Discovery of Digenic Mutation, KCNH2 c.1898A >C and JUP c.916dupA, in a Chinese Family with Long QT Syndrome via Whole-Exome Sequencing

by Yafei Zhai, Jinxin Miao, Ying Peng, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong
Published 2020-07-01

A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2

by Hyun Sok Yoo, Nancy Medina, María Alejandra von Wulffen, Natalia Ciampi, Analia Paolucci, Hugo Ariel Garro, Mario Bruno Principato, Rafael Salvador Acunzo, Justo Carbajales
Published 2021-01-01

Molecular pathogenesis of long QT syndrome type 2

by Jennifer L. Smith, Corey L. Anderson, Don E. Burgess, Claude S. Elayi, Craig T. January, Brian P. Delisle
Published 2016-10-01

Association between polymorphisms in NOS3 and KCNH2 and social memory

by Susanne eHenningsson, Anna eZettergren, Anna eZettergren, Daniel eHovey, Lina eJonsson, Joakim eSvärd, Diana Sanchez Cortes, Jonas eMelke, Natalie C Ebner, Natalie C Ebner, Petri eLaukka, Hakan eFischer, Hakan eFischer, Lars eWestberg
Published 2015-10-01

Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes

by Bijal Vyas, Ratna D. Puri, Narayanan Namboodiri, Renu Saxena, Mohan Nair, Prahlad Balakrishnan, M.P. Jayakrishnan, Ameya Udyavar, Ravi Kishore, Ishwar C. Verma
Published 2016-01-01

Functional evaluation of gene mutations in Long QT Syndrome: strength of evidence from in vitro assays for deciphering variants of uncertain significance

by Jules C. Hancox, Alan G. Stuart, Stephen C. Harmer
Published 2020-11-01

Mexiletine shortens the QT interval in a pedigree of KCNH2 related long QT syndrome

by Taishi Fujisawa, Yoshiyasu Aizawa, Yoshinori Katsumata, Kensuke Kimura, Kenji Hashimoto, Terumasa Yamashita, Hiroshi Miyama, Takehiro Kimura, Kenjiro Kosaki, Seiji Takatsuki, Wataru Shimizu, Keiichi Fukuda
Published 2020-02-01

A microtranslatome coordinately regulates sodium and potassium currents in the human heart

by Catherine A Eichel, Erick B Ríos-Pérez, Fang Liu, Margaret B Jameson, David K Jones, Jennifer J Knickelbine, Gail A Robertson
Published 2019-10-01

Étude cellulaire et moléculaire de quelques aspects de la fibrillation atriale et du syndrome du QT long : rôle des connexines 40 et 43, du facteur de transcription PITX2c et du ca...

by Mechakra, Asma
Published 2014

Aborted Cardiac Arrest in LQT2 Related to Novel <i>KCNH2</i> (<i>hERG</i>) Variant Identified in One Lithuanian Family

by Neringa Bileišienė, Jūratė Barysienė, Violeta Mikštienė, Eglė Preikšaitienė, Germanas Marinskis, Monika Keževičiūtė, Algirdas Utkus, Audrius Aidietis
Published 2021-07-01

Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo‐EM hERG structure

by Yihong Zhang, Christopher E. Dempsey, Jules C. Hancox
Published 2020-10-01

A Heterozygous Missense hERG Mutation Associated with Early Repolarization Syndrome

by Yun-Jiu Cheng, Hao Yao, Cheng-Cheng Ji, Xu-Miao Chen, Jun Fan, Li-Juan Liu, Su-Hua Wu
Published 2018-11-01

Allelic Complexity in Long QT Syndrome: A Family-Case Study

by Alberto Zullo, Giulia Frisso, Nicola Detta, Berardo Sarubbi, Emanuele Romeo, Angela Cordella, Carlos G. Vanoye, Raffaele Calabrò, Alfred L. George, Francesco Salvatore
Published 2017-07-01

Long QT syndrome with potassium voltage-gated channel subfamily H member 2 gene mutation mimicking refractory epilepsy: case report

by Huicong Kang, Lili Lan, Yuchao Jia, Cun Li, Yongkang Fang, Suiqiang Zhu, Heidi Kirsch
Published 2021-09-01

Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2 <i>KCNH2</i> (<i>hERG</i>) Mutations and Identifying New Patients

by Makoto Ono, Don E. Burgess, Elizabeth A. Schroder, Claude S. Elayi, Corey L. Anderson, Craig T. January, Bin Sun, Kalyan Immadisetty, Peter M. Kekenes-Huskey, Brian P. Delisle
Published 2020-08-01

hERG-deficient human embryonic stem cell-derived cardiomyocytes for modelling QT prolongation

by Yun Chang, Ya-nan Li, Rui Bai, Fujian Wu, Shuhong Ma, Amina Saleem, Siyao Zhang, Youxu Jiang, Tao Dong, Tianwei Guo, Chengwen Hang, Wen-jing Lu, Hongfeng Jiang, Feng Lan
Published 2021-05-01

USING GENE THERAPY TO PREVENT ATRIAL FIBRILLATION

by Liu, Zhao
Published 2017

Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines

by Sampson Heidi M, Lam Hung, Chen Pei-Chun, Zhang Donglei, Mottillo Cristina, Mirza Myriam, Qasim Karim, Shrier Alvin, Shyng Show-Ling, Hanrahan John W, Thomas David Y
Published 2013-01-01

Mixed phenotype cardiomyopathy, associated with DSP genetic variant: a case report and literature review.

by I. V. Shlyk, A. A. Streltsova, V. M. Teplov, E. G. Gavrilova, A. N. Kulikov, A. N. Krutikov, M. G. Rybakova, I. A. Kuznetsova, S. E. Andreeva, T. G. Bezhanishvili, A. A. Khudiakov, A. A. Kostareva, A. Ya. Gudkova
Published 2020-11-01