{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T17:09:11Z","timestamp":1770743351300,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2011,11,8]],"date-time":"2011-11-08T00:00:00Z","timestamp":1320710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Heterozygous mutations in <jats:italic>TP63<\/jats:italic> cause a wide spectrum of autosomal dominant developmental disorders variably affecting skin, limbs, and face. <jats:italic>TP63<\/jats:italic> encodes p63, a protein expressed in two main isoforms (Tap63 and \u0394Np63) with critical roles in both cell differentiation and development. Some analyses suggest a relationship of the mutation site to the observed clinical picture, although this link is inconsistent. This suggests an appreciable phenotypic continuity within the <jats:italic>TP63<\/jats:italic>\u2010related disorders. We report a 3\u2010month\u2010old boy ascertained for congenital scalp erosion and mild features of ectodermal dysplasia. His mother showed full\u2010blown characteristics of Rapp\u2010Hodgkin syndrome plus intense abdominal and popliteal freckling. Molecular investigation identified the novel <jats:italic>TP63<\/jats:italic> mutation c.1697delG. We used a luciferase reporter assay to compare the effects on the p63 transactivation (TA) activity of c.1697delG with that of the p.Arg280Cys and p.Gln634X mutations, associated with ectrodactyly\u2010ectodermal dysplasia\u2010cleft lip\/palate syndrome and isolated split hand\/foot malformation, respectively. These results demonstrated complex behavior of c.1697delG in the TA of genes involved in epidermal differentiation and development and shed further light in the physiopathology of <jats:italic>TP63<\/jats:italic>\u2010related disorders. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34335","type":"journal-article","created":{"date-parts":[[2011,11,8]],"date-time":"2011-11-08T18:46:53Z","timestamp":1320778013000},"page":"3104-3109","source":"Crossref","is-referenced-by-count":23,"title":["Functional characterization of a novel <i>TP63<\/i> mutation in a family with overlapping features of Rapp\u2010Hodgkin\/AEC\/ADULT syndromes"],"prefix":"10.1002","volume":"155","author":[{"given":"Valeria","family":"Serra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Castori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Paradisi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Bui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerry","family":"Melino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Terrinoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,11,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200676"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32596"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.079327"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.03265"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cdd.4401926"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09859.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.24.8659-8668.2002"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910308200606"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cdd.4400624"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.221"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2003.10.004"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450525"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32793"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.24.8601-8611.2002"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/323123"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80275-0"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.12.115"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.34335","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34335","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.34335","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34335","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:13:48Z","timestamp":1697638428000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34335"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,8]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["10.1002\/ajmg.a.34335"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34335","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,8]]}}}