Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Human Molecular Genetics

Volumn 20, Issue 8, 2011, Pages 1595-1609

  Pyott, Shawna M ^a   Schwarze, Ulrike ^a   Christiansen, Helena E ^a   Pepin, Melanie G ^a   Leistritz, Dru F ^a   Dineen, Richard ^c   Harris, Catharine ^c   Burton, Barbara K ^d   Angle, Brad ^d   Kim, Katherine ^d   Sussman, Michael D ^e   Weis, MaryAnn ^b   Eyre, David R ^b   Russell, David W ^a,b   McCarthy, Kevin J ^f   Steiner, Robert D ^g   Byers, Peter H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

^e Shriners Hospital   (United States)

^f LOUISIANA STATE UNIVERSITY   (United States)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARTILAGE ASSOCIATED PROTEIN; CYCLOPHILIN B; LEUCINE PROLINE ENRICHED PROTEOGLYCAN 1; MESSENGER RNA; PEPTIDYLPROLYL ISOMERASE; PEPTIDYLPROLYL ISOMERASE B; PROCOLLAGEN; PROCOLLAGEN PROLINE 2 OXOGLUTARATE 4 DIOXYGENASE; PROCOLLAGEN TYPE 1; PROLYL 4 HYDROXYLASE 1; PROTEIN DISULFIDE ISOMERASE; PROTEOGLYCAN; SCLEROPROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN CELL; HYDROXYLATION; INFANT; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PERINATAL DEATH; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN MODIFICATION; PROTEIN SECRETION; ROUGH ENDOPLASMIC RETICULUM; THERMOSTABILITY;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; CHILD; COLLAGEN TYPE I; CYCLOPHILINS; EXTRACELLULAR MATRIX PROTEINS; FEMUR; FIBROBLASTS; HUMANS; HYDROXYLATION; INFANT; INFANT, NEWBORN; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; OSTEOGENESIS IMPERFECTA; PEDIGREE; PHENOTYPE; PROCOLLAGEN; PROCOLLAGEN-PROLINE DIOXYGENASE; PROLINE; PROLINE-RICH PROTEIN DOMAINS; PROTEIN DISULFIDE-ISOMERASES; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN STABILITY; PROTEOGLYCANS; RIBS; SEQUENCE DELETION; SKULL;

EID: 79953087965     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr037     Document Type: Article

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