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
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
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
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
Sequence and structural conservation reveal fingerprint residues in TRP channels.
Cabezas-Bratesco D et al.
Elife, 2022
Domain zipping and unzipping modulates TRPM4's properties in human cardiac conduction disease.
Xian W et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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
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 in an Iranian boy with a new de novo mutation in TRPV3.
Kariminejad A et al.
Clinical and Experimental Dermatology, 2014
Mutation of I696 and W697 in the TRP box of vanilloid receptor subtype I modulates allosteric channel activation.
Gregorio-Teruel L et al.
The Journal of General Physiology, 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