Results 11 to 20 of about 9,256 (240)

KCNH2‐L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance [PDF]

Molecular Genetics & Genomic Medicine
Background Congenital long QT syndrome (LQTS) is an inherited arrhythmia characterized by QT prolongation and increased risk of ventricular arrhythmias. Type 2 LQTS (LQT2) results from mutations in the KCNH2 gene encoding the hERG potassium channel. With
Xi‐Fan Zheng, Qiu Chen, Xiang‐Ting Lu, Hai‐Long Dai, Xue‐Feng Guang   +4 more
doaj   +2 more sources

Congenital Long QT Syndrome with Compound Mutations in KCNH2 Gene

Journal of Arrhythmia, 2011
Congenital long QT syndrome is a genetic disorder encompassing a family of mutations that can lead to aberrant ventricular electrical activity. We report on two brothers with long QT syndrome caused by compound mutations in the KCNH2 gene inherited from parents who had no prolonged QT interval on electrocardiography.
Sachiko Bando, Takeshi Soeki, Toshiyuki Niki, Kenya Kusunose, Koji Yamaguchi, Yoshio Taketani, Takashi Iwase, Hirotsugu Yamada, Tetsuzo Wakatsuki, Wataru Simizu, Masataka Sata   +10 more
openalex   +2 more sources

Circulating KCNH2 current-activating factor in patients with heart failure and ventricular tachyarrhythmia. [PDF]

PLoS ONE, 2011
It is estimated that approximately half of the deaths in patients with HF are sudden and that the most likely causes of sudden death are lethal ventricular tachyarrhythmias such as ventricular tachycardia (VT) or fibrillation (VF).
Hiroki Sugiyama, Kazufumi Nakamura, Hiroshi Morita, Satoshi Akagi, Yoshinori Tani, Yusuke Katayama, Nobuhiro Nishii, Toru Miyoshi, Satoshi Nagase, Kunihisa Kohno, Kengo Fukushima Kusano, Tohru Ohe, Junko Kurokawa, Tetsushi Furukawa, Hiroshi Ito   +14 more
doaj   +3 more sources

Kcnh2 mediates FAK/AKT‐FOXO3A pathway to attenuate sepsis‐induced cardiac dysfunction [PDF]

Cell Proliferation, 2020
AbstractObjectivesMyocardial dysfunction is a significant manifestation in sepsis, which results in high mortality. Even Kcnh2 has been hinted to associate with the pathological process, its involved signalling is still elusive.Materials and methodsThe caecal ligation puncture (CLP) surgery or lipopolysaccharide (LPS) injection was performed to induce ...
Zhigang Li, Yilei Meng, Chang Liu, Huan Liu, Wenze Cao, Chang Tong, Min Lu, Li Li, Luying Peng   +8 more
openalex   +3 more sources

Neonatal death of siblings with Uhl’s disease and KCNH2 mutation - A rare association

Annals of Pediatric Cardiology
ABSTRACT Uhl’s disease is a rare disorder secondary to the uncontrolled destruction of right ventricular myocytes during the perinatal period. We present here the case of a 1-month-old child who died suddenly of Uhl’s disease, which was only diagnosed at autopsy and histological examination.
Francesco Ventura, Rosario Barranco, Francesca Buffelli, Ezio Fulcheri, Domenico Coviello, Antonella Palmieri   +5 more
openalex   +4 more sources

Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome.

PLoS ONE
We identified two different inherited mutations in KCNH2 gene, or human ether-a-go-go related gene (hERG), which are linked to Long QT Syndrome. The first mutation was in a 1-day-old infant, whereas the second was in a 14-year-old girl.
Anthony Owusu-Mensah, Jacqueline Treat, Joyce Bernardi, Ryan Pfeiffer, Robert Goodrow, Bright Tsevi, Victoria Lam, Michel Audette, Jonathan M Cordeiro, Makarand Deo   +9 more
doaj   +2 more sources

Calibrated Functional Data Decrease Clinical Uncertainty for KCNH2-Related Long-QT Syndrome. [PDF]

Circ Genom Precis Med
Ng CA, O'Neill MJ, Padigepati SR, Ting YL, Facio FM, Vatta M, Poll SR, Reuter JA, Vandenberg JI, Kroncke BM.   +9 more
europepmc   +3 more sources

Pathogenic KCNH2-G53S variant in the PAS domain influences the electrophysiological phenotype in long QT syndrome type 2. [PDF]

Front Cardiovasc Med
Mun D, Kang JY, Park M, Yoo G, Yun N, Hwang Y, Joung B.   +6 more
europepmc   +2 more sources

Síndrome de QT largo: Nueva mutación en el gen KCNH2

Iatreia, 2010
Se presenta el caso de un paciente masculino de 10 años, con cuadro clínico y electrocardiográfico concordante con síndrome de QT largo, en quien se realizó secuenciación de los genes KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), KCNE2 (LQT6 ...
Luis Arturo Lizcano Gil, Karina Mancera
doaj   +1 more source

KCNH2 regulates the growth and metastasis of pancreatic cancer

Journal of Pancreatology, 2023
Objective:. Due to the characteristics of insidious onset and early metastasis of pancreatic cancer (PC), patients are often diagnosed at an advanced stage and often delayed in completing surgical resection timely, resulting in poor prognosis. Therefore,
Jinghao Lei, Qiang Wang, Tengfei Qu, Lichao Cha, Hanxiang Zhan, Jianwei Xu, Shanglong Liu, Lantian Tian, Chuandong Sun, Jingyu Cao, Fabo Qiu, Weidong Guo, Bin Zhou   +12 more
doaj   +1 more source