北京儿童医院

医学遗传中心
2016-10-25 17:09:12
浏览次数:

1. Wei ZB, Yuan YF, Jaouen F, Ma MS, Hao CJ, Zhang Z, Chen Q, Yuan Z, Yu L, Beurrier C*, Li W*. SLC35D3 increases autophagic activity in midbrain dopaminergic neurons by enhancing BECN1-ATG14-PIK3C3 complex formation. Autophagy. 2016 Jul 2;12(7):1168-79.

2.Zhang W, Ren H, Xu C, Zhu C, Wu H, Liu D, Wang J, Liu L, Li W, Ma Q, Du L, Zheng M, Zhang C, Liu J, Chen Q. Hypoxic mitophagy regulates mitochondrial quality and platelet activation and determines severity of I/R heart injury. Elife, 2016; 5: e21407.

3. Ma J, Zhang Z, Yang L, Kriston-Vizi J, Cutler DF*, Li W*. BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells. J Genet Genomics, 2016; 43(12): 686-693.

4. Zhou W#, He Q# (# co-first authors), Zhang C, He X, Liu F*, Li W*. BLOS2 negatively regulates Notch signaling during neural and hematopoietic stem and progenitor cell development. Elife, 2016; 5: e18108.

5.Wei AH*,#, Yuan YF#, Bai DY# (# co-first authors), Ma J, Hao ZH, Zhang YZ, Yu JY, Zhou ZY, Yang L, Yang XM, Li L, Li W*. NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermasky-Pudlak syndrome patients. Pigment Cell Melanoma Res, 2016; 29(6): 702-706.

6.Hao ZH, Li W*. Muted protein is involved in the targeting of CD63 to large dense core vesicles of chromaffin cells. Heraditas (Beijing), 2016; 38(8): 718-724. [Chinese]

7.Wei ZB#, Yuan YF# (# co-first authors), Jaouen F, Ma MS, Hao CJ, Zhang Z, Chen Q, Yuan ZQ, Yu L, Beurrier C, Li W*. SLC35D3 increases autophagic activity in mid-brain dopaminergic neurons by enhancing the BECN1-ATG14-PIK3C3 complex formation. Autophagy, 2016; 12(7): 1168-1179.

8.Klionsky DJ, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy, 2016; 12(1): 1-222.

9.Hao Z, Wei L, Feng Y, Chen X, Du W, Ma J, Zhou Z, Chen L, Li W*. Impaired maturation of large dense core vesicles in muted-deficient adrenal chromaffin cells. J Cell Sci, 2015; 128(7): 1365-1374.

10.Wang H, Yuan YF, Zhang Z, Yan H, Feng YQ, Li W*. Dysbindin-1C is required for the survival of hilar mossy cells and the maturation of adult newborn neurons in dentate gyrus. J Biol Chem, 2014; 289(42): 29060-29072.

11.Zhang AL#, He X#, Zhang L, Yang L, Woodman P, Li W*. Biogenesis of lysosome-related organelles complex-1 subunit 1 (BLOS1) interacts with sorting nexin 2 and the endosomal sorting complex required for transport-I (ESCRT-I) component TSG101 to mediate the sorting of epidermal growth factor receptor into endosomal compartments. J Biol Chem, 2014; 289(42): 29180-29194.

12.Zhang Z#, Hao CJ#, Li CG, Zang DJ, Zhao J, Li XN, Wei AH, Wei ZB, Yang L, He X, Zhen XC,  Gao X, Speakman JR, Li W*. Mutation of SLC35D3 causes metabolic syndrome by impairing dopamine signaling in striatal D1 neurons. PLoS Genet, 2014; 10(2): e1004124.

13.Wei AH*, #, Zang DJ#, Zhang Z#, Liu XZ#, He X, Yang L, Wang Y, Zhou ZY, Zhang MR, Dai LL Yang XM, Li W*. Exome sequencing identifies SLC24A5 as the candidate gene for non-syndromic oculocutaneous albinism. J Invest Dermatol, 2013; 133(7): 1834-1840. 

14.Wei AH*, Li W*. Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell Melanoma Res, 2013; 26(2): 176-192.

15.Yang Q, He X*, Yang L, Zhou ZY, Cullinane AR, Wei AH, Zhang Z, Hao ZH, Zhang AL, He M, Feng YQ, Gao X, Gahl WA, Huizing M, Li W*. The BLOS1 interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic, 2012; 13(8): 1160-1169.

16.Wang L#, He F#, Bu J#, Zhen Y#, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z. ABCB6 mutations cause ocular coloboma. Am J Hum Genet, 2012; 90(1): 40-48.

17.Cui YY, Li XG, Chen QG, He X, Yang Q, Zhang AL, Yu X, Chen H, Liu NY, Xie Q, Yang WC, Zuo JR, Palme K*, Li W*. BLOS1, a putative BLOC-1 subunit, interacts with SNX1 and modulates root growth in Arabidopsis. J Cell Sci, 2010; 123(21): 3727-3733.

18.Guo XL, Ruan HB, Li Y, Gao X, Li W*. Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit. Pigment Cell Melanoma Res, 2010; 23(2): 252-262.

19.Wei A#, Wang Y#, Long Y#, Wang Y#, Guo XL, Zhou ZY, Zhu W, Liu JT, Bian XM, Lian S*, Li W*. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. J Invest Dermatol, 2010; 130(3): 716-724.

20.Chen RS, Song YM, Zhou ZY, Tong T, Li Y, Fu M, Guo XL, Dong LJ, He X, Qiao HX, Zhan QM*, Li W*. Disruption of xCT inhibits cancer cell metastasis via the caveolin-1/beta-catenin pathway. Oncogene, 2009; 28(4): 599-609.

21.Chen XW#, Feng YQ#, Hao CJ, Guo XL, He X, Zhou ZY, Guo N, Huang HP, Xiong W, Zheng H, Zuo PL, Zhang X, Li W*, Zhou Z*. DTNBP1, a schizophrenia-susceptible gene affects kinetics of transmitter release. J Cell Biol, 2008; 18(5): 791-801.

22.Li W*, He M, Zhou HL, Bourne JW, Liang P. Mutational data integration in gene-oriented files of Hermansky-Pudlak syndrome database. Hum Mutat, 2006; 27(5): 402-407.

23.Li W#, Zhang Q#, Oiso N#, Novak EK, Gautum R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Boe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra VS, Kingsmore SF, Swank RT. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet, 2003, 35 (1): 84-89.

24.Zhang Q#, Zhao B#, Li W#, Oiso N#, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet, 2003; 33(2): 145-153.

25.Zhang XY, Wen JM, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li YL, Li XY, Xu M, Luo JY, Peng SL, Ma XX, Ma HY, Chai ZY, Zhou Z, Yao J, Zhang X, Liu JY. Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain. Am J Hum Genet.2013,93(5):957-966. (并列第一作者)

26.Hao CJ, Cheng XJ, Guo J, Xia HF, Ma X. Perinatal exposure to diethyl-hexyl-phthalate induces obesity in mice. Front Biosci. 2013; 5:725-733

27.Hao CJ, Cheng XJ, Xia HF, Ma X*. The endocrine disruptor diethylstilbestrol induces adipocyte differentiation and promotes obesity in mice. Toxicol Appl Pharmacol. 2012; 263(1):102-10.

28.Hao CJ, Cheng XJ, Xia HF, Ma X*. The endocrine disruptor 4-nonylphenol promotes adipocyte differentiation and induces obesity in mice. Cell Physiol Biochem. 2012; 30(2):382-94.

29.Hao CJ, Cheng XJ, Xia HF, Ma X*. The endocrine disruptor mono-(2-ethylhexyl) phthalate promotes adipocyte differentiation and induces obesity in mice. Biosci Rep. 2012; 32(6):619-29.

30.Zhan Qi, WenjunMou, Jianxin He, JingangGui. General Characteristics of Human Neonate Immunity. Am J Biomed Sci. 2014,6(4), 265-277.

31.刘雅萍, 黄颖之, 杨威, 张学. 一个III型手足裂畸形家系拷贝数变异的研究. 中华医学遗传学杂志. 2014, 31(3): 276-279. (通讯作者)

32.华芮,杨威,孙念怙,张学. 眼脑肾综合征一家系的OCRL基因致病突变检测. 中华眼科杂志. 2011, 47(9): 801-805. (通讯作者)

33.卢超霞,张慧,杨威. 一个先天性主动脉瓣上狭窄家系的分子遗传学分析. 国际遗传学杂志. 2011, 34(3): 127-129. (通讯作者)

34.齐展,杨威,孟岩,刘雅萍. 颅锁骨发育不良的三个RUNX2基因新突变. 中华医学遗传学. 2014, 31(4): 415-419.


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