{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T06:34:23Z","timestamp":1773902063540,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,4]],"date-time":"2013-03-04T00:00:00Z","timestamp":1362355200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trichorhinophalangeal syndrome (<jats:styled-content style=\"fixed-case\">TRPS<\/jats:styled-content>) is an autosomal\u2010dominant congenital hair loss disease characterized by sparse and slow\u2010growing scalp hair, craniofacial and skeletal abnormalities, pear\u2010shaped nose, thin upper lip, brittle and thin toenails, and bilateral brachydactyly of the big toes. We report a case of <jats:styled-content style=\"fixed-case\">TRPS<\/jats:styled-content>1 exhibiting these clinical features with a novel heterozygous single nucleotide substitution in exon 3 of the <jats:styled-content style=\"fixed-case\">TRPS<\/jats:styled-content><jats:italic>1<\/jats:italic> gene. By immunohistochemical analysis of a biopsied specimen of the patient's alopecia lesion, we found for the first time that the expression level of <jats:styled-content style=\"fixed-case\">TRPS<\/jats:styled-content>1 was markedly reduced in the epidermis and the outer root sheath of hair follicles as compared to a normal subject. In addition, higher expression of phospho\u2010<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>tat3 was found consequent to the loss of <jats:styled-content style=\"fixed-case\">TRPS<\/jats:styled-content>1 in the outer root sheath.<\/jats:p>","DOI":"10.1111\/1346-8138.12111","type":"journal-article","created":{"date-parts":[[2013,3,5]],"date-time":"2013-03-05T03:34:55Z","timestamp":1362454495000},"page":"396-398","source":"Crossref","is-referenced-by-count":19,"title":["Trichorhinophalangeal syndrome with low expression of <scp>TRPS<\/scp>1 on epidermal and hair follicle epithelial cells"],"prefix":"10.1111","volume":"40","author":[{"given":"Taisuke","family":"Ito","sequence":"first","affiliation":[{"name":"Department of Dermatology Hamamatsu University School of Medicine Niigata 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":"Muhammad","family":"Farooq","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":"Noriko","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Japanese Red Cross Hamamatsu Hospital Hamamatsu"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun\u2010Ichi","family":"Sakabe","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hamamatsu University School of Medicine Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiki","family":"Tokura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hamamatsu University School of Medicine Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,3,4]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"249","article-title":"Autosomal\u2010dominant transmission of the tricho\u2010rhino\u2010phalangeal syndrome. 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