{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T04:57:08Z","timestamp":1788238628403,"version":"build-2803163510"},"reference-count":50,"publisher":"American Society for Clinical Investigation","issue":"4","license":[{"start":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T00:00:00Z","timestamp":1707955200000},"content-version":"vor","delay-in-days":58,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000052","name":"NIH Office of the Director","doi-asserted-by":"crossref","award":["R01DK118134,R01DK121178,R01EY033360,R01EY033709,R21AG063377"],"award-info":[{"award-number":["R01DK118134,R01DK121178,R01EY033360,R01EY033709,R21AG063377"]}],"id":[{"id":"10.13039\/100000052","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"crossref","award":["Progetti di Ricera Corrente"],"award-info":[{"award-number":["Progetti di Ricera Corrente"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,15]]},"DOI":"10.1172\/jci174138","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T17:00:48Z","timestamp":1703005248000},"source":"Crossref","is-referenced-by-count":11,"title":["KCTD1\/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis"],"prefix":"10.1172","volume":"134","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-2725-0715","authenticated-orcid":false,"given":"Jackelyn R.","family":"Raymundo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Smaldone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjuan","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen E.","family":"Daly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin J.","family":"Glennon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Pecoraro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Salvatore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Devine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4314-3434","authenticated-orcid":false,"given":"Cecilia W.","family":"Lo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Vitagliano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander G.","family":"Marneros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","published-online":{"date-parts":[[2023,12,19]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2016.08.046"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(86)70082-0"},{"key":"B3","article-title":"Case of congenital ulcer on the cranium of a fetus","volume":"2","author":"Campbell","year":"1826","journal-title":"Edin J Med Sci"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.413"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80346-6"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1935.01460240080007"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.002"},{"key":"B8","unstructured":"Miller KA, et al. A dominant-negative mutation in the BTB domain of KCTD15 in a family with frontal lipoma, congenital heart disease and cutis aplasia of the scalp defines a novel syndrome. Paper presented at: 50th European Society of Human Genetics Conference; May 27\u201330, 2017; Copenhagen, Denmark. https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6777611\/ Accessed December 19, 2023"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2015.08.019"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2022.2144900"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2020.05.026"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2020.11457"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-46911-4"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.22002"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1300203110"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1002\/dvg.23034"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1126\/science.aas9536"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.15252\/embj.2021108780"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.15252\/embr.202152389"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1414-x"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2019.06.092"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-05526-y"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2011.05.583"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2014.01.019"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2020.107871"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2019.10.005"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2020.108616"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1242\/dev.188706"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-04989-3"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2020.07.015"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.11.025"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1089\/wound.2014.0540"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2013.05.017"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2018.12.012"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.3390\/jcdd7030027"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(01)00579-2"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2003.10.039"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.1038\/nature10163"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2008.05.020"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2013.04.026"},{"key":"B41","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2002.0597"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1242\/dev.157438"},{"key":"B43","doi-asserted-by":"publisher","DOI":"10.1002\/bdrc.20023"},{"key":"B44","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu170"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts635"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt214"},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-014-0550-8"},{"key":"B48","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2023.07.015"},{"key":"B49","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003573"},{"key":"B50","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-18512-7"}],"container-title":["Journal of Clinical Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jci.org\/articles\/view\/174138\/files\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T19:01:44Z","timestamp":1707937304000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jci.org\/articles\/view\/174138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,19]]},"references-count":50,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,12,19]]},"published-print":{"date-parts":[[2024,2,15]]}},"alternative-id":["10.1172\/JCI174138"],"URL":"https:\/\/doi.org\/10.1172\/jci174138","relation":{},"ISSN":["1558-8238"],"issn-type":[{"value":"1558-8238","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,19]]},"article-number":"e174138"}}