Amit Majithia

Title(s)Associate Professor, Medicine
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Collapse Research 
    Collapse Research Activities and Funding
    Credentialing novel cardiovascular disease genes in women by sex-specific genomic investigation of insulin resistance
    NIH R01HL159760Aug 25, 2021 - Jun 30, 2025
    Role: Principal Investigator
    Combining experiments of man and nature to target human insulin resistance
    NIH R01DK123422Feb 10, 2020 - Dec 31, 2024
    Role: Principal Investigator
    Prospective Functional Characterization of All Possible Missense Variants in HNF1A
    NIH R03DK113328Apr 1, 2017 - Mar 31, 2020
    Role: Principal Investigator
    Making sense of sequence - high throughput experiments in human adipocytes
    NIH K08DK102877Sep 1, 2014 - Jan 15, 2020
    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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Genome-wide discovery and integrative genomic characterization of insulin resistance loci using serum triglycerides to HDL-cholesterol ratio as a proxy. Nat Commun. 2024 Sep 14; 15(1):8068. DeForest N, Wang Y, Zhu Z, Dron JS, Koesterer R, Natarajan P, Flannick J, Amariuta T, Peloso GM, Majithia AR. PMID: 39277575; PMCID: PMC11401929.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins. Cell Genom. 2023 Jul 12; 3(7):100339. DeForest N, Kavitha B, Hu S, Isaac R, Krohn L, Wang M, Du X, De Arruda Saldanha C, Gylys J, Merli E, Abagyan R, Najmi L, Mohan V, Alnylam Human Genetics, AMP-T2D Consortium, Flannick J, Peloso GM, Gordts PLSM, Heinz S, Deaton AM, Khera AV, Olefsky J, Radha V, Majithia AR. PMID: 37492105; PMCID: PMC10363808.
      View in: PubMed   Mentions: 7     Fields:    
    3. Glycocalyx engineering with heparan sulfate mimetics attenuates Wnt activity during adipogenesis to promote glucose uptake and metabolism. J Biol Chem. 2023 05; 299(5):104611. Trieger GW, Pessentheiner AR, Purcell SC, Green CR, DeForest N, Willert K, Majithia AR, Metallo CM, Godula K, Gordts PLSM. PMID: 36931394; PMCID: PMC10164900.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    4. A seven-transmembrane protein-TM7SF3, resides in nuclear speckles and regulates alternative splicing. iScience. 2022 Nov 18; 25(11):105270. Isaac R, Vinik Y, Mikl M, Nadav-Eliyahu S, Shatz-Azoulay H, Yaakobi A, DeForest N, Majithia AR, Webster NJG, Shav-Tal Y, Elhanany E, Zick Y. PMID: 36304109; PMCID: PMC9593240.
      View in: PubMed   Mentions: 1  
    5. Accuracy and Glycemic Efficacy of Continuous Glucose Monitors in Critically Ill COVID-19 Patients: A Retrospective Study. J Diabetes Sci Technol. 2023 05; 17(3):642-648. Boeder S, Kobayashi E, Ramesh G, Serences B, Kulasa K, Majithia AR. PMID: 35876258; PMCID: PMC10159791.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    6. Medication Optimization Among People With Type 2 Diabetes Participating in a Continuous Glucose Monitoring-Driven Virtual Care Program: Prospective Study. JMIR Form Res. 2022 Apr 05; 6(4):e31629. Majithia AR, Erani DM, Kusiak CM, Layne JE, Lee AA, Colangelo FR, Romanelli RJ, Robertson S, Brown SM, Dixon RF, Zisser H. PMID: 35147501; PMCID: PMC9019640.
      View in: PubMed   Mentions:
    7. Genetics of Type 2 Diabetes: Implications from Large-Scale Studies. Curr Diab Rep. 2022 05; 22(5):227-235. DeForest N, Majithia AR. PMID: 35305202; PMCID: PMC9072491.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    8. Human Genetics to Identify Therapeutic Targets for NAFLD: Challenges and Opportunities. Front Endocrinol (Lausanne). 2021; 12:777075. Du X, DeForest N, Majithia AR. PMID: 34950105; PMCID: PMC8688763.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    9. Remote Application and Use of Real-Time Continuous Glucose Monitoring by Adults with Type 2 Diabetes in a Virtual Diabetes Clinic. Diabetes Technol Ther. 2021 02; 23(2):128-132. Bergenstal RM, Layne JE, Zisser H, Gabbay RA, Barleen NA, Lee AA, Majithia AR, Parkin CG, Dixon RF. PMID: 33026839; PMCID: PMC7868574.
      View in: PubMed   Mentions: 39     Fields:    Translation:Humans
    10. Glycemic Outcomes in Adults With Type 2 Diabetes Participating in a Continuous Glucose Monitor-Driven Virtual Diabetes Clinic: Prospective Trial. J Med Internet Res. 2020 08 28; 22(8):e21778. Majithia AR, Kusiak CM, Armento Lee A, Colangelo FR, Romanelli RJ, Robertson S, Miller DP, Erani DM, Layne JE, Dixon RF, Zisser H. PMID: 32856597; PMCID: PMC7486672.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    11. Thousands of missing variants in the UK Biobank are recoverable by genome realignment. Ann Hum Genet. 2020 05; 84(3):214-220. Jia T, Munson B, Lango Allen H, Ideker T, Majithia AR. PMID: 32232836; PMCID: PMC7402360.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    12. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med. 2020 03 17; 12(1):28. Lal D, May P, Perez-Palma E, Samocha KE, Kosmicki JA, Robinson EB, Møller RS, Krause R, Nürnberg P, Weckhuysen S, De Jonghe P, Guerrini R, Niestroj LM, Du J, Marini C, EuroEPINOMICS-RES Consortium, Ware JS, Kurki M, Gormley P, Tang S, Wu S, Biskup S, Poduri A, Neubauer BA, Koeleman BPC, Helbig KL, Weber YG, Helbig I, Majithia AR, Palotie A, Daly MJ. PMID: 32183904; PMCID: PMC7079346.
      View in: PubMed   Mentions: 34     Fields:    
    13. A Virtual Type 2 Diabetes Clinic Using Continuous Glucose Monitoring and Endocrinology Visits. J Diabetes Sci Technol. 2020 09; 14(5):908-911. Dixon RF, Zisser H, Layne JE, Barleen NA, Miller DP, Moloney DP, Majithia AR, Gabbay RA, Riff J. PMID: 31762302; PMCID: PMC7477772.
      View in: PubMed   Mentions: 34     Fields:    Translation:Humans
    14. Discovering metabolic disease gene interactions by correlated effects on cellular morphology. Mol Metab. 2019 06; 24:108-119. 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. PMID: 30940487; PMCID: PMC6531784.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    15. Integrated actions of mTOR complexes 1 and 2 for growth and development of Dictyostelium. Int J Dev Biol. 2019; 63(8-9-10):521-527. Jaiswal P, Majithia AR, Rosel D, Liao XH, Khurana T, Kimmel AR. PMID: 31840789.
      View in: PubMed   Mentions: 11     Fields:    Translation:AnimalsCells
    16. Natural helix 9 mutants of PPARγ differently affect its transcriptional activity. Mol Metab. 2019 02; 20:115-127. 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. PMID: 30595551; PMCID: PMC6358588.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    17. A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations. Diabetes. 2018 06; 67(6):1086-1092. 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. PMID: 29622583; PMCID: PMC5967605.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    18. 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. Majithia AR, Wiltschko AB, Zheng H, Walford GA, Nathan DM. PMID: 28868899; PMCID: PMC5761983.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    19. Prospective functional classification of all possible missense variants in PPARG. Nat Genet. 2016 12; 48(12):1570-1575. 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, UK Monogenic Diabetes Consortium, Kathiresan S, Myocardial Infarction Genetics Consortium, O'Rahilly S, UK Congenital Lipodystrophy Consortium, Chatterjee K, Florez JC, Mikkelsen T, Savage DB, Altshuler D. PMID: 27749844; PMCID: PMC5131844.
      View in: PubMed   Mentions: 117     Fields:    Translation:HumansCells
    20. 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. 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. PMID: 25863250; PMCID: PMC4663978.
      View in: PubMed   Mentions: 96     Fields:    Translation:AnimalsCells
    21. 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. Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB, GoT2D Consortium, NHGRI JHS/FHS Allelic Spectrum Project, SIGMA T2D Consortium, T2D-GENES Consortium, Rosen ED, Altshuler D. PMID: 25157153; PMCID: PMC4246964.
      View in: PubMed   Mentions: 95     Fields:    Translation:HumansCells
    22. TOR complex 2 (TORC2) in Dictyostelium suppresses phagocytic nutrient capture independently of TORC1-mediated nutrient sensing. J Cell Sci. 2012 Jan 01; 125(Pt 1):37-48. Rosel D, Khurana T, Majithia A, Huang X, Bhandari R, Kimmel AR. PMID: 22266904; PMCID: PMC3269021.
      View in: PubMed   Mentions: 25     Fields:    Translation:AnimalsCells
    23. 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. Majithia AR, Jablonski KA, McAteer JB, Mather KJ, Goldberg RB, Kahn SE, Florez JC, DPP Research Group. PMID: 21779873; PMCID: PMC3444290.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    24. Combinatorial cell-specific regulation of GSK3 directs cell differentiation and polarity in Dictyostelium. Development. 2011 Feb; 138(3):421-30. Kim L, Brzostowski J, Majithia A, Lee NS, McMains V, Kimmel AR. PMID: 21205787; PMCID: PMC3014631.
      View in: PubMed   Mentions: 10     Fields:    Translation:AnimalsCells
    25. Clinical translation of genetic predictors for type 2 diabetes. Curr Opin Endocrinol Diabetes Obes. 2009 Apr; 16(2):100-6. Majithia AR, Florez JC. PMID: 19306524; PMCID: PMC2938779.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    26. Growth control via TOR kinase signaling, an intracellular sensor of amino acid and energy availability, with crosstalk potential to proline metabolism. Amino Acids. 2008 Nov; 35(4):761-70. Liao XH, Majithia A, Huang X, Kimmel AR. PMID: 18651095.
      View in: PubMed   Mentions: 35     Fields:    Translation:AnimalsCells
    27. 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. Grapin-Botton A, Majithia AR, Melton DA. PMID: 11230152; PMCID: PMC312631.
      View in: PubMed   Mentions: 85     Fields:    Translation:AnimalsCells
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