{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T19:36:46Z","timestamp":1758397006710,"version":"3.37.3"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2017,8,10]],"date-time":"2017-08-10T00:00:00Z","timestamp":1502323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2017,8,10]],"date-time":"2017-08-10T00:00:00Z","timestamp":1502323200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genome Var"],"DOI":"10.1038\/hgv.2017.33","type":"journal-article","created":{"date-parts":[[2017,8,10]],"date-time":"2017-08-10T08:17:41Z","timestamp":1502353061000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel BBS10 mutation identified in a patient with Bardet\u2013Biedl syndrome with a violent emotional outbreak"],"prefix":"10.1038","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5321-8869","authenticated-orcid":false,"given":"Tatsuyuki","family":"Ohto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Enokizono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryuta","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mai","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisato","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aiko","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuo","family":"Imagawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryo","family":"Sumazaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Uehara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiki","family":"Takenouchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,8,10]]},"reference":[{"key":"BFhgv201733_CR1","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/ejhg.2012.115","volume":"21","author":"E Forsythe","year":"2013","unstructured":"Forsythe E, Beales PL . Bardet-Biedl syndrome. Eur J Hum Genet 2013; 21: 8\u201313.","journal-title":"Eur J Hum Genet"},{"key":"BFhgv201733_CR2","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/cge.12737","volume":"90","author":"SA Khan","year":"2016","unstructured":"Khan SA, Muhammad N, Khan MA, Kamal A, Rehman ZU, Khan S . Genetics of Human Bardet-Biedl Syndrome, an Updates. Clin Genet 2016; 90: 3\u201315.","journal-title":"Clin Genet"},{"key":"BFhgv201733_CR3","doi-asserted-by":"publisher","first-page":"2283","DOI":"10.1093\/hmg\/ddw096","volume":"25","author":"E Heon","year":"2016","unstructured":"Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A et al. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet 2016; 25: 2283\u20132294.","journal-title":"Hum Mol Genet"},{"key":"BFhgv201733_CR4","doi-asserted-by":"publisher","first-page":"3479","DOI":"10.1016\/j.febslet.2015.07.031","volume":"589","author":"R Novas","year":"2015","unstructured":"Novas R, Cardenas-Rodriguez M, Irigoin F, Badano JL . Bardet-Biedl syndrome: Is it only cilia dysfunction? FEBS Lett 2015; 589: 3479\u20133491.","journal-title":"FEBS Lett"},{"key":"BFhgv201733_CR5","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1002\/ajmg.c.30227","volume":"151C","author":"M Cardenas-Rodriguez","year":"2009","unstructured":"Cardenas-Rodriguez M, Badano JL . Ciliary biology: understanding the cellular and genetic basis of human ciliopathies. Am J Med Genet C Semin Med Genet 2009; 151C: 263\u2013280.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"BFhgv201733_CR6","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1038\/nrm3658","volume":"14","author":"H Saibil","year":"2013","unstructured":"Saibil H . Chaperone machines for protein folding, unfolding and disaggregation. Nat Rev Mol Cell Biol 2013; 14: 630\u2013642.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"BFhgv201733_CR7","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1038\/ng1771","volume":"38","author":"C Stoetzel","year":"2006","unstructured":"Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 2006; 38: 521\u2013524.","journal-title":"Nat Genet"},{"key":"BFhgv201733_CR8","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1136\/jmg.2009.073205","volume":"47","author":"G Billingsley","year":"2010","unstructured":"Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K et al. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet 2010; 47: 453\u2013463.","journal-title":"J Med Genet"},{"key":"BFhgv201733_CR9","doi-asserted-by":"publisher","first-page":"3289","DOI":"10.1091\/mbc.e11-01-0082","volume":"22","author":"HH Ward","year":"2011","unstructured":"Ward HH, Brown-Glaberman U, Wang J, Morita Y, Alper SL, Bedrick EJ et al. A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1. Mol Biol Cell 2011; 22: 3289\u20133305.","journal-title":"Mol Biol Cell"},{"key":"BFhgv201733_CR10","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1186\/s13630-015-0019-8","volume":"4","author":"N Cognard","year":"2015","unstructured":"Cognard N, Scerbo MJ, Obringer C, Yu X, Costa F, Haser E et al. Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice. Cilia 2015; 4: 10.","journal-title":"Cilia"},{"key":"BFhgv201733_CR11","doi-asserted-by":"publisher","first-page":"22","DOI":"10.2215\/CJN.03320410","volume":"6","author":"O Imhoff","year":"2011","unstructured":"Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S et al. Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol 2011; 6: 22\u201329.","journal-title":"Clin J Am Soc Nephrol"},{"key":"BFhgv201733_CR12","doi-asserted-by":"publisher","DOI":"10.6084\/m9.figshare.hgv.1387","author":"Tatsuyuki Ohto","year":"2017","unstructured":"Ohto, Tatsuyuki HGV Database http:\/\/dx.doi.org\/10.6084\/m9.figshare.hgv.1387 (2017)"},{"key":"BFhgv201733_CR13","doi-asserted-by":"publisher","DOI":"10.6084\/m9.figshare.hgv.1390","author":"Tatsuyuki Ohto","year":"2017","unstructured":"Ohto, Tatsuyuki HGV Database http:\/\/dx.doi.org\/10.6084\/m9.figshare.hgv.1390 (2017)"}],"container-title":["Human Genome Variation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/hgv201733.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/hgv201733","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/hgv201733","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/www.nature.com\/articles\/hgv201733.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T19:12:10Z","timestamp":1671736330000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/hgv201733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,10]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,12,14]]}},"alternative-id":["BFhgv201733"],"URL":"https:\/\/doi.org\/10.1038\/hgv.2017.33","relation":{"references":[{"id-type":"doi","id":"10.6084\/m9.figshare.hgv.1387","asserted-by":"subject"},{"id-type":"doi","id":"10.6084\/m9.figshare.hgv.1390","asserted-by":"subject"}]},"ISSN":["2054-345X"],"issn-type":[{"type":"electronic","value":"2054-345X"}],"subject":[],"published":{"date-parts":[[2017,8,10]]},"assertion":[{"value":"20 March 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 June 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 June 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 August 2017","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"17033"}}