{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:18:11Z","timestamp":1787015891924,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T00:00:00Z","timestamp":1602115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>SASH1<\/jats:italic>\n                    has been reported as a causal gene of lentiginous phenotypes with and without heredity, including an autosomal dominant type characterized by lentigines predominantly on sun\u2010exposed areas such as the face and limbs. Recently, cases of dyschromatosis with\n                    <jats:italic>SASH1<\/jats:italic>\n                    mutations have been reported worldwide; however, only one case has been reported from Japan. Here, we analyzed six Japanese patients who characteristically showed many lentigines on sun\u2010exposed areas, using next\u2010generation sequencing. We identified five novel heterozygous mutations in\n                    <jats:italic>SASH1<\/jats:italic>\n                    (p.I586M, p.S531Y, p.R644W, p.T525R, and p.S516I) in our patients and their families. The p.R644W substitution identified in two unrelated families was the first mutation located in the sterile alpha motif 1 (SAM1) domain. The degree and location of the lentigines were variable across individuals, even if they shared the same\n                    <jats:italic>SASH1<\/jats:italic>\n                    mutation. All mutations were predicted to be deleterious by six different algorithms used to evaluate the functional impact of a variation. In addition, immunohistopathological findings and RNA sequencing results suggested that\n                    <jats:italic>SASH1<\/jats:italic>\n                    mutations were associated with an increase in the number of melanocytes, acceleration of melanogenesis, and upregulated hair keratin expression.\n                  <\/jats:p>","DOI":"10.1111\/pcmr.12930","type":"journal-article","created":{"date-parts":[[2020,9,27]],"date-time":"2020-09-27T13:25:28Z","timestamp":1601213128000},"page":"174-178","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Five novel mutations in\n                    <i>SASH1<\/i>\n                    contribute to lentiginous phenotypes in Japanese families"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3916-1525","authenticated-orcid":false,"given":"Yuta","family":"Araki","sequence":"first","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Yamagata University Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7366-3233","authenticated-orcid":false,"given":"Ken","family":"Okamura","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Yamagata University Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toru","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Yamagata University Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7391-5469","authenticated-orcid":false,"given":"Kazuhiko","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Dermatology Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3865-6366","authenticated-orcid":false,"given":"Ken","family":"Natsuga","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hokkaido University Graduate School of Medicine Sapporo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Nishimoto","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine University of Miyazaki Miyazaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Funasaka","sequence":"additional","affiliation":[{"name":"Department of Dermatology Nippon Medical School Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8472-3609","authenticated-orcid":false,"given":"Yaei","family":"Togawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Graduate School of Medicine Chiba University Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4669-9721","authenticated-orcid":false,"given":"Tamio","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine Yamagata University Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0736-8046.2004.21211.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.213"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.7150\/ijbs.38415"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts635"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-011-9446-x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11010-012-1491-8"},{"issue":"5","key":"e_1_2_5_8_1","first-page":"1213","article-title":"A case of multiple lentiginous with SASH1 mutation","volume":"128","author":"Mochimaru N.","year":"2018","journal-title":"The Japanese Journal of Dermatology"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/SLA.0b013e318272de87"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12800"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2089"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2015.292"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30036"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2575"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-1284-1"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1996.tb03639.x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206474"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12728"},{"issue":"4","key":"e_1_2_5_19_1","article-title":"Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria","volume":"85","author":"Zhong W. L.","year":"2019","journal-title":"Indian Journal of Dermatology Venereology & Leprology"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2012.12.025"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.13022"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12930","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pcmr.12930","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.12930","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T13:16:52Z","timestamp":1693660612000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.12930"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,8]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1111\/pcmr.12930"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.12930","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,8]]},"assertion":[{"value":"2020-07-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}