Research Topics
Genomes and GenesSpecies | Antonietta AmedeiSummaryAffiliation: University of Florence Country: Italy Publications
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Detail Information
Publications
Genetic markers of osteoarticular disorders: facts and hopesM L Brandi
Department of Medicine, University of Florence, Viale Morgagni 85, 50135 Florence, Italy
Arthritis Res 3:270-80. 2001....
Can fibroblast growth factor (FGF)-23 circulating levels suggest coronary artery abnormalities in children with Kawasaki disease?Laura Masi
Department of Internal Medicine, University of Florence, Italy
Clin Exp Rheumatol 31:149-53. 2013..The aim of our study was to test the hypothesis that circulating serum levels of FGF23 might be related to the occurrence of coronary artery abnormalities (CAA) in children with KD...
Age-specific effects of estrogen receptors' polymorphisms on the bone traits in healthy fertile women: the BONTURNO studyFrancesco Massart
Department of Internal Medicine, University of Florence, Florence, Italy
Reprod Biol Endocrinol 7:32. 2009..Common variants in the genes encoding for estrogen receptor alpha (ESR1) and beta (ESR2) are proposed as candidates for influencing bone phenotypes at the population level...
A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosisL Masi
Department of Internal Medicine, University Hospital of Florence, Florence, Italy
J Bone Joint Surg Am 91:1190-8. 2009..Mutational analysis is important for the early recognition of the disorder, for prevention of its complications, and for family screening strategies. We examined two unrelated white patients affected by tumoral calcinosis...
Molecular, biochemical and cellular biology of PTH anabolic actionL Masi
Department of Internal Medicine, University of Florence, Florence, Italy
J Endocrinol Invest 28:37-40. 2005..PTH (1-34) is currently being safely and effectively used in osteoporosis, and together with novel PTH derivates agent provides more tools for the clinicians in their armamentarium for the fight against osteoporosis...
FokI polymorphism of the vitamin D receptor gene correlates with parameters of bone mass and turnover in a female population of the Italian island of LampedusaA Falchetti
Department of Internal Medicine, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
Calcif Tissue Int 80:15-20. 2007..Our data suggest that FokI VDR polymorphism may contribute to the determination of bone mass and turnover in both pre- and postmenopausal women in this geographically isolated population...
Polymorphism of the aromatase gene in postmenopausal Italian women: distribution and correlation with bone mass and fracture riskL Masi
Department of Clinical Physiopathology, University of Florence, Italy
J Clin Endocrinol Metab 86:2263-9. 2001..1 (95% confidence interval, 1.19-13.87). In conclusion, the aromatase gene can be one of the several genes potentially involved in the maintenance of bone mass and in the regulation of bone mass loss...
Relationship of volumetric bone mineral density and structural parameters with ERalpha gene polymorphismsC Cepollaro
Department of Internal Medicine, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy
Calcif Tissue Int 80:307-15. 2007..These results show a relationship between the presence of the P allele and higher values of CtTh in male subjects, indicating for ERalpha a role in the control of tibial bone geometry...
Genetics and pharmacogenetics of osteoporosisS Carbonell Sala
Department of Internal Medicine, University of Florence, and DEGENE Srl, Florence, Italy
J Endocrinol Invest 28:2-7. 2005..Genetic polymorphisms are also starting to be used to predict drug response. A new era of pharmacogenetics represents an interesting prospective to identify the potential individuals to receive customised treatments...
Genetic aspects of the Paget's disease of bone: concerns on the introduction of DNA-based tests in the clinical practice. Advantages and disadvantages of its applicationAlberto Falchetti
Regional Center for Hereditary Endocrine Tumors, Unit of Metabolic Bone Diseases, AOUC, Department of Internal Medicine, University of Florence, Florence, Italy
Eur J Clin Invest 40:655-67. 2010....
Genetics of osteoporosis: role of steroid hormone receptor gene polymorphismsL Gennari
Department of Internal Medicine, University of Florence, Viale Pieraccini 6, 50135 Florence, Italy
J Steroid Biochem Mol Biol 81:1-24. 2002....
A patient with MEN1-associated hyperparathyroidism, responsive to cinacalcetAlberto Falchetti
University Hospital of Careggi, Florence, Italy
Nat Clin Pract Endocrinol Metab 4:351-7. 2008..MEN1 was confirmed by analysis of the MEN1 gene, which revealed a 1555insG frameshift mutation. In 2006 serum calcium and parathyroid hormone (PTH) levels were again found to be high...
Microencapsulation of human parathyroid cells: an "in vitro" studyL Picariello
Surgery Unit, Department of Clinical Physiopathology, University of Florence, 50139 Florence, Italy
J Surg Res 96:81-9. 2001..CONCLUSIONS: These findings represent a crucial step toward the construction of functional bioartificial parathyroid organoids for the treatment of hypoparathyroidism in humans...
Bone mineral density in cystic fibrosis patients under the age of 18 yearsA S Neri
Cystic Fibrosis Center of Tuscany, Meyer Hospital, Florence, Italy
Minerva Pediatr 60:147-54. 2008..The increase in life expectancy of cystic fibrosis (CF) patients has brought about a rise in new clinical problems in these patients, such as a decrease in bone mineral density (BMD). The cause of diminished BMD in CF is multi-factorial...
TGF-beta isoform and receptor expression in giant cell tumor and giant cell lesions of boneA Franchi
Department of Human Pathology and Oncology, University of Florence Medical School, Italy
Appl Immunohistochem Mol Morphol 9:170-5. 2001....
Construction of a database for the evaluation and the clinical management of patients with breast cancer treated with antiestrogens and/or aromatase inhibitorsFrancesca Giusti
SOD Malattie del Metabolismo Minerale ed Osseo, AOU Careggi, Florence, Italy
Clin Cases Miner Bone Metab 8:37-50. 2011....
Physiopathological basis of bone turnoverL Masi
Department of Clinical Physiopathology, University of Florence, Italy
Q J Nucl Med 45:2-6. 2001..Understanding the sequence of cellular events may be important to better know the mechanisms responsible for bone loss that occurs in age and in several pathological conditions...
Dynamic investigation for evaluation of calcium metabolism and parathyroid functionF Cioppi
Department of Internal Medicine, University of Florence, Florence, Italy
J Endocrinol Invest 26:83-91. 2003..Only in selected conditions, here briefly reviewed, dynamic tests can offer an interpretation on the pathogenetic events causing a disorder of calcium metabolism...
Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian familyAlberto Falchetti
Department of Internal Medicine, University of Florence, Florence, Italy
Arthritis Res Ther 7:R1289-95. 2005....
Allelic variants of human calcitonin receptor: distribution and association with bone mass in postmenopausal Italian womenL Masi
Department of Clinical Physiopathology, University of Florence, Italy
Biochem Biophys Res Commun 245:622-6. 1998..In addition, Duncan's test used to compare the genotypes showed that TT genotype has significant lower lumbar BMD in comparison with CC genotype...
