Makielski, Jonathan C.

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Journal Article

Cheng, Jianding; Van Norstrand, David W.; Medeiros Domingo, Argelia; Tester, David J.; Valdivia, Carmen R.; Tan, Bi-Hua; Vatta, Matteo; Makielski, Jonathan C.; Ackerman, Michael J. (2011). LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype. Cardiogenetics, 1(1) PAGEPress

Tester, David J.; Tan, Bi-Hua; Medeiros Domingo, Argelia; Song, Chunhua; Makielski, Jonathan C.; Ackerman, Michael J. (2011). Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome. Circulation - cardiovascular genetics, 4(5), pp. 510-515. Lippincott Williams & Wilkins 10.1161/CIRCGENETICS.111.960195

Valdivia, Carmen R.; Medeiros Domingo, Argelia; Ye, Bin; Shen, Win-Kuang; Algiers, Timothy J.; Ackerman, Michael J.; Makielski, Jonathan C. (2010). Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation. Cardiovascular research, 86(3), pp. 392-400. Oxford University Press 10.1093/cvr/cvp417

Tan, Bi-Hua; Pundi, Kavitha N.; Van Norstrand, David W; Valdivia, Carmen R.; Tester, David J.; Medeiros Domingo, Argelia; Makielski, Jonathan C.; Ackerman, Michael J. (2010). Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. Heart rhythm, 7(6), pp. 771-778. Elsevier 10.1016/j.hrthm.2010.01.032

Cheng, Jianding; Van Norstrand, David W.; Medeiros Domingo, Argelia; Valdivia, Carmen; Tan, Bi-hua; Ye, Bin; Kroboth, Stacie; Vatta, Matteo; Tester, David J.; January, Craig T.; Makielski, Jonathan C.; Ackerman, Michael J. (2009). Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. Circulation. Arrhythmia and electrophysiology, 2(6), pp. 667-676. Lippincott Williams & Wilkins 10.1161/CIRCEP.109.891440

Medeiros Domingo, Argelia; Tan, Bi-Hua; Iturralde-Torres, Pedro; Tester, David J.; Tusié-Luna, Teresa; Makielski, Jonathan C.; Ackerman, Michael J. (2009). Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A. Heart rhythm, 6(8), pp. 1170-1175. Elsevier 10.1016/j.hrthm.2009.04.034

Ueda, Kazuo; Valdivia, Carmen; Medeiros Domingo, Argelia; Tester, David J.; Vatta, Matteo; Farrugia, Gianrico; Ackerman, Michael J.; Makielski, Jonathan C. (2008). Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 105(27), pp. 9355-9360. National Academy of Sciences NAS 10.1073/pnas.0801294105

Tan, Bi-Hua; Iturralde-Torres, Pedro; Medeiros Domingo, Argelia; Nava, Santiago; Tester, David J.; Valdivia, Carmen R.; Tusié-Luna, Teresa; Ackerman, Michael J.; Makielski, Jonathan C. (2007). A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia. Cardiovascular research, 76(3), pp. 409-417. Oxford University Press 10.1016/j.cardiores.2007.08.006

Medeiros Domingo, Argelia; Kaku, Toshihiko; Tester, David J; Iturralde-Torres, Pedro; Itty, Ajit; Ye, Bin; Valdivia, Carmen; Ueda, Kazuo; Canizales-Quinteros, Samuel; Tusié-Luna, Maria Teresa; Makielski, Jonathan C.; Ackerman, Michael J. (2007). SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation, 116(2), pp. 134-142. Lippincott Williams & Wilkins 10.1161/CIRCULATIONAHA.106.659086

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