一、主要学术成就       围绕遗传相关疾病展开系列研究，先后发现50多种疾病致病基因与易感基因，部分阐明了它们的致病机制，建立了检测方法，进行了2种疾病的基因治疗和2种疾病的蛋白治疗研发。发表论文300余篇，其中SCI论文190余篇，被引用5000余次。 二、科技奖项 1. 2015年2月：中国妇幼健康科技奖一等奖—妇幼系统检验行业公益性技术推广及妊娠相关疾病分子诊断研究 2. 2014年10月：第27届华东地区科技出版社优秀科技图书一等奖—临床遗传学 3. 2014年5月：上海图书奖一等奖—临床遗传学 4. 2008年5月：上海市优秀图书一等奖—生物学前沿技术在医学研究中的应用 5. 2006年8月：上海市徐汇区第四届徐光启科技银奖—重组长效TFPI治疗感染性DIC的临床前研究 6. 2004年教育部提名国家科技进步二等奖—基因重组链激酶(rSK)在急性脑卒中外科治疗中的应用研究 7. 2003年1月：上海市科技进步三等奖—重组链激酶治疗急性脑梗塞的实验和临床应用研究 8. 2002年10月：上海市优秀发明选拔赛一等奖—重组人组织因子途径抑制物活性肽及其制备 三、发明创造 1. 翁炳焕，黄荷凤，马端。中国发明专利：一种全基因组高通量克隆载体的构建。专利号：ZL 201910109486.5 2. 马端，张进，王慧君，杨璐。中国发明专利：一种检测DNA主动去甲基化的方法。专利号：ZL201110077002.7 3. Duan Ma, Jingui Mu, Jiping Wang, Huijun Wang, Wang Liang. 美国发明专利：Genetically Modified TFPI And Method Of Trteating Coagulation Using The Same.专利号：8912143 4. Duan Ma, Jingui Mu, Jiping Wang, Huijun Wang, Wang Liang. 美国发明专利：Genetically Modified TFPI And Method Of Making The Same. 专利号：US 20120065135A1   5. 马端，木金贵，王际平，王慧君，梁旺。中国发明专利：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 6. 马端，程训佳，刘静，木金贵，梁旺，王际平。中国发明专利：一种人源抗组织因子Fab及其制备方法。专利号：ZL200810034154.7 7. 马端，宋后燕。中国发明专利：重组人组织因子途径抑制物活性肽及其制备。专利号：ZL01126949.9 8. 马端，宋后燕，白浩，张农。中国发明专利：长效重组组织因子途径抑制物及其制备方法。专利号：ZL031512038 四、著作 1. 吴志英主编，马端，曹轩，邬玲仟，李宏福，副主编。医学遗传学。科学出版社，2023 2. 黄雷，马端，主编。医学遗传学基础与进展。科学出版社，2023 3. 汤其群，马端，主编。代谢分子医学导论。复旦大学出版社，2020 4. 贺林主编，马端等副主编。今日遗传咨询。人民卫生出版社。2019 5. 马端主编。破解疾病的遗传密码。上海科学技术出版社。2018 6. 起草人：曾溢涛，曾凡一，马端等。遗传病相关个体化医学检测技术指南（试行）。国家卫计委个体化医学检测技术专家委员会 2015 7. 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 8. 贺林，马端，段涛，主编。临床遗传学。上海科技出版社。2013 9. 马端主编。生物学前沿技术在医学研究中的应用。复旦大学出版社。2007 10. 钱旻，马端主译。免疫生物学/Immunobiology。北京：人民卫生出版社，2008 五、近五年重要论文（*通讯作者，IF为影响因子） 1. Tang H, Zhu W, Cao L, Zhang J, Li J, Ma D*, Guo C*. miR-210-3p protects against osteoarthritis through inhibiting subchondral angiogenesis by targeting the expression of TGFBR1 and ID4. Front Immunol. 2022 Sep 29;13:982278  IF：8.786 2. Wu S, Cui Y, Zhao H, Xiao X, Gong L, Xu H, Zhou Q*, Ma D*, Li X*. Trophoblast Exosomal UCA1 Induces Endothelial Injury through the PFN1-RhoA/ROCK Pathway in Preeclampsia: A Human-Specific Adaptive Pathogenic Mechanism. Oxidative Medicine and Cellular Longevity.  2022:2198923 IF：7.310 3. Hao L, Ma J, Wu F, Ma X, Qian M, Sheng W, Yan T, Tang N, Jiang X, Zhang B, Xiao D, Qian Y, Zhang J, Jiang N, Zhou W, Chen W, Ma D*, Huang G*. WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation. Clin Transl Med. 2022;12(7):e941 IF：8.554 4. Cui R, Chen D, Li N, Cai M, Wan T, Zhang X, Zhang M, Du S, Ou H, Jiao J, Jiang N, Zhao S, Song H, Song X, Ma D*, Zhang J*, Li S*. PARD3 gene variation as candidate cause of nonsyndromic cleft palate only. J Cell Mol Med. 2022 Aug;26(15):4292-4304  IF：5.295 5. Guo JN, Guan M, Jiang N, Li N, Li YJ, Zhang J, Ma D*. Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation. Front Genet, 2022;13:892457 IF：4.772 6. Chen X, Xu Y, Li C, Lu X, Fu Y, Huang Q, Ma D*, Ma J*, Zhang T*. Key Genes Identified in Nonsyndromic Microtia by the Analysis of Transcriptomics and Proteomics. ACS Omega, 2022;7(20):16917-16927  IF：4.132 7. Ye M, Gao R, Chen S, Wei M, Wang J, Zhang B, Wu S, Xu Y, Wu P, Chen X, Ma J, Ma D*, Dong K*. Downregulation of MEG3 and upregulation of EZH2 cooperatively promote neuroblastoma progression. J Cell Mol Med. 2022;26(8):2377-2391. IF：5.295 8. Ma J, Zhang Y, Yan Z, Wu P, Li C, Yang R, Lu X, Chen X, He A, Fu Y, Ma D*, Tian W*, Zhang T*. Single-cell transcriptomics reveals pathogenic dysregulation of previously unrecognised chondral stem/progenitor cells in children with microtia. Clin Transl Med. 2022 Feb;12(2):e702.  IF：8.554 9. Xu Y, Bao X, Chen X, Wu P, Chen S, Zhang B, Ma J*, Xu G*, Ma D*. STARD3NL inhibits the osteogenic differentiation by inactivating the Wnt/β-catenin pathway via binding to Annexin A2 in osteoporosis. J Cell Mol Med. 2022;26(5):1643-1655  IF:5.295 10. Gao R, Ye M, Liu B, Wei M, Ma D*, Dong K*.  m6A Modification: A Double-Edged Sword in Tumor Development. Front Oncol. 2021;11:679367.  IF: 5.738 11. Chen S, Jia Z, Cai M, Ye M, Wu D, Wan T, Zhang B, Wu P, Xu Y, Guo Y, Tian C, Ma D*, Ma J*. SP1-Mediated Upregulation of Long Noncoding RNA ZFAS1 Involved in Non-syndromic Cleft Lip and Palate via Inactivating WNT/β-Catenin Signaling Pathway. Front Cell Dev Biol. 2021 Jun 29;9:662780  IF: 6.081 12. Xu W, Chen Z, Liu G, Dai Y, Xu X, Ma D*, Liu L*. Identification of a Potential PPAR-Related Multigene Signature Predicting Prognosis of Patients with Hepatocellular Carcinoma. PPAR Res. 2021;2021:6642939  IF: 4.385 13. Liu G, Liu B, Liu X, Xie L, He J, Zhang J, Dong R, Ma D*, Dong K*, Ye M*. ARID1B/SUB1-activated lncRNA HOXA-AS2 drives the malignant behaviour of hepatoblastoma through regulation of HOXA3. J Cell Mol Med. 2021;25(7):3524-3536  IF: 5.295 14. Zhang M, Du S, Ou H, Cui R, Jiang N, Lin Y, Ge R, Ma D*, Zhang J*. Ablation of Zfhx4 results in early postnatal lethality by disrupting the respiratory center in mice. J Mol Cell Biol. 2021 Jul 6;13(3):210-224  IF: 8.185 15. He W, Zhang J, Liu B, Liu X, Liu G, Xie L, He J, Wei M, Li K, Ma J, Dong R, Ma D*, Dong K*, Ye M*. S119N Mutation of the E3 Ubiquitin Ligase SPOP Suppresses SLC7A1 Degradation to Regulate Hepatoblastoma Progression. Mol Ther Oncolytics. 2020;19:149-162 IF: 6.311 16. Lu H, Zhang H, Weng ML, Zhang J, Jiang N, Cata JP, Ma D*, Chen WK*, Miao CH*. Morphine promotes tumorigenesis and cetuximab resistance via EGFR signaling activation in human colorectal cancer. J Cell Physiol. 2021;236(6):4445-4454  IF: 6.513 17. Ye M, Lu H, Tang W, Jing T, Chen S, Wei M, Zhang J, Wang J, Ma J, Ma D*, Dong K. Downregulation of MEG3 promotes neuroblastoma development through FOXO1-mediated autophagy and mTOR-mediated epithelial-mesenchymal transition. Int J Biol Sci. 2020;16(15):3050-3061 IF: 10.750 18. Cui R, Jiang N, Zhang M, Du S, Ou H, Ge R, Ma D*, Zhang J*. AMOTL2 inhibits JUN Thr239 dephosphorylation by binding PPP2R2A to suppress the proliferation in non-small cell lung cancer cells. Biochim Biophys Acta Mol Cell Res. 2020;1868(1):118858  IF: 5,011 19. Ma J, Chen S, Hao L, Sheng W, Chen W, Ma X, Zhang B, Ma D*, Huang G*. Long non-coding RNA SAP30-2:1 is downregulated in congenital heart disease and regulates cell proliferation by targeting HAND2. Front Med. 2021;15(1):91-100  IF: 9.927 20. Zhao H, Gong L, Wu S, Jing T, Xiao X, Cui Y, Xu H, Lu H, Tang Y, Zhang J, Zhou Q, Ma D*, Li X*. The Inhibition of Protein Kinase C β Contributes to the Pathogenesis of Preeclampsia by Activating Autophagy. EBioMedicine. 2020;56:102813   IF：11.205 21. 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;24(11):6472-6484   IF: 5.295 22. 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  IF: 17.694 23. 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  IF:8.756 24. Xu WF , Liu ZH, Ren H, Peng XQ, Wu AS, Ma D*, Liu G*, Liu Lei*. Twenty Metabolic Genes Based Signature Predicts Survival of Glioma Patients. J Cancer. 2020;11(2):441-449  IF: 4.478 25. Huang J, Bao X, Xia W, Zhu L, Zhang J, Ma J, Jiang N, Yang J, Chen Q, Jing T, Liu J, Ma D*, Xu G. Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets. Bone Joint Res. 2019;8(8):405-413  IF: 4.410 26. Ye M, Ma J, Liu B, Liu X, Ma D*, Dong K. Linc01105 acts as an oncogene in the development of neuroblastoma. Oncol Rep. 2019;42(4):1527-1538 IF：4.136 27. 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  IF: 5.295 28. 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. IF：4.296 29. 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  IF：4.793 30. 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.  IF: 6.020 31. 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   IF:6.513 32. 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  IF: 4.657 33. 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  IF: 5.121 34. 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  IF: 4.7 35. 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. IF: 9.927 36. 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.  IF: 9.685   37. 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.  IF: 8.840 38. Yang F, Chen C, Zhou Q, Gong Y, Li R, Li C, Klämpfl F, Freund S, Wu X, Sun Y, Li X, Schmidt M, Ma D*, Yu Y*. Laser beam melting 3D printing of Ti6Al4V based porous structured dental implants: fabrication, biocompatibility analysis and photoelastic study. Sci Rep. 2017;7:45360.  IF: 4.996 39. 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.  IF: 9.927 40. 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. J Cancer Res Clin Oncol. 2017;143(4):631-637  IF: 4.322 41. 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(2):383-394  IF: 5.121