Zejuan Li, M.D. Ph.D.

Assistant Professor

Research Description

My research interest focuses on translating knowledge from basic research to clinical diagnosis and particularly, in developing and testing cutting edge technologies to incorporate advanced sequencing platforms,  materials and techniques to improve the range of genetic and genomic services that can be offered to patients. One area of interest is inherited cancer syndromes. Generally, about 10% of all cancers result directly from gene mutations inherited from a parent.  My work on inherited cancer syndromes is to develop and apply cutting-edge technologies, such as next-generation sequencing (NGS) and high resolution microarrays for clinical diagnostics to improve efficiency and diagnostic rate of clinical diagnosis and provide evidence for clinical prognosis and management. In the meanwhile, genotype and phenotype information is collected during the test to further analyze the genotype phenotype correlation in specific cancer syndrome.

Whole exome sequencing is another fast and powerful technique that allows investigating the protein coding regions of the genome in an efficient way. My work is also focusing on application and improvement of clinical exome sequencing as molecular genetics test for patients with complex phenotypes for which single gene tests or multi-gene panels are not clinically available. I am also interested in developing and implementing whole genome sequencing for clinical diagnostic purpose.

In addition, I will continue translational research on protein-coding and non-coding genes regarding genetic and epigenetic changes in cancers and orphan genetic disease. The test of NGS panels and exome sequencing can lead to identification of novel gene mutations. I will take the advantage of my solid training background in cancer research to further investigate the effect and contribution of those novel mutations on inherited cancers and orphan genetic disease. My long-term goal is to understand the pathological mechanisms, to identify new genetic and epigenetic markers for diagnosis and treatment, and to develop more effective therapeutic strategies to treat patients.


Selected Publications

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L, Johnson AK, Alkorta-Aranburu G, Nelakuditi V, Arndt K, Churpek JE, Godley LA, Townsley D, Young NS, Fitzpatrick C, Del Gaudio D, Das S, Li Z
(2017 Feb) Leukemia. 2017 Feb 7. doi: 10.1038/leu.2017.28. 28104920

FTO Plays an Oncogenic Role in Acute Myeloid Leukemia as a N6-Methyladenosine RNA Demethylase.
Li Z, Weng H, Su R, Weng X, Zuo Z, Li C, Huang H, Nachtergaele S, Dong L, Hu C, Qin X, Tang L, Wang Y, Hong GM, Huang H, Wang X, Chen P, Gurbuxani S, Arnovitz S, Li Y, Li S, Strong J, Neilly MB, Larson RA, Jiang X, Zhang P, Jin J, He C, Chen J
(2017 Jan) Cancer Cell. 2017 Jan 9;31(1):127-141. doi: 10.1016/j.ccell.2016.11.017. Epub 2016 Dec 22. 28017614 (Full Text)

Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.
Alkorta-Aranburu G, Sukhanova M, Carmody D, Hoffman T, Wysinger L, Keller-Ramey J, Li Z, Johnson AK, Kobiernicki F, Botes S, Fitzpatrick C, Das S, Del Gaudio D
(2016 May) J Pediatr Endocrinol Metab. 2016 May 1;29(5):523-31. doi: 10.1515/jpem-2015-0341. 26894574

miR-22 has a potent anti-tumour role with therapeutic potential in acute myeloid leukaemia.
Jiang X, Hu C, Arnovitz S, Bugno J, Yu M, Zuo Z, Chen P, Huang H, Ulrich B, Gurbuxani S, Weng H, Strong J, Wang Y, Li Y, Salat J, Li S, Elkahloun AG, Yang Y, Neilly MB, Larson RA, Le Beau MM, Herold T, Bohlander SK, Liu PP, Zhang J, Li Z, He C, Jin J, Hong S, Chen J
(2016 Apr) Nat Commun. 2016 Apr 26;7:11452. doi: 10.1038/ncomms11452. 27116251

Identification of MLL-fusion/MYC dash, verticalmiR-26 dash, verticalTET1 signaling circuit in MLL-rearranged leukemia.
Huang H, Jiang X, Wang J, Li Y, Song CX, Chen P, Li S, Gurbuxani S, Arnovitz S, Wang Y, Weng H, Neilly MB, He C, Li Z, Chen J
(2016 Mar) Cancer Lett. 2016 Mar 28;372(2):157-65. doi: 10.1016/j.canlet.2015.12.032. Epub 2016 Jan 11. 26791235 (Full Text)

PBX3 and MEIS1 Cooperate in Hematopoietic Cells to Drive Acute Myeloid Leukemias Characterized by a Core Transcriptome of the MLL-Rearranged Disease.
Li Z, Chen P, Su R, Hu C, Li Y, Elkahloun AG, Zuo Z, Gurbuxani S, Arnovitz S, Weng H, Wang Y, Li S, Huang H, Neilly MB, Wang GG, Jiang X, Liu PP, Jin J, Chen J
(2016 Feb) Cancer Res. 2016 Feb 1;76(3):619-29. doi: 10.1158/0008-5472.CAN-15-1566. Epub 2016 Jan 8. 26747896 (Full Text)

Overexpression and knockout of miR-126 both promote leukemogenesis.
Li Z, Chen P, Su R, Li Y, Hu C, Wang Y, Arnovitz S, He M, Gurbuxani S, Zuo Z, Elkahloun AG, Li S, Weng H, Huang H, Neilly MB, Wang S, Olson EN, Larson RA, Le Beau MM, Zhang J, Jiang X, Wei M, Jin J, Liu PP, Chen J
(2015 Oct) Blood. 2015 Oct 22;126(17):2005-15. doi: 10.1182/blood-2015-04-639062. Epub 2015 Sep 11. 26361793 (Full Text)

Next-generation sequencing reveals clinically actionable molecular markers in myeloid sarcoma.
Li Z, Stolzel F, Onel K, Sukhanova M, Mirza MK, Yap KL, Borinets O, Larson RA, Stock W, Sasaki MM, Joseph L, Raca G
(2015 Oct) Leukemia. 2015 Oct;29(10):2113-6. doi: 10.1038/leu.2015.81. Epub 2015 Mar 19. 25787914 (Full Text)

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, Chapman K, del Gaudio D
(2015 Jul) J Hum Genet. 2015 Jul;60(7):363-9. doi: 10.1038/jhg.2015.31. Epub 2015 Mar 26. 25809939

RCSD1-ABL2 fusion resulting from a complex chromosomal rearrangement in high-risk B-cell acute lymphoblastic leukemia.
Raca G, Gurbuxani S, Zhang Z, Li Z, Sukhanova M, McNeer J, Stock W
(2015 Apr) Leuk Lymphoma. 2015 Apr;56(4):1145-7. doi: 10.3109/10428194.2014.951851. Epub 2014 Aug 26. 25098428

TRAIL pathway is associated with inhibition of colon cancer by protopanaxadiol.
Zhang Z, Li Z, Wu X, Zhang CF, Calway T, He TC, Du W, Chen J, Wang CZ, Yuan CS
(2015 Jan) J Pharmacol Sci. 2015 Jan;127(1):83-91. doi: 10.1016/j.jphs.2014.11.003. Epub 2014 Nov 18. 25704023 (Full Text)

The dynamics of DNA methylation fidelity during mouse embryonic stem cell self-renewal and differentiation.
Zhao L, Sun MA, Li Z, Bai X, Yu M, Wang M, Liang L, Shao X, Arnovitz S, Wang Q, He C, Lu X, Chen J, Xie H
(2014 Aug) Genome Res. 2014 Aug;24(8):1296-307. doi: 10.1101/gr.163147.113. Epub 2014 May 16. 24835587 (Full Text)

Co-inhibition of NF-kappaB and JNK is synergistic in TNF-expressing human AML.
Volk A, Li J, Xin J, You D, Zhang J, Liu X, Xiao Y, Breslin P, Li Z, Wei W, Schmidt R, Li X, Zhang Z, Kuo PC, Nand S, Zhang J, Chen J, Zhang J
(2014 Jun) J Exp Med. 2014 Jun 2;211(6):1093-108. doi: 10.1084/jem.20130990. Epub 2014 May 19. 24842373 (Full Text)

TET1 plays an essential oncogenic role in MLL-rearranged leukemia.
Huang H, Jiang X, Li Z, Li Y, Song CX, He C, Sun M, Chen P, Gurbuxani S, Wang J, Hong GM, Elkahloun AG, Arnovitz S, Wang J, Szulwach K, Lin L, Street C, Wunderlich M, Dawlaty M, Neilly MB, Jaenisch R, Yang FC, Mulloy JC, Jin P, Liu PP, Rowley JD, Xu M, He C, Chen J
(2013 Jul) Proc Natl Acad Sci U S A. 2013 Jul 16;110(29):11994-9. doi: 10.1073/pnas.1310656110. Epub 2013 Jul 1. 23818607 (Full Text)

miR-9 is an essential oncogenic microRNA specifically overexpressed in mixed lineage leukemia-rearranged leukemia.
Chen P, Price C, Li Z, Li Y, Cao D, Wiley A, He C, Gurbuxani S, Kunjamma RB, Huang H, Jiang X, Arnovitz S, Xu M, Hong GM, Elkahloun AG, Neilly MB, Wunderlich M, Larson RA, Le Beau MM, Mulloy JC, Liu PP, Rowley JD, Chen J
(2013 Jul) Proc Natl Acad Sci U S A. 2013 Jul 9;110(28):11511-6. doi: 10.1073/pnas.1310144110. Epub 2013 Jun 24. 23798388 (Full Text)

Identification of a 24-gene prognostic signature that improves the European LeukemiaNet risk classification of acute myeloid leukemia: an international collaborative study.
Li Z et al.
(2013 Mar) J Clin Oncol. 2013 Mar 20;31(9):1172-81. doi: 10.1200/JCO.2012.44.3184. Epub 2013 Feb 4. 23382473 (Full Text)

PBX3 is an important cofactor of HOXA9 in leukemogenesis.
Li Z, Zhang Z, Li Y, Arnovitz S, Chen P, Huang H, Jiang X, Hong GM, Kunjamma RB, Ren H, He C, Wang CZ, Elkahloun AG, Valk PJ, Dohner K, Neilly MB, Bullinger L, Delwel R, Lowenberg B, Liu PP, Morgan R, Rowley JD, Yuan CS, Chen J
(2013 Feb) Blood. 2013 Feb 21;121(8):1422-31. doi: 10.1182/blood-2012-07-442004. Epub 2012 Dec 20. 23264595 (Full Text)

MiR-495 is a tumor-suppressor microRNA down-regulated in MLL-rearranged leukemia.
Jiang X, Huang H, Li Z, He C, Li Y, Chen P, Gurbuxani S, Arnovitz S, Hong GM, Price C, Ren H, Kunjamma RB, Neilly MB, Salat J, Wunderlich M, Slany RK, Zhang Y, Larson RA, Le Beau MM, Mulloy JC, Rowley JD, Chen J
(2012 Nov) Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19397-402. doi: 10.1073/pnas.1217519109. Epub 2012 Nov 6. 23132946 (Full Text)

Blockade of miR-150 maturation by MLL-fusion/MYC/LIN-28 is required for MLL-associated leukemia.
Jiang X, Huang H, Li Z, Li Y, Wang X, Gurbuxani S, Chen P, He C, You D, Zhang S, Wang J, Arnovitz S, Elkahloun A, Price C, Hong GM, Ren H, Kunjamma RB, Neilly MB, Matthews JM, Xu M, Larson RA, Le Beau MM, Slany RK, Liu PP, Lu J, Zhang J, He C, Chen J
(2012 Oct) Cancer Cell. 2012 Oct 16;22(4):524-35. doi: 10.1016/j.ccr.2012.08.028. 23079661 (Full Text)

Two isoforms of HOXA9 function differently but work synergistically in human MLL-rearranged leukemia.
He M, Chen P, Arnovitz S, Li Y, Huang H, Neilly MB, Wei M, Rowley JD, Chen J, Li Z
(2012 Aug) Blood Cells Mol Dis. 2012 Aug 15;49(2):102-6. doi: 10.1016/j.bcmd.2012.05.003. Epub 2012 May 25. 22633751 (Full Text)

Young intragenic miRNAs are less coexpressed with host genes than old ones: implications of miRNA-host gene coevolution.
He C, Li Z, Chen P, Huang H, Hurst LD, Chen J
(2012 May) Nucleic Acids Res. 2012 May;40(9):4002-12. doi: 10.1093/nar/gkr1312. Epub 2012 Jan 11. 22238379 (Full Text)

Up-regulation of a HOXA-PBX3 homeobox-gene signature following down-regulation of miR-181 is associated with adverse prognosis in patients with cytogenetically abnormal AML.
Li Z, Huang H, Li Y, Jiang X, Chen P, Arnovitz S, Radmacher MD, Maharry K, Elkahloun A, Yang X, He C, He M, Zhang Z, Dohner K, Neilly MB, Price C, Lussier YA, Zhang Y, Larson RA, Le Beau MM, Caligiuri MA, Bullinger L, Valk PJ, Delwel R, Lowenberg B, Liu PP, Marcucci G, Bloomfield CD, Rowley JD, Chen J
(2012 Mar) Blood. 2012 Mar 8;119(10):2314-24. doi: 10.1182/blood-2011-10-386235. Epub 2012 Jan 17. 22251480 (Full Text)

miR-196b directly targets both HOXA9/MEIS1 oncogenes and FAS tumour suppressor in MLL-rearranged leukaemia.
Li Z, Huang H, Chen P, He M, Li Y, Arnovitz S, Jiang X, He C, Hyjek E, Zhang J, Zhang Z, Elkahloun A, Cao D, Shen C, Wunderlich M, Wang Y, Neilly MB, Jin J, Wei M, Lu J, Valk PJ, Delwel R, Lowenberg B, Le Beau MM, Vardiman J, Mulloy JC, Zeleznik-Le NJ, Liu PP, Zhang J, Chen J
(2012 Feb) Nat Commun. 2012 Feb 21;3:688. doi: 10.1038/ncomms1681. 22353710 (Full Text)

MIR29B regulates expression of MLLT11 (AF1Q), an MLL fusion partner, and low MIR29B expression associates with adverse cytogenetics and poor overall survival in AML.
Xiong Y, Li Z, Ji M, Tan AC, Bemis J, Tse JV, Huang G, Park J, Ji C, Chen J, Bemis LT, Bunting KD, Tse W
(2011 Jun) Br J Haematol. 2011 Jun;153(6):753-7. doi: 10.1111/j.1365-2141.2011.08662.x. Epub 2011 Apr 18. 21496004 (Full Text)

MicroRNAs expression signatures are associated with lineage and survival in acute leukemias.
Wang Y, Li Z, He C, Wang D, Yuan X, Chen J, Jin J
(2010 Mar) Blood Cells Mol Dis. 2010 Mar 15;44(3):191-7. doi: 10.1016/j.bcmd.2009.12.010. Epub 2010 Jan 27. 20110180 (Full Text)

Aberrant overexpression and function of the miR-17-92 cluster in MLL-rearranged acute leukemia.
Mi S, Li Z, Chen P, He C, Cao D, Elkahloun A, Lu J, Pelloso LA, Wunderlich M, Huang H, Luo RT, Sun M, He M, Neilly MB, Zeleznik-Le NJ, Thirman MJ, Mulloy JC, Liu PP, Rowley JD, Chen J
(2010 Feb) Proc Natl Acad Sci U S A. 2010 Feb 23;107(8):3710-5. doi: 10.1073/pnas.0914900107. Epub 2010 Feb 2. 20133587 (Full Text)

Consistent deregulation of gene expression between human and murine MLL rearrangement leukemias.
Li Z, Luo RT, Mi S, Sun M, Chen P, Bao J, Neilly MB, Jayathilaka N, Johnson DS, Wang L, Lavau C, Zhang Y, Tseng C, Zhang X, Wang J, Yu J, Yang H, Wang SM, Rowley JD, Chen J, Thirman MJ
(2009 Feb) Cancer Res. 2009 Feb 1;69(3):1109-16. doi: 10.1158/0008-5472.CAN-08-3381. Epub 2009 Jan 20. 19155294 (Full Text)

miR-21 plays a pivotal role in gastric cancer pathogenesis and progression.
Zhang Z, Li Z, Gao C, Chen P, Chen J, Liu W, Xiao S, Lu H
(2008 Dec) Lab Invest. 2008 Dec;88(12):1358-66. doi: 10.1038/labinvest.2008.94. Epub 2008 Sep 15. 18794849

Distinct microRNA expression profiles in acute myeloid leukemia with common translocations.
Li Z, Lu J, Sun M, Mi S, Zhang H, Luo RT, Chen P, Wang Y, Yan M, Qian Z, Neilly MB, Jin J, Zhang Y, Bohlander SK, Zhang DE, Larson RA, Le Beau MM, Thirman MJ, Golub TR, Rowley JD, Chen J
(2008 Oct) Proc Natl Acad Sci U S A. 2008 Oct 7;105(40):15535-40. doi: 10.1073/pnas.0808266105. Epub 2008 Oct 1. 18832181 (Full Text)

MicroRNA expression signatures accurately discriminate acute lymphoblastic leukemia from acute myeloid leukemia.
Mi S, Lu J, Sun M, Li Z, Zhang H, Neilly MB, Wang Y, Qian Z, Jin J, Zhang Y, Bohlander SK, Le Beau MM, Larson RA, Golub TR, Rowley JD, Chen J
(2007 Dec) Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):19971-6. Epub 2007 Dec 4. 18056805 (Full Text)