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Journal Abstract Search

274 related items for PubMed ID: 10400990

  • 1. An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.
    Yajima I, Sato S, Kimura T, Yasumoto K, Shibahara S, Goding CR, Yamamoto H.
    Hum Mol Genet; 1999 Aug; 8(8):1431-41. PubMed ID: 10400990
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  • 4. Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene.
    Watanabe K, Takeda K, Yasumoto K, Udono T, Saito H, Ikeda K, Takasaka T, Takahashi K, Kobayashi T, Tachibana M, Shibahara S.
    Pigment Cell Res; 2002 Jun; 15(3):201-11. PubMed ID: 12028584
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  • 5. Implications of isoform multiplicity of microphthalmia-associated transcription factor in the pathogenesis of auditory-pigmentary syndromes.
    Shibahara S, Yasumoto K, Amae S, Fuse N, Udono T, Takahashi K.
    J Investig Dermatol Symp Proc; 1999 Sep; 4(2):101-4. PubMed ID: 10536982
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  • 8. Altered expression of the iron transporter Nramp1 (Slc11a1) during fetal development of the retinal pigment epithelium in microphthalmia-associated transcription factor Mitf(mi) and Mitf(vitiligo) mouse mutants.
    Gelineau-van Waes J, Smith L, van Waes M, Wilberding J, Eudy JD, Bauer LK, Maddox J.
    Exp Eye Res; 2008 Feb; 86(2):419-33. PubMed ID: 18191835
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  • 9. Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2.
    Lee M, Goodall J, Verastegui C, Ballotti R, Goding CR.
    J Biol Chem; 2000 Dec 01; 275(48):37978-83. PubMed ID: 10973953
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  • 10. Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.
    Hallsson JH, Favor J, Hodgkinson C, Glaser T, Lamoreux ML, Magnúsdóttir R, Gunnarsson GJ, Sweet HO, Copeland NG, Jenkins NA, Steingrímsson E.
    Genetics; 2000 May 01; 155(1):291-300. PubMed ID: 10790403
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  • 14. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
    Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ.
    Hum Genet; 2000 Jul 01; 107(1):1-6. PubMed ID: 10982026
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  • 15. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
    Watanabe A, Takeda K, Ploplis B, Tachibana M.
    Nat Genet; 1998 Mar 01; 18(3):283-6. PubMed ID: 9500554
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  • 19. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
    Tassabehji M, Newton VE, Read AP.
    Nat Genet; 1994 Nov 01; 8(3):251-5. PubMed ID: 7874167
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  • 20. Regional Fluctuation in the Functional Consequence of LINE-1 Insertion in the Mitf Gene: The Black Spotting Phenotype Arisen from the Mitfmi-bw Mouse Lacking Melanocytes.
    Takeda K, Hozumi H, Ohba K, Yamamoto H, Shibahara S.
    PLoS One; 2016 Nov 01; 11(3):e0150228. PubMed ID: 26930598
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