Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.L619F
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TRPV4

NM_021625.5:p.L619F

Associated Papers

The emerging role of TRPV4 in skeletal biology: Mechanotransduction, mutation, and therapeutic potential.

Lyu B et al.

Cell Calcium, 2026

Roles for TRPV4 in disease: A discussion of possible mechanisms.

Hernández-Vega AM et al.

Cell Calcium, 2024

TRPV4-mediated Ca2+ deregulation causes mitochondrial dysfunction via the AKT/α-synuclein pathway in dopaminergic neurons.

Sun X et al.

Faseb Bioadvances, 2023

Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytes.

Dicks AR et al.

Elife, 2023

De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.

Ragamin A et al.

Journal of Medical Genetics, 2022

Impaired neurite development and mitochondrial dysfunction associated with calcium accumulation in dopaminergic neurons differentiated from the dental pulp stem cells of a patient with metatropic dysplasia.

Sun X et al.

Biochemistry and Biophysics Reports, 2021

Accelerated osteoblastic differentiation in patient-derived dental pulp stem cells carrying a gain-of-function mutation of TRPV4 associated with metatropic dysplasia.

Han X et al.

Biochemical and Biophysical Research Communications, 2020

Novel gain-of-function mutation of TRPV4 associated with accelerated chondrogenic differentiation of dental pulp stem cells derived from a patient with metatropic dysplasia.

Nonaka K et al.

Biochemistry and Biophysics Reports, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."