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 *

223 related articles for article (PubMed ID: 34505893)

  • 1. Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.
    Schwartz PJ; Moreno C; Kotta MC; Pedrazzini M; Crotti L; Dagradi F; Castelletti S; Haugaa KH; Denjoy I; Shkolnikova MA; Brink PA; Heradien MJ; Seyen SRM; Spätjens RLHMG; Spazzolini C; Volders PGA
    Eur Heart J; 2021 Dec; 42(46):4743-4755. PubMed ID: 34505893
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1.
    Heijman J; Spätjens RL; Seyen SR; Lentink V; Kuijpers HJ; Boulet IR; de Windt LJ; David M; Volders PG
    Circ Res; 2012 Jan; 110(2):211-9. PubMed ID: 22095730
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.
    Crotti L; Spazzolini C; Schwartz PJ; Shimizu W; Denjoy I; Schulze-Bahr E; Zaklyazminskaya EV; Swan H; Ackerman MJ; Moss AJ; Wilde AA; Horie M; Brink PA; Insolia R; De Ferrari GM; Crimi G
    Circulation; 2007 Nov; 116(21):2366-75. PubMed ID: 17984373
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.
    Bartos DC; Giudicessi JR; Tester DJ; Ackerman MJ; Ohno S; Horie M; Gollob MH; Burgess DE; Delisle BP
    Heart Rhythm; 2014 Mar; 11(3):459-68. PubMed ID: 24269949
    [TBL] [Abstract][Full Text] [Related]  

  • 5. PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.
    Matavel A; Medei E; Lopes CM
    Channels (Austin); 2010; 4(1):3-11. PubMed ID: 19934648
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Long-QT mutation p.K557E-Kv7.1: dominant-negative suppression of IKs, but preserved cAMP-dependent up-regulation.
    Spätjens RL; Bébarová M; Seyen SR; Lentink V; Jongbloed RJ; Arens YH; Heijman J; Volders PG
    Cardiovasc Res; 2014 Oct; 104(1):216-25. PubMed ID: 25139741
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization of a novel KCNQ1 mutation for type 1 long QT syndrome and assessment of the therapeutic potential of a novel IKs activator using patient-specific induced pluripotent stem cell-derived cardiomyocytes.
    Ma D; Wei H; Lu J; Huang D; Liu Z; Loh LJ; Islam O; Liew R; Shim W; Cook SA
    Stem Cell Res Ther; 2015 Mar; 6(1):39. PubMed ID: 25889101
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.
    Morgat C; Fressart V; Porretta AP; Neyroud N; Messali A; Temmar Y; Algalarrondo V; Surget E; Bloch A; Leenhardt A; Denjoy I; Extramiana F
    Europace; 2024 Jun; 26(6):. PubMed ID: 38825991
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness.
    Oertli A; Rinné S; Moss R; Kääb S; Seemann G; Beckmann BM; Decher N
    Int J Mol Sci; 2021 Jan; 22(3):. PubMed ID: 33498651
    [No Abstract]   [Full Text] [Related]  

  • 10. Does pregnancy increase cardiac risk for LQT1 patients with the KCNQ1-A341V mutation?
    Heradien MJ; Goosen A; Crotti L; Durrheim G; Corfield V; Brink PA; Schwartz PJ
    J Am Coll Cardiol; 2006 Oct; 48(7):1410-5. PubMed ID: 17010804
    [TBL] [Abstract][Full Text] [Related]  

  • 11. LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms.
    Aromolaran AS; Subramanyam P; Chang DD; Kobertz WR; Colecraft HM
    Cardiovasc Res; 2014 Dec; 104(3):501-11. PubMed ID: 25344363
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.
    Brink PA; Crotti L; Corfield V; Goosen A; Durrheim G; Hedley P; Heradien M; Geldenhuys G; Vanoli E; Bacchini S; Spazzolini C; Lundquist AL; Roden DM; George AL; Schwartz PJ
    Circulation; 2005 Oct; 112(17):2602-10. PubMed ID: 16246960
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Analysis of the KCNQ1 gene mutation in 2 families with congenital long QT syndrome type 1 in Xinjiang Uygur Autonomous Region].
    Li YD; Maimaitiabudula M; Zhou XH; Lu YM; Zhang JH; Xing Q; Tang BP
    Zhonghua Xin Xue Guan Bing Za Zhi; 2018 Nov; 46(11):868-873. PubMed ID: 30462975
    [No Abstract]   [Full Text] [Related]  

  • 14. Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.
    Harmer SC; Mohal JS; Royal AA; McKenna WJ; Lambiase PD; Tinker A
    Biochem J; 2014 Aug; 462(1):133-42. PubMed ID: 24912595
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?
    Crotti L; Lahtinen AM; Spazzolini C; Mastantuono E; Monti MC; Morassutto C; Parati G; Heradien M; Goosen A; Lichtner P; Meitinger T; Brink PA; Kontula K; Swan H; Schwartz PJ
    Circ Cardiovasc Genet; 2016 Aug; 9(4):330-9. PubMed ID: 27531917
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome.
    Zehelein J; Thomas D; Khalil M; Wimmer AB; Koenen M; Licka M; Wu K; Kiehn J; Brockmeier K; Kreye VA; Karle CA; Katus HA; Ulmer HE; Schoels W
    Biochim Biophys Acta; 2004 Nov; 1690(3):185-92. PubMed ID: 15511625
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.
    Koponen M; Havulinna AS; Marjamaa A; Tuiskula AM; Salomaa V; Laitinen-Forsblom PJ; Piippo K; Toivonen L; Kontula K; Viitasalo M; Swan H
    BMC Med Genet; 2018 Apr; 19(1):56. PubMed ID: 29622001
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit.
    Mikuni I; Torres CG; Bienengraeber MW; Kwok WM
    Biochim Biophys Acta; 2011 Dec; 1810(12):1285-93. PubMed ID: 21854832
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Common Mutation of Long QT Syndrome Type 1 in Japan.
    Itoh H; Dochi K; Shimizu W; Denjoy I; Ohno S; Aiba T; Kimura H; Kato K; Fukuyama M; Hasagawa K; Schulze-Bahr E; Guicheney P; Horie M
    Circ J; 2015; 79(9):2026-30. PubMed ID: 26118460
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1.
    Eldstrom J; Wang Z; Werry D; Wong N; Fedida D
    Heart Rhythm; 2015 Feb; 12(2):386-94. PubMed ID: 25444851
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.