Results 141 to 150 of about 6,848 (166)

Characterization of a variant in the KCNH2 gene in an Ecuadorian patient with long QT syndrome: A case report.

Medwave
Long QT syndrome is a rare cardiac channelopathy characterized by prolonged QT intervals and altered T wave morphology. The etiology of long QT syndrome is multifactorial, including environmental and genetic factors.
Santiago Cadena-Ullauri, P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Elius Paz-Cruz, V. Ruiz-Pozo, D. Simancas-Racines, A. Zambrano   +8 more
semanticscholar   +1 more source

Generation of three induced pluripotent stem cell lines from a long QT syndrome type 2 family harboring the pathogenic KCNH2 c.209A > G (p.His70Arg) variant.

Stem Cell Research
Long QT Syndrome Type 2 (LQT2) is a heart rhythm disorder caused by a loss-of-function mutation in the KCNH2 gene, characterized by a prolonged QT interval on an electrocardiogram (ECG) and symptoms such as syncope and potentially life-threatening ...
Evan Scislowicz, Dingqian Ding, Anna G. Griggs, Adriana Harbuzariu, Ilanit Itzhaki   +4 more
semanticscholar   +1 more source

Topological Distribution of KCNH2 Variants and Genotype‐Phenotype Relationship in Patients With Long QT Syndrome

Pacing and clinical electrophysiology : PACE
The aim of this study was to investigate the topological distribution of single nucleotide variants (SNVs) in the KCNH2 gene from patients with type 2 long QT syndrome (LQT2) and to explore the genotype‐phenotype relationships.
Hongyu Liu, Zhenhong Jiang, Yang Shen, Ying Shao, Yuhao Su, Daowu Wang, R. Brugada, K. Hong   +7 more
semanticscholar   +1 more source

Amiodarone Advances the Apoptosis of Cardiomyocytes by Repressing Sigmar1 Expression and Blocking KCNH2-related Potassium Channels.

Current molecular medicine
BACKGROUND Heart failure (HF) is the ultimate transformation result of various cardiovascular diseases. Mitochondria-mediated cardiomyocyte apoptosis has been uncovered to be associated with this disorder.
Huiqing Liang, Huixian Li, Fangjiang Li, Xiaobo Xiong, Yang Gao   +4 more
semanticscholar   +1 more source

Genome Sequencing in a Genetically Elusive Multi-Generational Long QT Syndrome Pedigree Identifies a Novel LQT2-Causative Deeply Intronic KCNH2 Variant.

Heart Rhythm, 2022
BACKGROUND Most of long QT syndrome (LQTS) stems from pathogenic variants in KCNQ1, KCNH2, or SCN5A. However, ∼10-20% of LQTS index cases remain genotype-negative.
Kathryn E. Tobert, D. Tester, Wei Zhou, Carla M. Haglund-Turnquist, J. Giudicessi, M. Ackerman   +5 more
semanticscholar   +1 more source

Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization

Circulation Genomic and Precision Medicine
BACKGROUND: Genetic testing for cardiac channelopathies is the standard of care. However, many rare genetic variants remain classified as variants of uncertain significance (VUS) due to lack of epidemiological and functional data.
D. Ye, R. Garmany, Estefanía Martínez-Barrios, Xiaozhi Gao, R. Neves, D. Tester, S. Bains, Wei Zhou, J. Giudicessi, Michael J. Ackerman   +9 more
semanticscholar   +1 more source

Dissecting the associations of KCNH2 genetic polymorphisms with various types of cardiac arrhythmias.

Gene
BACKGROUND Cardiac arrhythmia, a common cardiovascular disease, is closely related to genetic polymorphisms. However, the associations between polymorphisms in KCNH2 and various arrhythmias remain inadequately explored. METHODS Guided by the assumption
Sen Li, Zhang Zhang, Yining Ding, Tingting Yu, Zongshi Qin, Shuzhen Guo   +5 more
semanticscholar   +1 more source

Integration of validated functional evidence to support the pathogenicity of KCNH2 variants

Genetics in medicine open
Functional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the cause of the condition.
Reema AlJassar, Qianyi Shen, Buthaina Albash, J. I. Vandenberg, Mohammad A. Ebrahim, Chai-Ann Ng   +5 more
semanticscholar   +1 more source

Abstract We142: Identification of the Molecular Determinants for the Circadian Regulation of the Human KCNH2 promoter

Circulation Research
Background: KCNH2 encodes a voltage-gated potassium channel (Kv11.1), which conducts the rapid delayed rectifier potassium current (IKr) critical for ventricular repolarization in the heart. Circadian clock factors regulate the expression of the KCNH2
E. Rozmus, Alexander Alimov, Isabel G Stumpf, John McCarthy, Brian P. Delisle, Elizabeth A. Schroder   +5 more
semanticscholar   +1 more source

KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome.

Canadian Journal of Cardiology
BACKGROUND Congenital Long QT syndrome (LQTS) is an inherited arrhythmogenic disorder characterized by prolonged QTc intervals and T-wave abnormalities on electrocardiogram (ECG). Prolonged QT intervals can lead to syncope, seizures, torsades de pointes,
Angela Ambrosio, Chai-Ann Ng, Lindsay Burnell, Emma Redpath, Laura Arbour, J. I. Vandenberg, E. Théberge, Michael J. Thibert, Markus B. Sikkel, Andrew D. Krahn, R. Leather, Martin van Zyl   +11 more
semanticscholar   +1 more source