The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy
The endoplasmic reticulum (ER) employs stringent quality control mechanisms to ensure the
integrity of protein folding, allowing only properly folded, processed and assembled proteins …
integrity of protein folding, allowing only properly folded, processed and assembled proteins …
Targeted activation of human ether-à-go-go-related gene channels rescues electrical instability induced by the R56Q+/− long QT syndrome variant
R Venkateshappa, DV Hunter… - Cardiovascular …, 2023 - academic.oup.com
Aims Long QT syndrome type 2 (LQTS2) is associated with inherited variants in the cardiac
human ether-à-go-go-related gene (hERG) K+ channel. However, the pathogenicity of …
human ether-à-go-go-related gene (hERG) K+ channel. However, the pathogenicity of …
[HTML][HTML] Joint effects of CD8A and ICOS in Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS)
L Meng, Y Li, T Lv, C Lv, L Liu… - Journal of Cardiothoracic …, 2024 - ncbi.nlm.nih.gov
Background Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS) are
complex disorders with unclear origins, underscoring the need for in-depth molecular …
complex disorders with unclear origins, underscoring the need for in-depth molecular …
Family long QT syndrome type 2 associated with KCNH2 gene mutation: aborted sudden cardiac death
IAE Uribe, DM Lagos, ACC Diazleal… - … Archives for Chest …, 2024 - monaldi-archives.org
Monaldi Archives for Chest Disease Publisher's Disclaimer. E-publishing ahead of print is
increasingly important for the rapid d Page 1 Note: The publisher is not responsible for the content …
increasingly important for the rapid d Page 1 Note: The publisher is not responsible for the content …
Elucidating the Role of the His-Purkinje System During Long QT Mediated Arrhythmias
A Owusu-Mensah, O Berenfeld… - 2023 Annual Modeling …, 2023 - ieeexplore.ieee.org
Long QT type 2 (LQT2) is a cardiac disorder caused by mutations in the hERG gene, which
can lead to life-threatening arrhythmias. However, the exact involvement of the His-Purkinje …
can lead to life-threatening arrhythmias. However, the exact involvement of the His-Purkinje …
Small molecule targeting of cardiac hERG channels to protect against arrhythmias'
R Venkateshappa - 2023 - summit.sfu.ca
The hERG potassium channel encoded by the ether-a-go-go-related gene (hERG) is
essential for ventricular repolarization. These channels have a distinctive kinetic profile in …
essential for ventricular repolarization. These channels have a distinctive kinetic profile in …
Врождённый синдром удлинённого интервала QT
ВМ Делягин - Лечение и профилактика, 2021 - elibrary.ru
Врождённое удлинение интервала QT-генетически определённое аритмогенное
нарушение ионных каналов сердца с изменением реполяризации желудочков …
нарушение ионных каналов сердца с изменением реполяризации желудочков …
Detecting kcnh gene expression using whole mount in-situ hybridization in zebrafish animal model
D Mitra - 2022 - summit.sfu.ca
Long QT Syndrome type II (LQTS2) occurs due to defects in hKCNH2, which encodes the
Kv11. 1 (hERG) cardiac potassium channel. Multiple hKCNH2 transcripts (hERG1a …
Kv11. 1 (hERG) cardiac potassium channel. Multiple hKCNH2 transcripts (hERG1a …
Long QT syndrome: Presenting as bradycardia and VT.
D Goswami, J Saha, A Hembram… - European Journal of …, 2023 - search.ebscohost.com
Congenital long QT syndrome is an inherited cardiac disorder characterized by prolonged
ventricular depolarization and risk of sudden cardiac death. A 40 year old female patient …
ventricular depolarization and risk of sudden cardiac death. A 40 year old female patient …