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Items: 1 to 20 of 283


The voltage-gated sodium channel EF-hands form an interaction with the III-IV linker that is disturbed by disease-causing mutations.

Gardill BR, Rivera-Acevedo RE, Tung CC, Okon M, McIntosh LP, Van Petegem F.

Sci Rep. 2018 Mar 14;8(1):4483. doi: 10.1038/s41598-018-22713-y.


Ion Channel Disorders and Sudden Cardiac Death.

Garcia-Elias A, Benito B.

Int J Mol Sci. 2018 Feb 28;19(3). pii: E692. doi: 10.3390/ijms19030692. Review.


SCN5A: the greatest HITS collection.

Park DS, Fishman GI.

J Clin Invest. 2018 Mar 1;128(3):913-915. doi: 10.1172/JCI99927. Epub 2018 Feb 19.


Syncope in patients with inherited arrhythmias.

Nakano Y, Wataru S.

J Arrhythm. 2017 Dec;33(6):572-578. doi: 10.1016/j.joa.2017.07.007. Epub 2017 Oct 6. Review.


Sequencing of uncertain significance.

Donahue JK.

J Cardiovasc Electrophysiol. 2018 Jan;29(1):105-106. doi: 10.1111/jce.13384. Epub 2017 Nov 23. No abstract available.


Distinct Cellular Basis for Early Cardiac Arrhythmias, the Cardinal Manifestation of Arrhythmogenic Cardiomyopathy, and the Skin Phenotype of Cardiocutaneous Syndromes.

Karmouch J, Zhou QQ, Miyake CY, Lombardi R, Kretzschmar K, Bannier-Hélaouët M, Clevers H, Wehrens XHT, Willerson JT, Marian AJ.

Circ Res. 2017 Dec 8;121(12):1346-1359. doi: 10.1161/CIRCRESAHA.117.311876. Epub 2017 Oct 10.


Depolarization of the conductance-voltage relationship in the NaV1.5 mutant, E1784K, is due to altered fast inactivation.

Peters CH, Yu A, Zhu W, Silva JR, Ruben PC.

PLoS One. 2017 Sep 12;12(9):e0184605. doi: 10.1371/journal.pone.0184605. eCollection 2017.


The effects of ageing and adrenergic challenge on electrocardiographic phenotypes in a murine model of long QT syndrome type 3.

Chadda KR, Ahmad S, Valli H, den Uijl I, Al-Hadithi AB, Salvage SC, Grace AA, Huang CL, Jeevaratnam K.

Sci Rep. 2017 Sep 11;7(1):11070. doi: 10.1038/s41598-017-11210-3.


Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies.

Magi S, Lariccia V, Maiolino M, Amoroso S, Gratteri S.

J Biomed Sci. 2017 Aug 15;24(1):56. doi: 10.1186/s12929-017-0364-6. Review.


Big Data and Genome Editing Technology: A New Paradigm of Cardiovascular Genomics.

Krittanawong C, Sun T, Herzog E.

Curr Cardiol Rev. 2017;13(4):301-304. doi: 10.2174/1573403X13666170804152432. Review.


Double jeopardy: long QT3 and Brugada syndromes.

Sandhu A, Borne RT, Mam C, Bunch TJ, Aleong RG.

Clin Case Rep. 2017 Jun 30;5(8):1315-1319. doi: 10.1002/ccr3.1064. eCollection 2017 Aug.


Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity.

Leong IUS, Dryland PA, Prosser DO, Lai SW, Graham M, Stiles M, Crawford J, Skinner JR, Love DR.

J Clin Med Res. 2017 Aug;9(8):709-718. doi: 10.14740/jocmr2894w. Epub 2017 Jul 1.


Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation.

Boutilier JK, Taylor RL, Mann T, McNamara E, Hoffman GJ, Kenny J, Dilley RJ, Henry P, Morahan G, Laing NG, Nowak KJ.

G3 (Bethesda). 2017 Sep 7;7(9):2999-3017. doi: 10.1534/g3.117.044651.


Therapeutic Strategies Targeting Inherited Cardiomyopathies.

Varian K, Tang WHW.

Curr Heart Fail Rep. 2017 Aug;14(4):321-330. doi: 10.1007/s11897-017-0346-8. Review.


An Isoform of Nedd4-2 Plays a Pivotal Role in Electrophysiological Cardiac Abnormalities.

Minegishi S, Ishigami T, Kawamura H, Kino T, Chen L, Nakashima-Sasaki R, Doi H, Azushima K, Wakui H, Chiba Y, Tamura K.

Int J Mol Sci. 2017 Jun 14;18(6). pii: E1268. doi: 10.3390/ijms18061268.


Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Giacomelli E, Mummery CL, Bellin M.

Cell Mol Life Sci. 2017 Oct;74(20):3711-3739. doi: 10.1007/s00018-017-2546-5. Epub 2017 Jun 1. Review.


Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.

Abou Ziki MD, Seidelmann SB, Smith E, Atteya G, Jiang Y, Fernandes RG, Marieb MA, Akar JG, Mani A.

Clin Genet. 2018 Apr;93(4):741-751. doi: 10.1111/cge.13036. Epub 2017 May 18.


Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances.

Fernández-Falgueras A, Sarquella-Brugada G, Brugada J, Brugada R, Campuzano O.

Biology (Basel). 2017 Jan 29;6(1). pii: E7. doi: 10.3390/biology6010007. Review.


Calmodulin limits pathogenic Na+ channel persistent current.

Yan H, Wang C, Marx SO, Pitt GS.

J Gen Physiol. 2017 Feb;149(2):277-293. doi: 10.1085/jgp.201611721. Epub 2017 Jan 13.


Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.

Thongnak C, Limprasert P, Tangviriyapaiboon D, Silvilairat S, Puangpetch A, Pasomsub E, Sukasem C, Chantratita W.

Dis Markers. 2016;2016:3684965. doi: 10.1155/2016/3684965. Epub 2016 Nov 28.

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