{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T18:30:35Z","timestamp":1791052235567,"version":"4.1.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"1","content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1016\/j.gene.2014.01.026","type":"journal-article","created":{"date-parts":[[2014,1,16]],"date-time":"2014-01-16T11:01:26Z","timestamp":1389870086000},"page":"36-41","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV"],"prefix":"10.1016","volume":"538","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8083-7913","authenticated-orcid":false,"given":"Hong-Han","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Sheng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Bo","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling-Yun","family":"Mei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chu-Feng","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing-Wei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Chao","family":"Men","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin-Bin","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2014.01.026_bb0005","doi-asserted-by":"crossref","first-page":"2407","DOI":"10.1093\/hmg\/4.12.2407","article-title":"Mutation of the endothelin-receptor B gene in Waardenburg\u2013Hirschsprung disease","volume":"4","author":"Attie","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0010","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1111\/j.1600-0749.2004.00147.x","article-title":"Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders","volume":"17","author":"Baxter","year":"2004","journal-title":"Pigment Cell Res."},{"key":"10.1016\/j.gene.2014.01.026_bb0020","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.1093\/hmg\/8.9.1785","article-title":"A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies","volume":"8","author":"Bondurand","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0025","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1093\/hmg\/9.13.1907","article-title":"Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome","volume":"9","author":"Bondurand","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0015","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1086\/522090","article-title":"Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4","volume":"81","author":"Bondurand","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0030","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1002\/humu.21583","article-title":"Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome","volume":"32","author":"Chaoui","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2014.01.026_bb0035","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.bbrc.2010.05.066","article-title":"Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome","volume":"397","author":"Chen","year":"2010","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2014.01.026_bb0040","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1038\/ng0496-442","article-title":"Mutation of the endothelin-3 gene in the Waardenburg\u2013Hirschsprung disease (Shah\u2013Waardenburg syndrome)","volume":"12","author":"Edery","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0045","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ng0496-445","article-title":"A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah\u2013Waardenburg syndrome)","volume":"12","author":"Hofstra","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0050","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/j.semcdb.2005.06.005","article-title":"Sox proteins and neural crest development","volume":"16","author":"Hong","year":"2005","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.gene.2014.01.026_bb0055","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/ng1322","article-title":"Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations","volume":"36","author":"Inoue","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0060","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1016\/j.bbrc.2011.04.072","article-title":"Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome","volume":"408","author":"Jiang","year":"2011","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2014.01.026_bb0065","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1128\/MCB.19.1.107","article-title":"Mechanism of regulatory target selection by the SOX high-mobility-group domain proteins as revealed by comparison of SOX1\/2\/3 and SOX9","volume":"19","author":"Kamachi","year":"1999","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.gene.2014.01.026_bb0070","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1002\/bies.20445","article-title":"Sorting out Sox10 functions in neural crest development","volume":"28","author":"Kelsh","year":"2006","journal-title":"Bioessays"},{"key":"10.1016\/j.gene.2014.01.026_bb0075","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0896-6273(03)00163-6","article-title":"SOX10 maintains multipotency and inhibits neuronal differentiation of neural crest stem cells","volume":"38","author":"Kim","year":"2003","journal-title":"Neuron"},{"key":"10.1016\/j.gene.2014.01.026_bb0080","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1523\/JNEUROSCI.18-01-00237.1998","article-title":"Sox10, a novel transcriptional modulator in glial cells","volume":"18","author":"Kuhlbrodt","year":"1998","journal-title":"J. Neurosci."},{"key":"10.1016\/j.gene.2014.01.026_bb0085","doi-asserted-by":"crossref","first-page":"37978","DOI":"10.1074\/jbc.M003816200","article-title":"Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg\u2013Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2","volume":"275","author":"Lee","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2014.01.026_bb0090","doi-asserted-by":"crossref","first-page":"1983","DOI":"10.1210\/mend.15.11.0734","article-title":"Adult tissue angiogenesis: evidence for negative regulation by estrogen in the uterus","volume":"15","author":"Ma","year":"2001","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.gene.2014.01.026_bb0095","doi-asserted-by":"crossref","first-page":"3024","DOI":"10.1038\/sj.onc.1206442","article-title":"The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia","volume":"22","author":"Mollaaghababa","year":"2003","journal-title":"Oncogene"},{"key":"10.1016\/j.gene.2014.01.026_bb0100","doi-asserted-by":"crossref","first-page":"3047","DOI":"10.1093\/nar\/28.16.3047","article-title":"The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences","volume":"28","author":"Peirano","year":"2000","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.gene.2014.01.026_bb0120","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1006\/geno.1996.4476","article-title":"Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease","volume":"39","author":"Pingault","year":"1997","journal-title":"Genomics"},{"key":"10.1016\/j.gene.2014.01.026_bb0105","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng0298-171","article-title":"SOX10 mutations in patients with Waardenburg\u2013Hirschsprung disease","volume":"18","author":"Pingault","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0110","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1136\/jmg.38.3.205","article-title":"A heterozygous endothelin 3 mutation in Waardenburg\u2013Hirschsprung disease: is there a dosage effect of EDN3\/EDNRB gene mutations on neurocristopathy phenotypes?","volume":"38","author":"Pingault","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0115","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/humu.21211","article-title":"Review and update of mutations causing Waardenburg syndrome","volume":"31","author":"Pingault","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2014.01.026_bb0125","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s004390000328","article-title":"Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3","volume":"107","author":"Potterf","year":"2000","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0130","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1006\/dbio.2001.0372","article-title":"Analysis of SOX10 function in neural crest-derived melanocyte development: SOX10-dependent transcriptional control of dopachrome tautomerase","volume":"237","author":"Potterf","year":"2001","journal-title":"Dev. Biol."},{"key":"10.1016\/j.gene.2014.01.026_bb0135","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1016\/0092-8674(94)90016-7","article-title":"A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease","volume":"79","author":"Puffenberger","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.gene.2014.01.026_bb0140","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1136\/jmg.34.8.656","article-title":"Waardenburg syndrome","volume":"34","author":"Read","year":"1997","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0145","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/S0022-3476(81)80339-3","article-title":"White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome","volume":"99","author":"Shah","year":"1981","journal-title":"J. Pediatr."},{"key":"10.1016\/j.gene.2014.01.026_bb0155","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/ng0198-60","article-title":"Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model","volume":"18","author":"Southard-Smith","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0150","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1101\/gr.9.3.215","article-title":"The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg\u2013Shah (WS4) syndrome","volume":"9","author":"Southard-Smith","year":"1999","journal-title":"Genome Res."},{"key":"10.1016\/j.gene.2014.01.026_bb0160","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.biocel.2009.07.014","article-title":"SoxE function in vertebrate nervous system development","volume":"42","author":"Stolt","year":"2010","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.gene.2014.01.026_bb0165","doi-asserted-by":"crossref","first-page":"27848","DOI":"10.1074\/jbc.272.44.27848","article-title":"Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9","volume":"272","author":"Sudbeck","year":"1997","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2014.01.026_bb0170","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1136\/jmg.32.7.531","article-title":"Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q","volume":"32","author":"Van Camp","year":"1995","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0175","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness","volume":"3","author":"Waardenburg","year":"1951","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2014.01.026_bb0180","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1093\/nar\/27.6.1409","article-title":"From head to toes: the multiple facets of Sox proteins","volume":"27","author":"Wegner","year":"1999","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.gene.2014.01.026_bb0185","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.biocel.2009.07.006","article-title":"All purpose Sox: the many roles of Sox proteins in gene expression","volume":"42","author":"Wegner","year":"2010","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.gene.2014.01.026_bb0190","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1007\/s00439-011-1098-2","article-title":"Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II","volume":"131","author":"Zhang","year":"2012","journal-title":"Hum. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811191400047X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811191400047X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,3,23]],"date-time":"2022-03-23T20:47:46Z","timestamp":1648068466000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S037811191400047X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["S037811191400047X"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2014.01.026","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2014,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2014.01.026","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}