Results 121 to 130 of about 9,233 (239)

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

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

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

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

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  

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

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

KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences

, 2023
Zun‐Ping Ke, Chao Li, Gang Bai, Li Kuo Tan, Junfeng Wang, Ming Zhou, Jianhua Zhou, Shi‐You Chen, Xiao Dong   +8 more
openalex   +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