEINS; GENE EXPRESSION; GENE EXPRESSION PROFILING; GLYCOPROTEINS; GROWTH PLATE; MICE; MICE, TRANSGENIC; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OXIDATIVE STRESS; PHENOTYPE;

ANIMALIA; MUS;

EID: 84857686755     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21631     Document Type: Article

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