Amit Majithia

Title(s)	Associate Professor, Medicine
School	Vc-health Sciences-schools
Address	9500 Gilman Drive # La Jolla CA 92093
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Overview

Websites

majithialab.ucsd.edu

Research

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

Bibliographic

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.

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.

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: 2
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: Fields:
Bio Biochemistry
Translation:Humans Cells
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:
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: 4 Fields:
End Endocrinology
Translation:Humans
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: 1
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: 17 Fields:
End Endocrinology
Translation:Humans
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: 7 Fields:
End Endocrinology
Translation:Humans
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: 28 Fields:
End Endocrinology The Therapeutics
Translation:Humans
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: 20 Fields:
Med Medical Informatics
Translation:Humans
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:
Gen Genetics
Translation:Humans
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: 26 Fields:
Gen Genetics
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: 30 Fields:
End Endocrinology
Translation:Humans
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: 6 Fields:
Met Metabolism
Translation:Humans Cells
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: 9 Fields:
Bio Biology Emb Embryology
Translation:Animals Cells
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: 8 Fields:
Met Metabolism
Translation:Humans Cells
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: 16 Fields:
End Endocrinology
Translation:Humans Cells
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:
End Endocrinology
Translation:Humans
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: 112 Fields:
Gen Genetics
Translation:Humans Cells
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: 91 Fields:
Cel Cell Biology Met Metabolism
Translation:Animals Cells
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: 92 Fields:
Sci Science
Translation:Humans Cells
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: 19 Fields:
Cel Cell Biology
Translation:Animals Cells
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: 16 Fields:
End Endocrinology
Translation:Humans
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:
Bio Biology Emb Embryology
Translation:Animals Cells
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: 6 Fields:
End Endocrinology Met Metabolism
Translation:Humans
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: 33 Fields:
Bio Biochemistry
Translation:Animals Cells
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: 82 Fields:
Mol Molecular Biology
Translation:Animals Cells