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A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.
Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY. Tsoi H, et al. Among authors: chan hy, chan tf, chan ay. J Med Genet. 2014 Sep;51(9):590-5. doi: 10.1136/jmedgenet-2014-102333. Epub 2014 Jul 25. J Med Genet. 2014. PMID: 25062847 Free PMC article.
Progression of diabetic kidney disease and trajectory of kidney function decline in Chinese patients with Type 2 diabetes.
Jiang G, Luk AOY, Tam CHT, Xie F, Carstensen B, Lau ESH, Lim CKP, Lee HM, Ng ACW, Ng MCY, Ozaki R, Kong APS, Chow CC, Yang X, Lan HY, Tsui SKW, Fan X, Szeto CC, So WY, Chan JCN, Ma RCW; Hong Kong Diabetes Register TRS Study Group. Jiang G, et al. Kidney Int. 2019 Jan;95(1):178-187. doi: 10.1016/j.kint.2018.08.026. Epub 2018 Nov 8. Kidney Int. 2019. PMID: 30415941 Free article.
Genome maps across 26 human populations reveal population-specific patterns of structural variation.
Levy-Sakin M, Pastor S, Mostovoy Y, Li L, Leung AKY, McCaffrey J, Young E, Lam ET, Hastie AR, Wong KHY, Chung CYL, Ma W, Sibert J, Rajagopalan R, Jin N, Chow EYC, Chu C, Poon A, Lin C, Naguib A, Wang WP, Cao H, Chan TF, Yip KY, Xiao M, Kwok PY. Levy-Sakin M, et al. Among authors: chan tf. Nat Commun. 2019 Mar 4;10(1):1025. doi: 10.1038/s41467-019-08992-7. Nat Commun. 2019. PMID: 30833565 Free PMC article.
344 results