Results 211 to 220 of about 10,273 (224)

Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.

Human Molecular Genetics, 2023
BACKGROUND The c.453delC (p.Thr152Profs*14) frameshift mutation in KCNH2 is associated with an elevated risk of Long QT syndrome (LQTS) and fatal arrhythmia.
Na-Kyeong Park, Soon-Jung Park, Yun-Gwi Park, Sung-Hwan Moon, J. Woo, Hyun Jong Kim, Sung Joon Kim, S. Choi   +7 more
semanticscholar   +1 more source

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification

medRxiv
BACKGROUND: Long QT syndrome is a lethal arrhythmia syndrome, frequently caused by rare loss-of-function variants in the potassium channel encoded by KCNH2. Variant classification is difficult, often because of lack of functional data.
M. O’Neill, Chai-Ann Ng, T. Aizawa, Luca Sala, S. Bains, A. Winbo, Rizwan Ullah, Qianyi Shen, Chek-ying Tan, Krystian Kozek, Loren R. Vanags, Devyn W. Mitchell, Alex Shen, Yuko Wada, A. Kashiwa, L. Crotti, F. Dagradi, Giulia Musu, C. Spazzolini, R. Neves, J. Bos, J. Giudicessi, X. Bledsoe, E. Gamazon, Megan C. Lancaster, A. Glazer, Bjorn C. Knollmann, D. Roden, Jochen Weile, Frederick P. Roth, Joe-Elie Salem, Nikki J. Earle, R. Stiles, Taylor Agee, Christopher N. Johnson, Minoru Horie, Jonathan R. Skinner, Michael J. Ackerman, P. Schwartz, S. Ohno, Jamie I. Vandenberg, B. Kroncke   +41 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

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, Ramin Garmany, Estefania Martinez-Barrios, Xiaozhi Gao, R. Neves, D. Tester, S. Bains, Wei Zhou, J. Giudicessi, Michael J. Ackerman   +9 more
semanticscholar   +1 more source

Abstract Sa906: Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients with Long QT Syndrome

Circulation
Aims: The aim of this study was to investigate the topological distribution of single nucleotide variants (SNVs) in KCNH2 in patients with long QT syndrome (LQTS) and to explore the relationships between genotypes and phenotypes.
Kui Hong, Hongyu Liu, zh Jiang, Yang Shen, Yuhao Su, Ying Shao   +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
Ezekiel R Rozmus, Alexander Alimov, Isabel G Stumpf, John McCarthy, Brian P Delisle, Elizabeth A. Schroder   +5 more
semanticscholar   +1 more source

A synonymous KCNH2 polymorphism and methadone trough level influence QTc prolongation in Kelantanese Malay recipients of methadone maintenance therapy (MMT) in Malaysia

PLoS ONE
Potassium voltage-gated channel subfamily H member 2 (KCNH2) polymorphisms have been found to influence the heart-rate adjusted QT (QTc) intervals. We investigated the association between KCNH2 polymorphisms and QTc intervals among Malay opioid-dependent
Muhammad Irfan Abdul Jalal, Muhammad-Redha Abdullah-Zawawi, Nurfadhlina Musa, Basyirah Ghazali, Zalina Zahari, N. Mohamad   +5 more
semanticscholar   +1 more source

Sinus Bradycardia and Long QT Syndrome: Double Heterozygosity for Variants in KCNH2 and HCN4

Cardiogenetics
Introduction: Clinical variability within families harbouring disease-causing genetic variants hampers clinical care and risk stratification. We studied a multigenerational family presenting with sinus bradycardia and long QT syndrome type 2 (LQTS2). The
Jaël S. Copier, Fenna Tuijnenburg, K. Andrzejczyk, A. Postma, Saskia N. van der Crabben, Oussama Najih, C. Pham, L. Beekman, A. Verkerk, A. S. Amin, E. Lodder   +10 more
semanticscholar   +1 more source

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, Viviana A. Ruiz-Pozo, D. Simancas-Racines, A. Zambrano   +8 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, Ramon Brugada, Kui Hong   +7 more
semanticscholar   +1 more source