Associated Papers
The impact of TRPV4 pathogenic mutations on barrier integrity.
Sampaio G et al.
Human Molecular Genetics, 2025
Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.
Berth SH et al.
Brain : a Journal of Neurology, 2025
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos GP et al.
Brain : a Journal of Neurology, 2025
Roles for TRPV4 in disease: A discussion of possible mechanisms.
Hernández-Vega AM et al.
Cell Calcium, 2024
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
TRPing to the Point of Clarity: Understanding the Function of the Complex TRPV4 Ion Channel.
Toft-Bertelsen TL et al.
Cells, 2021
Yield of next-generation neuropathy gene panels in axonal neuropathies.
Lee DC et al.
Journal of the Peripheral Nervous System : Jpns, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.
Sullivan JM et al.
Neurology. Genetics, 2015
TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂.
Takahashi N et al.
Nature Communications, 2014
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A et al.
Human Molecular Genetics, 2014
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.
Fawcett KA et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.
Inada H et al.
Biochemistry, 2012
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Fiorillo C et al.
Neurogenetics, 2012
TRPV4 axonal neuropathy spectrum disorder.
McEntagart M
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2012
Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.
Ajroud-Driss S et al.
Current Neurology and Neuroscience Reports, 2011
Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.
Fecto F et al.
The Journal of Biological Chemistry, 2011
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
Klein CJ et al.
Neurology, 2011
[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