TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes

References

• Olmsted HC. Keratoderma palmaris et plantaris congenitalis: report of a case showing associated lesions of unusual location. Am J Dis Child 1927; 33:757-64; https://doi.org/10.1001/archpedi.1927.04130170055008
   Google Scholar
• Duchatelet S, Hovnanian A. Olmsted syndrome: clinical, molecular and therapeutic aspects. Orphanet J Rare Dis 2015; 10:33; PMID:25886873; https://doi.org/10.1186/s13023-015-0246-5
   PubMed Web of Science ®Google Scholar
• Requena L, Manzarbeitia F, Moreno C, Izquierdo MJ, Pastor MA, Carrasco L, Farina MC, Martin L. Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma. Am J Dermatopathol 2001; 23:514-20; PMID:11801792; https://doi.org/10.1097/00000372-200112000-00003
   PubMed Web of Science ®Google Scholar
• Mevorah B, Goldberg I, Sprecher E, Bergman R, Metzker A, Luria R, Gat A, Brenner S. Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. J Am Acad Dermatol 2005; 53:S266-72; PMID:16227106; https://doi.org/10.1016/j.jaad.2005.03.036
   PubMed Web of Science ®Google Scholar
• Tharini GK, Hema N, Jayakumar S, Parveen B. Olmsted syndrome: report of two cases. Indian J Dermatol 2011; 56:591-3; PMID:22121289; https://doi.org/10.4103/0019-5154.87166
   PubMedGoogle Scholar
• Vosynioti V, Kosmadaki M, Tagka A, Katsarou A. A case of Olmsted syndrome. Eur J Dermatol 2010; 20:837-8; PMID:20876042
   PubMed Web of Science ®Google Scholar
• Yaghoobi R, Omidian M, Sina N, Abtahian SA, Panahi-Bazaz MR. Olmsted syndrome in an Iranian family: report of two new cases. Arch Iran Med 2007; 10:246-9; PMID:17367233
   PubMed Web of Science ®Google Scholar
• Kumar P, Sharma PK, Kar HK. Olmsted syndrome. Indian J Dermatol 2008; 53:93-5; PMID:19881998; https://doi.org/10.4103/0019-5154.41657
   PubMedGoogle Scholar
• Batra P, Shah N. Olmsted syndrome–a rare syndrome with oral manifestations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004; 97:599-602; PMID:15153872; https://doi.org/10.1016/j.tripleo.2003.10.025
   PubMed Web of Science ®Google Scholar
• Poulin Y, Perry HO, Muller SA. Olmsted syndrome–congenital palmoplantar and periorificial keratoderma. J Am Acad Dermatol 1984; 10:600-10; PMID:6232300; https://doi.org/10.1016/S0190-9622(84)80264-9
   PubMed Web of Science ®Google Scholar
• Al-Mutairi N, Sharma AK, Nour-Eldin O, Al-Adawy E. Olmsted syndrome: report of a new case with unusual features. Clin Exp Dermatol 2005; 30:640-2; PMID:16197376; https://doi.org/10.1111/j.1365-2230.2005.01871.x
   PubMed Web of Science ®Google Scholar
• Kress DW, Seraly MP, Falo L, Kim B, Jegasothy BV, Cohen B. Olmsted syndrome. Case report and identification of a keratin abnormality. Arch Dermatol 1996; 132:797-800; PMID:8678572; https://doi.org/10.1001/archderm.1996.03890310083012
   PubMedGoogle Scholar
• Atherton DJ, Sutton C, Jones BM. Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted's syndrome). Br J Dermatol 1990; 122:245-52; PMID:2138494; https://doi.org/10.1111/j.1365-2133.1990.tb08271.x
   PubMed Web of Science ®Google Scholar
• Lucker GP, Steijlen PM. The Olmsted syndrome: mutilating palmoplantar and periorificial keratoderma. J Am Acad Dermatol 1994; 31:508-9; PMID:8077485; https://doi.org/10.1016/S0190-9622(09)80015-7
   PubMed Web of Science ®Google Scholar
• Armstrong AP, Percival N. Olmsted's syndrome. J R Soc Med 1997; 90:81-2; PMID:9068437
   PubMed Web of Science ®Google Scholar
• Larregue M, Callot V, Kanitakis J, Suau AM, Foret M. Olmsted syndrome: report of two new cases and literature review. J Dermatol 2000; 27:557-68; PMID:11052230; https://doi.org/10.1111/j.1346-8138.2000.tb02229.x
   PubMedGoogle Scholar
• Ogawa F, Udono M, Murota H, Shimizu K, Takahashi H, Ishida-Yamamoto A, Iizuka H, Katayama I. Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. Eur J Dermatol 2003; 13:524-8; PMID:14721769
   PubMed Web of Science ®Google Scholar
• Elise Tonoli R, De Villa D, Hubner Frainer R, Pizzarro Meneghello L, Ricachnevsky N, de Quadros M. Olmsted syndrome. Case Rep Dermatol Med 2012; 2012:927305; PMID:23320205; https://doi.org/10.1155/2012/927305
   PubMedGoogle Scholar
• Danso-Abeam D, Zhang J, Dooley J, Staats KA, Van Eyck L, Van Brussel T, Zaman S, Hauben E, Van de Velde M, Morren MA, et al. Olmsted syndrome: exploration of the immunological phenotype. Orphanet J Rare Dis 2013; 8:79; PMID:23692804; https://doi.org/10.1186/1750-1172-8-79
   PubMed Web of Science ®Google Scholar
• Smith GD, Gunthorpe MJ, Kelsell RE, Hayes PD, Reilly P, Facer P, Wright JE, Jerman JC, Walhin JP, Ooi L, et al. TRPV3 is a temperature-sensitive vanilloid receptor-like protein. Nature 2002; 418:186-90; PMID:12077606; https://doi.org/10.1038/nature00894
   PubMed Web of Science ®Google Scholar
• Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, et al. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet 2012; 90:558-64; PMID:22405088; https://doi.org/10.1016/j.ajhg.2012.02.006
   PubMed Web of Science ®Google Scholar
• Lai-Cheong JE, Sethuraman G, Ramam M, Stone K, Simpson MA, McGrath JA. Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome. Br J Dermatol 2012; 167:440-2; PMID:22835024; https://doi.org/10.1111/j.1365-2133.2012.11115.x
   PubMed Web of Science ®Google Scholar
• Nilius B, Biro T. TRPV3: a ‘more than skinny’ channel. Exp Dermatol 2013; 22:447-52; PMID:23800054; https://doi.org/10.1111/exd.12163
   PubMed Web of Science ®Google Scholar
• Cheng W, Yang F, Takanishi CL, Zheng J. Thermosensitive TRPV channel subunits coassemble into heteromeric channels with intermediate conductance and gating properties. J Gen Physiol 2007; 129:191-207; PMID:17325193; https://doi.org/10.1085/jgp.200709731
   PubMed Web of Science ®Google Scholar
• Mari M, Bujny MV, Zeuschner D, Geerts WJ, Griffith J, Petersen CM, Cullen PJ, Klumperman J, Geuze HJ. SNX1 defines an early endosomal recycling exit for sortilin and mannose 6-phosphate receptors. Traffic 2008; 9:380-93; PMID:18088323; https://doi.org/10.1111/j.1600-0854.2007.00686.x
   PubMed Web of Science ®Google Scholar
• Ishida-Yamamoto A, McGrath JA, Lam H, Iizuka H, Friedman RA, Christiano AM. The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. Am J Hum Genet 1997; 61:581-9; PMID:9326323; https://doi.org/10.1086/515518
   PubMed Web of Science ®Google Scholar
• Ishida-Yamamoto A, Kato H, Kiyama H, Armstrong DK, Munro CS, Eady RA, Nakamura S, Kinouchi M, Takahashi H, Iizuka H. Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma. J Invest Dermatol 2000; 115:1088-94; PMID:11121146; https://doi.org/10.1046/j.1523-1747.2000.00163.x
   PubMed Web of Science ®Google Scholar
• Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol 2013; 133:571-3; PMID:22931912; https://doi.org/10.1038/jid.2012.289
   PubMed Web of Science ®Google Scholar
• Xu H, Ramsey IS, Kotecha SA, Moran MM, Chong JA, Lawson D, Ge P, Lilly J, Silos-Santiago I, Xie Y, et al. TRPV3 is a calcium-permeable temperature-sensitive cation channel. Nature 2002; 418:181-6; PMID:12077604; https://doi.org/10.1038/nature00882
   PubMed Web of Science ®Google Scholar
• Sulk M, Seeliger S, Aubert J, Schwab VD, Cevikbas F, Rivier M, Nowak P, Voegel JJ, Buddenkotte J, Steinhoff M. Distribution and expression of non-neuronal transient receptor potential (TRPV) ion channels in rosacea. J Invest Dermatol 2012; 132:1253-62; PMID:22189789; https://doi.org/10.1038/jid.2011.424
   PubMed Web of Science ®Google Scholar
• Majhi RK, Sahoo SS, Yadav M, Pratheek BM, Chattopadhyay S, Goswami C. Functional expression of TRPV channels in T cells and their implications in immune regulation. FEBS J 2015; 282:2661-81; PMID:25903376; https://doi.org/10.1111/febs.13306
   PubMed Web of Science ®Google Scholar
• Asakawa M, Yoshioka T, Matsutani T, Hikita I, Suzuki M, Oshima I, Tsukahara K, Arimura A, Horikawa T, Hirasawa T, et al. Association of a mutation in TRPV3 with defective hair growth in rodents. J Invest Dermatol 2006; 126:2664-72; PMID:16858425; https://doi.org/10.1038/sj.jid.5700468
   PubMed Web of Science ®Google Scholar
• Xiao R, Tian J, Tang J, Zhu MX. The TRPV3 mutation associated with the hairless phenotype in rodents is constitutively active. Cell Calcium 2008; 43:334-43; PMID:17706768; https://doi.org/10.1016/j.ceca.2007.06.004
   PubMed Web of Science ®Google Scholar
• Cheng X, Jin J, Hu L, Shen D, Dong XP, Samie MA, Knoff J, Eisinger B, Liu ML, Huang SM, et al. TRP channel regulates EGFR signaling in hair morphogenesis and skin barrier formation. Cell 2010a; 141:331-43; https://doi.org/10.1016/j.cell.2010.03.013
   PubMed Web of Science ®Google Scholar
• Li C, Ma W, Yin S, Liang X, Shu X, Pei D, Egan MT, Huang J, Pan A, Li Z. Sorting nexin 11 regulates lysosomal degradation of plasma membrane TRPV3. Traffic 2016; 17:500-14; PMID:26818531
   PubMed Web of Science ®Google Scholar
• Cheng X, Shen D, Samie M, Xu H. Mucolipins: Intracellular TRPML1-3 channels. FEBS Lett 2010b; 584:2013-21; https://doi.org/10.1016/j.febslet.2009.12.056
   PubMed Web of Science ®Google Scholar
• Saito M, Hanson PI, Schlesinger P. Luminal chloride-dependent activation of endosome calcium channels: patch clamp study of enlarged endosomes. J Biol Chem 2007; 282:27327-33; PMID:17609211; https://doi.org/10.1074/jbc.M702557200
   PubMed Web of Science ®Google Scholar
• Goswami C, Dreger M, Jahnel R, Bogen O, Gillen C, Hucho F. Identification and characterization of a Ca2+ -sensitive interaction of the vanilloid receptor TRPV1 with tubulin. J Neurochem 2004; 91:1092-103; PMID:15569253; https://doi.org/10.1111/j.1471-4159.2004.02795.x
   PubMed Web of Science ®Google Scholar