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 *

277 related articles for article (PubMed ID: 32759882)

  • 1. Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2
    Ono M; Burgess DE; Schroder EA; Elayi CS; Anderson CL; January CT; Sun B; Immadisetty K; Kekenes-Huskey PM; Delisle BP
    Biomolecules; 2020 Aug; 10(8):. PubMed ID: 32759882
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Molecular pathogenesis of long QT syndrome type 2.
    Smith JL; Anderson CL; Burgess DE; Elayi CS; January CT; Delisle BP
    J Arrhythm; 2016 Oct; 32(5):373-380. PubMed ID: 27761161
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. The KCNH2-IVS9-28A/G mutation causes aberrant isoform expression and hERG trafficking defect in cardiomyocytes derived from patients affected by Long QT Syndrome type 2.
    Mura M; Mehta A; Ramachandra CJ; Zappatore R; Pisano F; Ciuffreda MC; Barbaccia V; Crotti L; Schwartz PJ; Shim W; Gnecchi M
    Int J Cardiol; 2017 Aug; 240():367-371. PubMed ID: 28433559
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.
    Park NK; Park SJ; Park YG; Moon SH; Woo J; Kim HJ; Kim SJ; Choi SW
    Hum Mol Genet; 2024 Jan; 33(2):110-121. PubMed ID: 37769355
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant.
    Tobert KE; Tester DJ; Zhou W; Haglund-Turnquist CM; Giudicessi JR; Ackerman MJ
    Heart Rhythm; 2022 Jun; 19(6):998-1007. PubMed ID: 35144019
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel K
    Kozek KA; Glazer AM; Ng CA; Blackwell D; Egly CL; Vanags LR; Blair M; Mitchell D; Matreyek KA; Fowler DM; Knollmann BC; Vandenberg JI; Roden DM; Kroncke BM
    Heart Rhythm; 2020 Dec; 17(12):2180-2189. PubMed ID: 32522694
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Patients With Long-QT Syndrome Caused by Impaired
    Hyltén-Cavallius L; Iepsen EW; Wewer Albrechtsen NJ; Svendstrup M; Lubberding AF; Hartmann B; Jespersen T; Linneberg A; Christiansen M; Vestergaard H; Pedersen O; Holst JJ; Kanters JK; Hansen T; Torekov SS
    Circulation; 2017 May; 135(18):1705-1719. PubMed ID: 28235848
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Tbx20 controls the expression of the KCNH2 gene and of hERG channels.
    Caballero R; Utrilla RG; Amorós I; Matamoros M; Pérez-Hernández M; Tinaquero D; Alfayate S; Nieto-Marín P; Guerrero-Serna G; Liu QH; Ramos-Mondragón R; Ponce-Balbuena D; Herron T; Campbell KF; Filgueiras-Rama D; Peinado R; López-Sendón JL; Jalife J; Delpón E; Tamargo J
    Proc Natl Acad Sci U S A; 2017 Jan; 114(3):E416-E425. PubMed ID: 28049825
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome.
    Delinière A; Jaupart L; Janin A; Millat G; Boulin T; Andrini O; Chevalier P
    Gene; 2024 Mar; 897():148076. PubMed ID: 38086455
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A High-Throughput Screening Assay to Identify Drugs that Can Treat Long QT Syndrome Caused by Trafficking-Deficient K
    Egly CL; Blackwell DJ; Schmeckpeper J; Delisle BP; Weaver CD; Knollmann BC
    Mol Pharmacol; 2022 Apr; 101(4):236-245. PubMed ID: 35125346
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Intragenic suppression of trafficking-defective KCNH2 channels associated with long QT syndrome.
    Delisle BP; Slind JK; Kilby JA; Anderson CL; Anson BD; Balijepalli RC; Tester DJ; Ackerman MJ; Kamp TJ; January CT
    Mol Pharmacol; 2005 Jul; 68(1):233-40. PubMed ID: 15851652
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome.
    Mondéjar-Parreño G; Jahng JWS; Belbachir N; Wu BC; Zhang X; Perez MV; Badhwar N; Wu JC
    Stem Cell Res; 2021 Jul; 54():102402. PubMed ID: 34051449
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Disruption of protein quality control of the human ether-à-go-go related gene K
    Ledford HA; Ren L; Thai PN; Park S; Timofeyev V; Sirish P; Xu W; Emigh AM; Priest JR; Perez MV; Ashley EA; Yarov-Yarovoy V; Yamoah EN; Zhang XD; Chiamvimonvat N
    Heart Rhythm; 2022 Feb; 19(2):281-292. PubMed ID: 34634443
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.