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
Physiological functions and pharmacological targeting of transient receptor potential channels.
Chubanov V et al.
Pharmacological Reviews, 2025
Satisfactory clinical response to erlotinib in a patient with Olmsted syndrome.
Oktem A et al.
Clinical and Experimental Dermatology, 2025
Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report.
Zhang J et al.
Frontiers in Medicine, 2025
The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome.
Mo R et al.
Journal of Dermatological Science, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma.
Hao Y et al.
Frontiers in Oncology, 2024
Pathogenesis and management of TRPV3-related Olmsted syndrome.
Lu A et al.
Frontiers in Genetics, 2024
Structural basis of TRPV3 inhibition by an antagonist.
Fan J et al.
Nature Chemical Biology, 2023
In silico analysis of TRPM4 variants of unknown clinical significance.
Tarnovskaya SI et al.
Plos One, 2023
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
Therapeutic inhibition of keratinocyte TRPV3 sensory channel by local anesthetic dyclonine.
Liu Q et al.
Elife, 2021
Mechanisms of proton inhibition and sensitization of the cation channel TRPV3.
Wang H et al.
The Journal of General Physiology, 2021
Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome.
Chiu FP et al.
Clinical and Experimental Dermatology, 2020
The novel high-frequency variant of TRPV3 p.A628T in East Asians showing faster sensitization in response to chemical agonists.
Choi SW et al.
Pflugers Archiv : European Journal of Physiology, 2019
Pharmacological Inhibition of the Temperature-Sensitive and Ca2+-Permeable Transient Receptor Potential Vanilloid TRPV3 Channel by Natural Forsythoside B Attenuates Pruritus and Cytotoxicity of Keratinocytes.
Zhang H et al.
The Journal of Pharmacology and Experimental Therapeutics, 2019
The S4---S5 linker - gearbox of TRP channel gating.
Hofmann L et al.
Cell Calcium, 2017
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
Identification of a heterozygous p.Gly568Val missense mutation in the TRPV3 gene in a Japanese patient with Olmsted syndrome: In silico analysis of TRPV3.
Nagai H et al.
The Journal of Dermatology, 2017
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes.
Yadav M et al.
Channels (austin, Tex.), 2017
Semidominant Inheritance in Olmsted Syndrome.
Cao X et al.
The Journal of Investigative Dermatology, 2016
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
Discovery in genetic skin disease: the impact of high throughput genetic technologies.
Maruthappu T et al.
Genes, 2014
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.
Eytan O et al.
The Journal of Investigative 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
Crystal structure of the N-terminal ankyrin repeat domain of TRPV3 reveals unique conformation of finger 3 loop critical for channel function.
Shi DJ et al.
Protein & Cell, 2013
Olmsted syndrome: exploration of the immunological phenotype.
Danso-Abeam D et al.
Orphanet Journal of Rare Diseases, 2013
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.
Lai-Cheong JE et al.
The British Journal of Dermatology, 2012
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.
Lin Z et al.
American Journal of Human Genetics, 2012
Conserved residues within the putative S4-S5 region serve distinct functions among thermosensitive vanilloid transient receptor potential (TRPV) channels.
Boukalova S et al.
The Journal of Biological Chemistry, 2010
The TRPV3 mutation associated with the hairless phenotype in rodents is constitutively active.
Xiao R et al.
Cell Calcium, 2008
Association of a mutation in TRPV3 with defective hair growth in rodents.
Asakawa M et al.
The Journal of Investigative Dermatology, 2006
TRPV3 Mutation-Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature.
Arias-Berrios G et al.
Pediatric Dermatology, 0