Pathogenic Variants in the Polycystin Pore Helix Cause Distinct Forms of Channel Dysfunction

Medicine, Basic Medical Sciences, Nephrology, Life Sciences, Cell Biology, Biochemistry, Genetics, Biophysics,
autosomal dominant polycystic kidney disease   polycystin   PKD2   ion channels   cryo-EM   channel dysfunction   protein assembly  

Molecular Mechanism Analysis of ADPKD Pathogenic Variants in Ion Channels – In-depth Interpretation of PNAS 2025 Latest Original Research I. Academic Research Background and Scientific Significance Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common monogenic disorders worldwide, affecting millions of individuals. The pat...

Modeling Ocular Surface Ion and Water Transport by Generation of Lipid- and Mucin-Producing Human Meibomian Gland and Conjunctival Epithelial Cells

Medicine, Ophthalmology, Life Sciences, Cell Biology, Biochemistry, Biophysics,
Meibomian gland   conjunctival epithelial cells   ion channels   aquaporin   tear secretion  

Modeling of Ion and Water Transport on the Human Ocular Surface Background Introduction The ocular surface plays a crucial role in human physiology and diseases, especially the stability and composition of the tear film, which directly impact ocular surface health. The tear film consists of three layers: an outer lipid layer (secreted by the meibom...

Revisiting Distinct Nerve Excitability Patterns in Patients with Amyotrophic Lateral Sclerosis

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Biophysics,
ion channels   amyotrophic lateral sclerosis   progression rate   composite measures   nerve excitability   emg  

“Revisiting Distinct Nerve Excitability Patterns in Patients with Amyotrophic Lateral Sclerosis” Academic Background Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disease characterized by the progressive loss of central and peripheral motor neurons. Although the disease is clinically and genetically heterogeneous, axonal hy...