{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T05:35:36Z","timestamp":1791178536802,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,6,14]],"date-time":"2013-06-14T00:00:00Z","timestamp":1371168000000},"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":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Human Ectrodactyly, Ectodermal dysplasia, Clefting (EEC) syndrome is an autosomal dominant developmental disorder defined by limb deformities, skin defects, and craniofacial clefting. Although associated with heterozygous missense mutations in <jats:italic>TP63<\/jats:italic>, the genetic basis underlying the variable expressivity and incomplete penetrance of EEC is unknown. Here, we show that mice heterozygous for an allele encoding the Trp63 p.Arg318His mutation, which corresponds to the human TP63 p.Arg279His mutation found in patients with EEC, have features of human EEC. Using an allelic series, we discovered that whereas clefting and skin defects are caused by loss of Trp63 function, limb anomalies are due to gain\u2010 and\/or dominant\u2010negative effects of Trp63. Furthermore, we identify TAp63 as a strong modifier of EEC\u2010associated phenotypes with regard to both penetrance and expressivity. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36074","type":"journal-article","created":{"date-parts":[[2013,6,14]],"date-time":"2013-06-14T18:41:19Z","timestamp":1371235279000},"page":"1961-1971","source":"Crossref","is-referenced-by-count":20,"title":["An allelic series of <i>Trp63<\/i> mutations defines TAp63 as a modifier of EEC syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Emma","family":"Vernersson Lindahl","sequence":"first","affiliation":[{"name":"Cold Spring Harbor Laboratory Cold Spring Harbor New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvin L.","family":"Garcia","sequence":"additional","affiliation":[{"name":"Cold Spring Harbor Laboratory Cold Spring Harbor New York"},{"name":"Graduate Program in Genetics, Stony Brook University Stony Brook New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alea A.","family":"Mills","sequence":"additional","affiliation":[{"name":"Cold Spring Harbor Laboratory Cold Spring Harbor New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.559"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.079327"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.067082"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.9.716"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.20.9363"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.165"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0560-2"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1988"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2008.82"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.091100298"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/19531"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/gene.10067"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI40267"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00287.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201640"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00003"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.071191"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2009.04.003"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05337"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.06.030"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI40266"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80275-0"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/19539"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.14.6154-6164.2005"}],"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.36074","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36074","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:01:12Z","timestamp":1696633272000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36074"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,14]]},"references-count":25,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["10.1002\/ajmg.a.36074"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36074","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,14]]}}}