273 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]
