{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T20:19:53Z","timestamp":1787861993262,"version":"build-2784847793"},"reference-count":13,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,11,12]],"date-time":"2014-11-12T00:00:00Z","timestamp":1415750400000},"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","award":["26670529"],"award-info":[{"award-number":["26670529"]}],"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":[[2014,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gap junction proteins are composed of 21 genes of the connexin (Cx) family. They play important roles in cell\u2013cell contact by exchange of small molecules through hemichannels. Hence, mutations of Cx family genes affect various tissues of a body. The mutation of the <jats:italic><jats:styled-content style=\"fixed-case\">GJA<\/jats:styled-content>1<\/jats:italic> gene, which codes Cx43, causes oculodentodigital dysplasia (<jats:styled-content style=\"fixed-case\">ODDD<\/jats:styled-content>), commonly in an autosomal dominant manner with phenotypic variability. It has been believed that gene mutations causing truncation of the Cx43 C\u2010terminus is necessary and sufficient for palmoplantar keratosis (<jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content>) development in <jats:styled-content style=\"fixed-case\">ODDD<\/jats:styled-content> patients. Here, we report a case of an <jats:styled-content style=\"fixed-case\">ODDD<\/jats:styled-content> patient developing <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content> with a <jats:italic><jats:styled-content style=\"fixed-case\">GJA<\/jats:styled-content>1<\/jats:italic> gene mutation (c.412G&gt;A\/p.Gly138Ser), which was previously reported in a case of <jats:styled-content style=\"fixed-case\">ODDD<\/jats:styled-content> without <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content> and expected not to result in C\u2010terminal truncation of Cx43. This case suggests not only C\u2010terminal truncation, but also that a point mutation in the cytoplasmic region of Cx43 can cause <jats:styled-content style=\"fixed-case\">PPK<\/jats:styled-content> in <jats:styled-content style=\"fixed-case\">ODDD<\/jats:styled-content> patients.<\/jats:p>","DOI":"10.1111\/1346-8138.12682","type":"journal-article","created":{"date-parts":[[2014,11,12]],"date-time":"2014-11-12T05:28:07Z","timestamp":1415770087000},"page":"1095-1097","source":"Crossref","is-referenced-by-count":18,"title":["Palmoplantar keratosis in oculodentodigital dysplasia with a <i><scp>GJA<\/scp>1<\/i> point mutation out of the C\u2010terminal region of connexin 43"],"prefix":"10.1111","volume":"41","author":[{"given":"Toshiaki","family":"Kogame","sequence":"first","affiliation":[{"name":"Department of Dermatology Graduate School of Medicine Kyoto University Kyoto Japan"},{"name":"Department of Dermatology Kansai Medical University Hirakata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teruki","family":"Dainichi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Graduate School of Medicine Kyoto University Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Shimomura","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Skin Diseases Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miki","family":"Tanioka","sequence":"additional","affiliation":[{"name":"Department of Dermatology Graduate School of Medicine Kyoto University Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Kabashima","sequence":"additional","affiliation":[{"name":"Department of Dermatology Graduate School of Medicine Kyoto University Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiki","family":"Miyachi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Graduate School of Medicine Kyoto University Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1996.0001q.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2010.02378.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30412"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31558"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/346090"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20958"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.08.007"},{"key":"e_1_2_6_9_1","first-page":"241","article-title":"A novel GJA 1 mutation in oculo\u2010dento\u2010digital dysplasia with curly hair and hyperkeratosis","volume":"16","author":"Kelly SC","year":"2006","journal-title":"Eur J Dermatol"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2014.01.049"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.142497"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12902"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2013.11.015"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2934"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.12682","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.12682","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T17:09:09Z","timestamp":1695575349000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.12682"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,12]]},"references-count":13,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1111\/1346-8138.12682"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.12682","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,12]]}}}