{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:22:37Z","timestamp":1761513757165},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Beh\u00e7et\u2019s disease (BD), a chronic systemic inflammatory disorder, is characterized by recurrent oral and genital mucous ulcers, uveitis and skin lesions. We performed DNA microarray analysis of peripheral blood mononuclear cell (PBMC) mRNA from 41 Japanese BD patients and revealed elevated levels of interleukin (IL) 23 receptor (<jats:italic>IL23R<\/jats:italic>) mRNA in many BD patients. DNA sequencing around a SNV (Rs12119179) tightly linked to BD revealed an elevated frequency of the C genotype, consistent with a previous report that <jats:italic>IL23R<\/jats:italic> is a susceptibility locus for BD. Notably, four of these BD patients are members of familial BD; a whole-exome sequencing (WES) of these BD patients identified 19 novel single-nucleotide variations (SNVs) specific to these patients. They include heterozygous SNVs in the genes encoding IL-1 receptor-associated kinase 4 (<jats:italic>IRAK4<\/jats:italic>), nucleotide-binding oligomerization domain (NOD)-like receptor family pyrin domain-containing 14 (<jats:italic>NRP14<\/jats:italic>) and melanoma antigen-encoding gene E2 (<jats:italic>MAGEE2<\/jats:italic>); <jats:italic>IRAK4<\/jats:italic> harbors a missense mutation, whereas <jats:italic>NRP14<\/jats:italic> and <jats:italic>MAGEE2<\/jats:italic> harbor nonsense mutations. These SNVs may serve as genetic markers that characterize BD.<\/jats:p>","DOI":"10.1038\/srep19456","type":"journal-article","created":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T14:27:33Z","timestamp":1453300053000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Microarray and whole-exome sequencing analysis of familial Beh\u00e7et\u2019s disease patients"],"prefix":"10.1038","volume":"6","author":[{"given":"Daisuke","family":"Okuzaki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuyuki","family":"Yoshizaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toru","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kohshiro","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takanori","family":"Washio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Nojima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,1,20]]},"reference":[{"key":"BFsrep19456_CR1","first-page":"S112","volume":"32","author":"G Hatemi","year":"2014","unstructured":"Hatemi, G., Seyahi, E., Fresko, I., Talarico, R. & Hamuryudan, V. 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