Olmsted syndrome causing point mutants of TRPV3 (G568C and G568D) show defects in intracellular Ca2+-mobilization and induce lysosomal defects
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference18 articles.
1. Keratodermia palmaris et plantaris congenitalis report of a case showing associated lesions of unusual location;Olmsted;Am. J. Dis. Child.,1927
2. Olmsted syndrome;Ma;J. Clin. Dermatol.,2006
3. Two familial cases of Olmsted-like syndrome with a G573V mutation of the TRPV3 gene;Zhi;Clin. Exp. Dermatol.,2016
4. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome;Lin;Am. J. Hum. Genet.,2012
5. Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3;Nemer;Arch. Dermatol. Res.,2017
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1. Thermoring basis for the TRPV3 bio-thermometer;Scientific Reports;2023-12-07
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3. TRPV3 Ion Channel: From Gene to Pharmacology;International Journal of Molecular Sciences;2023-05-11
4. Human skeletal dysplasia causing L596P-mutant alters the conserved amino acid pattern at the lipid-water-Interface of TRPV4;Biochimica et Biophysica Acta (BBA) - Biomembranes;2023-02
5. Temperature Sensitive Contact Modes Allosterically Gate TRPV3;2023-01-03
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