{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T09:09:25Z","timestamp":1790932165592,"version":"4.1.0"},"reference-count":26,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; Atopic dermatitis (AD) is significantly associated with keratoconus (KC). An inherited component for KC has been suggested. Filaggrin &lt;i&gt;(FLG)&lt;\/i&gt; mutations are a strong genetic risk factor for AD. Since filaggrin is also expressed in the corneal epithelium, we hypothesized a common aetiology for ichthyosis vulgaris (IV), AD and KC. &lt;i&gt;Objectives:&lt;\/i&gt; We examined the prevalence of AD and IV in a KC population. We also studied the expression of filaggrin in normal and KC cornea and analysed 2 prevalent loss-of-function &lt;i&gt;FLG&lt;\/i&gt; alleles (R501X and 2282del4) in a KC population. Finally we examined whether the population with KC and &lt;i&gt;FLG&lt;\/i&gt; mutations had specific clinical characteristics. &lt;i&gt;Results:&lt;\/i&gt; Of 89 KC patients, 38 had current or a history of AD and\/or IV. Five patients were carriers of at least 1 &lt;i&gt;FLG&lt;\/i&gt; mutant allele and had a clinical diagnosis of AD and IV with a severer KC. &lt;i&gt;Conclusion:&lt;\/i&gt; The low frequency of &lt;i&gt;FLG&lt;\/i&gt; mutations is surprising since 42.7% of our KC population had AD associated or not with IV; the expected frequency would have been 12\u201315%, based on our previous studies. Further studies are required to look at other possible &lt;i&gt;FLG &lt;\/i&gt;mutations or other candidate genes.<\/jats:p>","DOI":"10.1159\/000328408","type":"journal-article","created":{"date-parts":[[2011,6,23]],"date-time":"2011-06-23T07:18:15Z","timestamp":1308813495000},"page":"336-341","source":"Crossref","is-referenced-by-count":36,"title":["A Prospective Study of Filaggrin Null Mutations in Keratoconus Patients with or without Atopic Disorders"],"prefix":"10.1159","volume":"222","author":[{"given":"C.","family":"Droitcourt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Touboul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Ged","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Ezzedine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Cario-Andr\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"de Verneuil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Colin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ta\u00efeb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2011,6,23]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2FS0039-6257%2897%2900119-7"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136%2Fbmj.2.5468.977"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136%2Fbjo.73.10.816"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1136%2Fbjo.84.8.834"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097%2FICO.0b013e3180de1e04"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1600-0536.1999.tb06125.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1743"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1767"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jaci.2006.05.004"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jaci.2006.07.026"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.2006.07500.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.jid.5700587"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.jid.5700579"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.2340%2F00015555-0329"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.jid.5700630"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jaci.2008.02.014"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.jid.5701253"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038%2Fjid.2008.413"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1468-3083.2009.03469.x"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jaci.2009.03.036"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1398-9995.2009.02080.x"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1167%2Fiovs.05-1129"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.1994.tb08532.x"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1159%2F000245677"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1038%2Fng2020"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.2009.09582.x"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/328408","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/328408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:20:49Z","timestamp":1745436049000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000328408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":26,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2011,9,1]]},"published-print":{"date-parts":[[2011,9,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000328408","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"value":"1018-8665","type":"print"},{"value":"1421-9832","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]}}}