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601 related items for PubMed ID: 11179021

  • 1. Familial dysautonomia is caused by mutations of the IKAP gene.
    Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY.
    Am J Hum Genet; 2001 Mar; 68(3):753-8. PubMed ID: 11179021
    [Abstract] [Full Text] [Related]

  • 2. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
    Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF.
    Am J Hum Genet; 2001 Mar; 68(3):598-605. PubMed ID: 11179008
    [Abstract] [Full Text] [Related]

  • 3. Genomic organization and chromosomal localization of the mouse IKBKAP gene.
    Coli R, Anderson SL, Volpi SA, Rubin BY.
    Gene; 2001 Nov 14; 279(1):81-9. PubMed ID: 11722848
    [Abstract] [Full Text] [Related]

  • 4. Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia.
    Anderson SL, Qiu J, Rubin BY.
    Biochem Biophys Res Commun; 2003 Jun 20; 306(1):303-9. PubMed ID: 12788105
    [Abstract] [Full Text] [Related]

  • 5. [Molecular and cellular characterization ion of IKAP protein and the Elongator complex. Implications for familial dysautonomia].
    Close P, Creppe C, Cornez I, Chariot A.
    Bull Mem Acad R Med Belg; 2007 Jun 20; 162(5-6):315-22. PubMed ID: 18405001
    [Abstract] [Full Text] [Related]

  • 6. MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.
    Hervé M, Ibrahim EC.
    Dis Model Mech; 2016 Aug 01; 9(8):899-909. PubMed ID: 27483351
    [Abstract] [Full Text] [Related]

  • 7. Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.
    Dietrich P, Yue J, E S, Dragatsis I.
    PLoS One; 2011 Aug 01; 6(10):e27015. PubMed ID: 22046433
    [Abstract] [Full Text] [Related]

  • 8. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
    Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA.
    Am J Hum Genet; 2003 Mar 01; 72(3):749-58. PubMed ID: 12577200
    [Abstract] [Full Text] [Related]

  • 9. Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells.
    Keren H, Donyo M, Zeevi D, Maayan C, Pupko T, Ast G.
    PLoS One; 2010 Dec 29; 5(12):e15884. PubMed ID: 21209961
    [Abstract] [Full Text] [Related]

  • 10. Nutraceutical-mediated restoration of wild-type levels of IKBKAP-encoded IKAP protein in familial dysautonomia-derived cells.
    Anderson SL, Liu B, Qiu J, Sturm AJ, Schwartz JA, Peters AJ, Sullivan KA, Rubin BY.
    Mol Nutr Food Res; 2012 Apr 29; 56(4):570-9. PubMed ID: 22495984
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  • 13. Identification of the first non-Jewish mutation in familial Dysautonomia.
    Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA.
    Am J Med Genet A; 2003 May 01; 118A(4):305-8. PubMed ID: 12687659
    [Abstract] [Full Text] [Related]

  • 14. Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia.
    Anderson SL, Rubin BY.
    Biochem Biophys Res Commun; 2005 Oct 14; 336(1):150-6. PubMed ID: 16125677
    [Abstract] [Full Text] [Related]

  • 15. Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?
    Mezey E, Parmalee A, Szalayova I, Gill SP, Cuajungco MP, Leyne M, Slaugenhaupt SA, Brownstein MJ.
    Brain Res; 2003 Sep 05; 983(1-2):209-14. PubMed ID: 12914982
    [Abstract] [Full Text] [Related]

  • 16. Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.
    Sinha R, Kim YJ, Nomakuchi T, Sahashi K, Hua Y, Rigo F, Bennett CF, Krainer AR.
    Nucleic Acids Res; 2018 Jun 01; 46(10):4833-4844. PubMed ID: 29672717
    [Abstract] [Full Text] [Related]

  • 17. Cardiac glycosides correct aberrant splicing of IKBKAP-encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3.
    Liu B, Anderson SL, Qiu J, Rubin BY.
    FEBS J; 2013 Aug 01; 280(15):3632-46. PubMed ID: 23711097
    [Abstract] [Full Text] [Related]

  • 18. Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients.
    Yannai S, Zonszain J, Donyo M, Ast G.
    PLoS One; 2019 Aug 01; 14(3):e0211602. PubMed ID: 30889183
    [Abstract] [Full Text] [Related]

  • 19. Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
    Cuajungco MP, Leyne M, Mull J, Gill SP, Gusella JF, Slaugenhaupt SA.
    DNA Cell Biol; 2001 Sep 01; 20(9):579-86. PubMed ID: 11747609
    [Abstract] [Full Text] [Related]

  • 20. Familial dysautonomia.
    Slaugenhaupt SA, Gusella JF.
    Curr Opin Genet Dev; 2002 Jun 01; 12(3):307-11. PubMed ID: 12076674
    [Abstract] [Full Text] [Related]

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