Results 121 to 130 of about 10,273 (224)

Polyunsaturated fatty acids modify the gating of Kv channels [PDF]

, 2012
Polyunsaturated fatty acids (PUFAs) have been reported to exhibit antiarrhythmic properties, which are attributed to their capability to modulate ion channels.
Cruz, Alicia de la, Macías, Álvaro, Moreno, Cristina, Prieto, Ángela, Valenzuela, Carmen   +4 more
core   +2 more sources

Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo

Arquivos Brasileiros de Cardiologia, 2011
FUNDAMENTO: A síndrome do QT longo (SQTL) é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa ...
Ernesto Curty, Fernando Eugênio dos Santos Cruz, Fabiane Santos Lima, Jorge Luiz Albuquerque Coutinho, Rosane Silva, Turán Peter Ürményi, Antônio Carlos Campos Carvalho, Edson Rondinelli   +7 more
doaj  

Synonymous nucleotide modification of the KCNH2 gene affects both mRNA characteristics and translation of the encoded hERG ion channel [PDF]

, 2018
Alexander C. Bertalovitz, Marika L. Osterbur Badhey, Thomas V. McDonald   +2 more
openalex   +1 more source

Abstract 11857: Benchmarking a Functional Assay to Assist Clinical Classification of Variants of Uncertain Significance in KCNH2 (Long QT Syndrome Type 2)

, 2021
Connie Jiang, Jessica Farr, Adam P. Hill, Brett M. Kroncke, Jodie Ingles, Jamie I. Vandenberg, Chai‐Ann Ng   +6 more
openalex   +2 more sources

Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model [PDF]

, 2020
Aulia Khamas Heikhmakhtiar, Abebe Tekle Abrha, Da Un Jeong, Ki Moo Lim   +3 more
openalex   +1 more source

Genotype and clinical characteristics of congenital long QT syndrome in Thailand

Indian Pacing and Electrophysiology Journal, 2018
Background: Congenital long QT syndrome (LQTS) is an inheritable arrhythmic disorder which is linked to at least 17 genes. The clinical characteristics and genetic mutations may be variable among different population groups and they have not yet been ...
Ankavipar Saprungruang, Apichai Khongphatthanayothin, John Mauleekoonphairoj, Pharawee Wandee, Supaluck Kanjanauthai, Zahurul A. Bhuiyan, Arthur A.M. Wilde, Yong Poovorawan   +7 more
doaj   +1 more source

Síndrome de QT largo: Nueva mutación en el gen KCNH2

Iatreia, 2010
Se presenta el caso de un paciente masculino de 10 años, con cuadro clínico y electrocardiográfico concordante con síndrome de QT largo, en quien se realizó secuenciación de los genes KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), KCNE2 (LQT6 ...
Luis Arturo Lizcano Gil, Karina Mancera
doaj  

Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation

Stem Cell Research
Long QT syndrome type 2 (LQT2) is a heart disorder resulting from a loss-of-function mutation in the KCNH2 gene that causes loss of Kv11.1 channel function, potentially resulting in syncope, arrhythmias, and sudden death.
Dasom Mun, Ji-Young Kang, Malgeum Park, Gyeongseo Yoo, Hyoeun Kim, Nuri Yun, You Mi Hwang, Boyoung Joung   +7 more
doaj   +1 more source

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6) [PDF]

, 2017
Aims Short QT syndrome (SQTS) is a genetically determined ion-channel disorder, which may cause malignant tachyarrhythmias and sudden cardiac death. Thus far, mutations in five different genes encoding potassium and calcium channel subunits have been ...
Abriel, Hugues, Albesa, Maxime, Antzelevitch, Charles, Barajas-Martinez, Héctor, Baumer, Alessandra, Duru, Firat, Ghadri, Jelena-Rima, Hu, Dan, Kaplan, Vladimir, Lüscher, Thomas F., Puleo, Colleen, Rauch, Anita, Rougier, Jean-Sébastien, Sticht, Heinrich, Templin, Christian   +14 more
core  

Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C)

Stem Cell Research
Long QT syndrome type 2 (LQT2), caused by mutations in the KCNH2 gene, is an inherited ion channel disorder associated with sudden death in adolescents. In this study, we generated a patient-specific induced pluripotent stem cell (iPSC) line XXMUFAi001-A
Xiaolei Li, Junbiao Zhang, Xiaofeng Wang, Dawei Pu, Zhenling Zhang, Yifang Niu, Shuai Zhang, Zhenping Fan, Yuxuan Li, Peicheng Li, Hui Liu, Fenghua Lv, Yongchun Zhang, Ya’nan Li   +13 more
doaj   +1 more source