Associated Papers
The emerging role of TRPV4 in skeletal biology: Mechanotransduction, mutation, and therapeutic potential.
Lyu B et al.
Cell Calcium, 2026
Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice.
Nevarez L et al.
Jci Insight, 2026
Profiling the TRPV4 ankyrin repeat domain interactome and its disruption by neuromuscular disease-causing mutations.
Loder AK et al.
The Journal of Biological Chemistry, 2026
The impact of TRPV4 pathogenic mutations on barrier integrity.
Sampaio G et al.
Human Molecular Genetics, 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
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI et al.
Plos One, 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
Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension.
McCray BA et al.
Nature Communications, 2021
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
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats.
Gandolfi B et al.
Osteoarthritis and Cartilage, 2016
Single point mutations of aromatic residues in transmembrane helices 5 and -6 differentially affect TRPV4 activation by 4α-PDD and hypotonicity: implications for the role of the pore region in regulating TRPV4 activity.
Klausen TK et al.
Cell Calcium, 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
TRPV4-associated skeletal dysplasias.
Nishimura G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
Lamandé SR et al.
Nature Genetics, 2011
Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations.
Loukin S et al.
Plos One, 2011
Transient receptor potential genes and human inherited disease.
Everett KV
Advances in Experimental Medicine and Biology, 2011
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.
Chen DH et al.
Neurology, 2010
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
The vanilloid transient receptor potential channel TRPV4: from structure to disease.
Everaerts W et al.
Progress in Biophysics and Molecular Biology, 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
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Landouré G et al.
Nature Genetics, 2010
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Krakow D et al.
American Journal of Human Genetics, 2009
[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