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
Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading.
Harissa Z et al.
American Journal of Physiology. Cell Physiology, 2025
Conserved and Unique Mitochondrial Target Sequence of TRPV4 Can Independently Regulate Mitochondrial Functions.
Acharya TK et al.
Proteins, 2025
Tuning the Response of Synthetic Mechanogenetic Gene Circuits Using Mutations in TRPV4.
Kim YS et al.
Tissue Engineering. Part A, 2025
Roles for TRPV4 in disease: A discussion of possible mechanisms.
Hernández-Vega AM et al.
Cell Calcium, 2024
TRPV4-dependent Ca2+ influx determines cholesterol dynamics at the plasma membrane.
Kuwashima Y et al.
Biophysical Journal, 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
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
Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytes.
Dicks AR et al.
Elife, 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
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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
TRPing to the Point of Clarity: Understanding the Function of the Complex TRPV4 Ion Channel.
Toft-Bertelsen TL et al.
Cells, 2021
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.
Faye E et al.
Molecular Syndromology, 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
Modulation of TRPV4 by diverse mechanisms.
Darby WG et al.
The International Journal of Biochemistry & Cell Biology, 2016
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats.
Gandolfi B et al.
Osteoarthritis and Cartilage, 2016
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.
Sullivan JM et al.
Neurology. Genetics, 2015
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.
Wang SR et al.
Human Mutation, 2015
Influence of membrane cholesterol in the molecular evolution and functional regulation of TRPV4.
Kumari S et al.
Biochemical and Biophysical Research Communications, 2015
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
Grigelioniene G et al.
American Journal of Medical Genetics. Part A, 2014
Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations.
Leddy HA et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014
Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias.
Leddy HA et al.
Rare Diseases (austin, Tex.), 2014
Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
Wang SR et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Conserved gating elements in TRPC4 and TRPC5 channels.
Beck A et al.
The Journal of Biological Chemistry, 2013
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
TRPV4-associated skeletal dysplasias.
Nishimura G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
TRPV4 axonal neuropathy spectrum disorder.
McEntagart M
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2012
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients.
Cho TJ et al.
American Journal of Medical Genetics. Part A, 2012
Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.
Aharoni S et al.
American Journal of Medical Genetics. Part A, 2011
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
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.
Klein CJ et al.
Neurology, 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