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 *

81 related articles for article (PubMed ID: 22309168)

  • 21. Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1.
    Heijman J; Spätjens RL; Seyen SR; Lentink V; Kuijpers HJ; Boulet IR; de Windt LJ; David M; Volders PG
    Circ Res; 2012 Jan; 110(2):211-9. PubMed ID: 22095730
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels W822X].
    Zhang JT; Huang J; Teng SY; Wang RR; Zhang YH; Pu JL; Hui RT; Zhang S
    Zhonghua Xin Xue Guan Bing Za Zhi; 2011 Mar; 39(3):238-41. PubMed ID: 21609529
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical and electrophysiological characterization of a novel mutation (F193L) in the KCNQ1 gene associated with long QT syndrome.
    Yamaguchi M; Shimizu M; Ino H; Terai H; Hayashi K; Mabuchi H; Hoshi N; Higashida H
    Clin Sci (Lond); 2003 Apr; 104(4):377-82. PubMed ID: 12653681
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome.
    Thomas D; Wimmer AB; Karle CA; Licka M; Alter M; Khalil M; Ulmer HE; Kathöfer S; Kiehn J; Katus HA; Schoels W; Koenen M; Zehelein J
    Cardiovasc Res; 2005 Aug; 67(3):487-97. PubMed ID: 15950200
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Action potential clamp and mefloquine sensitivity of recombinant 'I KS' channels incorporating the V307L KCNQ1 mutation.
    El Harchi A; McPate MJ; Zhang YH; Zhang H; Hancox JC
    J Physiol Pharmacol; 2010 Apr; 61(2):123-31. PubMed ID: 20436212
    [TBL] [Abstract][Full Text] [Related]  

  • 26. New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.
    Gouas L; Bellocq C; Berthet M; Potet F; Demolombe S; Forhan A; Lescasse R; Simon F; Balkau B; Denjoy I; Hainque B; Baró I; Guicheney P;
    Cardiovasc Res; 2004 Jul; 63(1):60-8. PubMed ID: 15194462
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [The mutation scanning of KCNQ1 gene for 31 long QT syndrome families].
    Li P; Li CL; Hu DY; Liu WL; Qin XG; Li YT; Li ZM; Li L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Jun; 21(3):236-9. PubMed ID: 15192825
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The novel C-terminal KCNQ1 mutation M520R alters protein trafficking.
    Schmitt N; Calloe K; Nielsen NH; Buschmann M; Speckmann EJ; Schulze-Bahr E; Schwarz M
    Biochem Biophys Res Commun; 2007 Jun; 358(1):304-10. PubMed ID: 17482572
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The role of abnormal trafficking of KCNE1 in long QT syndrome 5.
    Harmer SC; Tinker A
    Biochem Soc Trans; 2007 Nov; 35(Pt 5):1074-6. PubMed ID: 17956282
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.
    Ohno S; Toyoda F; Zankov DP; Yoshida H; Makiyama T; Tsuji K; Honda T; Obayashi K; Ueyama H; Shimizu W; Miyamoto Y; Kamakura S; Matsuura H; Kita T; Horie M
    Hum Mutat; 2009 Apr; 30(4):557-63. PubMed ID: 19306396
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.
    Jons C; Moss AJ; Lopes CM; McNitt S; Zareba W; Goldenberg I; Qi M; Wilde AA; Shimizu W; Kanters JK; Towbin JA; Ackerman MJ; Robinson JL
    J Cardiovasc Electrophysiol; 2009 Aug; 20(8):859-65. PubMed ID: 19490272
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Connecting KCNQ1 mutants with clinical outcome.
    Yan S; Wu G
    Clin Invest Med; 2009 Feb; 32(1):E28-33. PubMed ID: 19178876
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity.
    Baradaran-Heravi A; Niesser J; Balgi AD; Choi K; Zimmerman C; South AP; Anderson HJ; Strynadka NC; Bally MB; Roberge M
    Proc Natl Acad Sci U S A; 2017 Mar; 114(13):3479-3484. PubMed ID: 28289221
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Pharmaceutical therapies to recode nonsense mutations in inherited diseases.
    Lee HL; Dougherty JP
    Pharmacol Ther; 2012 Nov; 136(2):227-66. PubMed ID: 22820013
    [TBL] [Abstract][Full Text] [Related]  

  • 35. PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.
    Goldmann T; Overlack N; Wolfrum U; Nagel-Wolfrum K
    Hum Gene Ther; 2011 May; 22(5):537-47. PubMed ID: 21235327
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.
    Sánchez-Alcudia R; Pérez B; Ugarte M; Desviat LR
    Hum Mutat; 2012 Jun; 33(6):973-80. PubMed ID: 22334403
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124.
    Chen CC; Liao RY; Yeh FY; Lin YR; Wu TY; Pastor AE; Zul DD; Hsu YC; Wu KY; Liu KF; Kannagi R; Chen JY; Cai BH
    Biomedicines; 2023 Apr; 11(5):. PubMed ID: 37238980
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Variable readthrough responsiveness of nonsense mutations in hemophilia A.
    Martorell L; Cortina V; Parra R; Barquinero J; Vidal F
    Haematologica; 2020; 105(2):508-518. PubMed ID: 31197069
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mechanism and evidence of nonsense suppression therapy for genetic eye disorders.
    Richardson R; Smart M; Tracey-White D; Webster AR; Moosajee M
    Exp Eye Res; 2017 Feb; 155():24-37. PubMed ID: 28065590
    [TBL] [Abstract][Full Text] [Related]  

  • 40. PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation.
    Tan L; Narayan SB; Chen J; Meyers GD; Bennett MJ
    J Inherit Metab Dis; 2011 Apr; 34(2):443-7. PubMed ID: 21253826
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.