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Journal Abstract Search

232 related items for PubMed ID: 11734543

  • 21. The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.
    Mollaaghababa R, Pavan WJ.
    Oncogene; 2003 May 19; 22(20):3024-34. PubMed ID: 12789277
    [Abstract] [Full Text] [Related]

  • 22. Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors.
    Ludwig A, Rehberg S, Wegner M.
    FEBS Lett; 2004 Jan 02; 556(1-3):236-44. PubMed ID: 14706856
    [Abstract] [Full Text] [Related]

  • 23. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer.
    Lang D, Epstein JA.
    Hum Mol Genet; 2003 Apr 15; 12(8):937-45. PubMed ID: 12668617
    [Abstract] [Full Text] [Related]

  • 24. Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease.
    Abrams CK, Oh S, Ri Y, Bargiello TA.
    Brain Res Brain Res Rev; 2000 Apr 15; 32(1):203-14. PubMed ID: 10751671
    [Abstract] [Full Text] [Related]

  • 25. Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
    Beauvais K, Furby A, Latour P.
    Neuromuscul Disord; 2006 Jan 15; 16(1):14-8. PubMed ID: 16373087
    [Abstract] [Full Text] [Related]

  • 26. Sox10 acts as a tissue-specific transcription factor enhancing activation of the myelin basic protein gene promoter by p27Kip1 and Sp1.
    Wei Q, Miskimins WK, Miskimins R.
    J Neurosci Res; 2004 Dec 15; 78(6):796-802. PubMed ID: 15523643
    [Abstract] [Full Text] [Related]

  • 27. Regulation of myelin-specific gene expression. Relevance to CMT1.
    Kamholz J, Awatramani R, Menichella D, Jiang H, Xu W, Shy M.
    Ann N Y Acad Sci; 1999 Sep 14; 883():91-108. PubMed ID: 10586235
    [Abstract] [Full Text] [Related]

  • 28. The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter.
    Musso M, Balestra P, Bellone E, Cassandrini D, Di Maria E, Doria LL, Grandis M, Mancardi GL, Schenone A, Levi G, Ajmar F, Mandich P.
    Neurobiol Dis; 2001 Aug 14; 8(4):700-6. PubMed ID: 11493034
    [Abstract] [Full Text] [Related]

  • 29. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
    Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K.
    Hum Mutat; 2002 Nov 14; 20(5):392-8. PubMed ID: 12402337
    [Abstract] [Full Text] [Related]

  • 30. The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.
    Southard-Smith EM, Angrist M, Ellison JS, Agarwala R, Baxevanis AD, Chakravarti A, Pavan WJ.
    Genome Res; 1999 Mar 14; 9(3):215-25. PubMed ID: 10077527
    [Abstract] [Full Text] [Related]

  • 31. Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).
    Matsuyama W, Nakagawa M, Moritoyo T, Takashima H, Umehara F, Hirata K, Suehara M, Osame M.
    J Hum Genet; 2001 Mar 14; 46(6):307-13. PubMed ID: 11393532
    [Abstract] [Full Text] [Related]

  • 32. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
    Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrgård E, Aula P, Savontaus ML.
    Hum Mutat; 1998 Mar 14; 12(1):59-68. PubMed ID: 9633821
    [Abstract] [Full Text] [Related]

  • 33. Neuropathy-associated Egr2 mutants disrupt cooperative activation of myelin protein zero by Egr2 and Sox10.
    LeBlanc SE, Ward RM, Svaren J.
    Mol Cell Biol; 2007 May 14; 27(9):3521-9. PubMed ID: 17325040
    [Abstract] [Full Text] [Related]

  • 34. Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.
    Abrams CK, Freidin MM, Verselis VK, Bennett MV, Bargiello TA.
    Brain Res; 2001 May 04; 900(1):9-25. PubMed ID: 11325342
    [Abstract] [Full Text] [Related]

  • 35. Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome.
    Antonellis A, Bennett WR, Menheniott TR, Prasad AB, Lee-Lin SQ, NISC Comparative Sequencing Program, Green ED, Paisley D, Kelsh RN, Pavan WJ, Ward A.
    Hum Mol Genet; 2006 Jan 15; 15(2):259-71. PubMed ID: 16330480
    [Abstract] [Full Text] [Related]

  • 36. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.
    Verheij JB, Sival DA, van der Hoeven JH, Vos YJ, Meiners LC, Brouwer OF, van Essen AJ.
    Eur J Paediatr Neurol; 2006 Jan 15; 10(1):11-7. PubMed ID: 16504559
    [Abstract] [Full Text] [Related]

  • 37. Connexin32 and X-linked Charcot-Marie-Tooth disease.
    Bone LJ, Deschênes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS.
    Neurobiol Dis; 1997 Jan 15; 4(3-4):221-30. PubMed ID: 9361298
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