马端教授

   

   

研究方向:出生缺陷和血管性疾病的病因、发病机制、早期诊断与干预
duanma@fudan.edu.cn

上海市领军人才,上海市优秀学术带头人,上海市曙光学者
复旦大学分子医学教育部重点实验室 副主任
复旦大学出生缺陷研究中心 副主任
复旦大学儿童发育与疾病转化医学研究中心 副主任
东亚人类遗传学会 秘书长
中华医学会医学遗传学分会 常务委员
中国遗传学会理事,遗传咨询分会 顾问
中华预防医学会出生缺陷预防与控制专业委员会 委员
中国医师协会医学遗传分会 委员
上海市遗传学会理事
上海市医学会遗传学分会 主任委员
上海市医学会罕见病分会 副主任委员
杂志副主编:中国产前诊断杂志(电子版)
杂志常委:生殖与避孕,微循环学杂志
杂志编委:(1)BioScience Trends;(2)中华医学遗传学杂志;(3)医学分子生物学杂志;(4)中国临床神经科学;(5)转化医学杂志。    

 

授权发明专利
1.Duan Ma, Jingui Mu, Jiping Wang, Huijun Wang, Wang Liang. Genetically Modified TFPI And Method Of Treating Coagulation using the same. USA Patent No.: 8912143
2.Duan Ma, Jingui Mu, Jiping Wang, Huijun Wang, Wang Liang. Genetically Modified TFPI And Method Of Making The Same. USA Patent No.: US 20120065135  
3.马端,张进,王慧君,杨璐。一种检测DNA主动去甲基化的方法。专利号:ZX201110077002.7
4.马端,木金贵,王际平,王慧君,梁旺。一种酵母高效表达长效重组人组织因子途径抑制物的方法。专利号:ZL200910046024x
5.马端,程训佳,刘静,木金贵,梁旺,王际平。一种人源抗组织因子Fab及其制备方法。专利号:ZL200810034154.7    
6.马端,宋后燕。发明专利“重组人组织因子途径抑制物活性肽及其制备”。专利号:ZL011 26949.9
7.马端,宋后燕,白浩,张农。长效重组组织因子途径抑制物及其制备方法。专利号:ZL03151203.8

 

著作
1.贺林主编,邬玲仟、贺光、马端副主编。常见出生缺陷产前诊断的行业规范与指南。人民卫生出版社。2013
2.贺林,马端,段涛主编。临床遗传学。上海科技出版社。2013年5月。
3.马端主编。生物学前沿技术在医学研究中的应用。上海:复旦大学出版社,2007.9
4.钱旻,马端主译。免疫生物学/Immunobiology。北京:人民卫生出版社,2008.4
5.宋后燕主编,马端,申宗侯副主编。分子医学导论。马端:第九章 动脉粥样硬化发生和发展的分子机制。上海:复旦大学出版社,2006.2
 
近五年主持的科研项目
1.国家自然科学基金(2016-2019):WDR62突变导致心脏发育异常的分子机制。81570286
2.上海市科研计划项目(2014-2016):诱导型戈谢氏病小鼠模型的制备及在基因治疗中的应用。14140902600
3.国家自然科学基金(2014-2017):神经型戈谢氏病发病机制及诱导性干细胞治疗策略探讨。81371269
4.973(2011-2015)。感音神经性聋发病机制及干预的基础研究。课题二 我国常见耳聋相关基因致聋机制的研究。2011CB504502
5.上海市优秀学科带头人计划(2012-2014):条件敲除TFPI-1基因对血管内皮细胞功能的影响及其机制研究。12XD1400600
6.卫生部行业基金(2012-2014):耳鼻重大疾病的早期发现、规范诊治和防控体系研究及推广应用。201202005
7.上海市“科技创新行动计划”重大科技项目(2011-2014)。10种罕见遗传性疾病的防治研究,11dz1950300
8.国家重大基础研究计划(2009-2013):环境和遗传因素导致男性不育与出生缺陷的分子机制。
9.国家十一五科技支撑项目(2008-2011):重大遗传病产前筛查、诊断综合技术体系研究。
 

近五年代表性论文
(1)Hu J, Liu F, Xia W, Hao L, Lan J, Zhu Z, Ye J, Ma D*, Ma Z*. Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss. J Transl Med. 2016;14(1):29
(2)Shen X, Liu F, Wang Y, Wang H, Ma J, Xia W, Zhang J, Jiang N, Sun S, Wang X, Ma D*. Down-regulation of msrb3 and destruction of normal auditory system development through hair cell apoptosis in zebrafish. Int J Dev Biol. 2015;59(4-6):195-203
(3) Chang S, Shan X, Li X, Fan W, Zhang SQ, Zhang J, Jiang N, Ma D*, Mao Z*. Toxoplasma gondii Rhoptry Protein ROP16 Mediates Partially SH-SY5Y Cells Apoptosis and Cell Cycle Arrest by Directing Ser15/37 Phosphorylation of p53. Int J Biol Sci. 2015;11(10):1215-25
(4)Liang F, Diao L, Jiang N, Zhang J, Wang HJ, Zhou WH, Huang GY, Ma D*. Chronic exposure to ethanol in male mice may be associated with hearing loss in offspring. Asian J Androl. 2015;17(6):985-90
(5)Deng S, Zhang Y, Xu C, Ma D*. MicroRNA-125b-2 overexpression represses ectodermal differentiation of mouse embryonic stem cells. Int J Mol Med. 2015;36(2):355-62
(6)Wang JP, Xiao JJ, Wen DP, Wu X, Mao ZH, Zhang J, Ma D*. Endothelial Cell-Anchored Tissue Factor Pathway Inhibitor Regulates Tumor Metastasis to the Lung in Mice. Molecular Carcinogenesis. 2015 May 6. doi: 10.1002/mc.22329. [Epub ahead of print]
(7)Liu F, Yang F, Wen D, Xia W, Hao L, Hu J, Zong J, Shen X, Ma J, Jiang N, Sun S, Zhang J, Wang H, Wang X, Ma Z, Ma D*. Grhl1 deficiency affects inner ear development in zebrafish. Int J Dev Biol. 2015;59(10-12):417-23
(8) Wang Y, Wen Z, Shen J, Cheng W, Li J, Qin X, Ma D*, Shi Y*. Comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection. J Hum Genet. 2014;59:393-6
(9)Chen F, Zhao X, Peng J, Bo L, Fan B, Ma D*. Integrated microRNA-mRNA analysis of coronary artery disease. Mol Biol Rep. 2014;41(8):5505-11
(10)Liang F, Diao L, Liu J, Jiang N, Zhang J, Wang H, Zhou W, Huang G, Ma D*. Paternal ethanol exposure and behavioral abnormities in offspring: Associated alterations in imprinted gene methylation. Neuropharmacology. 2014;81:126-33
(11)Sheng W, Qian Y, Zhang P, Wu Y, Wang H, Ma X, Chen L, Ma D*, Huang G*. Association of Promoter Methylation Statuses of Congenital Heart Defect Candidate genes with Tetralogy of Fallot. J Transl Med. 2014;12(1):31
(12)Xu F, Wang YL, Chang JJ, Du SC, Diao L, Jiang N, Wang H, Ma D*, Zhang J*. Mammalian sterile 20-like kinase 1/2 inhibit Wnt/β-catenin signaling pathway by directly binding Casein kinase 1 epsilon. Biochem J. 2014;458(1):159-69  
(13)Sheng W, Qian Y, Wang H, Ma X, Zhang P, Diao L, An Q, Chen L, Ma D*, Huang G*. DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot. BMC Med Genomics. 2013;6(1):46
(14)Zhang J, Luo X, Ma XJ, Wu Y, Li WC, Wang HJ, Huang GY*, Ma D*. miRNA Deregulation in Right Ventricular Outflow Tract Myocardium of Non-syndromic Tetralogy of Fallot. Canadian Journal of Cardiology. 2013;29(12):1695-703
(15)Zhang YL, Wang LN, Zhou WH, Zhang J, Wang HJ, Jiang Q, Deng SS, Li WH, Wang L, Li HW, Mao ZH, Ma D*. Tissue factor pathway inhibitor-2: A novel gene involved in zebrafish central nervous system development. Developemntal Biology. 2013;381(1):38-49
(16)Wang T, Qian YY, Hua KQ, Ma D*. The Relationship Between Insulin Resistance and CpG Island Methylation of LMNA Gene in Polycystic Ovary Syndrome. Cell Biochemistry and Biophysics. 2013;67(3):1041-7  
(17)Pan J, Ma D, Sun F, Liang W, Liu R, Shen W, Wang H, Ji Y, Hu R, Liu R, Luo X, Shi H. Over-expression of TFPI-2 promotes atherosclerotic plaque stability by inhibiting MMPs in apoE-/- mice. Int J Cardiol.  2013;168:1691-7  
(18)Yao G, Li S, Chen D, Wang H, Zhang J, Feng Z, Guo L, Yang Z, Yang S, Sun C, Zhang X, Ma D*. Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol. 2013;77(4):544-9
(19)Li J, Cao Y, Ma XJ, Wang HJ, Zhang J, Luo X, Chen W, Wu Y, Meng Y, Zhang J, Yuan Y, Ma D*, Huang GY*. Roles of miR-1-1 and miR-181c in ventricular septal defects. Int J Cardiol. 2013;168(2):1441-6
(20)Sheng W, Wang HJ, Zhang P, Qian YY, Wu Y, Ma XJ, Zheng FY, Chen L, Huang GY*, Ma D*. LINE-1Methylation Status and Its Association with Tetralogy of Fallot in Chinese Infants. BMC Medical Genomic, 2012, 5:20
(21)Chen YT, Zhang J, Wang HJ, Xu C, Du YY, Luo X, Zheng FY, Zhao JY, Zhang HW, Ma D*. miRNA-135a promotes migration and invasion of breast cancer by targeting HOXA10. BMC Cancer. 2012;12(1):111
(22) Xu C, Deng F, Mao Z, Zhang J, Wang H, Wang J, Mu J, Deng S, Ma D*. The interaction of the second Kunitz-type domain (KD2) of TFPI-2 with a novel interaction partner, prosaposin, mediates the inhibition of the invasion and migration of human fibrosarcoma cells. Biochemical Journal,2012;441(2):665-74.
(23) Zhao BL, Luo XP*, Shi HM, Ma D*. Tissue factor pathway inhibitor-2 is downregulated by ox-LDL and inhibits ox-LDL induced vascular smooth muscle cells proliferation and migration. Throm Res. 2011;128(2):179-85
(24)Du YY, Zhang J, Wang HJ, Yan XL, Yang YJ, Yang L, Luo X, Chen YT, Duan T, Ma D*. Hypomethylated DSCR4 is a Placenta Derived Epigenetic Marker for Trisomy 21. Prenatal Diagnosis. 2011;31(2):207-14 

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