Research Topics
Genomes and GenesSpecies | L FugazzolaSummaryAffiliation: Ospedale Maggiore Country: Italy Publications
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Publications
Expanding use of recombinant hTSHL Fugazzola
Endocrine Unit and Department of Medical Sciences, Fondazione Policlinico IRCCS and University of Milan, Italy
Ann Endocrinol (Paris) 68:220-3. 2007....
Microchimerism and endocrine disordersLaura Fugazzola
Department of Medical Sciences, University of Milan, Endocrine Unit Padiglione Granelli, Istituto di Ricovero e Cura a Carattere Scientifico Ca Granda, Via Francesco Sforza, 35, 20122 Milan, Italy
J Clin Endocrinol Metab 97:1452-61. 2012..Microchimeric cells can persist in blood and tissues for decades...- High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 proteinLaura Fugazzola
Department of Medical Sciences, University of Milan, Milan, Italy
Eur J Endocrinol 157:331-8. 2007..It is caused by mutations in the SLC26A4 gene. The encoded transmembrane protein, called pendrin, has been found to be able to transport chloride and other anions... - RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian seriesLaura Fugazzola
Department of Medical Sciences, University of Milan, Milan, Italy
Clin Endocrinol (Oxf) 69:418-25. 2008..Highly discrepant data about the different distribution of RET germline single nucleotide polymorphisms (SNPs) among patients with sporadic medullary thyroid cancer (sMTC) and controls are available... - Fetal cell microchimerism in human cancersLaura Fugazzola
Department of Medical Sciences, University of Milan and Endocrine Unit, Fondazione Policlinico IRCCS, Milan, Italy
Cancer Lett 287:136-41. 2010..In this review, the possible role and the consequences of fetal cell microchimerism, as emerged from studies in animal models and in women with different types of cancer, will be presented... - Correlation between B-RAFV600E mutation and clinico-pathologic parameters in papillary thyroid carcinoma: data from a multicentric Italian study and review of the literatureL Fugazzola
Institute of Endocrine Sciences, University of Milan and Fondazione Policlinico IRCCS, Milan, Italy
Endocr Relat Cancer 13:455-64. 2006..Finally, no correlation was found with a poorer prognosis and a worse outcome after a median follow-up of 72 months... - Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancyLaura Fugazzola
Department of Medical Sciences, University of Milan and Fondazione Policlinico IRCCS, Via F Sforza, 35 20122, Milan, Italy
Eur J Nucl Med Mol Imaging 34:1498-503. 2007..The aim of this study was to verify the efficacy and safety of new protocols for rhTSH (Thyrogen) testing during L-thyroxine replacement in the differential diagnosis of CH... - Fetal microchimerism as an explanation of diseaseLaura Fugazzola
Endocrine Unit, Fondazione IRCCS Ca Granda, Universita degli Studi di Milano, Via Francesco Sforza 35, 20122 Milan, Italy
Nat Rev Endocrinol 7:89-97. 2011..Moreover, the mechanisms by which fetal cell microchimerism is believed to modulate the protection against cancer or tumor progression will be discussed, together with future research directions... - DUOXS defects: Genotype-phenotype correlationsL Fugazzola
Endocrine Unit, IRCCS Ca Granda, 35, Via F Sforza, 20122 Milan, Italy
Ann Endocrinol (Paris) 72:82-6. 2011..In the present paper, the genetic and clinical features of CH caused by defects in the peroxide generator system will be revised... - Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defectL Fugazzola
Institute of Endocrine Sciences, School of Medicine, University of Milan, Milan, Italy
J Clin Endocrinol Metab 88:3264-71. 2003..In summary, we report one family with TIOD due to monoallelic expression of a mutant TPO allele in the thyroid. This mechanism might be generally involved in TIOD cases with a single TPO-mutated allele... - Comparison of the breakpoint regions of ELE1 and RET genes involved in the generation of RET/PTC3 oncogene in sporadic and in radiation-associated papillary thyroid carcinomasI Bongarzone
Division of Experimental Oncology A, Istituto Nazionale Tumori, Milan, Italy
Genomics 42:252-9. 1997..In addition, we observed an interesting distribution of the post-Chernobyl breakpoints in ELE1-bcr located within an Alu element, or in between two close Alu elements, and always in A+T-rich regions... - Genetic analyses and evaluation of peripheral parameters of thyroid hormone action for the differential diagnosis of RTH. A novel heterozygous missense mutation (M334T) discoveredD Mannavola
Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS, Italy
J Endocrinol Invest 25:RC4-6. 2002..The association of different phenotypes with substitutions affecting the same codon is another contribution confirming that RTH phenotype does not generally depend upon the site of the mutation in the LBD of TRbeta1... - Multigenerational familial medullary thyroid cancer (FMTC): evidence for FMTC phenocopies and association with papillary thyroid cancerL Fugazzola
Istituto Clinico Humanitas and Ospedale Maggiore IRCCS, Milan, Italy
Clin Endocrinol (Oxf) 56:53-63. 2002..Though FMTC phenocopies are likely to represent an exceptional finding, such a possibility should be taken into account in the genetic counselling for MEN 2 syndromes... - Medullary and papillary carcinoma of the thyroid gland occurring as a collision tumour: report of three cases with molecular analysis and review of the literatureS Rossi
Pathology Unit, Department of Medicine, Surgery and Dentistry, Ospedale S Paolo and Ospedale Maggiore IRCCS, University of Milan School of Medicine, Milan, Italy
Endocr Relat Cancer 12:281-9. 2005..This is the first report in which two mutations, in the RET and BRAF genes, have been identified in three cases of MTC/PTC collision tumour, thus documenting the different genetic origin of these two coexisting carcinomas... - Absence of primary hypothyroidism and goiter in Slc26a4 (-/-) mice fed on a low iodine dietD Calebiro
Department of Medical Sciences, University of Milan, Milan, Italy
J Endocrinol Invest 34:593-8. 2011..Since pendrin can transport iodide in vitro, variations in iodide supply have been claimed to account for the thyroid phenotype associated with pendrin defects... - The role of pendrin in iodide regulationL Fugazzola
Istituto Clinico Humanitas, Milan, Italy
Exp Clin Endocrinol Diabetes 109:18-22. 2001.... - The widened use of exogenous stimulation with recombinant human TSH to treat metastatic thyroid carcinoma in ItalyL Maffioli
Operative Unit of Nuclear Medicine, A O Civile di Legnano, Legnano, Milan, Italy
Q J Nucl Med Mol Imaging 56:476-84. 2012.... - Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitroMarina Muzza
Dipartimento di Scienze Mediche, Universita degli Studi di Milano, 20122 Milan, Italy
Eur J Endocrinol 162:771-7. 2010..A510V, p.E511K and p.C531R) coded by exon 8 and in the intracellular juxtamembrane region (p.K666N) coded by exon 11, were identified on the leukocyte DNA from apparently sporadic cases... - Fetal cell microchimerism in papillary thyroid cancer: studies in peripheral blood and tissuesValentina Cirello
Department of Medical Sciences, University of Milan and Endocrine Unit, Fondazione Policlinico IRCCS, Via F Sforza 35, Milan, Italy
Int J Cancer 126:2874-8. 2010.... - An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinomaDaniela Cordella
Istituto Auxologico Italiano, 20095 Cusano, Milan, Italy
Endocr Relat Cancer 13:945-53. 2006..Functional analyses showed that alterations at this level too can lead to a ligand independent Ret activation... - Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studiesLaura Fugazzola
Institute of Endocrine Sciences, University of Milan, Italy
Pediatr Res 51:479-84. 2002..The pseudo-Pendred phenotype exhibited by the family without PDS mutations is likely caused by an autoimmune thyroid disease associated with a sensorineural hearing loss of different origin... - Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacementLaura Fugazzola
Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS, Italy
Clin Endocrinol (Oxf) 59:230-6. 2003..The rhTSH testing led to the desired disease characterization, thus allowing specific management and targeted genetic analyses... - Molecular and biochemical analysis of RET/PTC4, a novel oncogenic rearrangement between RET and ELE1 genes, in a post-Chernobyl papillary thyroid cancerL Fugazzola
Division of Experimental Onocology A, Istituto Nazionale Tumori, Milan, Italy
Oncogene 13:1093-7. 1996..Alternatively, targeted radiation effects could be responsible for the atypical RET rearrangement producing RET/PTC4 oncogene... - BRAF mutations in an Italian cohort of thyroid cancersLaura Fugazzola
Institute of Endocrine Sciences, University of Milan, Milan, Italy
Clin Endocrinol (Oxf) 61:239-43. 2004.... - Total iodide organification defect: clinical and molecular characterization of an Italian familyLaura Fugazzola
Institute of Endocrine Sciences, University of Milan, Milan, Italy
Thyroid 15:1085-8. 2005..Therefore, extensive analyses of TPO gene and 2p25 locus are needed in the frequent TIOD cases in whom conventional investigations disclosed only one mutant allele... - Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndromeSilvia Dossena
Department of Biomolecular Sciences and Biotechnology, , Italy
Cell Physiol Biochem 17:245-56. 2006..CONCLUSIONS: The functional characteristics of SLC26A4(S28R) we describe here, are consistent with the clinical phenotype observed in the patient from which the mutant was derived... - Increased risk for non-autoimmune hypothyroidism in young patients with congenital heart defectsE Passeri
Endocrinology and Diabetology Unit, Dipartimento di Scienze Medico Chirurgiche, Universita degli Studi di Milano, Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Donato, 20097 San Donato Milanese, Italy
J Clin Endocrinol Metab 96:E1115-9. 2011..Newborns with congenital hypothyroidism (CH) have an increased risk for congenital heart defects (CHD) due to a common embryonic developmental program between thyroid gland and heart and great vessels... - Different responses to chronic somatostatin analogues in patients with central hyperthyroidismDeborah Mannavola
Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS and Istituto Auxologico Italiano IRCCS, Milan, Italy
Clin Endocrinol (Oxf) 62:176-81. 2005..Furthermore, the present findings exclude the possibility of a beneficial effect of chronic administration of somatostatin analogues in controlling thyrotoxic symptoms in PRTH patients... - TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literatureDeborah Mannavola
Institute of Endocrine Sciences, University of Milan, Pad. Granelli Via F. Sforza, 35, Milan, 20122, Italy
J Mol Med 84:864-71. 2006..The first mutation lies at the 5' donor splice site of exon 0 and probably alters the start of translation, while the second is a single nucleotide deletion and leads to a premature stop codon... - A novel tyrosine-kinase selective inhibitor, sunitinib, induces transient hypothyroidism by blocking iodine uptakeDeborah Mannavola
Department of Medical Sciences, University of Milan and Endocrine Unit, Fondazione Policlinico Istituto di Ricovero e Cura a Carattere Scientifico, 20122 Milan, Italy
J Clin Endocrinol Metab 92:3531-4. 2007..New York, NY) is a multitarget inhibitor of tyrosine kinases for the treatment of some human cancers. A myxedematous coma in a patient treated with sunitinib for a gastrointestinal stromal tumor was unexpectedly observed... - The expression of wild-type pendrin (SLC26A4) in human embryonic kidney (HEK 293 Phoenix) cells leads to the activation of cationic currentsSilvia Dossena
Department of Biomolecular Sciences and Biotechnology, Universita degli Studi di Milano, Via Celoria 26, I 20133 Milan, Italy
Eur J Endocrinol 153:693-9. 2005..An open question is still whether the SLC26A4-induced ion exchange mechanism is electrogenic or electroneutral. Recently, it has been shown that human pendrin expressed in monkey cells leads to chloride currents... - Radioiodine treatment of non-toxic multinodular goitre: effects of combination with lithiumGuia Vannucchi
Institute of Endocrine Sciences, Ospedale Maggiore IRCCS (Pad. Granelli, Via F. Sforza, 35, 20122 Milan, Italy
Eur J Nucl Med Mol Imaging 32:1081-8. 2005..5 MBq/ml of thyroid tissue), further supporting the view that radioiodine therapy represents a real alternative to surgery... - Highly sensitive serum thyroglobulin and circulating thyroglobulin mRNA evaluations in the management of patients with differentiated thyroid cancer in apparent remissionLaura Fugazzola
Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS, Via Franceses Sforza 35, Milan 20122, Italy
J Clin Endocrinol Metab 87:3201-8. 2002..In particular, a negative hs-basal Tg testing would indicate disease remission and the opportunity to lengthen the intervals between rhTSH stimulations and/or to shift patients to a less profound TSH suppression with L-T(4)... - Frequent association between MEN 2A and cutaneous lichen amyloidosisUberta Verga
University of Milan, Ospedale Maggiore IRCCS, Italy
Clin Endocrinol (Oxf) 59:156-61. 2003..The present data confirm that CLA is linked to codon 634 RET mutations and is a precocious marker of the disorder... - Histopathological and molecular studies in patients with goiter and hypercalcitoninemia: reactive or neoplastic C-cell hyperplasia?Uberta Verga
Endocrine Unit, Department of Medical Sciences, University of Milan and Fondazione Policlinico IRCCS, Milan, Italy
Endocr Relat Cancer 14:393-403. 2007..Thus, sCT levels >50 pg/ml indicate the presence of CCH with a possible preneoplastic potential, suggesting the opportunity to perform a prophylactic surgical treatment... - The tight relationship between papillary thyroid cancer, autoimmunity and inflammation: clinical and molecular studiesMarina Muzza
Department of Medical Sciences, University of Milan and Endocrine Unit, Fondazione Policlinico IRCCS, Milan
Clin Endocrinol (Oxf) 72:702-8. 2010.... - Clinical and molecular features of differentiated thyroid cancer diagnosed during pregnancyGuia Vannucchi
Department of Medical Sciences, University of Milan, Fondazione Policlinico IRCCS, Milan, Italy
Eur J Endocrinol 162:145-51. 2010..In particular, differentiated thyroid cancer (DTC) represents the second most frequent tumor among those diagnosed during pregnancy. However, few and discordant data are available about the impact of pregnancy on tumor outcome... 
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidismIlaria Zamproni
Laboratory of Pediatric Endocrinology, San Raffaele Scientific Institute, Vita Salute San Raffaele University, Milan, Italy
J Clin Endocrinol Metab 93:605-10. 2008..DUOX2 deficiency produces congenital hypothyroidism (CH) in humans and mice. We recently cloned a novel gene, the product of which (dual oxidase maturation factor 2; DUOXA2) is required to express DUOX2 enzymatic activity...- Outcome predictors and impact of central node dissection and radiometabolic treatments in papillary thyroid cancers < or =2 cmMichela Perrino
Department of Medical Sciences, University of Milan, Milan, Italy
Endocr Relat Cancer 16:201-10. 2009..The major impact of prophylactic CLND on prognosis suggests to routinely associate it to total thyroidectomy in cases with a preoperative diagnosis of malignancy... - Induction of a proinflammatory program in normal human thyrocytes by the RET/PTC1 oncogeneMaria Grazia Borrello
Departments of Experimental Oncology, Research Units 3 and 14, and Pathology, Istituto Nazionale Tumori, 20133 Milan, Italy
Proc Natl Acad Sci U S A 102:14825-30. 2005..These results, demonstrating that the RET/PTC1 oncogene activates a proinflammatory program, provide a direct link between a transforming human oncogene, inflammation, and malignant behavior... - Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activitySilvia Dossena
Department of Biomolecular Sciences and Biotechnology,
Cell Physiol Biochem 18:67-74. 2006.... - Fetal cell microchimerism in papillary thyroid cancer: a possible role in tumor damage and tissue repairValentina Cirello
Department of Medical Sciences and Endocrine Unit, University of Milan, Milan Italy
Cancer Res 68:8482-8. 2008..Although a pathogenetic mechanism cannot be excluded, the whole of the present results indicates a protective role of microchimerism in thyroid cancer...