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

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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.
Keywords
Type I collagen, Osteogenesis imperfecta, OASIS, CREB3L1, Endoplasmic reticulum stress

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Chicago
Symoens, Sofie, Fransiska Malfait, Sanne D’hondt, Bert Callewaert, Annelies Dheedene, Wouter Steyaert, Hans Peter Bächinger, Anne De Paepe, Hulya Kayserili, and Paul Coucke. 2013. “Deficiency for the ER-stress Transducer OASIS Causes Severe Recessive Osteogenesis Imperfecta in Humans.” Orphanet Journal of Rare Diseases 8.
APA
Symoens, Sofie, Malfait, F., D’hondt, S., Callewaert, B., Dheedene, A., Steyaert, W., Bächinger, H. P., et al. (2013). Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. ORPHANET JOURNAL OF RARE DISEASES, 8.
Vancouver
1.
Symoens S, Malfait F, D’hondt S, Callewaert B, Dheedene A, Steyaert W, et al. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. ORPHANET JOURNAL OF RARE DISEASES. 2013;8.
MLA
Symoens, Sofie et al. “Deficiency for the ER-stress Transducer OASIS Causes Severe Recessive Osteogenesis Imperfecta in Humans.” ORPHANET JOURNAL OF RARE DISEASES 8 (2013): n. pag. Print.
@article{4226025,
  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.},
  articleno    = {8},
  author       = {Symoens, Sofie and Malfait, Fransiska and D'hondt, Sanne and Callewaert, Bert and Dheedene, Annelies and Steyaert, Wouter and Bächinger, Hans Peter and De Paepe, Anne and Kayserili, Hulya and Coucke, Paul},
  issn         = {1750-1172},
  journal      = {ORPHANET JOURNAL OF RARE DISEASES},
  keywords     = {Type I collagen,Osteogenesis imperfecta,OASIS,CREB3L1,Endoplasmic reticulum stress},
  language     = {eng},
  pages        = {6},
  title        = {Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans},
  url          = {http://dx.doi.org/10.1186/1750-1172-8-154},
  volume       = {8},
  year         = {2013},
}

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