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Quoted phrase not found in phrase index: "Short QT syndrome type 2"
Page 1
HERG1 channelopathies.
Sanguinetti MC. Sanguinetti MC. Pflugers Arch. 2010 Jul;460(2):265-76. doi: 10.1007/s00424-009-0758-8. Epub 2009 Nov 22. Pflugers Arch. 2010. PMID: 20544339 Free PMC article. Review.
Human ether a go-go-related gene type 1 (hERG1) K+ channels conduct the rapid delayed rectifier K+ current and mediate action potential repolarization in the heart. ...A single gain-of-function mutation has been described that causes short QT syndrome …
Human ether a go-go-related gene type 1 (hERG1) K+ channels conduct the rapid delayed rectifier K+ current and mediate action potenti …
Phenotypic manifestations of mutations in genes encoding subunits of cardiac potassium channels.
Shimizu W, Horie M. Shimizu W, et al. Circ Res. 2011 Jun 24;109(1):97-109. doi: 10.1161/CIRCRESAHA.110.224600. Circ Res. 2011. PMID: 21700951 Review.
Since 1995, when a potassium channel gene, hERG (human ether-a-go-go-related gene), now referred to as KCNH2, encoding the rapid component of cardiac delayed rectifier potassium channels was identified as being responsible for type 2 congenital long-QT syndrome, a n …
Since 1995, when a potassium channel gene, hERG (human ether-a-go-go-related gene), now referred to as KCNH2, encoding the rapid component o …
Inherited calcium channelopathies in the pathophysiology of arrhythmias.
Venetucci L, Denegri M, Napolitano C, Priori SG. Venetucci L, et al. Nat Rev Cardiol. 2012 Oct;9(10):561-75. doi: 10.1038/nrcardio.2012.93. Epub 2012 Jun 26. Nat Rev Cardiol. 2012. PMID: 22733215 Review.
Firstly, we discuss mutations in the genes encoding the ryanodine receptor 2 (RYR2) and calsequestrin 2 (CASQ2). These proteins are pivotal to the regulation of calcium release from the sarcoplasmic reticulum, and mutations can cause CPVT. Secondly, we review defect …
Firstly, we discuss mutations in the genes encoding the ryanodine receptor 2 (RYR2) and calsequestrin 2 (CASQ2). These protein …
Impaired Adrenergic/Protein Kinase A Response of Slow Delayed Rectifier Potassium Channels as a Long QT Syndrome Motif: Importance and Unknowns.
Policarová M, Novotný T, Bébarová M. Policarová M, et al. Can J Cardiol. 2019 Apr;35(4):511-522. doi: 10.1016/j.cjca.2018.11.012. Epub 2018 Nov 24. Can J Cardiol. 2019. PMID: 30935642 Review.
These mutations are associated with several subtypes of inherited arrhythmias, mainly long QT syndrome type 1, less commonly short QT syndrome type 2, and atrial fibrillation. The impaired PKA reactivity of I(Ks) channels may significantl …
These mutations are associated with several subtypes of inherited arrhythmias, mainly long QT syndrome type 1, less commonly short …
The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.
Hu D, Li Y, Zhang J, Pfeiffer R, Gollob MH, Healey J, Harrell DT, Makita N, Abe H, Sun Y, Guo J, Zhang L, Yan G, Mah D, Walsh EP, Leopold HB, Giustetto C, Gaita F, Zienciuk-Krajka A, Mazzanti A, Priori SG, Antzelevitch C, Barajas-Martinez H. Hu D, et al. JACC Clin Electrophysiol. 2017 Jul;3(7):727-743. doi: 10.1016/j.jacep.2016.11.013. Epub 2017 Feb 1. JACC Clin Electrophysiol. 2017. PMID: 29759541 Free article.
OBJECTIVES: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short QT syndrome (SQTS). BACKGROUND: SQTS is a rare channelopathy associated with a high risk of life-threatening arrhythmias a …
OBJECTIVES: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short …
Induced ion currents and the endothelin pathway as targets for anti-arrhythmic agents.
Dai DZ, Dai Y. Dai DZ, et al. Curr Opin Investig Drugs. 2008 Sep;9(9):1001-8. Curr Opin Investig Drugs. 2008. PMID: 18729007 Review.
Advances in the understanding of abnormalities of ion channels in the myocardium caused by congenital defects or by a failing heart and cardiomyopathy offer further insights into the relationship between channelopathy and SCD. Enhanced L-type Ca2+ current (ICa.L) activity …
Advances in the understanding of abnormalities of ion channels in the myocardium caused by congenital defects or by a failing heart and card …
The genetic basis of Brugada syndrome: a mutation update.
Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M. Hedley PL, et al. Hum Mutat. 2009 Sep;30(9):1256-66. doi: 10.1002/humu.21066. Hum Mutat. 2009. PMID: 19606473 Review.
A few mutations have been described in GPD1L, which encodes glycerol-3-phosphate dehydrogenase-1 like protein; CACNA1C, which encodes the alpha-subunit of the Ca(v)1.2 ion channel conducting the depolarizing I(L,Ca) current; CACNB2, which encodes the stimulating beta2-subu …
A few mutations have been described in GPD1L, which encodes glycerol-3-phosphate dehydrogenase-1 like protein; CACNA1C, which encodes the al …
An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.
Blancard M, Debbiche A, Kato K, Cardin C, Sabrina G, Gandjbakhch E, Probst V, Haissaguerre M, Extramiana F, Hocini M, Olivier G, Leenhardt A, Guicheney P, Rougier JS. Blancard M, et al. Sci Rep. 2018 Oct 2;8(1):14619. doi: 10.1038/s41598-018-32867-4. Sci Rep. 2018. PMID: 30279520 Free PMC article.
Calcium regulation plays a central role in cardiac function. Several variants in the calcium channel Ca(v)1.2 have been implicated in arrhythmic syndromes. We screened patients with Brugada syndrome, short QT syndrome, early repolarisation syndrome, an …
Calcium regulation plays a central role in cardiac function. Several variants in the calcium channel Ca(v)1.2 have been implicated in …
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.
Ambrosini E, Sicca F, Brignone MS, D'Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M. Ambrosini E, et al. Hum Mol Genet. 2014 Sep 15;23(18):4875-86. doi: 10.1093/hmg/ddu201. Epub 2014 May 2. Hum Mol Genet. 2014. PMID: 24794859 Free PMC article.
Genetic screening identified a novel KCNJ2 variant in Kir2.1 that (i) enhanced the channel's surface expression and stability at the plasma membrane, (ii) reduced protein ubiquitylation and degradation, (iii) altered protein compartmentalization in lipid rafts by targeting more c …
Genetic screening identified a novel KCNJ2 variant in Kir2.1 that (i) enhanced the channel's surface expression and stability at the plasma …
16 results