{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T03:51:43Z","timestamp":1782964303779,"version":"3.54.5"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2019,1,17]],"date-time":"2019-01-17T00:00:00Z","timestamp":1547683200000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100010661","name":"Horizon 2020","doi-asserted-by":"publisher","award":["794365"],"award-info":[{"award-number":["794365"]}],"id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004385","name":"Ghent University","doi-asserted-by":"publisher","award":["08\/01M01108"],"award-info":[{"award-number":["08\/01M01108"]}],"id":[{"id":"10.13039\/501100004385","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Research Foundation Flanders","doi-asserted-by":"publisher","award":["1842318N"],"award-info":[{"award-number":["1842318N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Research Foundation Flanders","doi-asserted-by":"publisher","award":["12Q5917N"],"award-info":[{"award-number":["12Q5917N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,6,1]]},"DOI":"10.1093\/hmg\/ddz017","type":"journal-article","created":{"date-parts":[[2019,1,15]],"date-time":"2019-01-15T15:19:05Z","timestamp":1547565545000},"page":"1801-1809","source":"Crossref","is-referenced-by-count":30,"title":["A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta"],"prefix":"10.1093","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7194-6651","authenticated-orcid":false,"given":"Brecht","family":"Guillemyn","sequence":"first","affiliation":[{"name":"Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"KO\u00c7University School of Medicine (KUSoM) Medical Genetics Department, Topkapi Zeytinburnu, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn","family":"Demuynck","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Sips","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9421-4496","authenticated-orcid":false,"given":"Delfien","family":"Syx","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J","family":"Coucke","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fransiska","family":"Malfait","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofie","family":"Symoens","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,1,16]]},"reference":[{"key":"2019051613100098700_ref1","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"key":"2019051613100098700_ref2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis imperfecta","volume":"3","author":"Marini","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"key":"2019051613100098700_ref3","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.trsl.2016.11.005","article-title":"Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia","volume":"181","author":"Kang","year":"2017","journal-title":"Transl. Res."},{"key":"2019051613100098700_ref4","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.ajhg.2012.06.011","article-title":"A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus","volume":"91","author":"Semler","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"2019051613100098700_ref5","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.ajhg.2009.09.001","article-title":"PPIB mutations cause severe osteogenesis imperfecta","volume":"85","author":"Van Dijk","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"2019051613100098700_ref6","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.ajhg.2011.01.015","article-title":"Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta","volume":"88","author":"Becker","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"2019051613100098700_ref7","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.cell.2006.08.039","article-title":"CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta","volume":"127","author":"Morello","year":"2006","journal-title":"Cell"},{"key":"2019051613100098700_ref8","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.4161\/cc.6.14.4474","article-title":"Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development","volume":"6","author":"Marini","year":"2007","journal-title":"Cell Cycle"},{"key":"2019051613100098700_ref9","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.ajhg.2010.01.034","article-title":"Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta","volume":"86","author":"Christiansen","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"2019051613100098700_ref10","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1186\/1471-2350-12-152","article-title":"Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta","volume":"12","author":"Steinlein","year":"2011","journal-title":"BMC Med. Genet."},{"key":"2019051613100098700_ref11","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ajmg.a.30231","article-title":"Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2","volume":"131","author":"Ha-Vinh","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"2019051613100098700_ref12","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1002\/jbmr.2473","article-title":"Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta","volume":"30","author":"Syx","year":"2015","journal-title":"J. Bone Miner. Res."},{"key":"2019051613100098700_ref13","first-page":"582","article-title":"A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta","volume":"34","author":"Volodarsky","year":"2013","journal-title":"Hum. Mutat."},{"key":"2019051613100098700_ref14","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ajhg.2013.02.010","article-title":"Mutations in WNT1 cause different forms of bone fragility","volume":"92","author":"Keupp","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"2019051613100098700_ref15","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1186\/1750-1172-8-154","article-title":"Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans","volume":"8","author":"Symoens","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"2019051613100098700_ref16","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1016\/j.ajhg.2015.04.021","article-title":"Recessive osteogenesis imperfecta caused by missense mutations in SPARC","volume":"96","author":"Mendoza-Londono","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"2019051613100098700_ref17","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms11920","article-title":"MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta","volume":"7","author":"Lindert","year":"2016","journal-title":"Nat. Commun."},{"key":"2019051613100098700_ref18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/dds371","article-title":"Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen","volume":"22","author":"Schwarze","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"2019051613100098700_ref19","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0169-328X(99)00102-3","article-title":"Identification of a novel gene, OASIS, which encodes for a putative CREB\/ATF family transcription factor in the long-term cultured astrocytes and gliotic tissue","volume":"69","author":"Honma","year":"1999","journal-title":"Brain Res. Mol. Brain Res."},{"key":"2019051613100098700_ref20","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1038\/ncb1213","article-title":"OASIS, a CREB\/ATF-family member, modulates UPR signalling in astrocytes","volume":"7","author":"Kondo","year":"2005","journal-title":"Nat. Cell Biol."},{"key":"2019051613100098700_ref21","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1038\/ncb1963","article-title":"Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation","volume":"11","author":"Murakami","year":"2009","journal-title":"Nat. Cell Biol."},{"key":"2019051613100098700_ref22","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/gim.2017.115","article-title":"Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively","volume":"20","author":"Keller","year":"2018","journal-title":"Genet. Med."},{"key":"2019051613100098700_ref23","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.bone.2018.06.019","article-title":"Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy","volume":"114","author":"Lindahl","year":"2018","journal-title":"Bone"},{"key":"2019051613100098700_ref24","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"2019051613100098700_ref25","doi-asserted-by":"crossref","DOI":"10.1002\/0470867302","volume-title":"Bioinformatics for Geneticists","author":"Barnes","year":"2003"},{"key":"2019051613100098700_ref26","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nprot.2010.5","article-title":"I-TASSER: a unified platform for automated protein structure and function prediction","volume":"5","author":"Roy","year":"2010","journal-title":"Nat. Protoc."},{"key":"2019051613100098700_ref27","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1471-2105-9-40","article-title":"I-TASSER server for protein 3D structure prediction","volume":"9","author":"Zhang","year":"2008","journal-title":"BMC Bioinformatics"},{"key":"2019051613100098700_ref28","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/nmeth.3213","article-title":"The I-TASSER Suite: protein structure and function prediction","volume":"12","author":"Yang","year":"2015","journal-title":"Nat. Methods"},{"key":"2019051613100098700_ref29","doi-asserted-by":"crossref","first-page":"10171","DOI":"10.1073\/pnas.0900604106","article-title":"Systematic identification of cell cycle-dependent yeast nucleocytoplasmic shuttling proteins by prediction of composite motifs","volume":"106","author":"Kosugi","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2019051613100098700_ref30","doi-asserted-by":"crossref","first-page":"35242","DOI":"10.1074\/jbc.M007293200","article-title":"The structure of a CREB bZIP\u00b7somatostatin CRE complex reveals the basis for selective dimerization and divalent cation-enhanced DNA binding","volume":"275","author":"Schumacher","year":"2000","journal-title":"J. Biol. Chem."},{"key":"2019051613100098700_ref31","doi-asserted-by":"crossref","first-page":"W201","DOI":"10.1093\/nar\/gkx390","article-title":"DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins","volume":"45","author":"Raimondi","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"2019051613100098700_ref32","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera\u2014a visualization system for exploratory research and analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J. Comput. Chem."},{"key":"2019051613100098700_ref33","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1038\/ncb1962","article-title":"Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis","volume":"11","author":"Saito","year":"2009","journal-title":"Nat. Cell Biol."},{"key":"2019051613100098700_ref34","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s00418-018-1689-2","article-title":"COPII-dependent ER export in animal cells: adaptation and control for diverse cargo","volume":"150","author":"McCaughey","year":"2018","journal-title":"Histochem. Cell Biol."},{"key":"2019051613100098700_ref35","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ajhg.2015.01.002","article-title":"Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta","volume":"96","author":"Garbes","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"2019051613100098700_ref36","doi-asserted-by":"crossref","first-page":"2924","DOI":"10.1242\/jcs.044032","article-title":"Organisation of human ER-exit sites: requirements for the localisation of Sec16 to transitional ER","volume":"122","author":"Hughes","year":"2009","journal-title":"J. Cell Sci."},{"key":"2019051613100098700_ref37","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.biocel.2013.11.005","article-title":"Trafficking mechanisms of extracellular matrix macromolecules: insights from vertebrate development and human diseases","volume":"47","author":"Unlu","year":"2014","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"2019051613100098700_ref38","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1038\/nature10822","article-title":"Ubiquitin-dependent regulation of COPII coat size and function","volume":"482","author":"Jin","year":"2012","journal-title":"Nature"},{"key":"2019051613100098700_ref39","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1002\/humu.20654","article-title":"Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker","volume":"29","author":"Wildeman","year":"2008","journal-title":"Hum. Mutat."},{"key":"2019051613100098700_ref40","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/S0959-440X(02)00344-5","article-title":"Rotamer libraries in the 21st century","volume":"12","author":"Dunbrack","year":"2002","journal-title":"Curr. Opin. Struct. Biol."},{"key":"2019051613100098700_ref41","doi-asserted-by":"crossref","first-page":"4146","DOI":"10.1210\/en.2010-0137","article-title":"OASIS\/CREB3L1 induces expression of genes involved in extracellular matrix production but not classical endoplasmic reticulum stress response genes in pancreatic beta-cells","volume":"151","author":"Vellanki","year":"2010","journal-title":"Endocrinology"},{"key":"2019051613100098700_ref42","doi-asserted-by":"crossref","first-page":"R19","DOI":"10.1186\/gb-2007-8-2-r19","article-title":"qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data","volume":"8","author":"Hellemans","year":"2007","journal-title":"Genome Biol."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/28\/11\/1801\/28659069\/ddz017.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,16]],"date-time":"2019-05-16T13:10:57Z","timestamp":1558012257000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/28\/11\/1801\/5290009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,16]]},"references-count":42,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2019,1,16]]},"published-print":{"date-parts":[[2019,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddz017","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,6,1]]},"published":{"date-parts":[[2019,1,16]]}}}