{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T13:05:45Z","timestamp":1791464745444,"version":"4.3.4"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"21","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,11,1]]},"DOI":"10.1093\/hmg\/ddt285","type":"journal-article","created":{"date-parts":[[2013,6,21]],"date-time":"2013-06-21T00:44:07Z","timestamp":1371775447000},"page":"4357-4367","source":"Crossref","is-referenced-by-count":65,"title":["MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function"],"prefix":"10.1093","volume":"22","author":[{"given":"Christine","family":"Grill","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krist\u00edn","family":"Bergsteinsd\u00f3ttir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margr\u00e9t H.","family":"\u00d6gmundsd\u00f3ttir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian","family":"Pogenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Schepsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Wilmanns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronique","family":"Pingault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eir\u00edkur","family":"Steingr\u00edmsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,6,20]]},"reference":[{"key":"key\n\t\t\t\t20170503072655_DDT285C1","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/j.1755-148X.2009.00653.x","article-title":"Fifteen-year quest for microphthalmia-associated transcription factor target genes","volume":"23","author":"Cheli","year":"2009","journal-title":"Pigment Cell Melanoma Res."},{"key":"key\n\t\t\t\t20170503072655_DDT285C2","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1038\/onc.2010.612","article-title":"Essential role of microphthalmia transcription factor for DNA replication, mitosis and genomic stability in melanoma","volume":"30","author":"Strub","year":"2011","journal-title":"Oncogene"},{"key":"key\n\t\t\t\t20170503072655_DDT285C3","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1146\/annurev.genet.38.072902.092717","article-title":"Melanocytes and the microphthalmia transcription factor network","volume":"38","author":"Steingrimsson","year":"2004","journal-title":"Annu. Rev. Genet."},{"key":"key\n\t\t\t\t20170503072655_DDT285C4","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1038\/ng0894-509","article-title":"A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1","volume":"7","author":"Hughes","year":"1994","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503072655_DDT285C5","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1093\/hmg\/4.11.2131","article-title":"The mutational spectrum in Waardenburg syndrome","volume":"4","author":"Tassabehji","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072655_DDT285C6","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":"key\n\t\t\t\t20170503072655_DDT285C7","first-page":"259","article-title":"A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance","volume":"15","author":"Tietz","year":"1963","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503072655_DDT285C8","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":"key\n\t\t\t\t20170503072655_DDT285C9","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":"key\n\t\t\t\t20170503072655_DDT285C10","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1136\/jmg.37.6.446","article-title":"Tietz syndrome (hypopigmentation\/deafness) caused by mutation of MITF","volume":"37","author":"Smith","year":"2000","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170503072655_DDT285C11","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1097\/MPH.0b013e3181d9da5d","article-title":"Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells","volume":"32","author":"Shigemura","year":"2010","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"key\n\t\t\t\t20170503072655_DDT285C12","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/ejhg.2011.234","article-title":"Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes","volume":"20","author":"Leger","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503072655_DDT285C13","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S0002-9440(10)65172-3","article-title":"Microphthalmia transcription factor. A sensitive and specific melanocyte marker for MelanomaDiagnosis","volume":"155","author":"King","year":"1999","journal-title":"Am. J. Pathol."},{"key":"key\n\t\t\t\t20170503072655_DDT285C14","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1097\/00000478-200101000-00005","article-title":"Microphthalmia transcription factor expression in cutaneous benign, malignant melanocytic, and nonmelanocytic tumors","volume":"25","author":"King","year":"2001","journal-title":"Am. J. Surg. Pathol."},{"key":"key\n\t\t\t\t20170503072655_DDT285C15","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/nature03664","article-title":"Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma","volume":"436","author":"Garraway","year":"2005","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170503072655_DDT285C16","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1111\/j.1755-148X.2009.00578.x","article-title":"Frequent mutations in the MITF pathway in melanoma","volume":"22","author":"Cronin","year":"2009","journal-title":"Pigment Cell Melanoma Res."},{"key":"key\n\t\t\t\t20170503072655_DDT285C17","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/nature10539","article-title":"A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma","volume":"480","author":"Bertolotto","year":"2011","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170503072655_DDT285C18","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/nature10630","article-title":"A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma","volume":"480","author":"Yokoyama","year":"2011","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170503072655_DDT285C19","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1038\/nrc1947","article-title":"Lineage dependency and lineage-survival oncogenes in human cancer","volume":"6","author":"Garraway","year":"2006","journal-title":"Nat. Rev. Cancer"},{"key":"key\n\t\t\t\t20170503072655_DDT285C20","doi-asserted-by":"crossref","first-page":"2647","DOI":"10.1101\/gad.198192.112","article-title":"Restricted leucine zipper dimerization and specificity of DNA recognition of the melanocyte master regulator MITF","volume":"26","author":"Pogenberg","year":"2012","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170503072655_DDT285C21","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/ejhg.2011.234","article-title":"Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes","volume":"20","author":"Leger","year":"2012","journal-title":"Eur. J. Hum. Genet"},{"key":"key\n\t\t\t\t20170503072655_DDT285C22","doi-asserted-by":"crossref","first-page":"7996","DOI":"10.1128\/MCB.14.12.7996","article-title":"Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator","volume":"14","author":"Bentley","year":"1994","journal-title":"Mol. Cell Biol."},{"key":"key\n\t\t\t\t20170503072655_DDT285C23","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/j.1600-0749.2005.00234.x","article-title":"Sumoylation modulates transcriptional activity of MITF in a promoter-specific manner","volume":"18","author":"Murakami","year":"2005","journal-title":"Pigment Cell Res."},{"key":"key\n\t\t\t\t20170503072655_DDT285C24","doi-asserted-by":"crossref","first-page":"3653","DOI":"10.1128\/MCB.12.8.3653","article-title":"Positive and negative elements regulate a melanocyte-specific promoter","volume":"12","author":"Lowings","year":"1992","journal-title":"Mol. Cell Biol."},{"key":"key\n\t\t\t\t20170503072655_DDT285C25","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1126\/science.1846706","article-title":"Identification of the hepatocyte growth factor receptor as the c-met proto-oncogene product","volume":"251","author":"Bottaro","year":"1991","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503072655_DDT285C26","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/ng0597-68","article-title":"Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas","volume":"16","author":"Schmidt","year":"1997","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503072655_DDT285C27","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1038\/bjc.1993.422","article-title":"Expression of the c-Met\/HGF receptor in human melanocytic neoplasms: demonstration of the relationship to malignant melanoma tumour progression","volume":"68","author":"Natali","year":"1993","journal-title":"Br. J. Cancer"},{"key":"key\n\t\t\t\t20170503072655_DDT285C28","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1038\/onc.2010.612","article-title":"Essential role of microphthalmia transcription factor for DNA replication, mitosis and genomic stability in melanoma","volume":"30","author":"Strub","year":"2011","journal-title":"Oncogene"},{"key":"key\n\t\t\t\t20170503072655_DDT285C29","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1242\/dev.014142","article-title":"Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITF","volume":"135","author":"Bharti","year":"2008","journal-title":"Development"},{"key":"key\n\t\t\t\t20170503072655_DDT285C30","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1128\/MCB.16.3.1203","article-title":"The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential","volume":"16","author":"Takebayashi","year":"1996","journal-title":"Mol. Cell Biol."},{"key":"key\n\t\t\t\t20170503072655_DDT285C31","doi-asserted-by":"crossref","first-page":"4126","DOI":"10.1016\/j.febslet.2012.10.006","article-title":"Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2","volume":"586","author":"Zhang","year":"2012","journal-title":"FEBS Lett"},{"key":"key\n\t\t\t\t20170503072655_DDT285C32","doi-asserted-by":"crossref","first-page":"e1002653","DOI":"10.1371\/journal.pgen.1002653","article-title":"Mutations in MITF and PAX3 cause \u2018splashed white\u2019 and other white spotting phenotypes in horses","volume":"8","author":"Hauswirth","year":"2012","journal-title":"PLoS Genet."},{"key":"key\n\t\t\t\t20170503072655_DDT285C33","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1093\/hmg\/9.1.125","article-title":"Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance","volume":"9","author":"Takeda","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072655_DDT285C34","doi-asserted-by":"crossref","first-page":"6061","DOI":"10.1016\/S0021-9258(19)39291-9","article-title":"Ordered multisite protein phosphorylation. Analysis of glycogen synthase kinase 3 action using model peptide substrates","volume":"265","author":"Fiol","year":"1990","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170503072655_DDT285C35","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1021\/bi00167a018","article-title":"Isoform differences in substrate recognition by glycogen synthase kinases 3 alpha and 3 beta in the phosphorylation of phosphatase inhibitor 2","volume":"33","author":"Wang","year":"1994","journal-title":"Biochemistry"},{"key":"key\n\t\t\t\t20170503072655_DDT285C36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/bj3590001","article-title":"GSK3 takes centre stage more than 20 years after its discovery","volume":"359","author":"Frame","year":"2001","journal-title":"Biochem. J."},{"key":"key\n\t\t\t\t20170503072655_DDT285C37","doi-asserted-by":"crossref","first-page":"3083","DOI":"10.1038\/sj.onc.1201298","article-title":"CBP\/p300 as a co-factor for the microphthalmia transcription factor","volume":"14","author":"Sato","year":"1997","journal-title":"Oncogene"},{"key":"key\n\t\t\t\t20170503072655_DDT285C38","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1046\/j.1600-0749.2003.00108.x","article-title":"A dominant negative mutant of microphthalmia transcription factor (MITF) lacking two transactivation domains suppresses transcription mediated by wild type MITF and a hyperactive MITF derivative","volume":"17","author":"Vachtenheim","year":"2004","journal-title":"Pigment Cell Res."},{"key":"key\n\t\t\t\t20170503072655_DDT285C39","doi-asserted-by":"crossref","first-page":"14140","DOI":"10.1074\/jbc.M611563200","article-title":"Up-regulation of MET expression by alpha-melanocyte-stimulating hormone and MITF allows hepatocyte growth factor to protect melanocytes and melanoma cells from apoptosis","volume":"282","author":"Beuret","year":"2007","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170503072655_DDT285C40","first-page":"76","article-title":"Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A","volume":"59","author":"Nobukuni","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503072655_DDT285C41","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":"key\n\t\t\t\t20170503072655_DDT285C42","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1002\/(SICI)1096-8628(19981204)80:4<406::AID-AJMG20>3.0.CO;2-P","article-title":"Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family","volume":"80","author":"Lalwani","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170503072655_DDT285C43","article-title":"A variant of Tietz syndrome caused by a mutation in the basic domain of the MITF gene","author":"Welch","year":"2002"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/22\/21\/4357\/14139656\/ddt285.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T23:47:35Z","timestamp":1645832855000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddt285"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,20]]},"references-count":43,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2013,6,20]]},"published-print":{"date-parts":[[2013,11,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddt285","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2013,6,20]]}}}