Results 31 to 40 of about 10,273 (224)

The KCNH2 genetic polymorphism (1956, C>T) is a novel biomarker that is associated with CCB and α,β-ADR blocker response in EH patients in China. [PDF]

PLoS ONE, 2013
KCNH2 (hERG) potassium channels have an integral role in regulating the excitability of smooth muscle cells. Some pathways driven by angiotensin II, nitric oxide and adrenergic receptors blocker are involved in modulating the properties of KCNH2 ...
Fazhong He, Jianquan Luo, Zhiying Luo, Lan Fan, Yijing He, Dingliang Zhu, Jinping Gao, Sheng Deng, Yan Wang, Yuesheng Qian, Honghao Zhou, Xiaoping Chen, Wei Zhang   +12 more
doaj   +1 more source

Derivation and characterization of two human induced pluripotent stem cell lines (NUIGi004-A) and (NUIGi012-A) from two patients with LQT2 disease

Stem Cell Research, 2021
Long QT syndrome type 2 (LQT2) is associated with KCNH2, which encodes the α subunit of the ion channel that controls the K+ current in the heart. Mutations of KCNH2 cause loss of Kv11.1 channel function by disrupting subunit folding, assembly, or ...
Min Liu, Ning Ge, Jianhua Zhang, Meimei Yang, Fan Yang, Janusz Krawczyk, Deirdre Ward, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Terence Prendiville   +10 more
doaj   +1 more source

Targeting potassium channels and autophagy to defeat chemoresistance

Molecular & Cellular Oncology, 2020
Both autophagy and hERG1 potassium channels have been shown to promote tumor progression and resistance to treatment. Our findings indicate that the antibiotic clarithromycin can target hERG1 and modulate autophagy to promote the death of chemoresistant ...
Giulia Petroni
doaj   +1 more source

The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2

Frontiers in Physiology, 2021
While rare mutations in ion channel genes are primarily responsible for inherited cardiac arrhythmias, common genetic variants are also an important contributor to the clinical heterogeneity observed among mutation carriers.
Lettine van den Brink, Karina O. Brandão, Loukia Yiangou, Albert Blanch-Asensio, Mervyn P. H. Mol, Christine L. Mummery, Christine L. Mummery, Arie O. Verkerk, Richard P. Davis   +8 more
doaj   +1 more source

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]

, 2020
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro, Beerens, Manu, Burch, Micah L, Buys, Eva, Chiang, David Y, Cui, Shihe, Fujino, Noboru, Fujita, Takashi, Funada, Akira, Furusho, Hiroshi, Hayashi, Kenshi, Hodatsu, Akihiko, Inoue, Masaru, Kaku, Bunji, Kato, Takeshi, Kawashiri, Masa-aki, Kelly, Amy E, Kita, Yoshihito, Kiviniemi, Tuomas O, Kobayashi, Isao, Konno, Tetsuo, Kurata, Yasutaka, MacRae, Calum A, Nagata, Yoji, Nakanishi, Chiaki, Namura, Masanobu, Nomura, Akihiro, Oe, Kotaro, Okada, Hirofumi, Onoue, Kenji, Saito, Yoshihiko, Sakamoto, Yuichiro, Sakata, Kenji, Sips, Patrick, Tada, Hayato, Takamura, Masayuki, Takashima, Seiji, Takeda, Yuko, Tanaka, Yoshihiro, Teramoto, Ryota, Tsuchiya, Taketsugu, Tsuda, Toyonobu, Usuda, Keiich, Yamagishi, Masakazu, Zhao, Yanbin   +44 more
core   +1 more source

Integration of validated functional evidence to support the pathogenicity of KCNH2 variants. [PDF]

Genet Med Open
Aljassar RW, Shen Q, Albash B, Vandenberg JI, Ebrahim MA, Ng CA.   +5 more
europepmc   +2 more sources

Postpartum QT Prolongation in a Long QT Syndrome Type 1 Patient. [PDF]

Ann Noninvasive Electrocardiol
We present the case of an LQT1 patient with a previous cardiac event during the postpartum period. Performance of electrocardiograms and Estradiol as well as Progesterone levels revealed prolonged QT intervals postpartum correlating to declining sex hormone levels elevate the risk for arrhythmic events in this period.
Wiedenmann LC, Ehrlich JR, Goldenberg I.
europepmc   +2 more sources

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome

Stem Cell Research, 2021
Congenital long QT syndrome type 2 (LQT2) results from KCNH2 mutations that cause loss of Kv11.1 channel function which can lead to arrhythmias, syncope, and sudden death.
Gema Mondéjar-Parreño, James W.S. Jahng, Nadjet Belbachir, Blake C. Wu, Xiaolan Zhang, Marco V. Perez, Nitish Badhwar, Joseph C. Wu   +7 more
doaj   +1 more source

Sudden cardiac death in young athletes: Literature review of molecular basis [PDF]

, 2020
Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue ...
Barbara Lombardo, Bruno Mirra, Cristina Mazzaccara, Ferdinando Barretta, Giulia Frisso, Olga Scudiero   +5 more
core   +1 more source