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Amit Majithia

Title(s)Assistant Adjunct Professor, Pediatrics
SchoolHealth Sciences
Phone858-822-0727
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    Collapse Research 
    Collapse Research Activities and Funding
    Prospective Functional Characterization of All Possible Missense Variants in HNF1A
    NIH/NIDDK R03DK113328Apr 1, 2017 - Mar 31, 2019
    Role: Principal Investigator
    Making sense of sequence - high throughput experiments in human adipocytes
    NIH/NIDDK K08DK102877Sep 1, 2014 - Jun 30, 2019
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Jiao Y, Ahmed U, Sim MFM, Bejar A, Zhang X, Talukder MMU, Rice R, Flannick J, Podgornaia AI, Reilly DF, Engreitz JM, Kost-Alimova M, Hartland K, Mercader JM, Georges S, Wagh V, Tadin-Strapps M, Doench JG, Edwardson JM, Rochford JJ, Rosen ED, Majithia AR. Discovering metabolic disease gene interactions by correlated effects on cellular morphology. Mol Metab. 2019 Jun; 24:108-119. PMID: 30940487.
      View in: PubMed
    2. Broekema MF, Massink MPG, Donato C, de Ligt J, Schaarschmidt J, Borgman A, Schooneman MG, Melchers D, Gerding MN, Houtman R, Bonvin AMJJ, Majithia AR, Monajemi H, van Haaften GW, Soeters MR, Kalkhoven E. Natural helix 9 mutants of PPAR? differently affect its transcriptional activity. Mol Metab. 2019 Feb; 20:115-127. PMID: 30595551.
      View in: PubMed
    3. Agostini M, Schoenmakers E, Beig J, Fairall L, Szatmari I, Rajanayagam O, Muskett FW, Adams C, Marais AD, O'Rahilly S, Semple RK, Nagy L, Majithia AR, Schwabe JWR, Blom DJ, Murphy R, Chatterjee K, Savage DB. A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations. Diabetes. 2018 06; 67(6):1086-1092. PMID: 29622583.
      View in: PubMed
    4. Majithia AR, Wiltschko AB, Zheng H, Walford GA, Nathan DM. Rate of Change of Premeal Glucose Measured by Continuous Glucose Monitoring Predicts Postmeal Glycemic Excursions in Patients With Type 1 Diabetes: Implications for Therapy. J Diabetes Sci Technol. 2018 01; 12(1):76-82. PMID: 28868899.
      View in: PubMed
    5. Majithia AR, Tsuda B, Agostini M, Gnanapradeepan K, Rice R, Peloso G, Patel KA, Zhang X, Broekema MF, Patterson N, Duby M, Sharpe T, Kalkhoven E, Rosen ED, Barroso I, Ellard S, Kathiresan S, O'Rahilly S, Chatterjee K, Florez JC, Mikkelsen T, Savage DB, Altshuler D. Prospective functional classification of all possible missense variants in PPARG. Nat Genet. 2016 12; 48(12):1570-1575. PMID: 27749844.
      View in: PubMed
    6. Dai N, Zhao L, Wrighting D, Krämer D, Majithia A, Wang Y, Cracan V, Borges-Rivera D, Mootha VK, Nahrendorf M, Thorburn DR, Minichiello L, Altshuler D, Avruch J. IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteins. Cell Metab. 2015 Apr 07; 21(4):609-21. PMID: 25863250.
      View in: PubMed
    7. Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB, Rosen ED, Altshuler D. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Proc Natl Acad Sci U S A. 2014 Sep 09; 111(36):13127-32. PMID: 25157153.
      View in: PubMed
    8. Majithia AR, Jablonski KA, McAteer JB, Mather KJ, Goldberg RB, Kahn SE, Florez JC. Association of the SLC30A8 missense polymorphism R325W with proinsulin levels at baseline and after lifestyle, metformin or troglitazone intervention in the Diabetes Prevention Program. Diabetologia. 2011 Oct; 54(10):2570-4. PMID: 21779873.
      View in: PubMed
    9. Majithia AR, Florez JC. Clinical translation of genetic predictors for type 2 diabetes. Curr Opin Endocrinol Diabetes Obes. 2009 Apr; 16(2):100-6. PMID: 19306524.
      View in: PubMed
    10. Grapin-Botton A, Majithia AR, Melton DA. Key events of pancreas formation are triggered in gut endoderm by ectopic expression of pancreatic regulatory genes. Genes Dev. 2001 Feb 15; 15(4):444-54. PMID: 11230152.
      View in: PubMed