Associated Papers
The emerging role of TRPV4 in skeletal biology: Mechanotransduction, mutation, and therapeutic potential.
Lyu B et al.
Cell Calcium, 2026
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.
Dong L et al.
Clinical Genetics, 2025
The impact of TRPV4 pathogenic mutations on barrier integrity.
Sampaio G et al.
Human Molecular Genetics, 2025
Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.
Güneş N et al.
Pediatric Radiology, 2025
Roles for TRPV4 in disease: A discussion of possible mechanisms.
Hernández-Vega AM et al.
Cell Calcium, 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
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
TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂.
Takahashi N et al.
Nature Communications, 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
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-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
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
TRPV4-pathy, a novel channelopathy affecting diverse systems.
Dai J et al.
Journal of Human Genetics, 2010