Associated Papers
The emerging role of TRPV4 in skeletal biology: Mechanotransduction, mutation, and therapeutic potential.
Lyu B et al.
Cell Calcium, 2026
Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4.
Evans EF et al.
Jbmr Plus, 2025
Roles for TRPV4 in disease: A discussion of possible mechanisms.
Hernández-Vega AM et al.
Cell Calcium, 2024
Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.
Boeykens F et al.
Frontiers in Veterinary Science, 2024
Osteochondrodysplasia and the c.1024G>T variant of TRPV4 gene in Scottish Fold cats: genetic and radiographic evaluation.
Sartore S et al.
Journal of Feline Medicine and Surgery, 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
Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.
Anderson H et al.
Plos Genetics, 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
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats.
Gandolfi B et al.
Osteoarthritis and Cartilage, 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
Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.
Inada H et al.
Biochemistry, 2012
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
Lamandé SR et al.
Nature Genetics, 2011
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
[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