Agostini, Maura

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

Barroso, I., Gurnell, M., Crowley, V. E. F., Agostini, M., Schwabe, J. W., Soos, M. A., Maslen, G. L., Williams, T. D. M., Lewis, H., Schafer, A. J., et al. (1999) · Nature

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

Schoenmakers, E., Agostini, M., Mitchell, C., Schoenmakers, N., Papp, L., Rajanayagam, O., Padidela, R., Ceron-Gutierrez, L., Doffinger, R., Prevosto, C., et al. (2010) · Journal of Clinical Investigation

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Prospective functional classification of all possible missense variants in PPARG

UK Monogenic Diabetes Consortium, Majithia, A. R., Myocardial Infarction Genetics Consortium, UK Congenital Lipodystrophy Consortium, Tsuda, B., Agostini, M., Gnanapradeepan, K., Rice, R., Peloso, G., Patel, K. A., et al. (2016) · Nature Genetics

Genomics and Rare DiseasesPeroxisome Proliferator-Activated Receptors

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Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients

Moran, C., Agostini, M., Visser, W. E., Schoenmakers, E., Schoenmakers, N., Offiah, A. C., Poole, K., Rajanayagam, O., Lyons, G., Halsall, D., et al. (2014) · The Lancet Diabetes & Endocrinology

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

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Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins

Moran, C., Agostini, M., McGowan, A., Schoenmakers, E., Fairall, L., Lyons, G., Rajanayagam, O., Watson, L., Offiah, A., Barton, J., et al. (2017) · Thyroid®

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

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