dc.contributor.author | Callewaert, Bert | |
dc.contributor.author | Dheedene, Annelies | |
dc.contributor.author | Steyaert, Wouter | |
dc.contributor.author | Bachinger, Hans Peter | |
dc.contributor.author | De Paepe, Anne | |
dc.contributor.author | Coucke, Paul J. | |
dc.contributor.author | Kayserili, Hulya | |
dc.contributor.author | Symoens, Sofie | |
dc.contributor.author | Malfait, Fransiska | |
dc.contributor.author | D'hondt, Sanne | |
dc.date.accessioned | 2021-03-05T08:36:48Z | |
dc.date.available | 2021-03-05T08:36:48Z | |
dc.identifier.citation | Symoens S., Malfait F., D'hondt S., Callewaert B., Dheedene A., Steyaert W., Bachinger H. P. , De Paepe A., Kayserili H., Coucke P. J. , "Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans", ORPHANET JOURNAL OF RARE DISEASES, cilt.8, 2013 | |
dc.identifier.issn | 1750-1172 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_99c36377-56cd-478d-b9e3-b7cff815fbf2 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/103397 | |
dc.identifier.uri | https://doi.org/10.1186/1750-1172-8-154 | |
dc.description.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. | |
dc.language.iso | eng | |
dc.subject | Yaşam Bilimleri | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | TIP, ARAŞTIRMA VE DENEYSEL | |
dc.subject | Klinik Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Tıbbi Ekoloji ve Hidroklimatoloji | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.title | Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans | |
dc.type | Makale | |
dc.relation.journal | ORPHANET JOURNAL OF RARE DISEASES | |
dc.contributor.department | Ghent University , , | |
dc.identifier.volume | 8 | |
dc.contributor.firstauthorID | 31874 | |