Results 31 to 40 of about 6,642 (199)

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole‐exome sequencing

Journal of Arrhythmia, 2023
Background Long QT syndrome (LQTS) is a lethal cardiac condition. However, the clinical implementation of genetic testing has now made LQTS eminently treatable.
Amir Farjam Fazelifar, Maryam Pourirahim, Tannaz Masoumi, Alireza Biglari, Majid Maleki, Samira Kalayinia   +5 more
doaj   +1 more source

Therapeutic and Predicted Significance of PKLR in Patients With Cholangiocarcinoma. [PDF]

Cancer Rep (Hoboken)
ABSTRACT Background Cholangiocarcinoma (CCA) is a highly heterogeneous malignancy with a poor prognosis. However, the molecular mechanisms underlying CCA and its treatment options remain unclear and limited. Aims This study aims to identify novel prognostic biomarkers and potential therapeutic targets for CCA through transcriptomics and whole‐exome ...
Gong B, Xu X, Xu T, Zhang D, Yang L, Li C, Li T, Luo Y.   +7 more
europepmc   +2 more sources

High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KCNH2 : Deep mutational scan of KCNH2 trafficking [PDF]

, 2020
ABSTRACT Background KCHN2 encodes the K V 11.1 potassium channel responsible for I Kr , a major repolarization ...
Kozek, Krystian A., Glazer, Andrew M., Ng, Chai-Ann, Blackwell, Daniel, Egly, Christian L., Vanags, Loren R., Blair, Marcia, Mitchell, Devyn, Matreyek, Kenneth A., Fowler, Douglas M., Knollmann, Bjorn C., Vandenberg, Jamie, Roden, Dan M., Kroncke, Brett M.   +13 more
openaire   +1 more source

Maternal mosaicism in long QT syndrome due to a pathogenic variant in KCNH2 [PDF]

HeartRhythm Case Reports, 2021
We present the case of a singleton pregnancy presenting in utero with periods of 2:1 heart block with persistent fetal bradycardia and suspected fetal ventricular tachycardia. Postnatal clinical genetic testing identified a pathogenic variant in KCNH2.
Sawyer, Briana L., Tristani-Firouzi, Martin, Wells, Layne E., Vatta, Matteo, Etheridge, Susan P.   +4 more
openaire   +2 more sources

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

Cardiovascular Innovations and Applications, 2020
Long QT syndrome (LQTS), which is caused by an ion channel–related gene mutation, is a malignant heart disease with a clinical course of a high incidence of ventricular fibrillation and sudden cardiac death in the young. Mutations in KCNH2 (which encodes
Yafei Zhai, Jinxin Miao, Ying Peng, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong   +7 more
doaj   +1 more source

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication

Frontiers in Genetics, 2022
Background: Pathogenic mutations in the KCNH2 gene were associated with long QT syndrome 2 (LQT2), which typically manifest in a prolonged QT interval and may lead to recurrent syncopes, seizure, or sudden death.
Jianlong Zhuang, Chunnuan Chen, Yuanbai Wang, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Yingjun Xie, Yingjun Xie, Gaoxiong Wang   +8 more
doaj   +1 more source

Quercetin is a foe in the heart by targeting the hERG potassium channel [PDF]

Iranian Journal of Basic Medical Sciences
Objective(s): Quercetin is a plant flavonoid known for its pharmacological activities, such as antioxidant, anti-inflammatory, and anti-cancer properties. However, there is limited information available regarding its potential toxicities.
Zihao Lu, Shuwen Li, Rui Wei, Wenwen Li, Yuqian Huang, Tingting Yang, Meng Yan   +6 more
doaj   +1 more source

Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel

Orphanet Journal of Rare Diseases, 2022
Background Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed “inherited primary arrhythmia syndromes” and “channelopathies”, which lead to sudden cardiac death.
Jia Chen, Hong Li, Sicheng Guo, Zhe Yang, Shaoping Sun, JunJie Zeng, Hongjuan Gou, Yechang Chen, Feng Wang, Yanping Lin, Kun Huang, Hong Yue, Yuting Ma, Yubi Lin   +13 more
doaj   +1 more source

Tbx20 controls the expression of the KCNH2 gene and of hERG channels [PDF]

Proceedings of the National Academy of Sciences, 2017
Significance Tbx20 is a transcription factor whose critical role in cardiogenesis is well-established. Here we functionally analyzed the electrophysiological effects produced by a mutation (p.R311C) in Tbx20 found in some affected individuals belonging to a family with long QT syndrome (an inherited cardiac ...
Ricardo Caballero, Raquel G. Utrilla, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, David Tinaquero, Silvia Alfayate, Paloma Nieto-Marín, Guadalupe Guerrero-Serna, Qing-hua Liu, Roberto Ramos-Mondragón, Daniela Ponce-Balbuena, Todd Herron, Katherine F. Campbell, David Filgueiras-Rama, Rafael Peinado, José L. López-Sendón, José Jalife, Eva Delpón, Juan Tamargo   +19 more
openaire   +3 more sources

Genetic landscape of patients with atypical absence status epilepticus: A systematic review. [PDF]

Epilepsia Open
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Cioclu MC, Giovannini G, Meletti S.
europepmc   +2 more sources