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118 related items for PubMed ID: 12609493

  • 1. Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.
    Musso M, Balestra P, Taroni F, Bellone E, Mandich P.
    Neurobiol Dis; 2003 Feb; 12(1):89-95. PubMed ID: 12609493
    [Abstract] [Full Text] [Related]

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

  • 3. 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; 8(4):700-6. PubMed ID: 11493034
    [Abstract] [Full Text] [Related]

  • 4. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
    Warner LE, Svaren J, Milbrandt J, Lupski JR.
    Hum Mol Genet; 1999 Jul; 8(7):1245-51. PubMed ID: 10369870
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
    Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR.
    Nat Genet; 1998 Apr 15; 18(4):382-4. PubMed ID: 9537424
    [Abstract] [Full Text] [Related]

  • 7. Common themes in peripheral neuropathy disease genes.
    Snipes GJ, Orfali W.
    Cell Biol Int; 1998 Nov 15; 22(11-12):815-35. PubMed ID: 10873294
    [Abstract] [Full Text] [Related]

  • 8. Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons.
    Maier M, Castagner F, Berger P, Suter U.
    Mol Cell Neurosci; 2003 Nov 15; 24(3):803-17. PubMed ID: 14664827
    [Abstract] [Full Text] [Related]

  • 9. Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.
    Houlden H, Girard M, Cockerell C, Ingram D, Wood NW, Goossens M, Walker RW, Reilly MM.
    Ann Neurol; 2004 Nov 15; 56(5):730-4. PubMed ID: 15470753
    [Abstract] [Full Text] [Related]

  • 10. Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination.
    Le N, Nagarajan R, Wang JY, Araki T, Schmidt RE, Milbrandt J.
    Proc Natl Acad Sci U S A; 2005 Feb 15; 102(7):2596-601. PubMed ID: 15695336
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Jul 15; (193):iv-22. PubMed ID: 23106488
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases.
    Shames I, Fraser A, Colby J, Orfali W, Snipes GJ.
    J Neuropathol Exp Neurol; 2003 Jul 15; 62(7):751-64. PubMed ID: 12901701
    [Abstract] [Full Text] [Related]

  • 14. Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
    Wang HL, Chang WT, Yeh TH, Wu T, Chen MS, Wu CY.
    Neurobiol Dis; 2004 Mar 15; 15(2):361-70. PubMed ID: 15006706
    [Abstract] [Full Text] [Related]

  • 15. A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
    Bellone E, Di Maria E, Soriani S, Varese A, Doria LL, Ajmar F, Mandich P.
    Hum Mutat; 1999 Oct 15; 14(4):353-4. PubMed ID: 10502832
    [Abstract] [Full Text] [Related]

  • 16. 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
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  • 19. EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression.
    Nagarajan R, Svaren J, Le N, Araki T, Watson M, Milbrandt J.
    Neuron; 2001 May 14; 30(2):355-68. PubMed ID: 11394999
    [Abstract] [Full Text] [Related]

  • 20. Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene.
    Hai M, Bidichandani SI, Patel PI.
    J Neurosci Res; 2001 Sep 15; 65(6):508-19. PubMed ID: 11550219
    [Abstract] [Full Text] [Related]

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