Associated Papers
The emerging role of TRPV4 in skeletal biology: Mechanotransduction, mutation, and therapeutic potential.
Lyu B et al.
Cell Calcium, 2026
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
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI et al.
Plos One, 2023
Domain zipping and unzipping modulates TRPM4's properties in human cardiac conduction disease.
Xian W et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
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
Influence of membrane cholesterol in the molecular evolution and functional regulation of TRPV4.
Kumari S et al.
Biochemical and Biophysical Research Communications, 2015
Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.
Kang SS et al.
Experimental & Molecular Medicine, 2012
TRPV4-associated skeletal dysplasias.
Nishimura G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Fiorillo C et al.
Neurogenetics, 2012
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
Lamandé SR et al.
Nature Genetics, 2011
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