{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T22:25:48Z","timestamp":1787955948563,"version":"build-2784847793"},"reference-count":49,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,9,23]],"date-time":"2018-09-23T00:00:00Z","timestamp":1537660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012021","name":"Iran University of Medical Sciences","doi-asserted-by":"publisher","award":["94\u201004\u201030\u201026665"],"award-info":[{"award-number":["94\u201004\u201030\u201026665"]}],"id":[{"id":"10.13039\/100012021","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Filaggrin is a key structural epidermal protein in terminal differentiation and formation of skin barrier. The important role of filaggrin and its effects in various cutaneous and noncutaneous disorders initiated a cascade of considerable research in recent years. Loss\u2010of\u2010function mutations in <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic>, the human gene encoding profilaggrin\/filaggrin, is the cause of the common skin condition ichthyosis vulgaris (<jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>) and major genetic predisposing factor for atopic dermatitis (<jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content>). Several null mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic> gene that lead to a decrease or absence of filaggrin in skin and predispose these conditions have been described.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The aim of this study was to investigative genetic polymorphism of <jats:italic><jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content><\/jats:italic> in Iranian patients with <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content><jats:bold>.<\/jats:bold><\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In the current study, we carried out full sequencing of the entire <jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content> coding region in 30 <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> patients and 30 <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> patients, and also 60 healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our research, we identified 43 variants reported previously and two novel variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In our study, in the <jats:styled-content style=\"fixed-case\">AD<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> patients, loss\u2010of\u2010function <jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content> mutation was not found. This means that another mechanism other than <jats:styled-content style=\"fixed-case\">FLG<\/jats:styled-content> nonsense mutation is involved in the pathogenesis of these patients<jats:bold>.<\/jats:bold><\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.14213","type":"journal-article","created":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T06:03:59Z","timestamp":1537769039000},"page":"1485-1491","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients"],"prefix":"10.1111","volume":"57","author":[{"given":"Bita","family":"Hassani","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Iran University of Medical Sciences (IUMS) Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Isaian","sequence":"additional","affiliation":[{"name":"Department of Pathology Tehran University of Medical Sciences (TUMS) Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mansoureh","family":"Shariat","sequence":"additional","affiliation":[{"name":"Department of Immunology and Allergy Children's Medical Center Tehran University of Medical Sciences (TUMS) Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasan","family":"Mollanoori","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Iran University of Medical Sciences (IUMS) Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soheila","family":"Sotoudeh","sequence":"additional","affiliation":[{"name":"Department of Dermathology Children's Medical Center Tehran University of Medical Sciences (TUMS) Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vahid","family":"Babaei","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Iran University of Medical Sciences (IUMS) Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arghavan","family":"Ziaali","sequence":"additional","affiliation":[{"name":"Children's Medical Center Tehran University of Medical Sciences (TUMS) Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Teimourian","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Iran University of Medical Sciences (IUMS) Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ad.2013.10.019"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2332\/allergolint.10-RAI-0270"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.07.013"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.445"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep01731"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12219"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2795(77)90055-1"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.7.4097"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12338501"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)35905-2"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00492a018"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2020"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.033969"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.393"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1398-9995.2009.02080.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2011.01.053"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.22512.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2007.00691.x"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1396-0296.2004.04S1005.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1743"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1767"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09582.x"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1011040"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5493.947"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.435"},{"key":"e_1_2_6_27_1","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1002\/9780470750520.ch34","volume-title":"Disorders of keratinization. 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