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Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA. Lee JYW, et al. Among authors: lee jyy. Am J Hum Genet. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014. Am J Hum Genet. 2017. PMID: 28157540 Free PMC article.
Loss of RhoE Function in Dermatofibroma Promotes Disorganized Dermal Fibroblast Extracellular Matrix and Increased Integrin Activation.
Endzhievskaya S, Hsu CK, Yang HS, Huang HY, Lin YC, Hong YK, Lee JYW, Onoufriadis A, Takeichi T, Yu-Yun Lee J, Shaw TJ, McGrath JA, Parsons M. Endzhievskaya S, et al. Among authors: lee jyw. J Invest Dermatol. 2023 Aug;143(8):1487-1497.e9. doi: 10.1016/j.jid.2023.01.019. Epub 2023 Feb 10. J Invest Dermatol. 2023. PMID: 36774976 Free article.
24 results