{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T19:58:54Z","timestamp":1762113534796},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,7,1]],"date-time":"2015-07-01T00:00:00Z","timestamp":1435708800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2016,2]]},"abstract":"Abstract<\/jats:title>Some familial cases of pityriasis rubra pilaris (PRP<\/jats:styled-content>) have the CARD<\/jats:styled-content>14<\/jats:italic> gene mutations that are also detected in familial psoriasis vulgaris. However, genotype\u2013phenotype correlation in these two entities is poorly understood. Here, we report a case of PRP<\/jats:styled-content> with a new mutation in CARD<\/jats:styled-content>14<\/jats:italic>. Genomic analysis of a 40\u2010year\u2010old female patient with sporadic PRP<\/jats:styled-content> type V identified a heterozygous dominant c.412G>A mutation (p.Glu138Lys) in CARD<\/jats:styled-content>14<\/jats:italic>. Two types of CARD<\/jats:styled-content>14<\/jats:italic> mutations causing Glu138 substitutions have been reported in cases of familial PRP<\/jats:styled-content> and pustular psoriasis. All three types, including the present case, are predicted to cause similar loss of the negative charges at this site. This suggests that the difference in molecular charge and the resulting change in molecular interaction around the N\u2010terminal end of the coiled\u2010coil region of CARD<\/jats:styled-content>14<\/jats:italic> molecule do not determine the phenotypic differences between psoriasis and PRP<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/1346-8138.13008","type":"journal-article","created":{"date-parts":[[2015,7,1]],"date-time":"2015-07-01T06:30:52Z","timestamp":1435732252000},"page":"187-189","source":"Crossref","is-referenced-by-count":16,"title":["CARD<\/scp>14<\/i> Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis"],"prefix":"10.1111","volume":"43","author":[{"given":"Nana","family":"Inoue","sequence":"first","affiliation":[{"name":"Department of Dermatology Kyoto University Graduate School of Medicine Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teruki","family":"Dainichi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kyoto University Graduate School of Medicine Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Fujisawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kyoto University Graduate School of Medicine Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajime","family":"Nakano","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Sawamura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine Hirosaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Kabashima","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kyoto University Graduate School of Medicine Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.1980.tb01676.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.010"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M010512200"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.03.013"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12952"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12799"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.03.012"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.9.22.2736"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.16.5.2341"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2007.05.024"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1402608"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.13008","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.13008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T09:14:20Z","timestamp":1695546860000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.13008"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["10.1111\/1346-8138.13008"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.13008","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7]]}}}