Genomes and Genes
Affiliation: University of Milan
- Persani L, Bonomi M. The multiple genetic causes of central hypothyroidism. Best Pract Res Clin Endocrinol Metab. 2017;31:255-263 pubmed publisher..The recently identified candidate gene IGSF1 appears frequently involved. This review provides an updated illustration of the different genetic defects accounting for CeH. ..
- Persani L, Calebiro D, Bonomi M. Technology Insight: modern methods to monitor protein-protein interactions reveal functional TSH receptor oligomerization. Nat Clin Pract Endocrinol Metab. 2007;3:180-90 pubmed..Oligomerization between inactive mutants and wild-type TSHR provides a molecular explanation for the dominant forms of TSH resistance. ..
- Persani L, Rossetti R, Cacciatore C, Bonomi M. Primary Ovarian Insufficiency: X chromosome defects and autoimmunity. J Autoimmun. 2009;33:35-41 pubmed publisher..Several data indicate that POI has a strong genetic component. In this manuscript we discuss the X chromosome abnormalities that are associated with POI...
- Persani L. Clinical review: Central hypothyroidism: pathogenic, diagnostic, and therapeutic challenges. J Clin Endocrinol Metab. 2012;97:3068-78 pubmed publisher..This condition raises several challenges for clinicians; therefore, a review of the most relevant findings on CH epidemiology, pathogenesis, and clinical management has been performed...
- Marelli F, Carra S, Agostini M, Cotelli F, Peeters R, Chatterjee K, et al. Patterns of thyroid hormone receptor expression in zebrafish and generation of a novel model of resistance to thyroid hormone action. Mol Cell Endocrinol. 2016;424:102-17 pubmed publisher..Therefore, our morphants recapitulate the RTHÎ± and RTHÎ² key manifestations representing new models in which the functional consequences of human TR mutations can be rapidly and faithfully evaluated. ..
- Marelli F, Persani L. Role of Jagged1-Notch pathway in thyroid development. J Endocrinol Invest. 2018;41:75-81 pubmed publisher..Furthermore, we will discuss the role of JAG1 variants in congenital thyroid defects. ..