{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:05:57Z","timestamp":1762506357049},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,6,9]],"date-time":"2014-06-09T00:00:00Z","timestamp":1402272000000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tricho\u2010rhino\u2010phalangeal syndrome (<jats:styled-content style=\"fixed-case\">TRPS<\/jats:styled-content>) is an autosomal\u2010dominant disease characterized by sparse and slow\u2010growing scalp hair and craniofacial and skeletal abnormalities. We report here the case of two girls and their father who had <jats:styled-content style=\"fixed-case\">TRPS<\/jats:styled-content> type 1 and received a diagnosis of a new mutation of <jats:italic><jats:styled-content style=\"fixed-case\">TRPS<\/jats:styled-content>1<\/jats:italic> based on their clinical symptoms. Moreover, histological studies on skin samples obtained from one of the patients showed enhanced signal transducers and activator of transcription (<jats:styled-content style=\"fixed-case\">STAT<\/jats:styled-content>) 3 expression in the outer root sheath. However, <jats:styled-content style=\"fixed-case\">TRPS<\/jats:styled-content>1 protein expression was not reduced in the patient's follicles. These findings indicate that truncated <jats:styled-content style=\"fixed-case\">TRPS<\/jats:styled-content>1 protein from the mutant allele may be stably expressed in the patient's follicles and that enhanced <jats:styled-content style=\"fixed-case\">STAT<\/jats:styled-content>3 expression may be involved in the development of sparse and thin scalp hair in <jats:styled-content style=\"fixed-case\">TRPS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/1346-8138.12511","type":"journal-article","created":{"date-parts":[[2014,6,9]],"date-time":"2014-06-09T11:08:27Z","timestamp":1402312107000},"page":"514-517","source":"Crossref","is-referenced-by-count":6,"title":["A novel <i><scp>TRPS<\/scp>1<\/i> mutation in a family with tricho\u2010rhino\u2010phalangeal syndrome type 1"],"prefix":"10.1111","volume":"41","author":[{"given":"Tomomi","family":"Fujisawa","sequence":"first","affiliation":[{"name":"Department of Dermatology Gifu University Graduate School of Medicine Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Fukao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gifu University Graduate School of Medicine Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariko","family":"Seishima","sequence":"additional","affiliation":[{"name":"Department of Dermatology Gifu University Graduate School of Medicine Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,6,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/316926"},{"key":"e_1_2_8_3_1","first-page":"475","article-title":"Tricho\u2010rhino\u2010phalangeal syndrome","volume":"21","author":"Giedion A","year":"1996","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190110"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240420"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190414"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20104632.2012.05694.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/71717"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.10.001"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn125"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12111"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.12511","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.12511","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T23:38:35Z","timestamp":1695512315000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.12511"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["10.1111\/1346-8138.12511"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.12511","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6]]}}}