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215 related items for PubMed ID: 24833716

  • 1. Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.
    Brewer MH, Ma KH, Beecham GW, Gopinath C, Baas F, Choi BO, Reilly MM, Shy ME, Züchner S, Svaren J, Antonellis A.
    Hum Mol Genet; 2014 Oct 01; 23(19):5171-87. PubMed ID: 24833716
    [Abstract] [Full Text] [Related]

  • 2. SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
    Fogarty EA, Brewer MH, Rodriguez-Molina JF, Law WD, Ma KH, Steinberg NM, Svaren J, Antonellis A.
    Hum Mol Genet; 2016 Sep 15; 25(18):3925-3936. PubMed ID: 27466180
    [Abstract] [Full Text] [Related]

  • 3. Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.
    Schiza N, Georgiou E, Kagiava A, Médard JJ, Richter J, Tryfonos C, Sargiannidou I, Heslegrave AJ, Rossor AM, Zetterberg H, Reilly MM, Christodoulou C, Chrast R, Kleopa KA.
    Brain; 2019 May 01; 142(5):1227-1241. PubMed ID: 30907403
    [Abstract] [Full Text] [Related]

  • 4. Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.
    Vijay S, Chiu M, Dacks JB, Roberts RC.
    Biochim Biophys Acta; 2016 Jul 01; 1862(7):1279-90. PubMed ID: 27068304
    [Abstract] [Full Text] [Related]

  • 5. A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve.
    Law WD, Fogarty EA, Vester A, Antonellis A.
    BMC Genomics; 2018 May 02; 19(1):311. PubMed ID: 29716548
    [Abstract] [Full Text] [Related]

  • 6. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
    Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Kleine H, Luscher B, Weis J, Suter U, Senderek J, Chrast R.
    Proc Natl Acad Sci U S A; 2009 Oct 13; 106(41):17528-33. PubMed ID: 19805030
    [Abstract] [Full Text] [Related]

  • 7. SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter.
    Hodonsky CJ, Kleinbrink EL, Charney KN, Prasad M, Bessling SL, Jones EA, Srinivasan R, Svaren J, McCallion AS, Antonellis A.
    Mol Cell Neurosci; 2012 Feb 13; 49(2):85-96. PubMed ID: 22037207
    [Abstract] [Full Text] [Related]

  • 8. Transcriptional regulation of the mouse alpha A-crystallin gene: activation dependent on a cyclic AMP-responsive element (DE1/CRE) and a Pax-6-binding site.
    Cvekl A, Kashanchi F, Sax CM, Brady JN, Piatigorsky J.
    Mol Cell Biol; 1995 Feb 13; 15(2):653-60. PubMed ID: 7823934
    [Abstract] [Full Text] [Related]

  • 9. Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation.
    Gopinath C, Law WD, Rodríguez-Molina JF, Prasad AB, Song L, Crawford GE, Mullikin JC, Svaren J, Antonellis A.
    BMC Genomics; 2016 Nov 07; 17(1):887. PubMed ID: 27821050
    [Abstract] [Full Text] [Related]

  • 10. AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C.
    Georgiou E, Kagiava A, Sargiannidou I, Schiza N, Stavrou M, Richter J, Tryfonos C, Heslegrave A, Zetterberg H, Christodoulou C, Kleopa KA.
    Mol Ther; 2023 Nov 01; 31(11):3290-3307. PubMed ID: 37641403
    [Abstract] [Full Text] [Related]

  • 11. SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
    Stendel C, Roos A, Kleine H, Arnaud E, Ozçelik M, Sidiropoulos PN, Zenker J, Schüpfer F, Lehmann U, Sobota RM, Litchfield DW, Lüscher B, Chrast R, Suter U, Senderek J.
    Brain; 2010 Aug 01; 133(Pt 8):2462-74. PubMed ID: 20826437
    [Abstract] [Full Text] [Related]

  • 12. Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
    Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D.
    J Peripher Nerv Syst; 2016 Sep 01; 21(3):142-9. PubMed ID: 27231023
    [Abstract] [Full Text] [Related]

  • 13. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.
    Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM.
    Neuromuscul Disord; 2009 Apr 01; 19(4):264-9. PubMed ID: 19272779
    [Abstract] [Full Text] [Related]

  • 14. Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
    Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard JJ, Maurer F, Beckmann JS, Senderek J, Palau F, Espinós C, Chrast R.
    Glia; 2013 Jul 01; 61(7):1041-51. PubMed ID: 23553667
    [Abstract] [Full Text] [Related]

  • 15. The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
    Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C.
    Clin Genet; 2007 Apr 01; 71(4):343-9. PubMed ID: 17470135
    [Abstract] [Full Text] [Related]

  • 16. Role of basic region leucine zipper transcription factors cyclic AMP response element binding protein (CREB), CREB2, activating transcription factor 2 and CAAT/enhancer binding protein alpha in cyclic AMP response element-mediated transcription.
    Thiel G, Al Sarraj J, Vinson C, Stefano L, Bach K.
    J Neurochem; 2005 Jan 01; 92(2):321-36. PubMed ID: 15663480
    [Abstract] [Full Text] [Related]

  • 17. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.
    Niemann A, Berger P, Suter U.
    Neuromolecular Med; 2006 Jan 01; 8(1-2):217-42. PubMed ID: 16775378
    [Abstract] [Full Text] [Related]

  • 18. Two CGTCA motifs and a GHF1/Pit1 binding site mediate cAMP-dependent protein kinase A regulation of human growth hormone gene expression in rat anterior pituitary GC cells.
    Shepard AR, Zhang W, Eberhardt NL.
    J Biol Chem; 1994 Jan 21; 269(3):1804-14. PubMed ID: 8294429
    [Abstract] [Full Text] [Related]

  • 19. ATF1 and CREB trans-activate a cell cycle regulated histone H4 gene at a distal nuclear matrix associated promoter element.
    Guo B, Stein JL, van Wijnen AJ, Stein GS.
    Biochemistry; 1997 Nov 25; 36(47):14447-55. PubMed ID: 9398163
    [Abstract] [Full Text] [Related]

  • 20. 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]

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