{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:07:05Z","timestamp":1747184825275,"version":"3.40.5"},"reference-count":55,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,10,25]],"date-time":"2021-10-25T00:00:00Z","timestamp":1635120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["P30 CA016672 DHHS"],"award-info":[{"award-number":["P30 CA016672 DHHS"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003339","name":"Consejo Superior de Investigaciones Cient\u00edficas","doi-asserted-by":"publisher","award":["BIO2015\u201070978\u2010R"],"award-info":[{"award-number":["BIO2015\u201070978\u2010R"]}],"id":[{"id":"10.13039\/501100003339","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["RTI2018\u2010101223\u2010B\u2010I00"],"award-info":[{"award-number":["RTI2018\u2010101223\u2010B\u2010I00"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Loss of function mutations in <jats:italic>HOXC13<\/jats:italic> have been associated with Ectodermal Dysplasia\u20109, Hair\/Nail Type (ECTD9) in consanguineous families, characterized by sparse to complete absence of hair and nail dystrophy. Here we characterize the spontaneous mouse mutation <jats:italic>Naked<\/jats:italic> (<jats:italic>N<\/jats:italic>) as a terminal truncation in the <jats:italic>Hoxc13<\/jats:italic> (homeobox C13) gene. Similar to previous reports for homozygous <jats:italic>Hoxc13<\/jats:italic>\u00a0knock\u2010out (KO) mice, homozygous <jats:italic>N<\/jats:italic>\/<jats:italic>N<\/jats:italic> mice exhibit generalized alopecia with abnormal nails and a short lifespan. However, in contrast to <jats:italic>Hoxc13<\/jats:italic>\u00a0heterozygous KO mice, <jats:italic>N<\/jats:italic>\/+ mice show generalized or partial alopecia, associated with loss of hair fibres, along with normal lifespan and fertility. Our data point to a lack of nonsense\u2010mediated <jats:italic>Hoxc13<\/jats:italic> transcript decay and the presence of the truncated mutant protein in <jats:italic>N<\/jats:italic>\/<jats:italic>N<\/jats:italic> and <jats:italic>N<\/jats:italic>\/+ hair follicles, thus suggesting a dominant\u2010negative mutation. To our knowledge, this is the first report of a semi\u2010dominant and potentially dominant\u2010negative mutation affecting <jats:italic>Hoxc13<\/jats:italic>\/<jats:italic>HOXC13<\/jats:italic>. Furthermore, recreating the <jats:italic>N<\/jats:italic> mutant allele in mice using CRISPR\/Cas9\u2010mediated genome editing resulted in the same spectrum of deficiencies as those associated with the spontaneous <jats:italic>Naked<\/jats:italic> mutation, thus confirming that <jats:italic>N<\/jats:italic> is indeed a <jats:italic>Hoxc13<\/jats:italic>\u00a0mutant allele. Considering the low viability of the <jats:italic>Hoxc13<\/jats:italic>\u00a0KO mice, the <jats:italic>Naked<\/jats:italic> mutation provides an attractive new model for studying ECTD9 disease mechanisms.<\/jats:p>","DOI":"10.1111\/exd.14469","type":"journal-article","created":{"date-parts":[[2021,10,17]],"date-time":"2021-10-17T23:19:21Z","timestamp":1634512761000},"page":"330-340","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Naked (N) mutant mice carry a nonsense mutation in the homeobox of <i>Hoxc13<\/i>"],"prefix":"10.1111","volume":"31","author":[{"given":"Carlos J.","family":"Perez","sequence":"first","affiliation":[{"name":"Department of Epigenetics and Molecular Carcinogenesis The University of Texas MD Anderson Cancer Center Smithville Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"Mecklenburg","sequence":"additional","affiliation":[{"name":"Mecklenburg\u2010Consulting Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Almudena","family":"Fernandez","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biology National Centre for Biotechnology (CNB\u2010CSIC) Madrid Spain"},{"name":"CIBERER\u2010ISCIII Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Cantero","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biology National Centre for Biotechnology (CNB\u2010CSIC) Madrid Spain"},{"name":"CIBERER\u2010ISCIII Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiago Antonio","family":"de Souza","sequence":"additional","affiliation":[{"name":"Institute of Biomedical Sciences University of S\u00e3o Paulo S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Epigenetics and Molecular Carcinogenesis The University of Texas MD Anderson Cancer Center Smithville Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon Y. R.","family":"Dent","sequence":"additional","affiliation":[{"name":"Department of Epigenetics and Molecular Carcinogenesis The University of Texas MD Anderson Cancer Center Smithville Texas USA"},{"name":"The University of Texas Graduate School of Biomedical Sciences at Houston Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lluis","family":"Montoliu","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biology National Centre for Biotechnology (CNB\u2010CSIC) Madrid Spain"},{"name":"CIBERER\u2010ISCIII Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Awgulewitsch","sequence":"additional","affiliation":[{"name":"Department of Medicine and Department of Regenerative Medicine &amp; Cell Biology Medical University of South Carolina (MUSC) Charleston South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1275-4320","authenticated-orcid":false,"given":"Fernando","family":"Benavides","sequence":"additional","affiliation":[{"name":"Department of Epigenetics and Molecular Carcinogenesis The University of Texas MD Anderson Cancer Center Smithville Texas USA"},{"name":"The University of Texas Graduate School of Biomedical Sciences at Houston Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,10,25]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00114-003-0417-4"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jidsp.5640235"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-3164.2008.00709.x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.b.22504"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2018.09.012"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2018.07.016"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.12.1.11"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-015-2312-7"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M101616200"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(02)00022-9"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.391"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M603646200"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00403-005-0623-3"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jidsp.5640221"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.9.1547"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1087-0024.2005.10114.x"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexmp.2015.08.016"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1006\/exmp.2001.2386"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.23442.x"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.029"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22271"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13074"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0402-y"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/cas.13453"},{"issue":"9","key":"e_1_2_9_26_1","first-page":"1820","article-title":"HOXC13 promotes proliferation of lung adenocarcinoma via modulation of CCND1 and CCNE1","volume":"7","author":"Yao Y","year":"2017","journal-title":"Am J Cancer Res"},{"key":"e_1_2_9_27_1","first-page":"748","article-title":"Atrichosis und ihre Vererbung beider albinotischen Hausmaus","volume":"47","author":"Lebedinsky N","year":"1927","journal-title":"Biol Zentralbl"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1017\/S001667230001034X"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw407"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-0716-0255-3_9"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpmo.69"},{"issue":"1","key":"e_1_2_9_32_1","first-page":"11","article-title":"Mouse genome editing using the CRISPR\/Cas system","volume":"83","author":"Harms DW","year":"2014","journal-title":"Curr Protoc Hum Genet"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2015.314"},{"issue":"12","key":"e_1_2_9_34_1","first-page":"3395","article-title":"Deficiency of either cyclooxygenase (COX)\u20101 or COX\u20102 alters epidermal differentiation and reduces mouse skin tumorigenesis","volume":"62","author":"Tiano HF","year":"2002","journal-title":"Cancer Res"},{"volume-title":"Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools","year":"1994","author":"Sundberg J","key":"e_1_2_9_35_1"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.1995.50"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.22.13042"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00740.x"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00418-008-0435-6"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01377.x"},{"volume-title":"Manipulating the Mouse Embryo\u2010A Laboratory Manual","year":"2014","author":"Behringer R","key":"e_1_2_9_41_1"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2744(199709)20:1<19::AID-MC4>3.0.CO;2-D"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2011078117"},{"issue":"1","key":"e_1_2_9_44_1","first-page":"184","article-title":"Generation of Hoxc13 knockout pigs recapitulates human ectodermal dysplasia\u20109","volume":"26","author":"Han K","year":"2017","journal-title":"Hum Mol Genet"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.201800928RR"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12302"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.09.024"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki562"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.6.732"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0070-2153(09)88003-4"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.10.004"},{"key":"e_1_2_9_52_1","first-page":"25","volume-title":"Guidebook to the Homeobox Genes","author":"B\u00fcrglin TR","year":"1994"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.109785"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.2.1065"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki761"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1038\/379162a0"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.14469","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/exd.14469","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.14469","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T15:53:56Z","timestamp":1693151636000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.14469"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,25]]},"references-count":55,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1111\/exd.14469"],"URL":"https:\/\/doi.org\/10.1111\/exd.14469","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"type":"print","value":"0906-6705"},{"type":"electronic","value":"1600-0625"}],"subject":[],"published":{"date-parts":[[2021,10,25]]},"assertion":[{"value":"2021-01-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}