{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:41:21Z","timestamp":1753882881895,"version":"3.41.2"},"reference-count":27,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p> Lipoid proteinosis is a rare autosomal recessive genodermatosis that is caused by loss-of-function mutations in the extracellular matrix protein 1 gene. This study identifies a novel nonsense mutation in exon 9 of the extracellular matrix protein 1 gene associated with lipoid proteinosis, contributing to recent advances in our understanding of the molecular genetics underlying this disease. It is important to identify the mutations in the extracellular matrix protein 1 gene that are associated with lipoid proteinosis and how these affect protein function. Understanding the molecular basis for such genetic disorders may lead to novel therapeutic approaches for treating hereditary genodermatoses. <\/jats:p>","DOI":"10.1177\/2050313x19850359","type":"journal-article","created":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T06:36:34Z","timestamp":1558334194000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report"],"prefix":"10.1177","volume":"7","author":[{"given":"Feras M","family":"Ghazawi","sequence":"first","affiliation":[{"name":"Division of Dermatology, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etienne Saint-Cyr","family":"Proulx","sequence":"additional","affiliation":[{"name":"H\u00f4pital de la Cit\u00e9-de-la-Sant\u00e9, Laval, QC, Canada"},{"name":"Innovaderm Research Inc., Montreal, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Jafarian","sequence":"additional","affiliation":[{"name":"Division of Pediatric Dermatology, McGill University Health Center, Montreal Children\u2019s Hospital, Montreal, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,5,19]]},"reference":[{"doi-asserted-by":"publisher","key":"bibr1-2050313X19850359","DOI":"10.1038\/sj.jid.5701231"},{"doi-asserted-by":"publisher","key":"bibr2-2050313X19850359","DOI":"10.1016\/j.jvoice.2015.12.007"},{"doi-asserted-by":"publisher","key":"bibr3-2050313X19850359","DOI":"10.1093\/hmg\/11.7.833"},{"doi-asserted-by":"publisher","key":"bibr4-2050313X19850359","DOI":"10.1046\/j.1523-1747.2000.00916.x"},{"doi-asserted-by":"publisher","key":"bibr5-2050313X19850359","DOI":"10.1186\/s13058-014-0479-6"},{"doi-asserted-by":"publisher","key":"bibr6-2050313X19850359","DOI":"10.1096\/fsb2fj990934com"},{"doi-asserted-by":"publisher","key":"bibr7-2050313X19850359","DOI":"10.1016\/S8756-3282(00)00428-2"},{"doi-asserted-by":"publisher","key":"bibr8-2050313X19850359","DOI":"10.1111\/j.1365-2133.2005.06842.x"},{"doi-asserted-by":"publisher","key":"bibr9-2050313X19850359","DOI":"10.1007\/BF02158983"},{"doi-asserted-by":"publisher","key":"bibr10-2050313X19850359","DOI":"10.1111\/j.1365-2133.2004.06076.x"},{"doi-asserted-by":"publisher","key":"bibr11-2050313X19850359","DOI":"10.1016\/S0140-6736(69)91827-3"},{"issue":"4","key":"bibr12-2050313X19850359","first-page":"86","volume":"20","author":"Javeria J","year":"2008","journal-title":"J Ayub Med Coll Abbottabad"},{"doi-asserted-by":"publisher","key":"bibr13-2050313X19850359","DOI":"10.1111\/j.1365-2133.2009.09275.x"},{"doi-asserted-by":"publisher","key":"bibr14-2050313X19850359","DOI":"10.1186\/1746-1596-6-69"},{"doi-asserted-by":"publisher","key":"bibr15-2050313X19850359","DOI":"10.5897\/AJB11.211"},{"doi-asserted-by":"publisher","key":"bibr16-2050313X19850359","DOI":"10.1111\/j.1600-0625.2007.00608.x"},{"doi-asserted-by":"publisher","key":"bibr17-2050313X19850359","DOI":"10.1111\/j.1365-2230.2011.04153.x"},{"key":"bibr18-2050313X19850359","first-page":"189","volume":"34","author":"Scott F","year":"1960","journal-title":"South Afr Med J"},{"doi-asserted-by":"publisher","key":"bibr19-2050313X19850359","DOI":"10.1186\/1479-5876-12-85"},{"doi-asserted-by":"publisher","key":"bibr20-2050313X19850359","DOI":"10.1111\/j.1365-2133.1988.tb03260.x"},{"doi-asserted-by":"publisher","key":"bibr21-2050313X19850359","DOI":"10.1046\/j.1525-1470.2002.00104.x"},{"key":"bibr22-2050313X19850359","doi-asserted-by":"crossref","first-page":"154","DOI":"10.2340\/0001555576154155","volume":"76","author":"Gruber F","year":"1996","journal-title":"Acta Derm Venereol"},{"doi-asserted-by":"publisher","key":"bibr23-2050313X19850359","DOI":"10.1111\/1346-8138.13261"},{"key":"bibr24-2050313X19850359","first-page":"324506","volume":"2012","author":"Gunduz O","year":"2012","journal-title":"Case Rep Dermatol Med"},{"doi-asserted-by":"publisher","key":"bibr25-2050313X19850359","DOI":"10.1111\/j.1468-3083.2008.02928.x"},{"doi-asserted-by":"publisher","key":"bibr26-2050313X19850359","DOI":"10.1111\/dth.12247"},{"doi-asserted-by":"publisher","key":"bibr27-2050313X19850359","DOI":"10.4103\/JCAS.JCAS_29_18"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X19850359","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X19850359","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X19850359","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T15:48:37Z","timestamp":1740844117000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X19850359"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1]]},"references-count":27,"alternative-id":["10.1177\/2050313X19850359"],"URL":"https:\/\/doi.org\/10.1177\/2050313x19850359","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"type":"print","value":"2050-313X"},{"type":"electronic","value":"2050-313X"}],"subject":[],"published":{"date-parts":[[2019,1]]},"article-number":"2050313X19850359"}}