{"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":1791464745603,"version":"4.3.4"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,11,16]],"date-time":"2012-11-16T00:00:00Z","timestamp":1353024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The human deafness\u2010pigmentation syndromes, Waardenburg syndrome (<jats:styled-content style=\"fixed-case\">WS<\/jats:styled-content>) type 2a, and <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>ietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. Both syndromes are caused by mutations in <jats:italic><jats:styled-content style=\"fixed-case\">MITF<\/jats:styled-content><\/jats:italic>. To illuminate differences between cutaneous and otic melanocytes in these syndromes, their development and survival in heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>icrophthalmia\u2010<jats:styled-content style=\"fixed-case\">W<\/jats:styled-content>hite (<jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>itf<\/jats:italic><jats:sup><jats:italic>Mi\u2010wh<\/jats:italic><\/jats:sup>\/+) mice were studied and hearing function of these mice characterized. <jats:italic><jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>itf<\/jats:italic><jats:sup><jats:italic>Mi\u2010wh<\/jats:italic><\/jats:sup>\/+ mice have a profound hearing deficit, characterized by elevated auditory brainstem response thresholds, reduced distortion product otoacoustic emissions, absent endocochlear potential, loss of outer hair cells, and stria vascularis abnormalities. <jats:italic><jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>itf<\/jats:italic><jats:sup><jats:italic>Mi\u2010wh<\/jats:italic><\/jats:sup>\/+ embryos have fewer melanoblasts during embryonic development than their wild\u2010type littermates. Although cochlear melanocytes are present at birth, they disappear from the <jats:italic><jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>itf<\/jats:italic><jats:sup><jats:italic>Mi\u2010wh<\/jats:italic><\/jats:sup>\/+ cochlea between <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>1 and <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>7. These findings may provide insight into the mechanism of melanocyte and hearing loss in human deafness\u2010pigmentation syndromes such as <jats:styled-content style=\"fixed-case\">WS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>ietz syndrome and illustrate differences between otic and follicular melanocytes.<\/jats:p>","DOI":"10.1111\/pcmr.12030","type":"journal-article","created":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T07:08:32Z","timestamp":1349075312000},"page":"78-87","source":"Crossref","is-referenced-by-count":34,"title":["Hearing dysfunction in heterozygous <i><scp>M<\/scp>itf<\/i><sup><i>Mi\u2010wh<\/i><\/sup>\/+ mice, a model for <scp>W<\/scp>aardenburg syndrome type 2 and <scp>T<\/scp>ietz syndrome"],"prefix":"10.1111","volume":"26","author":[{"given":"Christina","family":"Ni","sequence":"first","affiliation":[{"name":"Dermatology Branch Center for Cancer Research National Cancer Institute National Institutes of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deming","family":"Zhang","sequence":"additional","affiliation":[{"name":"Dermatology Branch Center for Cancer Research National Cancer Institute National Institutes of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A.","family":"Beyer","sequence":"additional","affiliation":[{"name":"Kresge Hearing Research Institute Department of Otolaryngology The University of Michigan Medical School Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin E.","family":"Halsey","sequence":"additional","affiliation":[{"name":"Kresge Hearing Research Institute Department of Otolaryngology The University of Michigan Medical School Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideto","family":"Fukui","sequence":"additional","affiliation":[{"name":"Kresge Hearing Research Institute Department of Otolaryngology The University of Michigan Medical School Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yehoash","family":"Raphael","sequence":"additional","affiliation":[{"name":"Kresge Hearing Research Institute Department of Otolaryngology The University of Michigan Medical School Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David F.","family":"Dolan","sequence":"additional","affiliation":[{"name":"Kresge Hearing Research Institute Department of Otolaryngology The University of Michigan Medical School Ann Arbor MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas J.","family":"Hornyak","sequence":"additional","affiliation":[{"name":"Dermatology Branch Center for Cancer Research National Cancer Institute National Institutes of Health Bethesda MD USA"},{"name":"VA Maryland Health Care System Baltimore MD USA"},{"name":"Departments of Dermatology and Biochemistry and Molecular Biology University of Maryland School of Medicine Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1998.8838"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199801000-00003"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-002-0480-z"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00044.2006"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2005.00249.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03269"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.05.066"},{"key":"e_1_2_7_9_1","first-page":"533","article-title":"The neural crest and the acoustic ganglion","volume":"17","author":"Deol M.S.","year":"1967","journal-title":"J. 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