Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Symoens, Sofie ^a   Malfait, Fransiska ^a   D'Hondt, Sanne ^a   Callewaert, Bert ^a   Dheedene, Annelies ^a   Steyaert, Wouter ^a   Bächinger, Hans Peter ^b,c   De Paepe, Anne ^a   Kayserili, Hulya ^d   Coucke, Paul J ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b SHRINERS HOSPITAL FOR CHILDREN   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d ISTANBUL UNIVERSITY   (Turkey)

Author keywords

CREB3L1; Endoplasmic reticulum stress; OASIS; Osteogenesis imperfecta; Type I collagen

Indexed keywords

CREB3L1 PROTEIN; PEPTIDES AND PROTEINS; PROCOLLAGEN C PROTEINASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; ENDOPLASMIC RETICULUM STRESS; FETUS; GENE DELETION; HUMAN; NUCLEOTIDE SEQUENCE; OSSIFICATION; OSTEOGENESIS IMPERFECTA; PROTEIN EXPRESSION;

COLLAGEN TYPE I; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; ENDOPLASMIC RETICULUM STRESS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; NERVE TISSUE PROTEINS; OSTEOGENESIS IMPERFECTA; PREGNANCY;

EID: 84884681187     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-154     Document Type: Article

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