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
Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report.
Lugo E et al.
Cureus, 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
TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.
Taga A et al.
Annals of Clinical and Translational Neurology, 2022
TRPing to the Point of Clarity: Understanding the Function of the Complex TRPV4 Ion Channel.
Toft-Bertelsen TL et al.
Cells, 2021
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.
Deng S et al.
Neuromolecular Medicine, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.
Velilla J et al.
Neurology. Genetics, 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
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
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
Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth.
Jang Y et al.
The Journal of Biological Chemistry, 2012
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
Lamandé SR et al.
Nature Genetics, 2011
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
Screening newborns: current state and future challenges. Abstracts of the International Congress on Prevention of Congenital Diseases. Vienna, Austria. May 13-14, 2011.
Unknown Author
Journal of Inherited Metabolic Disease, 2011
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
Klein CJ et al.
Neurology, 2011
Structural biology of TRP channels.
Li M et al.
Advances in Experimental Medicine and Biology, 2011
Transient receptor potential genes and human inherited disease.
Everett KV
Advances in Experimental Medicine and Biology, 2011
The genetics of spinal muscular atrophies.
Wee CD et al.
Current Opinion in Neurology, 2010
Don't change that (calcium) channel: mutations in the same calcium channel gene can cause multiple distinct phenotypes.
Sawkins JN
Clinical Genetics, 2010
TRPV4-pathy, a novel channelopathy affecting diverse systems.
Dai J et al.
Journal of Human Genetics, 2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
Zimoń M et al.
Brain : a Journal of Neurology, 2010
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
Deng HX et al.
Nature Genetics, 2010
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Auer-Grumbach M et al.
Nature 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