Results 121 to 130 of about 9,256 (240)

Analysis of the human KCNH2(HERG) gene: Identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #325 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/325.pdf [PDF]

, 2000
Aimée Paulussen, Ping Yang, Menelas N. Pangalos, Peter Verhasselt, Roger Marrannes, Christel Verfaille, Ine Vandenberk, Raf Crabbe, Frank Konings, Walter Luyten, Martin Armstrong   +10 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

Homozygous Missense N629D hERG (KCNH2) Potassium Channel Mutation Causes Developmental Defects in the Right Ventricle and Its Outflow Tract and Embryonic Lethality [PDF]

, 2008
Guo Qi Teng, Xian Zhao, James P. Lees‐Miller, F. Russell Quinn, Pin Li, Derrick E. Rancourt, Barry London, James C. Cross, Henry J. Duff   +8 more
openalex   +1 more source

Selective acquired long QT syndrome (saLQTS) upon risperidone treatment

BMC Psychiatry, 2012
Background Numerous structurally unrelated drugs, including antipsychotics, can prolong QT interval and trigger the acquired long QT syndrome (aLQTS). All of them are thought to act at the level of KCNH2, a subunit of the potassium channel.
Lazarczyk Maciej, Bhuiyan Zahir A, Perrin Nicolas, Giannakopoulos Panteleimon   +3 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  

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

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

Возможности электрокардиографических методов исследования в диагностике новой мутации в гене KCNH2 (диагностика мутации в гене KCNH2 de novo)

Анналы аритмологии, 2012
Standard and multichannel electrocardiography (ECG), 12 channel Holter ECG daily monitoring, genealogic anamnesis acquisition and electrocardiograms assessment for every member of the family including available distant relations were carried out, cases of sudden death in the family were revealed.
openaire   +1 more source

Generation of human induced pluripotent stem cell lines from a fetus with congenital long QT syndrome and her healthy parents

Stem Cell Research
Long QT syndrome (LQTS) is a channelopathy that predisposes affected individuals to ventricular arrhythmias and cardiac arrest. Here, a human induced pluripotent stem cell (hiPSC) line was generated from amniotic fluid cells (AFCs) of a 32-week fetus ...
Manesha Putra, Bettina F. Cuneo, Congwu Chi, Zhen Zhang, Linnea Prudell, Kunhua Song   +5 more
doaj   +1 more source

Generation of KCNH2 heterozygous knockout induced pluripotent stem cell (iPSC) line (Long and Short QT Syndrome)

Stem Cell Research
KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member) encodes a voltage-activated potassium channel role as rapidly activating-delayed rectifier potassium channel that plays an essential role in the final repolarization of the ventricular action ...
Baiqiang Wang, Qian Ren, Xiaomeng Cui, Wei shan, Xiangge Guo, Xumeng Wang, Jiaxuan Wang, Yanting Li, Guipeng An   +8 more
doaj   +1 more source