Associated Papers
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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI et al.
Plos One, 2023
38100498 (PubMed )
Supplement: pone.0295974.s001.xlsx › Table_S1_Broad_Dataset_ST
TRPing to the Point of Clarity: Understanding the Function of the Complex TRPV4 Ion Channel.
Toft-Bertelsen TL et al.
Cells, 2021
Modulating the Mechanical Activation of TRPV4 at the Cell-Substrate Interface.
Sianati S et al.
Frontiers in Bioengineering and Biotechnology, 2020
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
30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM1_ESM.pdf
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
A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4.
Fleming J et al.
Neuromuscular Disorders : Nmd, 2016
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
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