Skeletal diseases caused by mutations that affect collagen structure and function

International Journal of Biochemistry and Cell Biology

Volumn 45, Issue 8, 2013, Pages 1556-1567

  Arnold, William V ^a   Fertala, Andrzej ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Bone; Cartilage; Collagen; ER stress; Heritable diseases

Indexed keywords

CHAPERONE; COLLAGEN; COLLAGEN 11; COLLAGEN 27; COLLAGEN 9; COLLAGEN TYPE 1; COLLAGEN TYPE 10; COLLAGEN TYPE 2; COLLAGEN TYPE 3; COLLAGEN TYPE 6; DISCOIDIN; DISINTEGRIN; METALLOPROTEINASE; ORPHAN DRUG; PROCOLLAGEN; PROCOLLAGEN N PROTEINASE; THROMBOSPONDIN; UNCLASSIFIED DRUG;

BIOSYNTHESIS; BONE DEVELOPMENT; BONE DISEASE; BONE DYSPLASIA; BONE GROWTH; CELL FUNCTION; CELL THERAPY; COLLAGEN SYNTHESIS; CONNECTIVE TISSUE; ELECTRON MICROSCOPY; ENCHONDRAL OSSIFICATION; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; GENE MUTATION; GENE THERAPY; GENOTYPE PHENOTYPE CORRELATION; GROWTH PLATE; HEREDITARY CONNECTIVE TISSUE DISEASE; HUMAN; NONHUMAN; PATHOGENESIS; PHYSICAL CHEMISTRY; PROTEIN CONFORMATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROCESSING; PROTEIN STRUCTURE; RARE DISEASE; REVIEW; SKELETON MALFORMATION; UNFOLDED PROTEIN RESPONSE;

EID: 84884893622     PISSN: 13572725     EISSN: 18785875     Source Type: Journal    
DOI: 10.1016/j.biocel.2013.05.017     Document Type: Review

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