Associated Papers
The emerging role of TRPV4 in skeletal biology: Mechanotransduction, mutation, and therapeutic potential.
Lyu B et al.
Cell Calcium, 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
TRPV4-dependent Ca2+ influx determines cholesterol dynamics at the plasma membrane.
Kuwashima Y et al.
Biophysical Journal, 2024
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
Human mutations highlight an intersubunit cation-π bond that stabilizes the closed but not open or inactivated states of TRPV channels.
Teng J et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
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
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
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
Lamandé SR et al.
Nature Genetics, 2011
TRPV4-pathy, a novel channelopathy affecting diverse systems.
Dai J et al.
Journal of Human Genetics, 2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
Nishimura G et al.
American Journal of Medical Genetics. Part A, 2010