{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T22:39:45Z","timestamp":1792190385874,"version":"4.4.0"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"22","license":[{"start":{"date-parts":[[2018,7,14]],"date-time":"2018-07-14T00:00:00Z","timestamp":1531526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011102","name":"European Union Seventh Framework Programme","doi-asserted-by":"publisher","award":["FP7\/2007-2013"],"award-info":[{"award-number":["FP7\/2007-2013"]}],"id":[{"id":"10.13039\/100011102","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011102","name":"European Union Seventh Framework Programme","doi-asserted-by":"publisher","award":["602300"],"award-info":[{"award-number":["602300"]}],"id":[{"id":"10.13039\/100011102","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["203128\/Z\/16\/Z"],"award-info":[{"award-number":["203128\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000770","name":"University of Manchester","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000770","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,11,15]]},"DOI":"10.1093\/hmg\/ddy253","type":"journal-article","created":{"date-parts":[[2018,7,14]],"date-time":"2018-07-14T05:51:19Z","timestamp":1531547479000},"page":"3840-3853","source":"Crossref","is-referenced-by-count":29,"title":["Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the\n                    <i>Col10a1<\/i>\n                    gene"],"prefix":"10.1093","volume":"27","author":[{"given":"Mitra","family":"Forouhan","sequence":"first","affiliation":[{"name":"Wellcome Centre for Cell-Matrix Research, Faculty of Biology, Medicine and Health and Manchester Academic Health Science Centre, University of Manchester, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Sonntag","sequence":"additional","affiliation":[{"name":"PolyGene AG, Riedmattstr. 9, CH-8153 R\u00fcmlang, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond P","family":"Boot-Handford","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Cell-Matrix Research, Faculty of Biology, Medicine and Health and Manchester Academic Health Science Centre, University of Manchester, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,7,14]]},"reference":[{"key":"key\n\t\t\t\t2018110506224234200_ref1","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1093\/hmg\/ddg054","article-title":"Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage","volume":"12","author":"Bateman","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t2018110506224234200_ref2","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1002\/humu.20183","article-title":"Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia","volume":"25","author":"Bateman","year":"2005","journal-title":"Hum. Mutation"},{"key":"key\n\t\t\t\t2018110506224234200_ref3","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1172\/JCI1976","article-title":"A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in Schmid metaphyseal chondrodysplasia","volume":"101","author":"Chan","year":"1998","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t2018110506224234200_ref4","first-page":"74","article-title":"RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer","volume":"15","author":"Culbertson","year":"1999","journal-title":"T.I.G."},{"key":"key\n\t\t\t\t2018110506224234200_ref5","doi-asserted-by":"crossref","first-page":"2551","DOI":"10.1242\/jcs.120220","article-title":"Nonsense-mediated mRNA decay of collagen\u2014emerging complexity in RNA surveillance mechanisms","volume":"126","author":"Fang","year":"2013","journal-title":"J. Cell Sci."},{"key":"key\n\t\t\t\t2018110506224234200_ref6","doi-asserted-by":"crossref","DOI":"10.1016\/j.matbio.2018.03.004","article-title":"Paradoxical roles of ATF6alpha and ATF6beta in modulating disease severity caused by mutations in collagen X","author":"Forouhan","year":"2018","journal-title":"Mat. Biol."},{"key":"key\n\t\t\t\t2018110506224234200_ref7","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1093\/hmg\/8.10.1893","article-title":"Nonsense-mediated mRNA decay in health and disease","volume":"8","author":"Frischmyer","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t2018110506224234200_ref8","doi-asserted-by":"crossref","first-page":"149","DOI":"10.2131\/jts.31.149","article-title":"Quantitative measurement of spliced XBP1 mRNA as an indicator of endoplasmic reticulum stress","volume":"31","author":"Hirota","year":"2006","journal-title":"J. Tox Sci."},{"key":"key\n\t\t\t\t2018110506224234200_ref9","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1093\/hmg\/ddm067","article-title":"COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid","volume":"16","author":"Ho","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t2018110506224234200_ref10","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0117016","article-title":"Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth","volume":"10","author":"Kung","year":"2015","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t2018110506224234200_ref11","doi-asserted-by":"crossref","first-page":"3861","DOI":"10.1172\/JCI93094","article-title":"Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism","volume":"127","author":"Mullan","year":"2017","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t2018110506224234200_ref12","doi-asserted-by":"crossref","first-page":"27","DOI":"10.4103\/0976-0105.177703","article-title":"A simple practice guide for dose conversion between animals and human","volume":"7","author":"Nair","year":"2016","journal-title":"J. Basic Clin. Pharm."},{"key":"key\n\t\t\t\t2018110506224234200_ref13","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000691","article-title":"Targeted induction of endoplasmic reticulum stress induces cartilage pathology","volume":"5","author":"Rajpar","year":"2009","journal-title":"PLoS Genet."},{"key":"key\n\t\t\t\t2018110506224234200_ref14","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1016\/j.ajhg.2008.01.006","article-title":"Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3\u2032 UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia","volume":"82","author":"Tan","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t2018110506224234200_ref15","doi-asserted-by":"crossref","first-page":"e44","DOI":"10.1371\/journal.pbio.0050044","article-title":"Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function","volume":"5","author":"Tsang","year":"2007","journal-title":"PLoS Biol."},{"key":"key\n\t\t\t\t2018110506224234200_ref16","first-page":"169","article-title":"Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid","volume":"54","author":"Wallis","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t2018110506224234200_ref17","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ng0993-79","article-title":"A type X collagen mutation causes Schmid metaphyseal chondrodysplasia","volume":"5","author":"Warman","year":"1993","journal-title":"Nature Genet."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/27\/22\/3840\/26353543\/ddy253.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,20]],"date-time":"2019-10-20T16:40:57Z","timestamp":1571589657000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/27\/22\/3840\/5053937"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,14]]},"references-count":17,"journal-issue":{"issue":"22","published-online":{"date-parts":[[2018,7,14]]},"published-print":{"date-parts":[[2018,11,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddy253","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.733645989.793573464","asserted-by":"object"}]},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,11]]},"published":{"date-parts":[[2018,7,14]]}}}