BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

382 related articles for article (PubMed ID: 20676041)

  • 1. Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia.
    Jiang D; Jones PP; Davis DR; Gow R; Green MS; Birnie DH; Chen SR; Gollob MH
    Channels (Austin); 2010; 4(4):302-10. PubMed ID: 20676041
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death.
    Jiang D; Wang R; Xiao B; Kong H; Hunt DJ; Choi P; Zhang L; Chen SR
    Circ Res; 2005 Nov; 97(11):1173-81. PubMed ID: 16239587
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Calcium leak through ryanodine receptors leads to atrial fibrillation in 3 mouse models of catecholaminergic polymorphic ventricular tachycardia.
    Shan J; Xie W; Betzenhauser M; Reiken S; Chen BX; Wronska A; Marks AR
    Circ Res; 2012 Aug; 111(6):708-17. PubMed ID: 22828895
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model.
    Liu N; Colombi B; Memmi M; Zissimopoulos S; Rizzi N; Negri S; Imbriani M; Napolitano C; Lai FA; Priori SG
    Circ Res; 2006 Aug; 99(3):292-8. PubMed ID: 16825580
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The CPVT-associated RyR2 mutation G230C enhances store overload-induced Ca2+ release and destabilizes the N-terminal domains.
    Liu Y; Kimlicka L; Hiess F; Tian X; Wang R; Zhang L; Jones PP; Van Petegem F; Chen SR
    Biochem J; 2013 Aug; 454(1):123-31. PubMed ID: 23746327
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.
    Wangüemert F; Bosch Calero C; Pérez C; Campuzano O; Beltran-Alvarez P; Scornik FS; Iglesias A; Berne P; Allegue C; Ruiz Hernandez PM; Brugada J; Pérez GJ; Brugada R
    Heart Rhythm; 2015 Jul; 12(7):1636-43. PubMed ID: 25814417
    [TBL] [Abstract][Full Text] [Related]  

  • 7. FKBPs facilitate the termination of spontaneous Ca2+ release in wild-type RyR2 but not CPVT mutant RyR2.
    Zhang JZ; Waddell HM; Wu E; Dholakia J; Okolo CA; McLay JC; Jones PP
    Biochem J; 2016 Jul; 473(14):2049-60. PubMed ID: 27154203
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Removal of FKBP12.6 does not alter the conductance and activation of the cardiac ryanodine receptor or the susceptibility to stress-induced ventricular arrhythmias.
    Xiao J; Tian X; Jones PP; Bolstad J; Kong H; Wang R; Zhang L; Duff HJ; Gillis AM; Fleischer S; Kotlikoff M; Copello JA; Chen SR
    J Biol Chem; 2007 Nov; 282(48):34828-38. PubMed ID: 17921453
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Co-Phenotype of Left Ventricular Non-Compaction Cardiomyopathy and Atypical Catecholaminergic Polymorphic Ventricular Tachycardia in Association With R169Q, a Ryanodine Receptor Type 2 Missense Mutation.
    Nozaki Y; Kato Y; Uike K; Yamamura K; Kikuchi M; Yasuda M; Ohno S; Horie M; Murayama T; Kurebayashi N; Horigome H
    Circ J; 2020 Jan; 84(2):226-234. PubMed ID: 31875585
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.
    Priori SG; Napolitano C; Memmi M; Colombi B; Drago F; Gasparini M; DeSimone L; Coltorti F; Bloise R; Keegan R; Cruz Filho FE; Vignati G; Benatar A; DeLogu A
    Circulation; 2002 Jul; 106(1):69-74. PubMed ID: 12093772
    [TBL] [Abstract][Full Text] [Related]  

  • 11. S4153R is a gain-of-function mutation in the cardiac Ca(2+) release channel ryanodine receptor associated with catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation.
    Zhabyeyev P; Hiess F; Wang R; Liu Y; Wayne Chen SR; Oudit GY
    Can J Cardiol; 2013 Aug; 29(8):993-6. PubMed ID: 23498838
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CPVT-associated cardiac ryanodine receptor mutation G357S with reduced penetrance impairs Ca2+ release termination and diminishes protein expression.
    Liu Y; Wei J; Wong King Yuen SM; Sun B; Tang Y; Wang R; Van Petegem F; Chen SRW
    PLoS One; 2017; 12(9):e0184177. PubMed ID: 28961276
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium.
    Meli AC; Refaat MM; Dura M; Reiken S; Wronska A; Wojciak J; Carroll J; Scheinman MM; Marks AR
    Circ Res; 2011 Jul; 109(3):281-90. PubMed ID: 21659649
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Reduced threshold for store overload-induced Ca
    Chen W; Koop A; Liu Y; Guo W; Wei J; Wang R; MacLennan DH; Dirksen RT; Chen SRW
    Biochem J; 2017 Aug; 474(16):2749-2761. PubMed ID: 28687594
    [TBL] [Abstract][Full Text] [Related]  

  • 15. RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR).
    Jiang D; Xiao B; Yang D; Wang R; Choi P; Zhang L; Cheng H; Chen SR
    Proc Natl Acad Sci U S A; 2004 Aug; 101(35):13062-7. PubMed ID: 15322274
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.
    van der Werf C; Nederend I; Hofman N; van Geloven N; Ebink C; Frohn-Mulder IM; Alings AM; Bosker HA; Bracke FA; van den Heuvel F; Waalewijn RA; Bikker H; van Tintelen JP; Bhuiyan ZA; van den Berg MP; Wilde AA
    Circ Arrhythm Electrophysiol; 2012 Aug; 5(4):748-56. PubMed ID: 22787013
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation in FKBP12.6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia.
    Aizawa Y; Ueda K; Komura S; Washizuka T; Chinushi M; Inagaki N; Matsumoto Y; Hayashi T; Takahashi M; Nakano N; Yasunami M; Kimura A; Hiraoka M; Aizawa Y
    Int J Cardiol; 2005 Mar; 99(2):343-5. PubMed ID: 15749201
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Na+-dependent SR Ca2+ overload induces arrhythmogenic events in mouse cardiomyocytes with a human CPVT mutation.
    Sedej S; Heinzel FR; Walther S; Dybkova N; Wakula P; Groborz J; Gronau P; Maier LS; Vos MA; Lai FA; Napolitano C; Priori SG; Kockskämper J; Pieske B
    Cardiovasc Res; 2010 Jul; 87(1):50-9. PubMed ID: 20080988
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor.
    Uchinoumi H; Yano M; Suetomi T; Ono M; Xu X; Tateishi H; Oda T; Okuda S; Doi M; Kobayashi S; Yamamoto T; Ikeda Y; Ohkusa T; Ikemoto N; Matsuzaki M
    Circ Res; 2010 Apr; 106(8):1413-24. PubMed ID: 20224043
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death.
    Zhong X; Guo W; Wei J; Tang Y; Liu Y; Zhang JZ; Tan VH; Zhang L; Wang R; Jones PP; Napolitano C; Priori SG; Chen SRW
    Biosci Rep; 2021 Apr; 41(4):. PubMed ID: 33825858
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.