Associated Papers
From loss of Ca2+-influx to altered organelle temperature and energy failure: A neonatal-lethal TRPV4 mutant (L618P).
Mishra S et al.
Life Sciences, 2025
The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome.
Mo R et al.
Journal of Dermatological Science, 2024
Pathogenesis and management of TRPV3-related Olmsted syndrome.
Lu A et al.
Frontiers in Genetics, 2024
Olmsted syndrome causing point mutants of TRPV3 (G568C and G568D) show defects in intracellular Ca2+-mobilization and induce lysosomal defects.
Jain A et al.
Biochemical and Biophysical Research Communications, 2022
TRP channels in health and disease at a glance.
Yue L et al.
Journal of Cell Science, 2021
The Ca2+-Permeable Cation Transient Receptor Potential TRPV3 Channel: An Emerging Pivotal Target for Itch and Skin Diseases.
Wang G et al.
Molecular Pharmacology, 2017
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes.
Yadav M et al.
Channels (austin, Tex.), 2017
Two familial cases of Olmsted-like syndrome with a G573V mutation of the TRPV3 gene.
Zhi YP et al.
Clinical and Experimental Dermatology, 2016
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.
Ni C et al.
Scientific Reports, 2016
Expanding the Phenotypic Spectrum of Olmsted Syndrome.
Wilson NJ et al.
The Journal of Investigative Dermatology, 2015
Olmsted syndrome: clinical, molecular and therapeutic aspects.
Duchatelet S et al.
Orphanet Journal of Rare Diseases, 2015
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations.
Duchatelet S et al.
The British Journal of Dermatology, 2014
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3.
Kariminejad A et al.
Clinical and Experimental Dermatology, 2014
Olmsted syndrome: exploration of the immunological phenotype.
Danso-Abeam D et al.
Orphanet Journal of Rare Diseases, 2013
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