Associated Papers
The emerging role of TRPV4 in skeletal biology: Mechanotransduction, mutation, and therapeutic potential.
Lyu B et al.
Cell Calcium, 2026
Conserved and Unique Mitochondrial Target Sequence of TRPV4 Can Independently Regulate Mitochondrial Functions.
Acharya TK et al.
Proteins, 2025
Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.
Berth SH et al.
Brain : a Journal of Neurology, 2025
Recent advances on the structure and the function relationships of the TRPV4 ion channel.
Sánchez-Hernández R et al.
Channels (austin, Tex.), 2024
Roles for TRPV4 in disease: A discussion of possible mechanisms.
Hernández-Vega AM et al.
Cell Calcium, 2024
Progesterone interacts with the mutational hot-spot of TRPV4 and acts as a ligand relevant for fast Ca2+-signalling.
Dubey NK et al.
Biochimica Et Biophysica Acta. Biomembranes, 2023
A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.
Chen H et al.
Bmc Neurology, 2023
Human skeletal dysplasia causing L596P-mutant alters the conserved amino acid pattern at the lipid-water-Interface of TRPV4.
Das R et al.
Biochimica Et Biophysica Acta. Biomembranes, 2023
TRPV4 regulates osteoblast differentiation and mitochondrial function that are relevant for channelopathy.
Acharya TK et al.
Frontiers in Cell and Developmental Biology, 2023
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI et al.
Plos One, 2023
TRPing to the Point of Clarity: Understanding the Function of the Complex TRPV4 Ion Channel.
Toft-Bertelsen TL et al.
Cells, 2021
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?
Damseh N et al.
Orphanet Journal of Rare Diseases, 2019
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
Cryo-EM and X-ray structures of TRPV4 reveal insight into ion permeation and gating mechanisms.
Deng Z et al.
Nature Structural & Molecular Biology, 2018
The S4---S5 linker - gearbox of TRP channel gating.
Hofmann L et al.
Cell Calcium, 2017
L596-W733 bond between the start of the S4-S5 linker and the TRP box stabilizes the closed state of TRPV4 channel.
Teng J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
TRPV4-associated skeletal dysplasias.
Nishimura G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
Dai J et al.
Journal of Medical Genetics, 2010
TRPV4-pathy, a novel channelopathy affecting diverse systems.
Dai J et al.
Journal of Human Genetics, 2010
[Case of muscular atrophy in scapuloperoneal syndrome].
Nagatani M et al.
Naika. Internal Medicine, 1967
[CASE OF CHARCOT-MARIE MUSCULAR ATROPHY IN A FAMILY FROM VALAIS].
LORENZ J
Journal De Genetique Humaine, 1964
Scapuloperoneal muscular atrophy: Davidenkow's syndrome. Family report.
Milanov I et al.
Electromyography and Clinical Neurophysiology, 0