L Persani


Affiliation: University of Milan
Country: Italy


  1. Cangiano B, Duminuco P, Vezzoli V, Guizzardi F, Chiodini I, Corona G, et al. Evidence for a Common Genetic Origin of Classic and Milder Adult-Onset Forms of Isolated Hypogonadotropic Hypogonadism. J Clin Med. 2019;8: pubmed publisher
    ..The identification of a genetic predisposition can improve the familial and individual management of AO-IHH and explain the heritability of congenital IHH. ..
  2. Persani L, Rurale G, de Filippis T, Galazzi E, Muzza M, Fugazzola L. Genetics and management of congenital hypothyroidism. Best Pract Res Clin Endocrinol Metab. 2018;32:387-396 pubmed publisher
  3. Persani L, de Filippis T, Colombo C, Gentilini D. GENETICS IN ENDOCRINOLOGY: Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks. Eur J Endocrinol. 2018;179:R111-R123 pubmed publisher
    ..We finally give insights on the terminology and requirements for the implementation of NGS in research and diagnostic labs. ..
  4. Marelli F, Persani L. Role of TRs in Zebrafish Development. Methods Mol Biol. 2018;1801:287-298 pubmed publisher
    ..Moreover, we will explore the methodologies applied to zebrafish biology to knock down a gene of interest and to analyze in vivo the molecular mechanisms of the mutated receptors. ..
  5. Persani L, Rossetti R, Di Pasquale E, Cacciatore C, Fabre S. The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders. Hum Reprod Update. 2014;20:869-83 pubmed publisher
    ..Recent outcomes indicate that the close interactions of BMP15/GDF9 have a critical biological impact that should be taken into account in future studies. ..
  6. Persani L, Bonomi M. Uncertainties in endocrine substitution therapy for central endocrine insufficiencies: hypothyroidism. Handb Clin Neurol. 2014;124:397-405 pubmed publisher
    ..The management of CeH replacement is further complicated by the frequent combination with other pituitary deficiencies and their treatment. ..
  7. Colombo C, Minna E, Rizzetti M, Romeo P, Lecis D, Persani L, et al. The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies. Orphanet J Rare Dis. 2015;10:25 pubmed publisher
    ..Moreover, an effect on the phenotype was observed in the RET-G691S/S891A patients, thus suggesting that the analysis of this polymorphism could contribute to the decision on the more appropriate clinical and follow-up management. ..
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    Bassi I, André V, Marelli F, Vezzoli V, Merlo G, Cariboni A, et al. The zebrafish: an emerging animal model for investigating the hypothalamic regulation of reproduction. Minerva Endocrinol. 2016;41:250-65 pubmed
    ..Moreover, the recent availability of several transgenic zebrafish reporter lines makes it an excellent model for the study of the oligogenic mechanisms leading to CHH. ..
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    Vezzoli V, Duminuco P, Bassi I, Guizzardi F, Persani L, Bonomi M. The complex genetic basis of congenital hypogonadotropic hypogonadism. Minerva Endocrinol. 2016;41:223-39 pubmed
    ..This review summarizes the current state of knowledge on the complex genetic basis of congenital hypogonadotropic hypogonadism and aims to be accessible to both researchers and clinicians. ..

More Information


  1. Grassi E, Dicitore A, Negri I, Borghi M, Vitale G, Persani L. 8-Cl-cAMP and PKA I-selective cAMP analogs effectively inhibit undifferentiated thyroid cancer cell growth. Endocrine. 2017;56:388-398 pubmed publisher
  2. 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. ..
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    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. ..
  4. 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...
  5. 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...
  6. 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 RTHα and RTHβ key manifestations representing new models in which the functional consequences of human TR mutations can be rapidly and faithfully evaluated. ..
  7. 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. ..