Combined clinical, structural, and cellular studies discriminate pathogenic and benign TRPV4 variants
SH Berth, L Vo, DH Kwon, T Grider, YS Damayanti… - Brain, 2024 - academic.oup.com
Dominant mutations in the calcium-permeable ion channel TRPV4 (transient receptor
potential vanilloid 4) cause diverse and largely distinct channelopathies, including inherited …
potential vanilloid 4) cause diverse and largely distinct channelopathies, including inherited …
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations
G Kosmanopoulos, JK Donohue, M Hoke, S Thomas… - Brain, 2024 - academic.oup.com
Dominant missense mutations of the calcium-permeable cation channel TRPV4 cause
Charcot-Marie-Tooth disease (CMT) type 2C and two forms of distal spinal muscular …
Charcot-Marie-Tooth disease (CMT) type 2C and two forms of distal spinal muscular …
Identification and properties of TRPV4 mutant channels present in polycystic kidney disease patients
AM Hernández-Vega, I Llorente… - Function, 2024 - academic.oup.com
Polycystic kidney disease (PKD), a disease characterized by enlargement of the kidney
through cystic growth is the fourth leading cause of end-stage kidney disease world-wide …
through cystic growth is the fourth leading cause of end-stage kidney disease world-wide …