{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T07:58:00Z","timestamp":1769759880233,"version":"3.49.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2019,4,9]],"date-time":"2019-04-09T00:00:00Z","timestamp":1554768000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Belgian Science Policy Office Interuniversity Attraction Poles (BELSPO-IAP) program","award":["IAP P7\/43-BeMGI"],"award-info":[{"award-number":["IAP P7\/43-BeMGI"]}]},{"DOI":"10.13039\/501100003132","name":"Agentschap voor Innovatie door Wetenschap en Technologie","doi-asserted-by":"publisher","award":["131526"],"award-info":[{"award-number":["131526"]}],"id":[{"id":"10.13039\/501100003132","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Commissie Wetenschappelijk Onderzoek (CWO) from the University of Antwerp"},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["12D1717N"],"award-info":[{"award-number":["12D1717N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Genet Genomics"],"published-print":{"date-parts":[[2019,8]]},"DOI":"10.1007\/s00438-019-01558-8","type":"journal-article","created":{"date-parts":[[2019,4,9]],"date-time":"2019-04-09T10:04:12Z","timestamp":1554804252000},"page":"1001-1006","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Insufficient evidence for a role of SERPINF1 in otosclerosis"],"prefix":"10.1007","volume":"294","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8551-6270","authenticated-orcid":false,"given":"Hanne","family":"Valgaeren","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7051-6553","authenticated-orcid":false,"given":"Manou","family":"Sommen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3304-0706","authenticated-orcid":false,"given":"Matthias","family":"Beyens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6262-6522","authenticated-orcid":false,"given":"Geert","family":"Vandeweyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7310-6082","authenticated-orcid":false,"given":"Isabelle","family":"Schrauwen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Schepers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Schatteman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0416-4005","authenticated-orcid":false,"given":"Vedat","family":"Topsakal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5915-1079","authenticated-orcid":false,"given":"Ingeborg","family":"Dhooge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1162-6394","authenticated-orcid":false,"given":"Henricus","family":"Kunst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8116-4108","authenticated-orcid":false,"given":"Diego","family":"Zanetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8888-8483","authenticated-orcid":false,"given":"Alexander M.","family":"Huber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8072-4476","authenticated-orcid":false,"given":"Alexander","family":"Hoischen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7785-4790","authenticated-orcid":false,"given":"Erik","family":"Fransen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5105-9000","authenticated-orcid":false,"given":"Guy","family":"Van Camp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,4,9]]},"reference":[{"key":"1558_CR1","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1016\/j.ajhg.2011.01.015","volume":"88","author":"J Becker","year":"2011","unstructured":"Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C (2011) Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 88:362\u2013371","journal-title":"Am J Hum Genet"},{"key":"1558_CR2","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1007\/s00439-008-0470-3","volume":"123","author":"I Bel Hadj Ali","year":"2008","unstructured":"Bel Hadj Ali I, Thys M, Beltaief N, Schrauwen I, Hilgert N, Vanderstraeten K, Dieltjens N, Mnif E, Hachicha S, Besbes G, Ben Arab S, Van Camp G (2008) A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9. Hum Genet 123:267\u2013272","journal-title":"Hum Genet"},{"key":"1558_CR3","doi-asserted-by":"publisher","first-page":"2670","DOI":"10.1093\/bioinformatics\/btu353","volume":"30","author":"EA Boyle","year":"2014","unstructured":"Boyle EA, O\u2019Roak BJ, Martin BK, Kumar A, Shendure J (2014) MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing. Bioinformatics 30:2670\u20132672","journal-title":"Bioinformatics"},{"key":"1558_CR4","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1001\/archotol.132.4.416","volume":"132","author":"Z Brownstein","year":"2006","unstructured":"Brownstein Z, Goldfarb A, Levi H, Frydman M, Avraham KB (2006) Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. Arch Otolaryngol Head Neck Surg 132:416\u2013424","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"1558_CR5","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1136\/jmg.39.7.473","volume":"39","author":"W Chen","year":"2002","unstructured":"Chen W, Campbell CA, Green GE, Van Den Bogaert K, Komodikis C, Manolidis LS, Aconomou E, Kyamides Y, Christodoulou K, Faghel C, Giguere CM, Alford RL, Manolidis S, Van Camp G, Smith RJ (2002) Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3\u201322.3. J Med Genet 39:473\u2013477","journal-title":"J Med Genet"},{"key":"1558_CR6","doi-asserted-by":"publisher","first-page":"596","DOI":"10.1097\/00129492-200109000-00006","volume":"22","author":"F Declau","year":"2001","unstructured":"Declau F, Van Spaendonck M, Timmermans JP, Michaels L, Liang J, Qiu JP, Van de Heyning P (2001) Prevalence of otosclerosis in an unselected series of temporal bones. Otol Neurotol 22:596\u2013602","journal-title":"Otol Neurotol"},{"key":"1558_CR7","first-page":"426","volume":"10","author":"MA Gordon","year":"1989","unstructured":"Gordon MA (1989) The genetics of otosclerosis: a review. Am J Otol 10:426\u2013438","journal-title":"Am J Otol"},{"key":"1558_CR8","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1097\/MAO.0b013e318164d12c","volume":"29","author":"Y Imauchi","year":"2008","unstructured":"Imauchi Y, Jeunemaitre X, Boussion M, Ferrary E, Sterkers O, Grayeli AB (2008) Relation between renin-angiotensin-aldosterone system and otosclerosis: a genetic association and in vitro study. Otol Neurotol 29:295\u2013301","journal-title":"Otol Neurotol"},{"key":"1558_CR9","doi-asserted-by":"publisher","first-page":"e1000481","DOI":"10.1371\/journal.pgen.1000481","volume":"5","author":"B Li","year":"2009","unstructured":"Li B, Leal SM (2009) Discovery of rare variants via sequencing: implications for the design of complex trait association studies. PLoS Genet 5:e1000481","journal-title":"PLoS Genet"},{"key":"1558_CR10","first-page":"604","volume":"19","author":"MJ McKenna","year":"1998","unstructured":"McKenna MJ, Kristiansen AG, Bartley ML, Rogus JJ, Haines JL (1998) Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. Am J Otol 19:604\u2013610","journal-title":"Am J Otol"},{"key":"1558_CR11","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1093\/bioinformatics\/btr667","volume":"28","author":"FA San Lucas","year":"2012","unstructured":"San Lucas FA, Wang G, Scheet P, Peng B (2012) Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools. Bioinformatics 28:421\u2013422","journal-title":"Bioinformatics"},{"key":"1558_CR12","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1359\/jbmr.071112","volume":"23","author":"I Schrauwen","year":"2008","unstructured":"Schrauwen I, Thys M, Vanderstraeten K, Fransen E, Dieltjens N, Huyghe JR, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G (2008) Association of bone morphogenetic proteins with otosclerosis. J Bone Miner Res 23:507\u2013516","journal-title":"J Bone Miner Res"},{"key":"1558_CR13","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1016\/j.ajhg.2009.01.023","volume":"84","author":"I Schrauwen","year":"2009","unstructured":"Schrauwen I, Ealy M, Huentelman MJ, Thys M, Homer N, Vanderstraeten K, Fransen E, Corneveaux JJ, Craig DW, Claustres M, Cremers CW, Dhooge I, Van de Heyning P, Vincent R, Offeciers E, Smith RJ, Van Camp G (2009) A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet 84:328\u2013338","journal-title":"Am J Hum Genet"},{"key":"1558_CR14","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1111\/j.1399-0004.2010.01576.x","volume":"79","author":"I Schrauwen","year":"2011","unstructured":"Schrauwen I, Weegerink NJ, Fransen E, Claes C, Pennings RJ, Cremers CW, Huygen PL, Kunst HP, Van Camp G (2011) A new locus for otosclerosis, OTSC10, maps to chromosome 1q41\u201344. Clin Genet 79:495\u2013497","journal-title":"Clin Genet"},{"key":"1558_CR15","doi-asserted-by":"publisher","unstructured":"Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G and van Bokhoven H (2018) Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. Genet Med \n                    https:\/\/doi.org\/10.1038\/s41436-018-0300-5","DOI":"10.1038\/s41436-018-0300-5"},{"key":"1558_CR16","doi-asserted-by":"publisher","first-page":"2021","DOI":"10.1093\/hmg\/ddm150","volume":"16","author":"M Thys","year":"2007","unstructured":"Thys M, Schrauwen I, Vanderstraeten K, Janssens K, Dieltjens N, Van Den Bogaert K, Fransen E, Chen W, Ealy M, Claustres M, Cremers CR, Dhooge I, Declau F, Claes J, Van de Heyning P, Vincent R, Somers T, Offeciers E, Smith RJ, Van Camp G (2007a) The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Hum Mol Genet 16:2021\u20132030","journal-title":"Hum Mol Genet"},{"key":"1558_CR17","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1038\/sj.ejhg.5201761","volume":"15","author":"M Thys","year":"2007","unstructured":"Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G (2007b) A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13\u201316.1. Eur J Hum Genet 15:362\u2013368","journal-title":"Eur J Hum Genet"},{"key":"1558_CR18","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1093\/hmg\/7.2.285","volume":"7","author":"MS Tomek","year":"1998","unstructured":"Tomek MS, Brown MR, Mani SR, Ramesh A, Srisailapathy CR, Coucke P, Zbar RI, Bell AM, McGuirt WT, Fukushima K, Willems PJ, Van Camp G, Smith RJ (1998) Localization of a gene for otosclerosis to chromosome 15q25\u2013q26. Hum Mol Genet 7:285\u2013290","journal-title":"Hum Mol Genet"},{"key":"1558_CR19","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1086\/318185","volume":"68","author":"K Bogaert Van Den","year":"2001","unstructured":"Van Den Bogaert K, Govaerts PJ, Schatteman I, Brown MR, Caethoven G, Offeciers FE, Somers T, Declau F, Coucke P, Van de Heyning P, Smith RJ, Van Camp G (2001) A second gene for otosclerosis, OTSC2, maps to chromosome 7q34\u201336. Am J Hum Genet 68:495\u2013500","journal-title":"Am J Hum Genet"},{"key":"1558_CR20","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1136\/jmg.2004.018671","volume":"41","author":"K Bogaert Van Den","year":"2004","unstructured":"Van Den Bogaert K, De Leenheer EM, Chen W, Lee Y, Nurnberg P, Pennings RJ, Vanderstraeten K, Thys M, Cremers CW, Smith RJ, Van Camp G (2004) A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22\u201324. J Med Genet 41:450\u2013453","journal-title":"J Med Genet"},{"key":"1558_CR21","first-page":"2393","volume":"25","author":"JL Ziff","year":"2016","unstructured":"Ziff JL, Crompton M, Powell HR, Lavy JA, Aldren CP, Steel KP, Saeed SR, Dawson SJ (2016) Mutations and altered expression of SERPINF1 in patients with familial otosclerosis. Hum Mol Genet 25:2393\u20132403","journal-title":"Hum Mol Genet"}],"container-title":["Molecular Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-019-01558-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00438-019-01558-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-019-01558-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,7]],"date-time":"2020-04-07T23:10:27Z","timestamp":1586301027000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00438-019-01558-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,9]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["1558"],"URL":"https:\/\/doi.org\/10.1007\/s00438-019-01558-8","relation":{},"ISSN":["1617-4615","1617-4623"],"issn-type":[{"value":"1617-4615","type":"print"},{"value":"1617-4623","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,4,9]]},"assertion":[{"value":"14 September 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 April 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 April 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"All authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}