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 +5 more
wiley +1 more source
No disease-modifying therapy is currently available for Parkinson's disease (PD), the second most common neurodegenerative disease. The long nonmotor prodromal phase of PD is a window of opportunity for early detection and intervention.
Kovacheva, L (15753110) +10 more
core
Congenital Long QT Syndrome:: A cardiac ion channelopathy with important anesthetic considerations [PDF]
Context: Congenital long QT syndrome (cLQTS) is the most common genetic cardiac ion channelopathy in the US. Patients with cLQTS are at risk for ventricular tachycardia (VT) in the “torsades de pointes” (TdP) pattern from physical and emotional stress ...
Harris, David E
core +1 more source
Is acquired Piezo2 channelopathy the critical impairment of the brain axes and dysbiosis?
The current speculative review puts into perspectives how transplanted altered microbiota from Alzheimer’s patients initiates the impairment of the microbiota-gut-brain axis of the healthy recipient, leading to impaired cognition primarily arising from ...
Balazs Sonkodi
core +1 more source
The Relationship Between Gastric Myoelectric Activity and SCN5A Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia - A Pilot Study [PDF]
BACKGROUND/AIMS: SCN5A encodes the cardiac-specific Na(V)1.5 sodium channel, and Brugada syndrome is a cardiac conduction disorder associated with sodium channel α-subunit (SCN5A) mutation.
김지현 +5 more
core
Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation
International audienceStore-operated calcium entry (SOCE) plays a crucial role in maintaining cellular calcium homeostasis. This mechanism involves proteins, such as stromal interaction molecule 1 (STIM1) and ORAI1.
Alary, Benedicte +9 more
core +1 more source
Presynaptic action potential modulation in a neurological channelopathy [PDF]
Channelopathies are disorders caused by inherited mutations of specific ion channels. Neurological channelopathies in particular offer a window into fundamental physiological functions such as action potential modulation, synaptic function and ...
Vivekananda, Umesh Saravanan
core
Late-Onset Episodic Weakness With Hyperkalemia Suggestive of Hyperkalemic Periodic Paralysis. [PDF]
Pandey HK +3 more
europepmc +1 more source
Piezo2-Initiated Ultrafast Signaling and Its Acquired Channelopathy in Light of Quantum Gravity Theory. [PDF]
Sonkodi B.
europepmc +1 more source

