Maura Agostini

Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension

Inês Barroso, Mark Gurnell, Vivion Crowley et al. · Nature · 1999 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +12

Human Metabolic Syndrome Resulting From Dominant-Negative Mutations in the Nuclear Receptor Peroxisome Proliferator-Activated Receptor-γ

David B. Savage, Garry D. Tan, Carlo L. Acerini et al. · Diabetes · 2003 · 429 citations · Full text

Medicine, Endocrinology, Pediatrics +17

Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Erik Schoenmakers, Maura Agostini, Catherine Mitchell et al. · Journal of Clinical Investigation · 2010 · 310 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Prospective functional classification of all possible missense variants in PPARG

Amit R. Majithia, Ben Tsuda, Maura Agostini et al. · Nature Genetics · 2016 · 274 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A Dominant-negative Peroxisome Proliferator-activated Receptor γ (PPARγ) Mutant Is a Constitutive Repressor and Inhibits PPARγ-mediated Adipogenesis

Mark Gurnell, John M. Wentworth, Maura Agostini et al. · Journal of Biological Chemistry · 2000 · 264 citations · Full text

Medicine, Endocrinology, Pharmacology +17