Associated Papers
The emerging role of TRPV4 in skeletal biology: Mechanotransduction, mutation, and therapeutic potential.
Lyu B et al.
Cell Calcium, 2026
From loss of Ca2+-influx to altered organelle temperature and energy failure: A neonatal-lethal TRPV4 mutant (L618P).
Mishra S et al.
Life Sciences, 2025
The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.
Robles-Espinoza K et al.
International Journal of Molecular Sciences, 2025
The impact of TRPV4 pathogenic mutations on barrier integrity.
Sampaio G et al.
Human Molecular Genetics, 2025
Conserved and Unique Mitochondrial Target Sequence of TRPV4 Can Independently Regulate Mitochondrial Functions.
Acharya TK et al.
Proteins, 2025
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
TRPV4 regulates osteoblast differentiation and mitochondrial function that are relevant for channelopathy.
Acharya TK et al.
Frontiers in Cell and Developmental Biology, 2023
Cytochrome C interacts with the pathogenic mutational hotspot region of TRPV4 and forms complexes that differ in mutation and metal ion-sensitive manner.
Das R et al.
Biochemical and Biophysical Research Communications, 2022
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
Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones.
Z G et al.
Balkan Journal of Medical Genetics : Bjmg, 2018
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
The S4---S5 linker - gearbox of TRP channel gating.
Hofmann L et al.
Cell Calcium, 2017
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.
Weinstein MM et al.
American Journal of Medical Genetics. Part A, 2016
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
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
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
Camacho N et al.
American Journal of Medical Genetics. Part A, 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