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Anim."],"published-print":{"date-parts":[[2017]]},"DOI":"10.1538\/expanim.17-0013","type":"journal-article","created":{"date-parts":[[2017,4,5]],"date-time":"2017-04-05T20:59:45Z","timestamp":1491425985000},"page":"245-250","source":"Crossref","is-referenced-by-count":3,"title":["A new missense mutation in the paired domain of the mouse            &lt;i&gt;Pax3&lt;\/i&gt; gene"],"prefix":"10.1538","volume":"66","author":[{"given":"Tamio","family":"Ohno","sequence":"first","affiliation":[{"name":"Division of Experimental Animals, Graduate School of              Medicine, Nagoya University, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi 466-8550,              Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoki","family":"Maegawa","sequence":"additional","affiliation":[{"name":"Division of Experimental Animals, Graduate School of              Medicine, Nagoya University, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi 466-8550,              Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroto","family":"Katoh","sequence":"additional","affiliation":[{"name":"Division of Experimental Animals, Graduate School of              Medicine, Nagoya University, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi 466-8550,              Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuki","family":"Miyasaka","sequence":"additional","affiliation":[{"name":"Division of Experimental Animals, Graduate School of              Medicine, Nagoya University, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi 466-8550,              Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miyako","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Applied Molecular Bioscience, Graduate              School of Bioagricultural Sciences, Nagoya University, Furo-cho, Chikusa-ku, Nagoya,              Aichi 464-8601, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Misato","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Applied Molecular Bioscience, Graduate              School of Bioagricultural Sciences, Nagoya University, Furo-cho, Chikusa-ku, Nagoya,              Aichi 464-8601, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumihiko","family":"Horio","sequence":"additional","affiliation":[{"name":"Department of Applied Molecular Bioscience, Graduate              School of Bioagricultural Sciences, Nagoya University, Furo-cho, Chikusa-ku, Nagoya,              Aichi 464-8601, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"439","reference":[{"key":"1","unstructured":"1. Asher              J.H.              Jr., Harrison              R.W., Morell              R., Carey              M.L., and                Friedman              T.B.          1996. Effects of <i>Pax3<\/i> modifier genes on            craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg            syndrome variation. <i>Genomics<\/i>          34: 285\u2013298."},{"key":"2","unstructured":"2. Auerbach              R.          1954. Analysis of the developmental effects of a lethal            mutation in the house mouse. <i>J. Exp.            Zool.<\/i>          127: 305\u2013329."},{"key":"3","unstructured":"3. Baxter              L.L., Hou              L., Loftus              S.K., and                Pavan              W.J.          2004. Spotlight on spotted mice: a review of white spotting            mouse mutants and associated human pigmentation disorders.              <i>Pigment Cell Res.<\/i>          17: 215\u2013224."},{"key":"4","unstructured":"4. Bogani              D., Warr              N., Elms              P., Davies              J.,                Tymowska-Lalanne              Z.,                Goldsworthy              M., Cox              R.D., Keays              D.A., Flint              J., Wilson              V., Nolan              P., and                Arkell              R.          2004. New semidominant mutations that affect mouse            development. <i>Genesis<\/i>          40: 109\u2013117."},{"key":"5","unstructured":"5. Epstein              D.J.,                Vekemans              M., and Gros              P.          1991. <i>Splotch<\/i>              (<i>Sp<sup>2H<\/sup><\/i>), a mutation affecting development of the mouse            neural tube, shows a deletion within the paired homeodomain of            <i>Pax-3<\/i>. <i>Cell<\/i>          67: 767\u2013774."},{"key":"6","unstructured":"6. Franz              T.          1992. Neural tube defects without neural crest defects in            splotch mice. <i>Teratology<\/i>          46: 599\u2013604."},{"key":"7","unstructured":"7. Guo              X.L., Ruan              H.B., Li              Y., Gao              X., and Li              W.          2010. Identification of a novel nonsense mutation on the              <i>Pax3<\/i> gene in ENU-derived white belly spotting mice and its genetic            interaction with <i>c-Kit<\/i>. <i>Pigment Cell              Melanoma Res.<\/i>          23: 252\u2013262."},{"key":"8","unstructured":"8. Hol              F.A., Geurds              M.P., Cremers              C.W., Hamel              B.C., and                Mariman              E.C.          1998. Identification of two PAX3 mutations causing Waardenburg            syndrome, one within the paired domain (M62V) and the other downstream of the            homeodomain (Q282X). <i>Hum. Mutat.<\/i>          11(Suppl 1):            S145\u2013S147."},{"key":"9","unstructured":"9. Kubic              J.D., Young              K.P., Plummer              R.S., Ludvik              A.E., and                Lang              D.          2008. Pigmentation PAX-ways: the role of Pax3 in            melanogenesis, melanocyte stem cell maintenance, and disease.              <i>Pigment Cell Melanoma Res.<\/i>          21: 627\u2013645."},{"key":"10","unstructured":"10. Ohnishi              T., Miura              I., Ohba              H., Shimamoto              C., Iwayama              Y., Wakana              S., and                Yoshikawa              T.          2017. A spontaneous and novel <i>Pax3<\/i> mutant            mouse that models Waardenburg syndrome and neural tube defects.              <i>Gene<\/i>          607: 16\u201322."},{"key":"11","unstructured":"11. Pingault              V., Ente              D., Dastot-Le                Moal              F., Goossens              M., Marlin              S., and                Bondurand              N.          2010. Review and update of mutations causing Waardenburg            syndrome. <i>Hum. Mutat.<\/i>          31: 391\u2013406."},{"key":"12","unstructured":"12. Tachibana              M., Kobayashi              Y., and                Matsushima              Y.          2003. Mouse models for four types of Waardenburg            syndrome. <i>Pigment Cell Res.<\/i>          16: 448\u2013454."},{"key":"13","unstructured":"13. Vogan              K.J., Epstein              D.J., Trasler              D.G., and                Gros              P.          1993. The <i>splotch-delayed<\/i>                (<i>Sp<sup>d<\/sup><\/i>) mouse mutant carries a point mutation within the            paired box of the <i>Pax-3<\/i> gene.              <i>Genomics<\/i>          17: 364\u2013369."},{"key":"14","unstructured":"14. Xiao              Y., Zhang              L., He              K., Gao              X., Yang              L., He              L., Ma              G., and Guo              X.          2011. Characterization of a novel missense mutation on murine            Pax3 through ENU mutagenesis. <i>J. Genet.              Genomics<\/i>          38: 333\u2013339."}],"container-title":["Experimental Animals"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/expanim\/66\/3\/66_17-0013\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,5]],"date-time":"2017-08-05T00:12:10Z","timestamp":1501891930000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/expanim\/66\/3\/66_17-0013\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.1538\/expanim.17-0013","relation":{},"ISSN":["1341-1357","1881-7122"],"issn-type":[{"value":"1341-1357","type":"print"},{"value":"1881-7122","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}