BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

268 related articles for article (PubMed ID: 21483829)

  • 21. HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.
    Paulussen AD; Raes A; Jongbloed RJ; Gilissen RA; Wilde AA; Snyders DJ; Smeets HJ; Aerssens J
    Cardiovasc Res; 2005 Aug; 67(3):467-75. PubMed ID: 15958262
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Promise and Potential Peril With Lumacaftor for the Trafficking Defective Type 2 Long-QT Syndrome-Causative Variants, p.G604S, p.N633S, and p.R685P, Using Patient-Specific Re-Engineered Cardiomyocytes.
    O'Hare BJ; John Kim CS; Hamrick SK; Ye D; Tester DJ; Ackerman MJ
    Circ Genom Precis Med; 2020 Oct; 13(5):466-475. PubMed ID: 32940533
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.
    Gianulis EC; Trudeau MC
    J Biol Chem; 2011 Jun; 286(25):22160-9. PubMed ID: 21536673
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Trafficking-deficient hERG K⁺ channels linked to long QT syndrome are regulated by a microtubule-dependent quality control compartment in the ER.
    Smith JL; McBride CM; Nataraj PS; Bartos DC; January CT; Delisle BP
    Am J Physiol Cell Physiol; 2011 Jul; 301(1):C75-85. PubMed ID: 21490315
    [TBL] [Abstract][Full Text] [Related]  

  • 25. C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.
    Choe CU; Schulze-Bahr E; Neu A; Xu J; Zhu ZI; Sauter K; Bähring R; Priori S; Guicheney P; Mönnig G; Neapolitano C; Heidemann J; Clancy CE; Pongs O; Isbrandt D
    Hum Mol Genet; 2006 Oct; 15(19):2888-902. PubMed ID: 16923798
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Functional effects of a missense mutation in HERG associated with type 2 long QT syndrome.
    Amorós I; Jiménez-Jáimez J; Tercedor L; Barana A; Gómez R; de la Fuente MG; Dolz-Gaitón P; Alvarez M; Martínez-Espín E; Lorente JA; Melgares R; Tamargo J; Delpón E; Caballero R
    Heart Rhythm; 2011 Mar; 8(3):463-70. PubMed ID: 21109023
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Elucidation of
    Zhou W; Ye D; Tester DJ; Bains S; Giudicessi JR; Haglund-Turnquist CM; Orland KM; January CT; Eckhardt LL; Maginot KR; Ackerman MJ
    Circ Genom Precis Med; 2023 Apr; 16(2):e003726. PubMed ID: 37071726
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells.
    Huo J; Zhang Y; Huang N; Liu P; Huang C; Guo X; Jiang W; Zhou N; Grace A; Huang CL; Ma A
    Pflugers Arch; 2008 Aug; 456(5):917-28. PubMed ID: 18386051
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.
    Perry MD; Ng CA; Phan K; David E; Steer K; Hunter MJ; Mann SA; Imtiaz M; Hill AP; Ke Y; Vandenberg JI
    J Physiol; 2016 Jul; 594(14):4031-49. PubMed ID: 26958806
    [TBL] [Abstract][Full Text] [Related]  

  • 30. hERG 1a LQT2 C-terminus truncation mutants display hERG 1b-dependent dominant negative mechanisms.
    Puckerin A; Aromolaran KA; Chang DD; Zukin RS; Colecraft HM; Boutjdir M; Aromolaran AS
    Heart Rhythm; 2016 May; 13(5):1121-1130. PubMed ID: 26775140
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome.
    Grunnet M; Behr ER; Calloe K; Hofman-Bang J; Till J; Christiansen M; McKenna WJ; Olesen SP; Schmitt N
    Heart Rhythm; 2005 Nov; 2(11):1238-49. PubMed ID: 16253915
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the
    Smith JL; Tester DJ; Hall AR; Burgess DE; Hsu CC; Elayi SC; Anderson CL; January CT; Luo JZ; Hartzel DN; Mirshahi UL; Murray MF; Mirshahi T; Ackerman MJ; Delisle BP
    Circ Arrhythm Electrophysiol; 2018 May; 11(5):e005859. PubMed ID: 29752375
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Multiple splicing defects caused by hERG splice site mutation 2592+1G>A associated with long QT syndrome.
    Stump MR; Gong Q; Zhou Z
    Am J Physiol Heart Circ Physiol; 2011 Jan; 300(1):H312-8. PubMed ID: 21057041
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.
    Gong Q; Jones MA; Zhou Z
    J Biol Chem; 2006 Feb; 281(7):4069-74. PubMed ID: 16361248
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Identification and functional characterization of the human ether-a-go-go-related gene Q738X mutant associated with hereditary long QT syndrome type 2.
    Han SN; Yang SH; Zhang Y; Sun XY; Duan YY; Hu XJ; Fan TL; Huang CZ; Yang G; Zhang Z; Zhang L
    Int J Mol Med; 2014 Sep; 34(3):810-5. PubMed ID: 24993425
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutant hERG channel traffic jam. Focus on "Pharmacological correction of long QT-linked mutations in KCNH2 (hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum".
    Ayon RJ; Fernandez RA; Yuan JX
    Am J Physiol Cell Physiol; 2013 Nov; 305(9):C916-8. PubMed ID: 23986200
    [No Abstract]   [Full Text] [Related]  

  • 37. A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.
    Paulussen A; Raes A; Matthijs G; Snyders DJ; Cohen N; Aerssens J
    J Biol Chem; 2002 Dec; 277(50):48610-6. PubMed ID: 12354768
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Drug-induced long QT syndrome: hERG K+ channel block and disruption of protein trafficking by fluoxetine and norfluoxetine.
    Rajamani S; Eckhardt LL; Valdivia CR; Klemens CA; Gillman BM; Anderson CL; Holzem KM; Delisle BP; Anson BD; Makielski JC; January CT
    Br J Pharmacol; 2006 Nov; 149(5):481-9. PubMed ID: 16967046
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Properties of WT and mutant hERG K(+) channels expressed in neonatal mouse cardiomyocytes.
    Lin EC; Holzem KM; Anson BD; Moungey BM; Balijepalli SY; Tester DJ; Ackerman MJ; Delisle BP; Balijepalli RC; January CT
    Am J Physiol Heart Circ Physiol; 2010 Jun; 298(6):H1842-9. PubMed ID: 20363883
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Pharmacological rescue of trafficking defective HERG channels formed by coassembly of wild-type and long QT mutant N470D subunits.
    Gong Q; Anderson CL; January CT; Zhou Z
    Am J Physiol Heart Circ Physiol; 2004 Aug; 287(2):H652-8. PubMed ID: 15072950
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.