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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. 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. 2018 Dec 16. PMID: 30595551.
      View in: PubMed
    2. 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
    3. 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 Jan; 12(1):76-82. PMID: 28868899.
      View in: PubMed
    4. 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
    5. 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; PMCID: PMC4663978.
    6. 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
    7. 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; PMCID: PMC2938779.