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
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
Human TRPV4 engineering yields an ultrasound-sensitive actuator for sonogenetics.
Zhao L et al.
Biorxiv : the Preprint Server for Biology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI et al.
Plos One, 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
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
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
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Zhang H et al.
Journal of Human Genetics, 2015
Influence of membrane cholesterol in the molecular evolution and functional regulation of TRPV4.
Kumari S et al.
Biochemical and Biophysical Research Communications, 2015
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
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
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Andreucci E et al.
Orphanet Journal of Rare Diseases, 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
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