A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs Osteoblast production of pigment epithelium-derived factor

Journal of Bone and Mineral Research

Volumn 29, Issue 6, 2014, Pages 1402-1411

  Farber, Charles R ^a,b   Reich, Adi ^c   Barnes, Aileen M ^c   Becerra, Patricia ^d   Rauch, Frank ^e,f   Cabral, Wayne A ^c   Bae, Alison ^c   Quinlan, Aaron ^a,b   Glorieux, Francis H ^e,f   Clemens, Thomas L ^g,h   Marini, Joan C ^c  

^a UNIVERSITY OF VIRGINIA   (United States)

^b UNIVERSITY OF VIRGINIA   (United States)

^c EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^d NATIONAL EYE INSTITUTE   (United States)

^e SHRINERS HOSPITAL FOR CHILDREN   (Canada)

^f MCGILL UNIVERSITY   (Canada)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h BALTIMORE VA MEDICAL CENTER   (United States)

Author keywords

BRIL; IFITM5; OI; OSTEOGENESIS IMPERFECTA; PEDF; SERPINF1

Indexed keywords

ALENDRONIC ACID; ALKALINE PHOSPHATASE; BONE SIALOPROTEIN; COLLAGEN TYPE 1; MEMBRANE PROTEIN; OSTEOCALCIN; OSTEOPONTIN; PIGMENT EPITHELIUM DERIVED FACTOR; PROTEIN; PROTEIN BRIL; PROTEIN IFITM5; PROTEIN SERPINF1; TRANSCRIPTION FACTOR PAX5; UNCLASSIFIED DRUG; COMPLEMENTARY DNA; EYE PROTEIN; IFITM5 PROTEIN, HUMAN; MESSENGER RNA; NERVE GROWTH FACTOR; PIGMENT EPITHELIUM-DERIVED FACTOR; SERINE PROTEINASE INHIBITOR;

ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; BIOINFORMATICS; BONE MINERALIZATION; BONE RADIOGRAPHY; CASE REPORT; CELL CULTURE; CELL DIFFERENTIATION; CONTROLLED STUDY; DISEASE SEVERITY; EXOME; FEMALE; FEMUR FRACTURE; FIBROBLAST; FUNNEL CHEST; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HEAD CIRCUMFERENCE; HEART FAILURE; HUMAN; HUMAN CELL; LORDOSIS; MACROCEPHALY; MICROSCOPY; MORPHOMETRICS; OSTEOBLAST; OSTEOGENESIS IMPERFECTA; PROTEIN SECRETION; RIB FRACTURE; SCOLIOSIS; SHORT STATURE; SIBLING; SPIRAL COMPUTER ASSISTED TOMOGRAPHY; TOOTH MALFORMATION; TRICUSPID VALVE REGURGITATION; WESTERN BLOTTING; AMINO ACID SEQUENCE; BIOSYNTHESIS; CHEMISTRY; CHILD; DNA SEQUENCE; GENE REGULATORY NETWORK; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PROTEIN STABILITY; RADIOGRAPHY; REPRODUCIBILITY; YOUNG ADULT;

ADULT; ALKALINE PHOSPHATASE; AMINO ACID SEQUENCE; BASE SEQUENCE; CELL DIFFERENTIATION; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE I; DNA, COMPLEMENTARY; EXOME; EYE PROTEINS; FEMALE; GENE REGULATORY NETWORKS; HUMANS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE GROWTH FACTORS; OSTEOBLASTS; OSTEOCALCIN; OSTEOGENESIS IMPERFECTA; PROTEIN STABILITY; REPRODUCIBILITY OF RESULTS; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SERPINS; YOUNG ADULT;

EID: 84901266358     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2173     Document Type: Article

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