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201 related items for PubMed ID: 10790403

  • 1. 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; 155(1):291-300. PubMed ID: 10790403
    [Abstract] [Full Text] [Related]

  • 2. Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform.
    Hershey CL, Fisher DE.
    Gene; 2005 Feb 28; 347(1):73-82. PubMed ID: 15715979
    [Abstract] [Full Text] [Related]

  • 3. 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 28; 8(8):1431-41. PubMed ID: 10400990
    [Abstract] [Full Text] [Related]

  • 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 28; 15(3):201-11. PubMed ID: 12028584
    [Abstract] [Full Text] [Related]

  • 5. The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins.
    Hansdottir AG, Pálsdóttir K, Favor J, Neuhäuser-Klaus A, Fuchs H, de Angelis MH, Steingrímsson E.
    Genomics; 2004 May 28; 83(5):932-5. PubMed ID: 15081122
    [Abstract] [Full Text] [Related]

  • 6. 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 28; 107(1):1-6. PubMed ID: 10982026
    [Abstract] [Full Text] [Related]

  • 7. Inhibitory effect of the transcription factor encoded by the mutant mi microphthalmia allele on transactivation of mouse mast cell protease 7 gene.
    Ogihara H, Morii E, Kim DK, Oboki K, Kitamura Y.
    Blood; 2001 Feb 01; 97(3):645-51. PubMed ID: 11157480
    [Abstract] [Full Text] [Related]

  • 8. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.
    Steingrímsson E, Moore KJ, Lamoreux ML, Ferré-D'Amaré AR, Burley SK, Zimring DC, Skow LC, Hodgkinson CA, Arnheiter H, Copeland NG.
    Nat Genet; 1994 Nov 01; 8(3):256-63. PubMed ID: 7874168
    [Abstract] [Full Text] [Related]

  • 9. Melanocytes and the microphthalmia transcription factor network.
    Steingrímsson E, Copeland NG, Jenkins NA.
    Annu Rev Genet; 2004 Nov 01; 38():365-411. PubMed ID: 15568981
    [Abstract] [Full Text] [Related]

  • 10. Electroretinographic assessment of retinal function in microphthalmia mutant mice.
    Möller A, Eysteinsson T, Steingrímsson E.
    Exp Eye Res; 2004 Apr 01; 78(4):837-48. PubMed ID: 15037118
    [Abstract] [Full Text] [Related]

  • 11. Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.
    Nobukuni Y, Watanabe A, Takeda K, Skarka H, Tachibana M.
    Am J Hum Genet; 1996 Jul 01; 59(1):76-83. PubMed ID: 8659547
    [Abstract] [Full Text] [Related]

  • 12. Interallelic complementation at the mouse Mitf locus.
    Steingrímsson E, Arnheiter H, Hallsson JH, Lamoreux ML, Copeland NG, Jenkins NA.
    Genetics; 2003 Jan 01; 163(1):267-76. PubMed ID: 12586714
    [Abstract] [Full Text] [Related]

  • 13. The semidominant Mi(b) mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization.
    Steingrímsson E, Nii A, Fisher DE, Ferré-D'Amaré AR, McCormick RJ, Russell LB, Burley SK, Ward JM, Jenkins NA, Copeland NG.
    EMBO J; 1996 Nov 15; 15(22):6280-9. PubMed ID: 8947051
    [Abstract] [Full Text] [Related]

  • 14. Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells.
    Shigemura T, Shiohara M, Tanaka M, Takeuchi K, Koike K.
    J Pediatr Hematol Oncol; 2010 Aug 15; 32(6):442-7. PubMed ID: 20485200
    [Abstract] [Full Text] [Related]

  • 15. The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential.
    Takebayashi K, Chida K, Tsukamoto I, Morii E, Munakata H, Arnheiter H, Kuroki T, Kitamura Y, Nomura S.
    Mol Cell Biol; 1996 Mar 15; 16(3):1203-11. PubMed ID: 8622664
    [Abstract] [Full Text] [Related]

  • 16. Inhibitory effect on natural killer activity of microphthalmia transcription factor encoded by the mutant mi allele of mice.
    Ito A, Kataoka TR, Kim DK, Koma Y, Lee YM, Kitamura Y.
    Blood; 2001 Apr 01; 97(7):2075-83. PubMed ID: 11264174
    [Abstract] [Full Text] [Related]

  • 17. Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.
    Verastegui C, Bille K, Ortonne JP, Ballotti R.
    J Biol Chem; 2000 Oct 06; 275(40):30757-60. PubMed ID: 10938265
    [Abstract] [Full Text] [Related]

  • 18. Dual abnormal effects of mutant MITF encoded by Mi(wh) allele on mouse mast cells: decreased but recognizable transactivation and inhibition of transactivation.
    Kataoka TR, Morii E, Oboki K, Jippo T, Maeyama K, Kitamura Y.
    Biochem Biophys Res Commun; 2002 Sep 13; 297(1):111-5. PubMed ID: 12220516
    [Abstract] [Full Text] [Related]

  • 19. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
    Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM.
    Clin Dysmorphol; 1998 Jan 13; 7(1):17-20. PubMed ID: 9546825
    [Abstract] [Full Text] [Related]

  • 20. Regulation of mouse mast cell protease 6 gene expression by transcription factor encoded by the mi locus.
    Morii E, Tsujimura T, Jippo T, Hashimoto K, Takebayashi K, Tsujino K, Nomura S, Yamamoto M, Kitamura Y.
    Blood; 1996 Oct 01; 88(7):2488-94. PubMed ID: 8839840
    [Abstract] [Full Text] [Related]

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