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Germline Mutation of PLCD1 Contributes to Human Multiple Pilomatricomas through Protein Kinase D/Extracellular Signal-Regulated Kinase1/2 Cascade and TRPV6.
Liu K, Luo J, Ma T, Fang M, Xu Z, Wang L, Zhang XY, Wen J, Liu C, Cao Y, Li X, Zhang L, Guo A, Wang N, Yi P, Liu JY. Liu K, et al. Among authors: liu c, liu jy. J Invest Dermatol. 2021 Mar;141(3):533-544. doi: 10.1016/j.jid.2020.05.121. Epub 2020 Aug 11. J Invest Dermatol. 2021. PMID: 32795530 Free article.
Gain-of-function mutations in SCN11A cause familial episodic pain.
Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY. Zhang XY, et al. Among authors: liu jy. Am J Hum Genet. 2013 Nov 7;93(5):957-66. doi: 10.1016/j.ajhg.2013.09.016. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207120 Free PMC article.
3,023 results