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111 related items for PubMed ID: 11499640

  • 1. The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders.
    Pingault V, Bondurand N, Le Caignec C, Tardieu S, Lemort N, Dubourg O, Le Guern E, Goossens M, Boespflug-Tanguy O, Clinical E.N.B.D.D. Clinical European Network on Brain Dysmyelinating Disease.
    J Neurol; 2001 Jun; 248(6):496-9. PubMed ID: 11499640
    [Abstract] [Full Text] [Related]

  • 2. Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10.
    Bondurand N, Girard M, Pingault V, Lemort N, Dubourg O, Goossens M.
    Hum Mol Genet; 2001 Nov 15; 10(24):2783-95. PubMed ID: 11734543
    [Abstract] [Full Text] [Related]

  • 3. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.
    Niemann A, Berger P, Suter U.
    Neuromolecular Med; 2006 Nov 15; 8(1-2):217-42. PubMed ID: 16775378
    [Abstract] [Full Text] [Related]

  • 4. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.
    Inoue K, Tanabe Y, Lupski JR.
    Ann Neurol; 1999 Sep 15; 46(3):313-8. PubMed ID: 10482261
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation.
    Chan KK, Wong CK, Lui VC, Tam PK, Sham MH.
    J Cell Biochem; 2003 Oct 15; 90(3):573-85. PubMed ID: 14523991
    [Abstract] [Full Text] [Related]

  • 7. Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.
    Lopez-Anido C, Poitelon Y, Gopinath C, Moran JJ, Ma KH, Law WD, Antonellis A, Feltri ML, Svaren J.
    Hum Mol Genet; 2016 Jul 15; 25(14):3055-3069. PubMed ID: 27288457
    [Abstract] [Full Text] [Related]

  • 8. SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
    Pingault V, Girard M, Bondurand N, Dorkins H, Van Maldergem L, Mowat D, Shimotake T, Verma I, Baumann C, Goossens M.
    Hum Genet; 2002 Aug 15; 111(2):198-206. PubMed ID: 12189494
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
    Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP.
    Ann Neurol; 2002 Dec 14; 52(6):836-42. PubMed ID: 12447940
    [Abstract] [Full Text] [Related]

  • 11. Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice.
    Anderson SR, Lee I, Ebeling C, Stephenson DA, Schweitzer KM, Baxter D, Moon TM, LaPierre S, Jaques B, Silvius D, Wegner M, Hood LE, Carlson G, Gunn TM.
    Mamm Genome; 2015 Feb 14; 26(1-2):80-93. PubMed ID: 25399070
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 May 14; (193):iv-22. PubMed ID: 23106488
    [Abstract] [Full Text] [Related]

  • 14. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).
    Berger P, Niemann A, Suter U.
    Glia; 2006 Sep 14; 54(4):243-57. PubMed ID: 16856148
    [Abstract] [Full Text] [Related]

  • 15. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
    Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Augé J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, Vekemans M, Lyonnet S.
    Am J Hum Genet; 2000 May 14; 66(5):1496-503. PubMed ID: 10762540
    [Abstract] [Full Text] [Related]

  • 16. Terminal differentiation of myelin-forming oligodendrocytes depends on the transcription factor Sox10.
    Stolt CC, Rehberg S, Ader M, Lommes P, Riethmacher D, Schachner M, Bartsch U, Wegner M.
    Genes Dev; 2002 Jan 15; 16(2):165-70. PubMed ID: 11799060
    [Abstract] [Full Text] [Related]

  • 17. SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
    Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M.
    Nat Genet; 1998 Feb 15; 18(2):171-3. PubMed ID: 9462749
    [Abstract] [Full Text] [Related]

  • 18. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.
    Southard-Smith EM, Kos L, Pavan WJ.
    Nat Genet; 1998 Jan 15; 18(1):60-4. PubMed ID: 9425902
    [Abstract] [Full Text] [Related]

  • 19. Chick sox10, a transcription factor expressed in both early neural crest cells and central nervous system.
    Cheng Y, Cheung M, Abu-Elmagd MM, Orme A, Scotting PJ.
    Brain Res Dev Brain Res; 2000 Jun 30; 121(2):233-41. PubMed ID: 10876038
    [Abstract] [Full Text] [Related]

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