{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T04:03:43Z","timestamp":1783483423618,"version":"3.55.0"},"reference-count":38,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T00:00:00Z","timestamp":1559347200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T00:00:00Z","timestamp":1559347200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of\u00a0Hunan Province","doi-asserted-by":"publisher","award":["2018JJ3573"],"award-info":[{"award-number":["2018JJ3573"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81770780"],"award-info":[{"award-number":["81770780"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31371187"],"award-info":[{"award-number":["31371187"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81728013"],"award-info":[{"award-number":["81728013"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2019,6]]},"DOI":"10.1016\/j.gene.2019.03.039","type":"journal-article","created":{"date-parts":[[2019,3,23]],"date-time":"2019-03-23T11:44:58Z","timestamp":1553341498000},"page":"99-106","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"special_numbering":"C","title":["Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome"],"prefix":"10.1016","volume":"702","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4152-3898","authenticated-orcid":false,"given":"Wenting","family":"Dai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiayu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaguang","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruizhi","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan-Na","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meichao","family":"Men","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia-Da","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2019.03.039_bb0005","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1002\/ajmg.a.32657","article-title":"Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation","volume":"149A","author":"Barnett","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2019.03.039_bb0010","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1242\/bio.20135249","article-title":"Olfactory ensheathing glia are required for embryonic olfactory axon targeting and the migration of gonadotropin-releasing hormone neurons","volume":"2","author":"Barraud","year":"2013","journal-title":"Biology Open"},{"key":"10.1016\/j.gene.2019.03.039_bb0015","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/nrendo.2009.177","article-title":"The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism","volume":"5","author":"Bianco","year":"2009","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.gene.2019.03.039_bb0020","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/nrendo.2015.112","article-title":"Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism\u2014pathogenesis, diagnosis and treatment","volume":"11","author":"Boehm","year":"2015","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.gene.2019.03.039_bb0025","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.2019.03.039_bb0030","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.ydbio.2009.09.007","article-title":"Sox10 promotes the survival of cochlear progenitors during the establishment of the organ of Corti","volume":"335","author":"Breuskin","year":"2009","journal-title":"Dev. Biol."},{"key":"10.1016\/j.gene.2019.03.039_bb0035","doi-asserted-by":"crossref","first-page":"1827","DOI":"10.1111\/j.1471-4159.2010.06897.x","article-title":"Glial but not neuronal development in the cochleo-vestibular ganglion requires Sox10","volume":"114","author":"Breuskin","year":"2010","journal-title":"J. Neurochem."},{"key":"10.1016\/j.gene.2019.03.039_bb0040","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1530\/EJE-10-0083","article-title":"Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships","volume":"162","author":"Brioude","year":"2010","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.gene.2019.03.039_bb0045","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1101\/gad.186601","article-title":"The transcription factor Sox10 is a key regulator of peripheral glial development","volume":"15","author":"Britsch","year":"2001","journal-title":"Genes Dev."},{"key":"10.1016\/j.gene.2019.03.039_bb0050","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.2019.03.039_bb0055","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.mcp.2010.10.003","article-title":"Genomic DNA extraction from whole blood stored from 15- to 30-years at -20 degrees C by rapid phenol-chloroform protocol: a useful tool for genetic epidemiology studies","volume":"25","author":"Di Pietro","year":"2011","journal-title":"Mol. Cell. Probes"},{"key":"10.1016\/j.gene.2019.03.039_bb0060","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1038\/ejhg.2008.206","article-title":"Kallmann syndrome","volume":"17","author":"Dode","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2019.03.039_bb0065","doi-asserted-by":"crossref","first-page":"4113","DOI":"10.1242\/dev.128.21.4113","article-title":"Zebrafish colourless encodes sox10 and specifies non-ectomesenchymal neural crest fates","volume":"128","author":"Dutton","year":"2001","journal-title":"Development"},{"key":"10.1016\/j.gene.2019.03.039_bb0070","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1159\/000330895","article-title":"The migration of olfactory ensheathing cells during development and regeneration","volume":"20","author":"Ekberg","year":"2012","journal-title":"Neuro-Signals"},{"key":"10.1016\/j.gene.2019.03.039_bb0075","first-page":"157","article-title":"Current genetic issues and phenotypic variants in Kallmann syndrome","volume":"50","author":"Gutierrez-Amavizca","year":"2012","journal-title":"Revista medica del Instituto Mexicano del Seguro Social"},{"key":"10.1016\/j.gene.2019.03.039_bb0080","doi-asserted-by":"crossref","first-page":"5161","DOI":"10.1073\/pnas.95.9.5161","article-title":"Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease","volume":"95","author":"Herbarth","year":"1998","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.gene.2019.03.039_bb0085","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.2019.03.039_bb0090","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.1002\/ajmg.a.32403","article-title":"SOX10 mutation in Waardenburg syndrome type II","volume":"146A","author":"Iso","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2019.03.039_bb0095","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1093\/hmg\/ddg107","article-title":"Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer","volume":"12","author":"Lang","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2019.03.039_bb0100","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.gene.2019.03.039_bb0105","first-page":"249","article-title":"Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory","volume":"22","author":"Mitchell","year":"2011","journal-title":"Trends Endocrinol Metab"},{"key":"10.1016\/j.gene.2019.03.039_bb0110","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.2019.03.039_bb0115","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.2019.03.039_bb0120","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng0298-171","article-title":"SOX10 mutations in patients with Waardenburg-Hirschsprung disease","volume":"18","author":"Pingault","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2019.03.039_bb0125","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.2019.03.039_bb0130","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/j.ajhg.2013.03.024","article-title":"Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness","volume":"92","author":"Pingault","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2019.03.039_bb0135","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1111\/cge.12506","article-title":"SOX10 mutations mimic isolated hearing loss","volume":"88","author":"Pingault","year":"2015","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2019.03.039_bb0140","doi-asserted-by":"crossref","first-page":"4128","DOI":"10.1210\/jc.2002-020518","article-title":"Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism","volume":"87","author":"Pitteloud","year":"2002","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.gene.2019.03.039_bb0145","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1046\/j.1365-2265.2001.01277.x","article-title":"Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization","volume":"55","author":"Quinton","year":"2001","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.gene.2019.03.039_bb0150","doi-asserted-by":"crossref","first-page":"5826","DOI":"10.1128\/MCB.22.16.5826-5834.2002","article-title":"Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation","volume":"22","author":"Rehberg","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.gene.2019.03.039_bb0155","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1210\/jcem-41-6-1035","article-title":"FSH responses to the repetitive administration of gonadotropin-releasing hormone in patients with idiopathic hypogonadotropic hypogonadism","volume":"41","author":"Reitano","year":"1975","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.gene.2019.03.039_bb0160","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1007\/s00109-010-0592-7","article-title":"Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient","volume":"88","author":"Sanchez-Mejias","year":"2010","journal-title":"J. Mol. Med."},{"key":"10.1016\/j.gene.2019.03.039_bb0165","first-page":"521","article-title":"Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations","volume":"19","author":"Seminara","year":"1998","journal-title":"Endocr. Rev."},{"key":"10.1016\/j.gene.2019.03.039_bb0170","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.2019.03.039_bb0175","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1159\/000436965","article-title":"Loss-of-function SOX10 mutation in a patient with Kallmann syndrome, hearing loss, and iris hypopigmentation","volume":"84","author":"Suzuki","year":"2015","journal-title":"Hormone research in paediatrics"},{"key":"10.1016\/j.gene.2019.03.039_bb0180","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/pr.2014.60","article-title":"De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss","volume":"76","author":"Vaaralahti","year":"2014","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.gene.2019.03.039_bb0185","first-page":"248","article-title":"De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism","volume":"48","author":"Wang","year":"2018","journal-title":"Ann. Clin. Lab. Sci."},{"key":"10.1016\/j.gene.2019.03.039_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:S0378111919302963?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111919302963?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T16:26:36Z","timestamp":1777566396000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111919302963"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6]]},"references-count":38,"alternative-id":["S0378111919302963"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2019.03.039","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2019,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2019.03.039","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}