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Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Lin Z, et al. Among authors: zhao j. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683118 Free PMC article.
PAR2 Mediates Itch via TRPV3 Signaling in Keratinocytes.
Zhao J, Munanairi A, Liu XY, Zhang J, Hu L, Hu M, Bu D, Liu L, Xie Z, Kim BS, Yang Y, Chen ZF. Zhao J, et al. J Invest Dermatol. 2020 Aug;140(8):1524-1532. doi: 10.1016/j.jid.2020.01.012. Epub 2020 Jan 29. J Invest Dermatol. 2020. PMID: 32004565 Free PMC article.
Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome.
Zhong W, Hu L, Cao X, Zhao J, Zhang X, Lee M, Wang H, Zhang J, Chen Q, Feng C, Duo L, Wang X, Tang L, Lin Z, Yang Y. Zhong W, et al. Among authors: zhao j. J Invest Dermatol. 2021 Mar;141(3):545-554. doi: 10.1016/j.jid.2020.06.035. Epub 2020 Aug 11. J Invest Dermatol. 2021. PMID: 32795529 Free article.
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