Results 71 to 80 of about 6,642 (199)

Síndrome do QT longo: mutação trigénica, um caso raro

Revista Portuguesa de Cardiologia, 2015
Resumo: A síndrome do QT longo congénito (SQTLC) é uma doença hereditária rara, com uma incidência de uma em cada 2000 pessoas, caracterizada por uma repolarização ventricular prolongada e por taquiarritmias ventriculares malignas.Reportamos o caso de ...
Marina Fernandes, Sílvia Martins Ribeiro, Victor Sanfins, António Lourenço   +3 more
doaj   +1 more source

From Genomics to Precision Cardiology: A Comprehensive Review of Clinical Applications and Challenges in Cardiovascular Diseases

Clinical Cardiology, Volume 49, Issue 10, October 2026.
Genomic medicine in cardiovascular care is progressing from established diagnostic applications toward integrated risk prediction, multiomics, and emerging therapeutic strategies. ABSTRACT Background Genomic cardiology is an emerging field integrating genetic, molecular, imaging, and digital health data to improve cardiovascular disease (CVD ...
Neda Mohsen‐Pour, Shiva Esmaeili, Aydin Feyzi, Ali Sharafi, Majid Maleki, Samira Kalayinia   +5 more
wiley   +1 more source

Key role for Kv11.1 (ether‐a‐go‐go related gene) channels in rat bladder contractility

Physiological Reports, 2023
In addition, to their established role in cardiac myocytes and neurons, ion channels encoded by ether‐a‐go‐go‐related genes (ERG1‐3 or kcnh2,3 and 6) (kcnh2) are functionally relevant in phasic smooth muscle.
Vincenzo Barrese, Zena Wehbe, Alice Linden, Sarah McDowell, Elizabeth Forrester, Oleksander Povstyan, Karen D. McCloskey, Iain A. Greenwood   +7 more
doaj   +1 more source

SIRT6 Activation Improves Intervertebral Disc Health in the Aging Spine

Aging Cell, Volume 25, Issue 10, October 2026.
Our studies for the first time underscore the feasibility of long‐term SIRT6 activation as a pharmacological strategy to maintain the health of the intervertebral disc in the aging spine. ABSTRACT Aging is a critical risk factor for intervertebral disc degeneration, a major contributor to chronic low back pain.
Pranay Ramteke, Bahiyah Watson, Sanjana Jagannath, Sarah E. Bell, Mallory Toci, Olivia Ottone, Qinglin Wu, Oliver Abinader, Ramkrishna Mitra, John A. Collins, Ruteja A. Barve, Makarand V. Risbud   +11 more
wiley   +1 more source

KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences

, 2023
Introduction:  Long QT Syndrome (LQTS) is an inherited disease with an abnormal electrical conduction system in the heart that can cause sudden death as a result of QT prolongation.
Wang, JunFeng, Zhou, JianHua, Dong, Xiao, Tan, Li, Chen, Shi-You, Ke, ZunPing, Zhou, Ming, Li, Chao, Bai, Gang   +8 more
core  

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

A case of long QT syndrome having compound mutations of KCNH2 and SCN5A [PDF]

Journal of Cardiology Cases, 2012
Long QT syndrome (LQTS) is a hereditary ion channelopathy resulting in prolonged cardiac repolarization and abnormal prolongation of the QT interval on the electrocardiogram (ECG). The patients are likely to develop ventricular arrhythmias and sudden cardiac death.
Ito, Saki, Taketani, Takeshi, Sugamori, Takashi, Okada, Taiji, Sato, Hirotomo, Adachi, Tomoko, Takeda, Masaki, Kodani, Nobuhiro, Takahashi, Nobuyuki, Endo, Akihiro, Yoshitomi, Hiroyuki, Tanabe, Kazuaki, Shimizu, Wataru   +12 more
openaire   +2 more sources

Neurocardiology: Brain–Heart Interactions in the Heart

MedComm, Volume 7, Issue 9, September 2026.
The heart and brain maintain systemic homeostasis through bidirectional communication involving neural, biochemical, and mechanical pathways. Dysregulation of these pathways contributes to a spectrum of conditions involving heart–brain interactions, including Takotsubo syndrome, the epileptic heart, stroke–heart syndrome, heart failure, cardiac ...
Wentao Wang, Hao Jia, Han Han, Jiangping Song   +3 more
wiley   +1 more source

ANK2 functionally interacts with KCNH2 aggravating long QT syndrome in a double mutation carrier

, 2019
Pathogenic long QT mutations often comprise high phenotypic variability and particularly variants in ANK2 (long QT syndrome 4) frequently lack QT prolongation. We sought to elucidate the genetic and functional background underlying the clinical diversity
Runge, S., Haas, J., Schweizer, P., Heinemann, S., Meder, B., Katus, H., Gessnera, G., Koenen, M., Thomas, D.   +8 more
core   +1 more source

H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating

, 2021
Long QT syndrome is one of the most common hereditary channelopathies inducing fatal arrhythmias and sudden cardiac death. We identified in a sudden arrhythmic death syndrome case a C-term KCNH2 mutation (c.3457C > T; p.His1153Tyr) classified as variant ...
Brun, Susana, Caroline Spenle, Farrugia, Audrey, Omar Taleb, Rollet, Kévin, Ayikoe Guy Mensah-Nyagan, Taleb, Omar, Sinniger, Jérôme, Spenle, Caroline, Ludes, Bertrand, Mensah-Nyagan, Ayikoe, Jérome Sinniger, Susana Brun, Bertrand Ludes, Kevin Rollet, Audrey Farrugia, Ludes, B. (Bertrand), Farrugia, A. (Audrey), Taleb, O. (Omar), Spenle, C. (Caroline), Brun, S. (Susana), Mensah-Nyagan, A. (Ayikoe) G. (Guy), Rollet, K. (Kévin), Sinniger, J. (Jérôme)   +23 more
core   +1 more source