研究方向：遺傳相關(guān)疾病的病因、發(fā)病機(jī)制與早期防治

復(fù)旦大學(xué)出生缺陷研究中心副主任，復(fù)旦大學(xué)代謝與分子醫(yī)學(xué)教育部重點(diǎn)實(shí)驗(yàn)室副主任。中華醫(yī)學(xué)會(huì)醫(yī)學(xué)遺傳學(xué)分會(huì)副主任委員，全國(guó)衛(wèi)管協(xié)會(huì)精準(zhǔn)醫(yī)療分會(huì)副會(huì)長(zhǎng)兼醫(yī)學(xué)遺傳專委會(huì)主任委員，全國(guó)腫瘤微創(chuàng)聯(lián)盟精準(zhǔn)醫(yī)學(xué)專委會(huì)執(zhí)行主任委員，上海市醫(yī)學(xué)會(huì)醫(yī)學(xué)遺傳學(xué)分會(huì)前任主任委員，上海市健康科技協(xié)會(huì)基因健康專委會(huì)主任委員，上海市醫(yī)學(xué)會(huì)罕見(jiàn)病分會(huì)候任主任委員。主持國(guó)家及上�？蒲许�(xiàng)目40余項(xiàng)；發(fā)表論文250余篇，其中SCI論文150余篇，被引用3500余次，H因子30。主編《生物學(xué)前沿技術(shù)在醫(yī)學(xué)研究中的應(yīng)用》、《臨床遺傳學(xué)》和《破解疾病的遺傳密碼》，副主編《今日遺傳咨詢》、《分子醫(yī)學(xué)導(dǎo)論》和《常見(jiàn)出生缺陷產(chǎn)前診斷的行業(yè)規(guī)范與指南》。獲中國(guó)和美國(guó)發(fā)明專利7項(xiàng)。

代表性SCI論文（*通訊作者）

1. Ma J, Chen S, Hao L, Sheng W, Chen W,Ma X, Zhang B,Ma D*, Huang G*. Hypermethylation-mediated Down-Regulation of lncRNA TBX5-AS1:2 in Tetralogy of Fallot Inhibits Cell Proliferation by Reducing TBX5 Expression.J Cell Mol Med, 2020 May 5. doi: 10.1111/jcmm.15298.Online ahead of print.

2. Weng ML, Chen WK, Chen XY, Lu H, Sun ZR, Yu Q, Sun PF, Xu YJ, Zhu MM, Jiang N, Zhang J, Zhang JP, Song YL, Ma D*, Zhang XP*, Miao CH*. Fasting inhibits aerobic glycolysis and proliferation in colorectal cancer via the Fdft1-mediated AKT/mTOR/HIF1α pathway suppression. Nature Communications, 2020;11(1): 1869

3. He J, Zhou M, Li X, Gu S, Cao Y, Xing T, Chen W, Chu C, Gu F, Zhou J, Jin Y, Ma J, Ma D*, Zou Q*. SLC34A2 simultaneously promotes papillary thyroid carcinoma growth and invasion through distinct mechanisms.Oncogene, 2020;39(13):2658-2675

4.Zhang M, Jiang N, Cui R, Du S, Ou H, Chen T, Ge R, Ma D*, Zhang J*. Deregulated lncRNA expression profile in the mouse lung adenocarcinomas with KRAS-G12D mutation and P53 knockout. J Cell Mol Med, 2019;23(10):6978-6988

5.Xia W, Hu J, Ma J, Huang J, Wang X, Jiang N, Zhang J, Ma Z, Ma D*. Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss. Clin Genet, 2019;96(4):300-308

6. Xia W, Hu J, Ma J, Huang J, Jing T, Deng L, Zhang J, Jiang N, Ma D*, Ma Z. Mutations in TOP2B cause autosomal-dominant hereditary hearing loss via inhibition of the PI3K-Akt signalling pathway. FEBS Lett, 2019;593(15):2008-2018

7. Du S, Ou H, Cui R, Jiang N, Zhang M, Li X, Ma J, Zhang J, Ma D*. Delivery of Glucosylceramidase Beta Gene Using AAV9 Vector Therapy as a Treatment Strategy in Mouse Models of Gaucher Disease. Hum Gene Ther, 2019;30(2):155-167

8. Xiao D, Wang H, Hao L, Guo X, Ma X, Qian Y, Chen H, Ma J, Zhang J, Sheng W, Shou W, Huang G, Ma D*. The roles of SMYD4 in epigenetic regulation of cardiac development in zebrafish. PLoS Genet, 2018;14(8): e1007578

9. Yang J, Ma J, Xiong Y, Wang Y, Jin K, Xia W, Chen Q, Huang J, Zhang J, Jiang N, Jiang S, Ma D*. Epigenetic regulation of megakaryocytic and erythroid differentiation by PHF2 histone demethylase. J Cell Physiol,2018;233(9):6841-6852

10. Wang HH, Sun PF, Chen WK, Zhong J, Shi QQ, Weng ML, Ma D*, Miao CH*. High Glucose Stimulates Expression of MFHAS1 to Mitigate Inflammation via Akt/HO-1 Pathway in Human Umbilical Vein Endothelial Cells. Inflammation, 2018;41(2):400-408

11.Ma Z, Xia W, Liu F, Ma J, Sun S, Zhang J, Jiang N, Wang X, Hu J, Ma D*. SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. Hum Mol Genet, 2017; 26(16):3234

12. Xia W, Hu J, Liu F, Ma J, Sun S, Zhang J, Jin K, Huang J, Jiang N, Wang X, Li W, Ma Z, Ma D*. New role of LRP5, associated with non-syndromic autosomal recessive hereditary hearing loss. Hum Mutat, 2017; 38(10):1421-1431

13. Qian Y, Xiao D, Guo X, Chen H, Hao L, Ma X, Huang G, Ma D*, Wang H*. Hypomethylation and decreased expression of BRG1 in the myocardium of patients with congenital heart disease. Birth Defects Res, 2017;109(15):1183-1195

14. Shi Q, Xiong B, Zhong J, Wang H, Ma D*, Miao C*. MFHAS1 suppresses TLR4 signaling pathway via induction of PP2A C subunit cytoplasm translocation and inhibition of c-Jun dephosphorylation at Thr239. Mol Immunol, 2017;88:79-88

15. Yang J, Jin K, Xiao J, Ma J, Ma D*. Endogenous tissue factor pathway inhibitor in vascular smooth muscle cells inhibits arterial thrombosis. Front Med, 2017;11(3):403-409

16. Zhong J, Wang H, Chen W, Sun Z, Chen J, Xu Y, Weng M, Shi Q, Ma D*, Miao C*. Ubiquitylation of MFHAS1 by the ubiquitin ligase praja2 promotes M1 macrophage polarization by activating JNK and p38 pathways. Cell Death Dis, 2017;8(5):e2763

17. Qian Y, Xiao D, Guo X, Chen H, Hao L, Ma X, Huang G, Ma D*, Wang H*. Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation. J Transl Med, 2017;15(1):69

18.Ma J, Liu F, Du X, Ma D*, Xiong L*. Changes in lncRNAs and related genes in β-thalassemia minor and β-thalassemia major. Front Med, 2017;11(1):74-86.

19. Ma J, Yang JC, Jian WJ, Wang XM, Xiong LK, Ma D*. A novel loss-of-function heterozygous BRCA2 c.8946delAG mutation found in a Chinese woman with family history of breast cancer. Journal of Cancer Research and Clinical Oncology, 2017;143(4):631-637

20. Xiao JJ, Jin KY, Wang JP, Ma J, Zhang J, Jiang N, Wang HJ, Luo XP, Fei J, Wang ZG, Yang X, Ma D*. Conditional knockout of TFPI-1 in VSMCs of mice accelerates atherosclerosis by enhancing AMOT/YAP pathway. Int J Cardio, 2017;228:605-614

21.Liu LY, Liu F, Du SC, Jiang SY, Wang HJ, Zhang J, Wang W, Ma D*. A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher’s Disease. Chin Med J (Engl), 2016;129(9):1072-1077

22. 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

23. Wang J, Xiao J, Wen D, Wu X, Mao Z, Zhang J, Ma D*. Endothelial cell-anchored tissue factor pathway inhibitor regulates tumor metastasis to the lung in mice. Mol Carcinog, 2016;55(5):882-96

24.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

25. Liu F, Xia W, Hu J, Wang Y, Yang F, Sun S, Zhang J, Jiang N, Wang H, Tian W, Wang X, Ma D*. Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish. PLoS One, 2015;10(9):e0136832

26.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

27. 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

28.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

29. Zhang Y, Wang H, Zhang J, Zheng F, Jiang N, Ma D*. Tissue factor pathway inhibitor-2 is critical in zebrafish cardiogenesis. Biochem Biophys Res Commun, 2015;456(3):827-33

30.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(7):393

31.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. Neuropharma-cology,2014;81:126-33

32. 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

33. 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 inhibits the Wnt/β-catenin signalling pathway by directly binding casein kinase 1ε. Biochem J, 2014;458(1):159-69

34.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

35. Zhang J, Luo X, Ma XJ, Wu Y, Li WC, Wang HJ, Huang GY, Ma D*. MicroRNA deregulation in right ventricular outflow tract myocardium in nonsyndromic tetralogy of fallot. Canadian Journal of Cardiology, 2013;29(12):1695-703.

36.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

37. 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

38.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(2):1691-7

39.Xu C, Wang H, He H, Zheng F, Chen Y, Zhang J, Lin X, Ma D*, Zhang H*. Low expression of TFPI-2 associated with poor survival outcome in patients with breast cancer. BMC Cancer, 2013;13(1):118

40. 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

41.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

42.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

43. 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

44. Luo X, Zhang J, Wang HJ, Du YY, Yang L, Zheng FY, Ma D*. PolyA RT-PCR-based quantification of microRNA by using universal TaqMan probe. Biotechnology Letter, 2012;34(4):627-33

45. Yang L, Wang H, Luo X, Mao P, Tian W, Shi Y, Huang G, Zhang J, Ma D*. Virion protein 16 induces demethylation of DNA integrated within chromatin in a novel mammalian cell model. Acta Biochim Biophys Sin (Shanghai). 2012;44(2):154-61

46. 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

47. 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

48. 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

49.Zha BB, Liang W, Liu J, Cheng J, Hong XW, Liu J, Li YM*, Ma D*. Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1. Chin Med J, 2010;123(5):569-73

50. Zhu LN, Wang JP, Mu JG, Wang HJ, Zhang CQ, Wang J, Liu XG, Yan XM, Dai LS, Ma D*. Expression and Characterization of Kunitz Domain 3 and C Terminal of Human Tissue Factor Pathway Inhibitor-2. Acta Biochimica et Biophysica Sinica, 2009;41(11):948-54

51. Liang W, Cheng J, Liu R, Wang JP, Mu JG, Wang QH, Wang HJ, Ma D*.　Peptide corresponding to the C terminus of tissue factor pathway inhibitor inhibits mesangial cell proliferation and activation in vivo. Peptides, 2009;30(12):2330-6

52. Zhang J, Du YY, Lin YF, Chen YT, Yang L, Wang HJ, Ma D*. The cell growth suppressor, mir-126, targets IRS-1. Biochem Biophys Res Commun, 2008;377(1):136-40

53. Li ZW, Mao ZH, Lin YF, Kong DS, Jiang FL, Liu J, Tang QQ, Ma D*. Dynamic changes of tissue factor pathway inhibitor type 2 associated with IL-1beta and TNF-alpha in the development of murine acute lung injury. Thrombosis Research, 2008;123(2):361-6

54. Guo HS, Kong DS, Lin YF, Zhang HW, Liu J, Zhang N, Song HY, Tang QQ, Ma D*. Tissue factor pathway inhibitor-2 was repressed by CpG hypermethylation through inhibition of KLF6 binding in highly invasive breast cancer cells. BMC Molecular Biology, 2007, 8:110

55. Lin YF, Zhang N, Guo HS, Kong DS, Jiang T, Liang W, Zhao ZH, Liu J, Tang QQ, Ma D*. Recombinant tissue factor pathway inhibitor induces apoptosis in cultured rat mesangial cells via its Kunitz-3 domain and C-terminal through inhibiting PI3-kinase/Akt pathway. Apoptosis, 2007;12(12):2163-73

56. Peng ZC, Cai X, Liang W, Kong DS, Guo HS, Zhang YG, Tang QQ, Song HY, Ma D*. A novel anti-tissue factormonoclonal antibodywith anticoagulant potency derived from synthesized multiple antigenic peptide through blockingFXcombination with TF. Thrombosis Research, 2007;121(1):85-93

57. Zhang CQ, Kong DS, Liu XG, Yan XM, Dai LS, Ma D*. Spectroscopicanalysison the effect of temperature on Kunitz domain 1 of humantissue factor pathway inhibitor-2. Acta Biochimica et Biophysica Sinica, 2007;39(6):406-12

58. Bai H, Ma D*, Zhang YG, Zhang N, Kong DS, Guo HS, Mo W, Tang QQ, Song HY. Molecular Design and Characterization of Recombinant Long Half-life Human Tissue Factor Pathway Inhibitor Mutants. Thrombosis and Haemostasis,2005;93:1055-1060

59. Kong DS, Ma D*, Bai H, Guo HS, Cai X, Mo W, Tang QQ, Song HY. Expression and characterization of the first kunitz domain of human tissue factor pathway inhibitor-2. Biochem Biophys Res Commun, 2004;324: 1179-1185

60. Chand HS, Du X, Ma D, Inzunza HD, Kamei S, Foster D, Brodie S, Kisiel W. The effect of human tissue factor pathway inhibitor-2 on the growth and metastasis of fibrosarcoma tumors in athymic mice. Blood, 2004;103(3):1069-77