Results 91 to 100 of about 2,693,618 (154)

Molecular pathogenesis of long QT syndrome type 2

Journal of Arrhythmia, 2016
The molecular mechanisms underlying congenital long QT syndrome (LQTS) are now beginning to be understood. New insights into the etiology and therapeutic strategies are emerging from heterologous expression studies of LQTS-linked mutant proteins, as well
Jennifer L. Smith, Corey L. Anderson, Don E. Burgess, Claude S. Elayi, Craig T. January, Brian P. Delisle   +5 more
doaj   +1 more source

Low resolution protein mapping and KB-R7943 drug-protein molecular interaction analysis of long-QT syndrome linked KCNH2 mutations

, 2020
Cardiac Arrhythmias (CA) are responsible for syncope and sudden cardiac death (SCD) in several million cases worldwide. The molecular basis of CA pathogenesis is known, but the underlying mechanisms connecting genotype to phenotype changes in the ...
Anwar L. Bilgrami (8568075), Imran A. Khan (2035339), Abdulhadi Bima (8568066), Omran M. Rashidi (8568069), Kaiser Jamil (29476), Babajan Banaganapalli (704628), Zuhier Ahmed Awan (8568063), Haifa S. Almukadi (8568072), Noor Ahmad Shaik (7889981)   +8 more
core   +1 more source

Case Report: Two cases of recurrent syncope caused by KCNH2 gene mutation in congenital long QT syndrome

Frontiers in Cardiovascular Medicine
This study presents two cases of congenital long QT syndrome caused by KCNH2 gene mutations. It highlights the critical role of genetic testing in its diagnosis and underscores the importance of early detection and personalized treatment strategies to ...
Aihua Xing, Lifang Liu, Lifang Liu, Wenjuan Pei, Wenjuan Pei, Xiaoyan Zhang   +5 more
doaj   +1 more source

Association of KCNH2 Gene Expression with Atrial Fibrillation in an African Population

Atrial fibrillation (AF), the most common cardiac arrhythmia, is associated with an increased risk of stroke and heart failure, with both genetic and environmental factors contributing to its pathophysiology. Emerging evidence suggests that KCNH2 gene dysregulation may play a role in arrhythmogenesis, yet data in African populations remain limited ...
Halima I. Ahmed, Basheer I. Waziri, Hassan A. Murtala, Nasiru Abdullahi, Ibrahim Yusuf, Jameel Ismail, Isah A. Aliyu, Shehu A. Kana, Jamilu A. Bala, Aisha A. Abdullah, Kasimu Mamuda, Muhammad A. Usman, Muhammad A. Abbas, Mabruk M. Elkashab, Hamisu M. Salihu   +14 more
openaire   +1 more source

Single Nucleotide Deletion Mutation of KCNH2 Gene is Responsible for LQT Syndrome in a 3-Generation Korean Family

Journal of Korean Medical Science, 2013
Long QT syndrome (LQTS) is characterized by the prolongation of the QT interval in ECG and manifests predisposition to life threatening arrhythmia which often leads to sudden cardiac death. We encountered a 3-generation family with 5 affected family members in which LQTS was inherited in autosomal dominant manner.
Park, Jong Keun, Oh, Yong-Seog, Choi, Jee-hyun, Yoon, Sungjoo Kim   +3 more
openaire   +2 more sources

Expression of KCNH2 (hERG1) and KCNE2 correlates with expression of key myometrial genes in term pregnant human myometrium

, 2017
Background: Loss of activity of Kv11.1 potassium channels (encoded by KCNH2) facilitates labor, and is associated with expression of an inhibitory subunit encoded by KCNE2.
Roger Smith (21134273), Marina Ilicic (9380765), Jonathan Paul (21128576), Tamas Zakar (21132203)   +3 more
core  

KCNH2-K897T Is a Genetic Modifier of Latent Congenital Long-QT Syndrome.

, 2005
BACKGROUND: Clinical heterogeneity among patients with long-QT syndrome (LQTS) sharing the same disease-causing mutation is usually attributed to variable penetrance.
Ferrandi C, SCHWARTZ, PETER, Vicentini A, Roden DM, Lundquist AL, Yang P, INSOLIA, ROBERTO, DE FERRARI, GAETANO, CROTTI, LIA, George AL Jr, Pedrazzini M   +10 more
core   +2 more sources

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

Annals of Pediatric Cardiology
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 ...
Francesco Ventura, Rosario Barranco, Francesca Buffelli, Ezio Fulcheri, Domenico Coviello, Antonella Palmieri   +5 more
doaj   +1 more source

KCNE1 D85N polymorphism — a sex-specific modifier in type 1 long QT syndrome?

BMC Medical Genetics, 2011
Background Long QT syndrome (LQTS) is an inherited ion channel disorder manifesting with prolongation of the cardiac repolarization phase and severe ventricular arrhythmias.
Marjamaa Annukka, Lahtinen Annukka M, Swan Heikki, Kontula Kimmo   +3 more
doaj   +1 more source

Expression and function of KCNH2 (HERG) in the human jejunum

, 2003
Previous studies suggest that ether-a-go-go related gene ( ERG) KCNH2 potassium channels contribute to the control of motility patterns in the gastrointestinal tract of animal models.
Ro, S., Horowitz, B., Farrelly, A. M., Callaghan, B. P., Khoyi, M. A., Keef, K. D., Sanders, K. M., Fleming, N.   +7 more
core   +1 more source