These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 14500339)

  • 1. A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.
    Makielski JC; Ye B; Valdivia CR; Pagel MD; Pu J; Tester DJ; Ackerman MJ
    Circ Res; 2003 Oct; 93(9):821-8. PubMed ID: 14500339
    [TBL] [Abstract][Full Text] [Related]  

  • 2. SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.
    Cheng J; Morales A; Siegfried JD; Li D; Norton N; Song J; Gonzalez-Quintana J; Makielski JC; Hershberger RE
    Clin Transl Sci; 2010 Dec; 3(6):287-94. PubMed ID: 21167004
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine.
    Tan BH; Valdivia CR; Song C; Makielski JC
    Am J Physiol Heart Circ Physiol; 2006 Oct; 291(4):H1822-8. PubMed ID: 16632547
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants.
    Tan BH; Valdivia CR; Rok BA; Ye B; Ruwaldt KM; Tester DJ; Ackerman MJ; Makielski JC
    Heart Rhythm; 2005 Jul; 2(7):741-7. PubMed ID: 15992732
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R.
    Hu RM; Song EJ; Tester DJ; Deschenes I; Ackerman MJ; Makielski JC; Tan BH
    Channels (Austin); 2021 Dec; 15(1):253-261. PubMed ID: 33535892
    [No Abstract]   [Full Text] [Related]  

  • 6. Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.
    Tester DJ; Valdivia C; Harris-Kerr C; Alders M; Salisbury BA; Wilde AA; Makielski JC; Ackerman MJ
    Heart Rhythm; 2010 Jul; 7(7):912-9. PubMed ID: 20403459
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current.
    Cheng J; Tester DJ; Tan BH; Valdivia CR; Kroboth S; Ye B; January CT; Ackerman MJ; Makielski JC
    Physiol Genomics; 2011 May; 43(9):461-6. PubMed ID: 21385947
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.
    Ye B; Valdivia CR; Ackerman MJ; Makielski JC
    Physiol Genomics; 2003 Feb; 12(3):187-93. PubMed ID: 12454206
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.
    Saito YA; Strege PR; Tester DJ; Locke GR; Talley NJ; Bernard CE; Rae JL; Makielski JC; Ackerman MJ; Farrugia G
    Am J Physiol Gastrointest Liver Physiol; 2009 Feb; 296(2):G211-8. PubMed ID: 19056759
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y.
    Plant LD; Bowers PN; Liu Q; Morgan T; Zhang T; State MW; Chen W; Kittles RA; Goldstein SA
    J Clin Invest; 2006 Feb; 116(2):430-5. PubMed ID: 16453024
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.
    Shinlapawittayatorn K; Du XX; Liu H; Ficker E; Kaufman ES; Deschênes I
    Heart Rhythm; 2011 Mar; 8(3):455-62. PubMed ID: 21109022
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.
    Shinlapawittayatorn K; Dudash LA; Du XX; Heller L; Poelzing S; Ficker E; Deschênes I
    Circ Cardiovasc Genet; 2011 Oct; 4(5):500-9. PubMed ID: 21840964
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of four novel variants of Nav1.5/SCN5A cloned from the brain.
    Wang J; Ou SW; Wang YJ; Kameyama M; Kameyama A; Zong ZH
    Neurosci Res; 2009 Aug; 64(4):339-47. PubMed ID: 19376164
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.
    Hu RM; Tan BH; Tester DJ; Song C; He Y; Dovat S; Peterson BZ; Ackerman MJ; Makielski JC
    PLoS One; 2015; 10(4):e0124921. PubMed ID: 25923670
    [TBL] [Abstract][Full Text] [Related]  

  • 15. SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.
    Poelzing S; Forleo C; Samodell M; Dudash L; Sorrentino S; Anaclerio M; Troccoli R; Iacoviello M; Romito R; Guida P; Chahine M; Pitzalis M; Deschênes I
    Circulation; 2006 Aug; 114(5):368-76. PubMed ID: 16864729
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are encoded by new variants of Nav1.5/SCN5A.
    Ou SW; Kameyama A; Hao LY; Horiuchi M; Minobe E; Wang WY; Makita N; Kameyama M
    Eur J Neurosci; 2005 Aug; 22(4):793-801. PubMed ID: 16115203
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mouse heart Na+ channels: primary structure and function of two isoforms and alternatively spliced variants.
    Zimmer T; Bollensdorff C; Haufe V; Birch-Hirschfeld E; Benndorf K
    Am J Physiol Heart Circ Physiol; 2002 Mar; 282(3):H1007-17. PubMed ID: 11834499
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Alternative promoter usage and splicing of the human SCN5A gene contribute to transcript heterogeneity.
    van Stuijvenberg L; Yildirim C; Kok BG; van Veen TA; Varró A; Winckels SK; Vos MA; Bierhuizen MF
    DNA Cell Biol; 2010 Oct; 29(10):577-87. PubMed ID: 20618077
    [TBL] [Abstract][Full Text] [Related]  

  • 19. New variants of Nav1.5/SCN5A encode Na+ channels in the brain.
    Wang J; Ou SW; Wang YJ; Zong ZH; Lin L; Kameyama M; Kameyama A
    J Neurogenet; 2008; 22(1):57-75. PubMed ID: 18386309
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome.
    Makita N; Mochizuki N; Tsutsui H
    Circ J; 2008 Jun; 72(6):1018-9. PubMed ID: 18503232
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.