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Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.
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. DeForest N, et al. Among authors: majithia ar. Cell Genom. 2023 May 30;3(7):100339. doi: 10.1016/j.xgen.2023.100339. eCollection 2023 Jul 12. Cell Genom. 2023. PMID: 37492105 Free PMC article.
Clinical translation of genetic predictors for type 2 diabetes.
Majithia AR, Florez JC. Majithia AR, et al. Curr Opin Endocrinol Diabetes Obes. 2009 Apr;16(2):100-6. doi: 10.1097/med.0b013e3283292354. Curr Opin Endocrinol Diabetes Obes. 2009. PMID: 19306524 Free PMC article. Review.
A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.
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. Agostini M, et al. Among authors: majithia ar. Diabetes. 2018 Jun;67(6):1086-1092. doi: 10.2337/db17-1236. Epub 2018 Apr 5. Diabetes. 2018. PMID: 29622583 Free PMC article.
Prospective functional classification of all possible missense variants in PPARG.
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. Majithia AR, et al. Nat Genet. 2016 Dec;48(12):1570-1575. doi: 10.1038/ng.3700. Epub 2016 Oct 17. Nat Genet. 2016. PMID: 27749844 Free PMC article.
20 results