Person
Shavit, Jordan
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Biography and Research Interest
Our interest is in “clinically directed basic research” in the field of blood coagulation disorders. We have been developing zebrafish models of human clotting diseases using targeted mutagenesis with zinc finger nuclease (ZFN), transcription activator-like effector nuclease (TALEN), and CRISPR/Cas (clustered regularly interspaced short palindromic repeats) endoribonuclease technology. Sensitized ENU mutagenesis and small molecule screens are currently being performed on zebrafish mutants to identify modifier loci.
Non-Zebrafish Publications
1. Shavit JA and Motto DG. Coagulation and metastasis; an unexpected role for von Willebrand factor. J Thromb Haemost 4:517-518, 2006.
2. Lemmerhirt HL, Shavit JA, Levy GG, Cole SM, Long JC, and Ginsburg D. Enhanced VWF biosynthesis and elevated plasma VWF due to a natural variant in the murine Vwf gene. Blood 108:3061-7, 2006.
3. Lemmerhirt HL, Broman KW, Shavit JA, and Ginsburg D. Genetic regulation of plasma von Willebrand factor levels: QTL analysis in a mouse model. J Thromb Haemost 5:329-335, 2007.
4. Shavit JA, Manichaikul A, Lemmerhirt HL, Broman KW, Ginsburg D. Modifiers of von Willebrand factor identified by natural variation in inbred strains of mice. Blood, 114:5368-74, 2009.
5. Peters LL, Shavit JA, Lambert AJ, Tsaih S, Li Q, Su Z, Leduc MS, Paigen B, Churchill, GA, Ginsburg D, and Brugnara C. Sequence variation at multiple loci influences red cell hemoglobin concentration. Blood, 116:e139-49, 2010.
6. Chen X, Leto D, Xiao J, Goss J, Wang Q, Shavit JA, Xiong T, Yu G, Ginsburg D, Toomre D, Xu Z, and Saltiel AR. The function of the exocyst is regulated by effector phosphorylation. Nat Cell Biol, 13:580-8, 2011.
7. Shavit JA. The bleeding edge of symptom assessment. Pediatr Blood Cancer, 58:657-8, 2012.
8. Desch KC, Ozel AB, Siemieniak D, Kalish Y, Shavit JA, Thornburg CD, Sharathkumar AA, McHugh CP, Laurie CC, Crenshaw A, Mirel DB, Kim Y, Cropp CD, Molloy AM, Kirke PN, Bailey-Wilson JE, Wilson AF, Mills JL, Scott JM, Brody LC, Li JZ, Ginsburg D. Linkage analysis identifies a novel locus for plasma von Willebrand factor undetected by genome-wide association. Proc Natl Acad Sci USA, 110:588-93, 2013.
9. Dang, LT, Shavit JA, Singh, RK, Joshi SM, Leber SM, Barks, JD, and Shellhaas RA. Subdural hemorrhages associated with antithrombotic therapy in infants with cerebral atrophy, Pediatrics, 134(3):e889-93, 2014.
10. Weyand AC, Lombel RM, Pipe SW, and Shavit JA. The role of platelets and ε-aminocaproic acid in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome associated hemorrhage. Pediatr Blood Cancer, 63:561-3, 2016.
11. Hacker KE, Fahey CC, Shinsky SA, Chiang YJ, DiFiore JV, Jha DK, Vo AH, Shavit JA, Davis IJ, Strahl BD, Rathmell WK. Structure/function analysis of recurrent mutations in SETD2 reveals a critical and conserved role for a SET domain residue in maintaining protein stability and H3K36 trimethylation. J Biol Chem, 291:21283-95, 2016.
12. Weyand AC and Shavit JA. Agent specific effects of anticoagulant induced alopecia. Res Pract Thromb Haemost, 1:90-92, 2017.
13. Nielsen JB, Thorolfsdottir RB, Fritsche LG, Zhou W…(49 total authors)…Shavit JA…Stefansson K, Abecasis GR, Hveem K, and Willer CJ. Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. Nat Genet, 50:1234-9, 2018.
14. Weyand AC, Dorfman A, Shavit JA, and Pipe SW. Emicizumab prophylaxis to facilitate anticoagulation therapy for management of intra-atrial thrombosis in severe hemophilia with an inhibitor. Haemophilia, 25:e203-5, 2019.
15. Khoriaty R, Ozel AB, Ramdas S, Ross C, Desch K, Shavit JA, Everett L, Siemieniak D, Li JZ, Ginsburg D. Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia. Br J Haematol, 186:574-9, 2019.
16. Maitra D, Cunha JB, Elenbaas JS, Bonkovsky HL, Shavit JA, and Omary MB. Porphyrin-induced protein oxidation and aggregation as a mechanism of porphyria associated cell injury. Cell Mol Gastroenterol Hepatol, 8:535-48, 2019.
17. Weyand AC, Flood VH, Shavit JA, and Pipe SW. Efficacy of emicizumab in a pediatric patient with type 3 von Willebrand disease and alloantibodies. Blood Adv, 3:2748-50, 2019.
18. Helms AS, Tang VT, O’Leary TS, Friedline S, Wauchope M, Arora A, Wasserman AH, Smith ED, Lee LM, Wen X, Shavit JA, Liu AP, Previs MJ, and Day SM. Effects of MYBPC3 loss of function mutations preceding hypertrophic cardiomyopathy. JCI Insight, 5:133782, 2020.