Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humansReportar como inadecuado




Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

(2013)ORPHANET JOURNAL OF RARE DISEASES.8. Mark abstract Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous brittle bone disorder. Whereas dominant OI is mostly due to heterozygous mutations in either COL1A1 or COL1A2, encoding type I procollagen, recessive OI is caused by biallelic mutations in genes encoding proteins involved in type I procollagen processing or chaperoning. Hitherto, some OI cases remain molecularly unexplained. We detected a homozygous genomic deletion of CREB3L1 in a family with severe OI. CREB3L1 encodes OASIS, an endoplasmic reticulum-stress transducer that regulates type I procollagen expression during murine bone formation. This is the first report linking CREB3L1 to human recessive OI, thereby expanding the OI gene spectrum.

Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-4226025



Autor: Sofie Symoens , Fransiska Malfait , Sanne D-hondt , Bert Callewaert , Annelies Dheedene , Wouter Steyaert , Hans Peter Bächinger,

Fuente: https://biblio.ugent.be/publication/4226025



DESCARGAR PDF




Documentos relacionados