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 *

265 related articles for article (PubMed ID: 21483829)

  • 1. Trafficking defect and proteasomal degradation contribute to the phenotype of a novel KCNH2 long QT syndrome mutation.
    Mihic A; Chauhan VS; Gao X; Oudit GY; Tsushima RG
    PLoS One; 2011 Mar; 6(3):e18273. PubMed ID: 21483829
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pharmacological correction of long QT-linked mutations in KCNH2 (hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum.
    Smith JL; Reloj AR; Nataraj PS; Bartos DC; Schroder EA; Moss AJ; Ohno S; Horie M; Anderson CL; January CT; Delisle BP
    Am J Physiol Cell Physiol; 2013 Nov; 305(9):C919-30. PubMed ID: 23864605
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.
    Anderson CL; Delisle BP; Anson BD; Kilby JA; Will ML; Tester DJ; Gong Q; Zhou Z; Ackerman MJ; January CT
    Circulation; 2006 Jan; 113(3):365-73. PubMed ID: 16432067
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel intracellular transport-refractory mutations in KCNH2 identified in patients with symptomatic long QT syndrome.
    Fukumoto D; Ding WG; Wada Y; Fujii Y; Ichikawa M; Takayama K; Fukuyama M; Kato K; Itoh H; Makiyama T; Omatsu-Kanbe M; Matsuura H; Horie M; Ohno S
    J Cardiol; 2018 Apr; 71(4):401-408. PubMed ID: 29146210
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mechanism of loss of Kv11.1 K+ current in mutant T421M-Kv11.1-expressing rat ventricular myocytes: interaction of trafficking and gating.
    Balijepalli SY; Lim E; Concannon SP; Chew CL; Holzem KE; Tester DJ; Ackerman MJ; Delisle BP; Balijepalli RC; January CT
    Circulation; 2012 Dec; 126(24):2809-18. PubMed ID: 23136156
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mechanistic basis for type 2 long QT syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor.
    McBride CM; Smith AM; Smith JL; Reloj AR; Velasco EJ; Powell J; Elayi CS; Bartos DC; Burgess DE; Delisle BP
    J Membr Biol; 2013 May; 246(5):355-64. PubMed ID: 23546015
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome.
    Lian J; Huang N; Zhou J; Ge S; Huang X; Huo J; Liu L; Xu W; Zhang S; Yang X; Zhou J; Huang C
    Can J Cardiol; 2010 Oct; 26(8):417-22. PubMed ID: 20931094
    [TBL] [Abstract][Full Text] [Related]  

  • 8. HERG-F463L potassium channels linked to long QT syndrome reduce I(Kr) current by a trafficking-deficient mechanism.
    Yang HT; Sun CF; Cui CC; Xue XL; Zhang AF; Li HB; Wang DQ; Shu J
    Clin Exp Pharmacol Physiol; 2009 Aug; 36(8):822-7. PubMed ID: 19215240
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations.
    Ficker E; Obejero-Paz CA; Zhao S; Brown AM
    J Biol Chem; 2002 Feb; 277(7):4989-98. PubMed ID: 11741928
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rescue of expression and function of long QT syndrome-causing mutant hERG channels by enhancing channel stability in the plasma membrane.
    Davis J; Cornwell JD; Campagna N; Guo J; Li W; Yang T; Wang T; Zhang S
    J Biol Chem; 2024 Aug; 300(8):107526. PubMed ID: 38960041
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family.
    Kanters JK; Skibsbye L; Hedley PL; Dembic M; Liang B; Hagen CM; Eschen O; Grunnet M; Christiansen M; Jespersen T
    Scand J Clin Lab Invest; 2015; 75(8):699-709. PubMed ID: 26403377
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The proteostasis interactomes of trafficking-deficient variants of the voltage-gated potassium channel K
    Egly CL; Barny LA; Do T; McDonald EF; Knollmann BC; Plate L
    J Biol Chem; 2024 Jul; 300(7):107465. PubMed ID: 38876300
    [TBL] [Abstract][Full Text] [Related]  

  • 13. LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation.
    Stump MR; Gong Q; Zhou Z
    Am J Physiol Heart Circ Physiol; 2013 Nov; 305(9):H1397-404. PubMed ID: 23997099
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype.
    Krishnan Y; Zheng R; Walsh C; Tang Y; McDonald TV
    Pacing Clin Electrophysiol; 2012 Jan; 35(1):3-16. PubMed ID: 21951015
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional studies on three novel HCNH2 mutations in Taiwan: identification of distinct mechanisms of channel defect and dissociation between glycosylation defect and assembly defect.
    Hsueh CH; Chen WP; Lin JL; Liu YB; Su MJ; Lai LP
    Biochem Biophys Res Commun; 2008 Sep; 373(4):572-8. PubMed ID: 18593567
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome.
    Rossenbacker T; Mubagwa K; Jongbloed RJ; Vereecke J; Devriendt K; Gewillig M; Carmeliet E; Collen D; Heidbüchel H; Carmeliet P
    Circulation; 2005 Mar; 111(8):961-8. PubMed ID: 15699249
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation in KCNH2 yields loss-of-function of hERG potassium channel in long QT syndrome 2.
    Gu K; Qian D; Qin H; Cui C; Fernando WCHA; Wang D; Wang J; Cao K; Chen M
    Pflugers Arch; 2021 Feb; 473(2):219-229. PubMed ID: 33449212
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
    Hedley PL; Kanters JK; Dembic M; Jespersen T; Skibsbye L; Aidt FH; Eschen O; Graff C; Behr ER; Schlamowitz S; Corfield V; McKenna WJ; Christiansen M
    Circ Cardiovasc Genet; 2013 Oct; 6(5):452-61. PubMed ID: 24021552
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2.
    Cordeiro JM; Perez GJ; Schmitt N; Pfeiffer R; Nesterenko VV; Burashnikov E; Veltmann C; Borggrefe M; Wolpert C; Schimpf R; Antzelevitch C
    Can J Physiol Pharmacol; 2010 Dec; 88(12):1181-90. PubMed ID: 21164565
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of Kv11.1 isoform switch as a novel pathogenic mechanism of long-QT syndrome.
    Gong Q; Stump MR; Deng V; Zhang L; Zhou Z
    Circ Cardiovasc Genet; 2014 Aug; 7(4):482-90. PubMed ID: 25028483
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.