{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T11:29:15Z","timestamp":1791890955055,"version":"4.3.4"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,12]],"date-time":"2003-06-12T00:00:00Z","timestamp":1055376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"DGCYT","award":["SAF2000-0148"],"award-info":[{"award-number":["SAF2000-0148"]}]},{"name":"DGCYT","award":["BIO2000-0453-P4-02"],"award-info":[{"award-number":["BIO2000-0453-P4-02"]}]},{"DOI":"10.13039\/501100014180","name":"Junta de Castilla y Le\u00f3n","doi-asserted-by":"crossref","award":["CSI1\/02"],"award-info":[{"award-number":["CSI1\/02"]}],"id":[{"id":"10.13039\/501100014180","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100014180","name":"Junta de Castilla y Le\u00f3n","doi-asserted-by":"crossref","award":["CSI06\/03"],"award-info":[{"award-number":["CSI06\/03"]}],"id":[{"id":"10.13039\/501100014180","id-type":"DOI","asserted-by":"crossref"}]},{"name":"FIS","award":["01\/0114"],"award-info":[{"award-number":["01\/0114"]}]},{"name":"FIS","award":["PI020138"],"award-info":[{"award-number":["PI020138"]}]},{"name":"FIS","award":["G03\/179"],"award-info":[{"award-number":["G03\/179"]}]},{"name":"FIS","award":["G03\/136"],"award-info":[{"award-number":["G03\/136"]}]},{"name":"NIH","award":["1 R01 CA79955-01"],"award-info":[{"award-number":["1 R01 CA79955-01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Slug is a zinc\u2010finger neural crest transcription factor, encoded by the <jats:italic>SLUG<\/jats:italic> gene, which is critical for development of hematopoietic stem cells, germ cells, and melanoblasts in the mouse. In mouse, heterozygous and homozygous slug mutations result in anemia, infertility, white forehead blaze, and depigmentation of the ventral body, tail, and feet. This phenotype is very similar to the heterozygous W (KIT)\u2010mutant mouse phenotype and to human piebaldism, which is characterized by a congenital depigmented patches and poliosis (white forelock). To investigate the possibility that some cases of human piebaldism might result from abnormalities of the human SLUG (<jats:italic>SNAI2<\/jats:italic>) gene, we carried out Southern blot analysis of the <jats:italic>SLUG<\/jats:italic> gene in 17 unrelated patients with piebaldism, who lack apparent KIT mutations. Three of these patients had evident heterozygous deletions of the <jats:italic>SLUG<\/jats:italic> gene encompassing the entire coding region. Real\u2010time PCR confirmed the deletion in all cases. Fluoresence in situ hybridization (FISH) of genomic SLUG probes to metaphase chromosomes independently confirmed the deletion in one of the cases. These findings indicate that some cases of human piebaldism result from mutation of the <jats:italic>SLUG<\/jats:italic> gene on chromosome 8, and provide further strong evidence for the role of SLUG in the development of human melanocytes. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20345","type":"journal-article","created":{"date-parts":[[2003,9,2]],"date-time":"2003-09-02T19:30:11Z","timestamp":1062531011000},"page":"125-132","source":"Crossref","is-referenced-by-count":117,"title":["Deletion of the SLUG (<i>SNAI2<\/i>) gene results in human piebaldism"],"prefix":"10.1002","volume":"122A","author":[{"given":"Manuel","family":"S\u00e1nchez\u2010Mart\u00edn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas","family":"P\u00e9rez\u2010Losada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arancha","family":"Rodr\u00edguez\u2010Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bel\u00e9n","family":"Gonz\u00e1lez\u2010S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce R.","family":"Korf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Kuster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Moss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Spritz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"S\u00e1nchez\u2010Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,6,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/335088a0"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5367"},{"key":"e_1_2_7_4_1","first-page":"58","article-title":"Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism","volume":"56","author":"Ezoe K","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(93)90015-A"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.24.13239"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90020-7"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.19.8696"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(00)00371-1"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80336-6"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0012-1606(98)80005-5"},{"key":"e_1_2_7_12_1","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1182\/blood.V100.4.1274.h81602001274_1274_1286","article-title":"The zinc\u2010finger transcription factor SLUG contributes to the function of the SCF\/c\u2010kit signaling pathway","volume":"100","author":"P\u00e9rez\u2010Losada J","year":"2002","journal-title":"Blood"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.25.3231"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.2144\/96212rr01"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1085-5629(97)80031-4"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1995.tb16951.x"}],"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.20345","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20345","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T16:54:45Z","timestamp":1697043285000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20345"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,12]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,10]]}},"alternative-id":["10.1002\/ajmg.a.20345"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20345","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,12]]}}}