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
Satisfactory clinical response to erlotinib in a patient with Olmsted syndrome.
Oktem A et al.
Clinical and Experimental Dermatology, 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
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
Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome.
Chiu FP et al.
Clinical and Experimental Dermatology, 2020
Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene.
Choi JY et al.
Yonsei Medical Journal, 2018
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
Semidominant Inheritance in Olmsted Syndrome.
Cao X et al.
The Journal of Investigative 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
TRPV3 Mutation-Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature.
Arias-Berrios G et al.
Pediatric Dermatology, 0
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