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 *

138 related articles for article (PubMed ID: 38086455)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome.
    Liu L; Hayashi K; Kaneda T; Ino H; Fujino N; Uchiyama K; Konno T; Tsuda T; Kawashiri MA; Ueda K; Higashikata T; Shuai W; Kupershmidt S; Higashida H; Yamagishi M
    Heart Rhythm; 2013 Jan; 10(1):61-7. PubMed ID: 23010577
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Long QT syndrome-associated mutations in intrauterine fetal death.
    Crotti L; Tester DJ; White WM; Bartos DC; Insolia R; Besana A; Kunic JD; Will ML; Velasco EJ; Bair JJ; Ghidoni A; Cetin I; Van Dyke DL; Wick MJ; Brost B; Delisle BP; Facchinetti F; George AL; Schwartz PJ; Ackerman MJ
    JAMA; 2013 Apr; 309(14):1473-82. PubMed ID: 23571586
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome.
    Yamaguchi M; Shimizu M; Ino H; Terai H; Hayashi K; Kaneda T; Mabuchi H; Sumita R; Oshima T; Hoshi N; Higashida H
    Clin Sci (Lond); 2005 Feb; 108(2):143-50. PubMed ID: 15500450
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning.
    Immadisetty K; Fang X; Ramon GS; Hartle CM; McCoy TP; Center RG; Mirshahi T; Delisle BP; Kekenes-Huskey PM
    J Mol Cell Cardiol; 2023 Jul; 180():69-83. PubMed ID: 37187232
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death.
    Zhang Y; Zhou N; Jiang W; Peng J; Wan H; Huang C; Xie Z; Huang CL; Grace AA; Ma A
    Eur J Pediatr; 2007 Sep; 166(9):927-33. PubMed ID: 17171344
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns.
    Piippo K; Laitinen P; Swan H; Toivonen L; Viitasalo M; Pasternack M; Paavonen K; Chapman H; Wann KT; Hirvelä E; Sajantila A; Kontula K
    J Am Coll Cardiol; 2000 Jun; 35(7):1919-25. PubMed ID: 10841244
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ANK2 functionally interacts with KCNH2 aggravating long QT syndrome in a double mutation carrier.
    Gessner G; Runge S; Koenen M; Heinemann SH; Koenen M; Haas J; Meder B; Thomas D; Katus HA; Schweizer PA
    Biochem Biophys Res Commun; 2019 May; 512(4):845-851. PubMed ID: 30929919
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation.
    Schweigmann U; Biliczki P; Ramirez RJ; Marschall C; Takac I; Brandes RP; Kotzot D; Girmatsion Z; Hohnloser SH; Ehrlich JR
    PLoS One; 2014; 9(8):e103150. PubMed ID: 25140878
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.
    Mechakra A; Vincent Y; Chevalier P; Millat G; Ficker E; Jastrzebski M; Poulin H; Pouliot V; Chahine M; Christé G
    Gene; 2014 Feb; 536(2):348-56. PubMed ID: 24334129
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.