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74,695 results

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Page 1
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ. Zhang X, et al. Among authors: yang s, yang x. J Med Genet. 2012 Dec;49(12):727-30. doi: 10.1136/jmedgenet-2012-101134. Epub 2012 Oct 25. J Med Genet. 2012. PMID: 23099647 Free PMC article.
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.
Guo BR, Zhang X, Chen G, Zhang JG, Sun LD, Du WD, Zhang Q, Cui Y, Zhu J, Tang XF, Xiao R, Liu Y, Li M, Tang HY, Yang X, Cheng H, Li M, Gao M, Li P, Wang JB, Xu FP, Zuo XB, Zheng XD, Zhang XG, Yang L, Liu JJ, Wang J, Yang S, Zhang XJ. Guo BR, et al. Among authors: yang s, yang l, yang x. J Med Genet. 2012 Sep;49(9):563-8. doi: 10.1136/jmedgenet-2012-100868. J Med Genet. 2012. PMID: 22972947
A large-scale screen for coding variants predisposing to psoriasis.
Tang H, Jin X, Li Y, Jiang H, Tang X, Yang X, Cheng H, Qiu Y, Chen G, Mei J, Zhou F, Wu R, Zuo X, Zhang Y, Zheng X, Cai Q, Yin X, Quan C, Shao H, Cui Y, Tian F, Zhao X, Liu H, Xiao F, Xu F, Han J, Shi D, Zhang A, Zhou C, Li Q, Fan X, Lin L, Tian H, Wang Z, Fu H, Wang F, Yang B, Huang S, Liang B, Xie X, Ren Y, Gu Q, Wen G, Sun Y, Wu X, Dang L, Xia M, Shan J, Li T, Yang L, Zhang X, Li Y, He C, Xu A, Wei L, Zhao X, Gao X, Xu J, Zhang F, Zhang J, Li Y, Sun L, Liu J, Chen R, Yang S, Wang J, Zhang X. Tang H, et al. Among authors: yang s, yang b, yang l, yang x. Nat Genet. 2014 Jan;46(1):45-50. doi: 10.1038/ng.2827. Epub 2013 Nov 10. Nat Genet. 2014. PMID: 24212883
Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).
Liu Y, Gao M, Lv YM, Yang X, Ren YQ, Jiang T, Zhang X, Guo BR, Li M, Zhang Q, Zhang P, Zhou FS, Chen G, Yin XY, Zuo XB, Sun LD, Zheng XD, Zhang SM, Liu JJ, Zhou Y, Li YR, Wang J, Wang J, Yang HM, Yang S, Li RQ, Zhang XJ. Liu Y, et al. Among authors: yang s, yang hm, yang x. J Invest Dermatol. 2011 Jul;131(7):1570-2. doi: 10.1038/jid.2011.62. Epub 2011 Mar 24. J Invest Dermatol. 2011. PMID: 21430701 Free article. No abstract available.
Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasm.
Hou Y, Song L, Zhu P, Zhang B, Tao Y, Xu X, Li F, Wu K, Liang J, Shao D, Wu H, Ye X, Ye C, Wu R, Jian M, Chen Y, Xie W, Zhang R, Chen L, Liu X, Yao X, Zheng H, Yu C, Li Q, Gong Z, Mao M, Yang X, Yang L, Li J, Wang W, Lu Z, Gu N, Laurie G, Bolund L, Kristiansen K, Wang J, Yang H, Li Y, Zhang X, Wang J. Hou Y, et al. Among authors: yang l, yang x, yang h. Cell. 2012 Mar 2;148(5):873-85. doi: 10.1016/j.cell.2012.02.028. Cell. 2012. PMID: 22385957 Free article.
Discovery of biclonal origin and a novel oncogene SLC12A5 in colon cancer by single-cell sequencing.
Yu C, Yu J, Yao X, Wu WK, Lu Y, Tang S, Li X, Bao L, Li X, Hou Y, Wu R, Jian M, Chen R, Zhang F, Xu L, Fan F, He J, Liang Q, Wang H, Hu X, He M, Zhang X, Zheng H, Li Q, Wu H, Chen Y, Yang X, Zhu S, Xu X, Yang H, Wang J, Zhang X, Sung JJ, Li Y, Wang J. Yu C, et al. Among authors: yang x, yang h. Cell Res. 2014 Jun;24(6):701-12. doi: 10.1038/cr.2014.43. Epub 2014 Apr 4. Cell Res. 2014. PMID: 24699064 Free PMC article.
Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome.
Cao Y, He M, Gao Z, Peng Y, Li Y, Li L, Zhou W, Li X, Zhong X, Lei Y, Su T, Wang H, Jiang Y, Yang L, Wei W, Yang X, Jiang X, Liu L, He J, Ye J, Wei Q, Li Y, Wang W, Wang J, Ning G. Cao Y, et al. Among authors: yang l, yang x. Science. 2014 May 23;344(6186):913-7. doi: 10.1126/science.1249480. Epub 2014 Apr 3. Science. 2014. PMID: 24700472
Lanosterol reverses protein aggregation in cataracts.
Zhao L, Chen XJ, Zhu J, Xi YB, Yang X, Hu LD, Ouyang H, Patel SH, Jin X, Lin D, Wu F, Flagg K, Cai H, Li G, Cao G, Lin Y, Chen D, Wen C, Chung C, Wang Y, Qiu A, Yeh E, Wang W, Hu X, Grob S, Abagyan R, Su Z, Tjondro HC, Zhao XJ, Luo H, Hou R, Jefferson J, Perry P, Gao W, Kozak I, Granet D, Li Y, Sun X, Wang J, Zhang L, Liu Y, Yan YB, Zhang K. Zhao L, et al. Among authors: yang x. Nature. 2015 Jul 30;523(7562):607-11. doi: 10.1038/nature14650. Epub 2015 Jul 22. Nature. 2015. PMID: 26200341
Corrigendum: Lanosterol reverses protein aggregation in cataracts.
Zhao L, Chen XJ, Zhu J, Xi YB, Yang X, Hu LD, Ouyang H, Patel SH, Jin X, Lin D, Wu F, Flagg K, Cai H, Li G, Cao G, Lin Y, Chen D, Wen C, Chung C, Wang Y, Qiu A, Yeh E, Wang W, Hu X, Grob S, Abagyan R, Su Z, Tjondro HC, Zhao XJ, Luo H, Hou R, Perry JJ, Gao W, Kozak I, Granet D, Li Y, Sun X, Wang J, Zhang L, Liu Y, Yan YB, Zhang K. Zhao L, et al. Among authors: yang x. Nature. 2015 Oct 22;526(7574):595. doi: 10.1038/nature15253. Epub 2015 Aug 26. Nature. 2015. PMID: 26308894 No abstract available.
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