姓名：李巍 性别：男 职称：研究员、教授 招生院所：附属儿童医院 招生类型：科学学位(博) 科学学位(硕) 招生专业：遗传学(博) 遗传学(硕) 研究方向名称：出生缺陷遗传学病因与发病机制研究 电子信箱：liwei@ccmu.edu.cn


社会任职
1. 中国生物物理学会理事兼膜生物学分会副会长
2. 中国细胞生物学会常务理事兼细胞器生物学分会副会长
3. 北京细胞生物学会理事长
4. 北京医学会遗传学分会常委
5. 中国医促会出生缺陷精准医学分会副主任委员兼秘书长
6. Bioscience Reports副主编
7. Journal of Genetics and Genomics编委
8. 儿科重大疾病研究教育部重点实验室主任
9. 出生缺陷遗传学研究北京市重点实验室主任
10. 中华医学会医学遗传学分会委员
11. 中国遗传学会理事
12. Frontiers in Cell and Developmental Biology (Membrane Traffic领域副主编)
个人简历
1. 198209-198507:江西赣南医专医疗专业 学生
2. 198508-198808:江西赣南医学院生化教研室 教师
3. 198809-199106:同济医科大学生化专业 硕士生
4. 199107-199308:广州市第一人民医院检验科 医师
5. 199409-199707:中山医科大学医学遗传学专业 博士生
6. 199707-199812:深圳市罗湖医院遗传与生殖中心 主治医师
7. 199901-200411:美国Roswell Park肿瘤研究所分子细胞生物学系 博士后
8. 200301-200409:美国纽约州立大学布法罗分校生物信息学专业 硕士生
9. 200411-201504:中国科学院遗传与发育生物学研究所 研究员
10. 201505-:首都医科大学附属北京儿童医院/北京市儿科研究所出生缺陷遗传学研究室 教授、研究员
重要学术论文
1. Ma J#, Wang R#, Lam SM, Zhang C, Shui G*, Li W*.Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerosis lipids. Biosci Rep. 2019,39(2):BSR**.SCI
2. Zhang YZ, Bai DY, Qi Z, Zhao SZ, Yang XM, Li W, Wei AH. Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism. Chinese Med J (Engl) . 2019,132(16):2011-2012.SCI
3. Guo J#, Li Z#, Hao C, Guo R, Hu X, Qian S, Zeng J, Gao H*, Li W*.A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy, left ventricular non-compaction cardiomyopathy, and sudden cardiac arrest. Mol Genet Genom Med. 2019,7(8):e828.SCI
4. Liu J#, Hu XY#, Zhao ZP, Guo RL, Guo J, Li W, Hao CJ, Xu BP.Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. BMC Med Genet. 2019,20(1):182.SCI
5. Zhang YL, Zhang YZ, Liu T, Bai DY, Yang XM, Li W*, Wei AH*.Identification of two Chinese OCA6 patients and mutation updates of the SLC24A5 gene. J Dermatol. 2019,46(11):1027-1030.SCI
6. Hu X#, Liu J#, Guo R, Guo J, Zhao Z, Li W, Xu B, Hao C.A novel 14q13.1-21.1 deletion identified by CNV-seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency. Mol Cytogenet. 2019,12:51.SCI
7. Fang BL#, Guo J#, Hao CJ, Guo RL, Qian SY, Li W*, Jia XL*.Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient. Clin Chim Acta. 2019,501:131-135.SCI
8. Zhang Z, Gong JJ, Sviderskaya EV, Wei AH*, Li W*.Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production. J Cell Sci. 2019,132(14):jcs232009.SCI
9. Wei AH# *, Yuan YF#, Qi Z, Liu T, Bai DY, Zhang YZ, Yu JY, Yang L, Yang XM, Li W*.Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. Pigment Cell Melanoma Res. 2019,32(3):373-380.SCI
10. Chen Y, Yuan Y, Li W*.Sorting machineries: how do platelet dense granules differ from α-granules. Biosci Rep. 2018,38(5):BSR**.SCI
11. Jia J, An Z, Ming Y, Guo Y, Li W, Li X, Liang Y, Guo D, Tai J, Chen G, Jin Y, Liu Z, Ni X, Shi T.PedAM: a database for Pediatric Disease Annotation and Medicine. Nucleic Acids Res. 2018,46(D1):D977-D983.SCI
12. Jia J, An Z, Ming Y, Guo Y, Li W, Liang Y, Guo D, Li X, Tai J, Chen G, Jin Y, Liu Z, Ni X, Shi T.eRAM: encyclopedia of rare disease annotations for precision medicine. Nucleic Acids Res. 2018,46(D1):D937-D943.SCI
13. Kang H, Zhang M, Ouyang M, Guo R, Yu Q, Peng Q, Zhang N, Zhang Y, Duan Y, Tang X, Virendra M, Fang F, Li W, Huang H, Peng Y.Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion tensor MR imaging. Eur J Radiol. 2018,102:22-29.SCI
14. Truman-Rosentsvit M, Berenbaum D, Spektor L, Cohen LA, Belizowsky-Moshe S, Lifshitz L, Ma J, Li W, Kesselman E, Abutbul-Ionita I, Danino D, Gutierrez L, Li H, Li K, Lou H, Regoni M, Poli M, Glaser F, Rouault TA, Meyron-Holtz EG.Ferritin is secreted via two distinct non-classical vesicular pathways. Blood. 2018,131(3):342-352.SCI
15. Qi Z, Shen Y, Fu Q, Li W, Yang W, Xu WS, Chu P, Zhang YX, Wang H.Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedle syndrome. Sci China Life Sci. 2017,60(7): 739-745.SCI
16. Bai DY, Shi W, Qi Z, Li W, Wei AH, Cui YH, Li C, Li L.Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations. Sci China Life Sci. 2017,60(7):707-713.SCI
17. He QP, Gao SW, Lv JH, Li W, Liu F.BLOS2 maintains hematopoietic stem cells in the fetal liver via repressig Notch signaling. Exp Hematol. 2017,51:1-6.e2.SCI
18. 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.SCI
19. Zhou W#, He Q#, 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.SCI
20. Klionsky DJ, et al. .Guidelines for the use and interpretation of assays for monitoring autophagy . Autophagy. 2016,12(1):1-222.SCI
21. Wei ZB#, Yuan YF#, 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.SCI
22. Wei AH* #, Yuan YF#, Bai DY#, 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.SCI
23. 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.SCI
24. Yuan Y,Wang H,Wei Z, Li W*.Impaired autophagy in hilar mossy cells of the dentate gyrus and its implication in schizophrenia. J Genet Genomics. 2015,42(1):1-8.SCI
25. Zhen YL, Li W* .Impairment of autophagosome-lysosome fusion in the buff mutant mice with the VPS33A (D251E) mutation. Autophagy. 2015,11(9):1608-1622.SCI
26. 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.SCI
27. Wei AH*, Zang DJ, Zhang Z, Yang XM, Li W*.Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. J Genet Genomics. 2015,42(6):279-286.SCI
28. Wang H, Yuan Y, Zhang Z, Yan H, Feng Y, 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.SCI
29. 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):e**.SCI
30. Zhang A#,He X#, Zhang L, Yang L, Woodman P, Li W*.Biogenesis of lysosome-related organelles complex-1 subunit 1 (BLOS1) interats 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.SCI
31. Li K, Yang L, Zhang C, Niu Y, Li W, Liu JJ.HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes . J Cell Sci. 2014,127(21):4574-4588.SCI
32. Montoliu L, Gronskov K, Wei A, Martinez-Garcia M, Fernandez A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed Z, Rosenberg T, Li W.Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res. 2014,27(1):11-18.SCI
33. Wei A* #, 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 a candidate gene for non-syndromic albinism. J Invest Dermatol. 2013,133(7):1834-1840.SCI
34. Wei A, He X, Li W*.Hypopigmentation in Hermansky-Pudlak syndrome. J Dermatol. 2013,40(5):319-324.SCI
35. Wei A*, Li W*.Hermansky Pudlak syndrome: Pigmentary and non pigmentary defects and their pathogenesis. Pigment Cell Melanoma Res. 2013,26(2):176-192.SCI
36. He X#, Li HT#, Zhou ZY, Zhao ZS, Li W*.Production of brown/yellow coat color patches in the SLC7A11 transgenic sheep via testicular injection of transgene. J Genet Genomics. 2012,39(6):281-285.SCI
37. Li Y, Tan Z, Li Z, Sun Z, Duan S, Li W*.Impaired long-term potentiation and long term memory deficits in xCT deficient sut mice. Biosci Rep. 2012,32(3) :315-321.SCI
38. 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.SCI
39. 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.SCI
40. Meng R, Wang Y, Yao Y, Zhang Z, Harper DC, Heijnen HFG, Sitaram A, Li W, Raposo G, Weiss MJ, Poncz M, Marks M.SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and differentially defective in Hermansky-Pudlak syndrome models. Blood. 2012,120(2):404-414.SCI
41. Cheng J, Zhu Y, He S, Lu Y, Chen J, Han B, Petrillo M, Wrzeszczynski KO, Yang S, Dai P, Zhai S, Han D, Zhang MQ, Li W, Liu X, Li H, Chen ZY, Yuan H.Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. Am J Hum Genet. 2011,89(1):56-66.SCI
42. Wei A, Yang X, Lian S, Li W*.Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. J Dermatol Sci. 2011,62(2):124-127.SCI
43. 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.SCI
44. 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 BLOC1 subunit, interacts with SNX1 and modulates root growth in Arabidopsis. J Cell Sci. 2010,123(21):3727-3733.SCI
45. 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.SCI
46. 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.SCI
47. Feng YQ, Zhou ZY, He X, Wang H,Guo XL, Hao CJ, Guo Y, Zhen XC, Li W*.Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia. Schizophr Res. 2008,106(2-3):218-228.SCI
48. 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.SCI
49. Chintala S, Tan J, Gautum R, Rusiniak M, Guo XL, Li W, Gahl WA, Huizing M, Spritz RA, Hutton S, Novak EK, Swank RT.The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet dense granules. Blood. 2007,109(4):1533-1540.SCI
50. 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.SCI
51. Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park Y-M, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT.Slc7a11 controls the production of pheomelanin pigment and the proliferation of cultured cells. Proc Natl Acad Sci USA. 2005,102(31):10964-10969.SCI
52. Li W, Rusiniak M, Chintala S, Gautum R,Novak EK, Swank RT.Murine Hermansky-Pudlak syndrome: Genes which control lysosome-related organelles. BioEssays. 2004,26(6):616-628.SCI
53. 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.SCI
54. 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.SCI
55. Zhang Q#, Li W#, Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, Suzuki T, Swank RT.The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. Hum Mol Genet. 2002,11(6):697-706 .SCI
56. Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA.Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet. 2002,30(3):321-324.SCI
57. Suzuki T#, Li W#,Zhang Q, Novak EK, Sviderskaya EV, Wilson A, Bennett DC, Roe BA, Swank RT, Spritz RA.The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Genomics. 2001,78(1/2):30-37.SCI
58. Detter JC, Zhang Q, Mules EH, Novak EK, Mishna VS, Li W, McMurtrie EB, Tchernev VT, Wallace MR, Seabra MC, Swank RT, Kingsmore SF.Rab geranylgeranyl transferase a mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis. Proc Natl Acad Sci USA. 2000,97(8):4144-4149.SCI
主编或副主编的著作/译著
1. 《儿童皮肤病彩色图谱》,副主编,人民卫生出版社,201706
2. 《漫画遗传》,主编,人民卫生出版社,201612
3. 《医学遗传学（第3版）》,副主编,人民卫生出版社,201412
4. 《生物信息学导论》,主编,郑州大学出版社,200410
5. 《遗传咨询》,主编,郑州大学出版社,200304
6. 《产前遗传病诊断》,副主编,广东科技出版社,200210
重要奖项
1. 白化病的基因诊断及发病机制研究 北京市科学技术奖 三等奖 201812
2. 国务院政府特殊津贴 201103
3. 国家人社部百千万人才工程国家级人选 200912
4. 国家科学基金获得者 200511