{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:22:29Z","timestamp":1791332549537,"version":"4.3.1"},"reference-count":21,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>Dunnigan-type partial lipodystrophy (familial partial lipodystrophy, Dunnigan variety, FPLD2) can be caused by &lt;i&gt;LMNA&lt;\/i&gt; mutations. We identified a novel heterozygous &lt;i&gt;LMNA&lt;\/i&gt; mutation, P485R, in a patient referred to the International Registry of Werner Syndrome because of features consistent with that of progeroid disorder but who was wild type at the &lt;i&gt;WRN &lt;\/i&gt;locus. The novel mutation is located 2 amino acids away from the canonical &lt;i&gt;FPLD&lt;\/i&gt; mutations in exon 8 of the &lt;i&gt;LMNA&lt;\/i&gt; gene. Immunocytochemical analysis revealed abnormal nuclear morphology characteristic of laminopathies within primary fibroblast cultures, but not in a lymphoblastoid cell line, in keeping with previous observations. Our findings indicate that FPLD2 should be considered in the differential diagnosis of the Werner syndrome.<\/jats:p>","DOI":"10.1159\/000320166","type":"journal-article","created":{"date-parts":[[2017,4,18]],"date-time":"2017-04-18T21:35:43Z","timestamp":1492551343000},"page":"127-132","source":"Crossref","is-referenced-by-count":14,"title":["A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features"],"prefix":"10.1159","volume":"1","author":[{"given":"B.","family":"Saha","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Lessel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.M.","family":"Hisama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.F.","family":"Leistritz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Friedrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.M.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Kubisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Oshima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2010,9,14]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1152%2Fphysrev.00047.2005"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F9.1.109"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2803%2914069-X"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.83.17.6450"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.85.5.1776"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJMra025261"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2009-0472"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.2337%2Fdiacare.26.5.1350"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2005.00447.x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.yexcr.2007.03.023"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.20337"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.yexcr.2007.08.004"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2007.00740.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.bbrc.2006.11.070"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2133.2002.04948.x"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1532-5415.2010.02948.x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038%2F72807"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1086%2F302836"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2009.01350.x"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2007-2521"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.yexcr.2007.03.028"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/320166","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/320166","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:48:35Z","timestamp":1745437715000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000320166"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":21,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2010,9,1]]},"published-print":{"date-parts":[[2010,9,14]]}},"URL":"https:\/\/doi.org\/10.1159\/000320166","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010]]}}}