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Genomes and Genes | M L BrandiSummaryAffiliation: University of Florence Country: Italy Publications
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Publications
When the government actively faces the burden of osteoporosis: the Italian experienceMaria Luisa Brandi
Department of Internal Medicine, University of Florence, Florence, Italy
Arch Osteoporos 7:21-4. 2012..THE FUTURE OF OSTEOPOROSIS IN ITALY: We hope that the example of Italy would serve as an inspiration to those countries where the history of osteoporosis only recently began...
Drugs for bone healingMaria Luisa Brandi
University of Florence, Department of Surgery and Translational Medicine, Mineral and Bone Metabolic Diseases Unit, Largo Palagi, 1, 50100 Florence, Italy
Expert Opin Investig Drugs 21:1169-76. 2012..However, future clinical trials will offer the possibility to obtain data that will make possible the registration of a drug as a "healer."..
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...
Multiple endocrine neoplasia type 2Francesca Marini
Regional Center for Hereditary Endocrine Tumors, Department of Internal Medicine, University of Florence, Florence, Italy
Orphanet J Rare Dis 1:45. 2006..At present, surgical treatment offers the only chance of cure and therefore, early clinical and genetic detection and prophylactic surgery in subjects at risk are the main therapeutic goal...
Multiple endocrine neoplasia type 1Francesca Marini
Regional Center for Hereditary Endocrine Tumours, Department of Internal Medicine, University of Florence, Florence, Italy
Orphanet J Rare Dis 1:38. 2006....
The incidence of hip, forearm, humeral, ankle, and vertebral fragility fractures in Italy: results from a 3-year multicenter studyUmberto Tarantino
Division of Orthopaedics and Traumatology, Tor Vergata Foundation University Hospital, University of Rome, Tor Vergata, Viale Oxford 81, Rome, 00133, Italy
Arthritis Res Ther 12:R226. 2010..We aimed to assess the incidence and hospitalization rate of hip and "minor" fragility fractures in the Italian population...
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....
Management of post-menopausal osteoporosis: something new on the horizon?M L Brandi
Department of Internal Medicine, University of Florence, Florence, Italy
J Endocrinol Invest 26:170-3. 2003
Genetics of hypoparathyroidism and pseudohypoparathyroidismM L Brandi
Unit of Bone and Mineral Metabolism, Department of Internal Medicine, University of Florence, Medical School, Viale Pieraccini, 6 50139 Florence, Italy
J Endocrinol Invest 34:27-34. 2011..The present article reviews the various disorders related to both hypoparathyroid and pseudohypoparathyroid conditions, with a detailed report of the recent discoveries in term of the genetics of these syndromes...
Sustained vertebral antifracture efficacy of oral anti-osteoporotic therapies in postmenopausal osteoporosisM L Brandi
University of Florence Medical School, Florence, Italy
Curr Med Res Opin 26:2553-63. 2010..Vertebral fractures are common in women with postmenopausal osteoporosis, a chronic condition requiring long-term treatment with anti-osteoporotic treatments. Therefore, it is important to assess sustainability of antifracture efficacy...
Current treatment approaches for Paget's Disease of BoneMaria Luisa Brandi
Bone and Mineral Metabolic Unit, Department of Internal Medicine and Careggi Hospital, University of Florence, Florence, Italy
Discov Med 10:209-12. 2010..This article will focus on the present status and future pharmacological developments in PDB...
An overview of osteoporosis: from genetics to clinicsMaria Luisa Brandi
Endocrinology and Metabolic Disorders, Universita degli Studi di Firenze, and Metabolic Bone Disease Department, A O U Careggi, Firenze, Italy
Aging Clin Exp Res 23:3-5. 2011..In the future, pharmacogenomics will optimize therapy response by customization on the basis of genotype, improving efficacy, and limiting the onset of side effects...
Guidelines for diagnosis and therapy of MEN type 1 and type 2M L Brandi
Department of Internal Medicine, University of Florence, 50139 Florence, Italy
J Clin Endocrinol Metab 86:5658-71. 2001....
Genetics of primary hyperparathyroidismMaria Luisa Brandi
Department of Internal Medicine, University of Florence, Florence, Italy
Urol Int 72:11-6. 2004..Such mechanisms could, in the near future, become an ideal target for new therapeutic strategies of primary hyperparathyroidism...
What is the relationship between Paget's disease of bone and hyperparathyroidism?Maria Luisa Brandi
Department of Internal Medicine and DeGene Spin off, University of Florence, Florence, Italy
J Bone Miner Res 21:P69-74. 2006
Microarchitecture, the key to bone qualityMaria Luisa Brandi
Department of Internal Medicine, University of Florence, Florence, Italy
Rheumatology (Oxford) 48:iv3-8. 2009....
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...
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...
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...
Association of the estrogen receptor alpha gene polymorphisms with sporadic Alzheimer's diseaseM L Brandi
Department of Clinical Physiopathology, University of Florence, Florence, Italy
Biochem Biophys Res Commun 265:335-8. 1999..The ERalpha gene appears to interact with the APOE-epsilon4 genotype in determining AD susceptibility...
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....
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...
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...
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....
Effect of inhaled glucocorticoids and beta(2) agonists on vertebral fracture risk in COPD patients: the EOLO studyS Gonnelli
Department of Internal Medicine, Endocrine Metabolic Science, and Biochemistry, University of Siena, Policlinico Le Scotte, Viale Bracci 2, 53100 Siena, Italy
Calcif Tissue Int 87:137-43. 2010..28, and OR = 1.40, CI 1.06-1.82, respectively). In conclusion, in COPD patients high doses of inhaled GCs, but not beta(2) agonists, are associated with an increased risk of vertebral fractures and a reduction of QUS at the calcaneus...
Genotype distribution of estrogen receptor-alpha gene polymorphisms in Italian women with surgical uterine leiomyomasF Massart
University of Florence, Italy
Fertil Steril 75:567-70. 2001..To explore a possible association between estrogen receptor-alpha (ER-alpha) gene polymorphisms and development of uterine leiomyomas...
Binding and bioeffects of Ipriflavone on a human preosteoclastic cell lineS Benvenuti
Department of Clinical Physiopathology, University of Florence, School of Medicine, Italy
Biochem Biophys Res Commun 201:1084-9. 1994..These results demonstrate a direct effect of Ipriflavone and of Metabolite III on the human osteoclast precursor cell line FLG 29.1...
Ribozyme-mediated compensatory induction of menin-oncosuppressor function in primary fibroblasts from MEN1 patientsE Luzi
Department of Internal Medicine, Metabolic Bone Unit, Regional Center for Hereditary Endocrine Tumors, Azienda Ospedaliera Universitaria Careggi, Florence, Italy
Cancer Gene Ther 17:814-25. 2010..These findings contribute to the understanding of tumorigenesis in MEN1, offering the basis for the development of RNA-based therapies in MEN1 gene mutation carriers...
The importance of the unsuppressed glands in the study of intact parathyroid hormone disappearance after parathyroid adenomectomyF Locchi
Department of Clinical Physiopathology, State University, Firenze, Italy
Eur J Endocrinol 144:353-62. 2001..On the contrary, we believe, as do other researchers, that they are not totally suppressed...
Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumorsAlberto Falchetti
Regional Centre for Hereditary Endocrine Tumors, Unit of Metabolic Bone Diseases, Department of Internal Medicine, University of Florence, Florence, Italy
Genet Med 11:825-35. 2009..The ever increrasing combination of genetic and clinical tools will allow early detection of MEN1-associated neoplasms, potentially improving clinical outcomes and quality of life for both affected patients and their relatives...
Lessons from genes mutated in multiple endocrine neoplasia (MEN) syndromesA Falchetti
Department of Internal Medicine and Clinical Physiopathology, University of Florence, Florence, Italy
Ann Endocrinol (Paris) 66:195-205. 2005....
The genetic ascertainment of multiple endocrine neoplasia type 1 syndrome by ancient DNA analysisF Marini
Regional Center for Hereditary Endocrine Tumours, Department of Internal Medicine, University of Florence, Florence, Italy
J Endocrinol Invest 31:905-9. 2008....
A comparison of methods for the analysis of low abundance proteins in desmoid tumor cellsL Picariello
Department of Clinical Physiopathology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
Anal Biochem 354:205-12. 2006..The use of a specific and reliable assessment method becomes fundamental in the evaluation of the presence and modulation of proteins which are important but weakly expressed in these rare tumors...
Genetics of male osteoporosisL Gennari
Dept. of Clinical Physiopathology, University of Florence, Italy
Calcif Tissue Int 69:200-4. 2001..These observations remain to be confirmed by other independent studies. Other candidate genes, are still awaiting mapping and identification...
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...
2006 update on genetic determinants of osteoporosisS Carbonell Sala
Department of Internal Medicine, School of Medicine, University of Florence, 50139 Florence, Italy
J Endocrinol Invest 30:2-7. 2007..This paper pretends to give a panoramic on actual genetics of osteoporosis situation, taking into account the most important recent genetic studies in the field...
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...
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...
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....
New perspectives on the definition and the management of severe osteoporosis: the patient with two or more fragility fracturesR Nuti
Department of Internal Medicine, Endocrine Metabolic Sciences and Biochemistry, University of Siena, 53100 Siena, Italy
J Endocrinol Invest 32:783-8. 2009..This definition does not entirely reflect the spectrum of severity of the disease that provides a variable increase in fracture risk...
Catecholamines modulate growth and differentiation of human preosteoclastic cellsU Frediani
Department of Clinical Physiopathology, University of Florence, Italy
Osteoporos Int 6:14-21. 1996..1 cells. In differentiated FLG 29.1 cells only IL-6 release was induced by catecholamine treatment. These findings support a potential role for catecholamines in modulating osteoclast differentiation and mature osteoclast activity...
Pancreatectomy in multiple endocrine neoplasia type 1-related gastrinomas and pancreatic endocrine neoplasiasFrancesco Tonelli
Department of Clinical Physiopathology, University of Florence, Medical School, Florence, Italy
Ann Surg 244:61-70. 2006..The aim of this study was to evaluate the results of pancreatic resection in pancreatic endocrine neoplasias (PENs) in patients affected by multiple endocrine neoplasia type 1 (MEN1) syndrome...
Pharmacogenetics of osteoporosis: future perspectivesFrancesca Marini
Mineral and Bone Metabolism Unit, Department of Internal Medicine, University of Florence, Florence, Italy
Calcif Tissue Int 84:337-47. 2009..In this paper we review the most recent data on pharmacogenetics of osteoporosis, highlighting the presentations at the Second International Meeting on Pharmacogenetics of Osteoarticular Disorders held in Florence in April 2008...
Estrogen receptor expression in cutaneous melanoma: a real-time reverse transcriptase-polymerase chain reaction and immunohistochemical studyVincenzo de Giorgi
Department of Dermatology, University of Florence, Via della Pergola 60, 50121 Florence, Italy
Arch Dermatol 145:30-6. 2009..To evaluate estrogen receptor (ER) expression in human melanoma tissues and in the adjacent healthy skin with the aim of explaining whether the ERalpha:ERbeta expression ratio has a role in neoplastic progression...
Somatostatinoma: clinico-pathological features of three cases and literature reviewedGabriella Nesi
Department of Human Pathology and Oncology, University of Florence, Florence, Italy
J Gastroenterol Hepatol 23:521-6. 2008..A comparison between our three cases and those in the literature provides useful insights into the clinical management of these patients. Interestingly, the jejunal somatostatinoma described here is the second case ever reported...
Is total parathyroidectomy the treatment of choice for hyperparathyroidism in multiple endocrine neoplasia type 1?Francesco Tonelli
Department of Clinical Physiopathology, University of Florence, Medical SchoolFlorence, Italy
Ann Surg 246:1075-82. 2007..The aim of the present report is to describe the results obtained with total parathyroidectomy (TPTX) guided by rapid intraoperative parathyroid hormone (PTH) evaluation, followed by immediate parathyroid autograft with fresh tissue...
Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of boneAlberto Falchetti
Department of Internal Medicine, University of Florence, Florence, Italy
Calcif Tissue Int 84:20-37. 2009..This may be helpful in estimating the true rate of de novo mutations. We confirm the data on the existence of both a mutational hotspot at the UBA domain of SQSTM1/p62 and a founder effect in the PDB population...
A polymorphic CYP19 TTTA repeat influences aromatase activity and estrogen levels in elderly men: effects on bone metabolismLuigi Gennari
Department of Internal Medicine, University of Florence, 50139 Florence, Italy
J Clin Endocrinol Metab 89:2803-10. 2004..In conclusion, differences in estrogen levels due to polymorphism at the aromatase CYP19 gene may predispose men to increased age-related bone loss and fracture risk...
Osteoprotegerin (OPG)/RANK-L system in juvenile idiopathic arthritis: is there a potential modulating role for OPG/RANK-L in bone injury?Laura Masi
Department of Internal Medicine, University of Florence, Florence, Italy
J Rheumatol 31:986-91. 2004....
Clodronate: mechanisms of action on bone remodelling and clinical use in osteometabolic disordersValentina Ghinoi
Department of Internal Medicine, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
Expert Opin Pharmacother 3:1643-56. 2002..However, studies that demonstrate an effect on the rate of fractures are needed before any recommendation can be made...
Osteoprotegerin serum levels in Kawasaki disease: an additional potential marker in predicting children with coronary artery involvementGabriele Simonini
Department of Paediatrics, Rheumatology Unit, University of Florence, Florence, Italy
J Rheumatol 32:2233-8. 2005..We evaluated serum levels of OPG in a group of children with Kawasaki disease (KD), before immunoglobulin (IVIG) infusion and at 3-month followup...
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...
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...
Multiple endocrine neoplasmsAlberto Falchetti
Surgery Unit, Department of Clinical Physiopathology, University of Florence, 6 50139 Florence, Italy
Best Pract Res Clin Rheumatol 22:149-63. 2008..If not diagnosed precociously, MTC can be fatal. MEN1 develops after tissue inactivation of both MEN1 gene copies. Activating mutations of c-RET proto-oncogene causes MEN2...
Serum osteopontin as a predictive marker of responsiveness to methotrexate in juvenile idiopathic arthritisLaura Masi
A Meyer Children s Hospital, University of Florence, Firenze, Italy
J Rheumatol 36:2308-13. 2009..To evaluate if serum concentrations of osteopontin (OPN) at baseline in patients with juvenile idiopathic arthritis (JIA) represent a potential predictor of responsiveness to methotrexate (MTX)...
Characterization of the functional and growth properties of long-term cell cultures established from a human somatostatinomaG Galli
Department of Internal Medicine, University of Florence Medical School, Viale Pieraccini 6, 50139 Florence, Italy
Endocr Relat Cancer 13:79-93. 2006..Based on these findings, the potential of SST analogues, IFN-gamma and AZT, alone or in combination, should be further explored in the medical treatment of somatostatinoma...
Surgery for gastroenteropancreatic tumours in multiple endocrine neoplasia type 1: review and personal experienceF Tonelli
Department of Clinical Physiopathology, University of Florence, Florence, Italy
J Intern Med 257:38-49. 2005..Endoscopic removal is possible for lesions growing in the mucosa-submucosa, but partial or even total gastrectomy is recommended for the small number of gastric carcinoids infiltrating the muscular layers...
Assessing 5-year incidence rates and determinants of osteoporotic fractures in primary careF Lapi
Department of Preclinical and Clinical Pharmacology, University of Florence, Italy
Bone 50:85-90. 2012..To assess the gender and age-related 5-year incidence rates of osteoporotic fractures, and their related predictors, in a primary care setting...
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...
Growth response of colon cancer cell lines to selective estrogen receptor modulatorsLucia Picariello
Department of Clinical Physiopathology, University of Florence, Florence, Italy
Anticancer Res 23:2419-24. 2003..CONCLUSION: Tamoxifen, and even more raloxifene, were effective in reducing HCT8 and HCT116 cell proliferation and viability, suggesting their potential application in the prevention and therapy of colorectal cancer...
Estrogen metabolism in human colorectal cancer cellsG Fiorelli
Department of Clinical Physiopathology, University of Florence, Florence, Italy
J Steroid Biochem Mol Biol 81:281-9. 2002..In conclusion, our results clearly show that metabolism of estrogens by 17betaHSD isoenzymes is functional and modulated by external stimuli in continuous neoplastic colonic epithelial cell lines...
Calcium modulates the cyclin D1 expression in a rat parathyroid cell lineS Bianchi
Department of Clinical Physiopathology, University of Florence, Italy
Biochem Biophys Res Commun 204:691-700. 1994..Increasing amounts of calcium in the incubation medium reduced the expression of rat cyclin D1 and D2. The effect appears to be cell-specific and probably mediated through the inhibition of mitogenic signalling pathways...
Paget's disease of bone: there's more than the affected skeletal--a clinical review and suggestions for the clinical practiceAlberto Falchetti
Regional Center for Hereditary Endocrine Tumors, Department of Internal Medicine, University of Florence, Florence, Italy
Curr Opin Rheumatol 22:410-23. 2010..A practical suggestion for an optimal management path of Paget's disease of bone is given...
Estrogen receptor alpha and beta polymorphisms: is there an association with bone mineral density, plasma lipids, and response to postmenopausal hormone therapy?Sandra Silvestri
Department of Internal Medicine, School of Medicine, University of Florence, Florence, Italy
Menopause 13:451-61. 2006..In another untreated subpopulation of 443 women, genotype influence on the prevalence of vertebral fractures and on annual rate of bone loss during a mean follow-up period of 11 years was estimated...
Modulatory effect of farnesyl pyrophosphate synthase (FDPS) rs2297480 polymorphism on the response to long-term amino-bisphosphonate treatment in postmenopausal osteoporosisFrancesca Marini
Department of Internal Medicine, University of Florence, Florence, Italy
Curr Med Res Opin 24:2609-15. 2008..Polymorphisms of genes encoding enzymes of the mevalonate pathway could modulate the response to amino-bisphosphonate treatment in postmenopausal osteoporosis...
In vitro effects of oestrogens, antioestrogens and SERMs on pancreatic solid pseudopapillary neoplasm-derived primary cell cultureIsabella Tognarini
Department of Internal Medicine, University of Florence Medical School, Florence, Italy
Cell Oncol 32:331-43. 2010..The controversial expression of oestrogen receptors (ERs) in SPNs, provide a rationale for studying the effects of oestrogenic molecules on SPN development...
Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case reportLaura Papi
Medical Genetics Unit, Department of Clinical Pathophysiology, University of Florence, Florence, Italy
Cancer Genet Cytogenet 195:75-9. 2009..We explore genetic and molecular rationales for an association between these neoplastic processes...
Association of low bone mass with vitamin d receptor gene and calcitonin receptor gene polymorphisms in juvenile idiopathic arthritisLaura Masi
Department of Pediatrics, University of Florence, Florence, Italy
J Rheumatol 29:2225-31. 2002..To compare bone density with polymorphisms in the calcitonin receptor (CTR) and vitamin D receptor (VDR) genes in 50 patients with juvenile idiopathic arthritis and 80 matched controls...
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...
Treatment of desmoids and mesenteric fibromatosis in familial adenomatous polyposis with raloxifeneFrancesco Tonelli
Department of Clinical Physiopathology, University of Florence, Italy
Tumori 89:391-6. 2003..These findings offer a novel option in the pharmacological treatment of desmoids, leading to medical therapy of these neoplastic lesions in familial adenomatous polyposis patients...
Azidothymidine induces apoptosis and inhibits cell growth and telomerase activity of human parathyroid cancer cells in cultureAlberto Falchetti
Department of Internal Medicine, University of Florence, Florence, Italy
J Bone Miner Res 20:410-8. 2005....
In vitro differentiation of human mesenchymal stem cells on Ti6Al4V surfacesIsabella Tognarini
Department of Internal Medicine, Medical School, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
Biomaterials 29:809-24. 2008..In conclusion, adipose tissue is a promising autologous source of osteoblastic cells with important clinical implications for bone tissue engineering...
Low adherence of a clinically healthy Italian population to nutritional recommendations for primary prevention of chronic diseasesFrancesco Sofi
Department of Medical and Surgical Critical Care, Thrombosis Centre, University of Florence, Azienda Ospedaliero Universitaria Careggi, Florence, Italy
Nutr Metab Cardiovasc Dis 16:436-44. 2006..The aims of this study were to evaluate dietary habits, and to assess the adherence of the general population to the recommendations for correct nutritional behaviour...
Selective oestrogen receptor modulators in desmoid tumoursLucia Picariello
Department of Clinical Physiopathology, University of Florence, Italy
Expert Opin Investig Drugs 13:1457-68. 2004..The knowledge of the molecular basis of SERM action will make the development of novel synthetic compounds with engineered tissue selectivity possible...
ERbeta is a potent inhibitor of cell proliferation in the HCT8 human colon cancer cell line through regulation of cell cycle componentsValentina Martineti
Department of Internal Medicine, School of Medicine, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
Endocr Relat Cancer 12:455-69. 2005..These findings are compatible with the hypothesis that the loss of ERbeta expression could be one of the events involved in the development or progression of colon cancer...
Papillary thyroid carcinomaCetta Francesco
Am J Surg Pathol 27:1176-7. 2003
Determinants of bone turnover markers in healthy premenopausal womenSilvano Adami
Rheumatology Unit, University of Verona, Ospedale di Valeggio, Valeggio, Verona, Italy
Calcif Tissue Int 82:341-7. 2008..New normative ranges for serum OC, CTX, and P1NP were identified; and our findings in general impose a redefinition of the criteria for establishing the normal ranges for BTMs...
Intravenous zoledronic acid in postmenopausal women with low bone mineral densityIan R Reid
Department of Medicine, University of Auckland, Auckland, New Zealand
N Engl J Med 346:653-61. 2002..Gastrointestinal intolerance limits maximal dosing. Although intermittent intravenous treatments have been used, the optimal doses and dosing interval have not been systematically explored...
Myostatin polymorphisms and age-related sarcopenia in the Italian populationAnna Maria Corsi
J Am Geriatr Soc 50:1463. 2002
Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patientsGiuseppe Vezzoli
Division of Nephrology Dialysis and Hypertension, Postgraduate School of Nephrology, Ateneo Vita e Salute, IRCCS San Raffaele Hospital, Milan, Italy
J Am Soc Nephrol 13:2517-23. 2002..Arg990Gly polymorphism could facilitate activation of CaSR and increase Ca excretion and susceptibility to idiopathic hypercalciuria...
Polymorphic analysis of the matrix metalloproteinase-9 gene and susceptibility to sporadic abdominal aortic aneurysmChiara Armani
Cardiac and Thoracic Department, University of Pisa, Via Paradisa 2, 56124 Pisa, Italy
Biomed Pharmacother 61:268-71. 2007..We compared the results with those of 156 healthy subjects. No difference was found in the allelic distribution of either polymorphisms. We therefore found no evidence that MMP-9 is a marker of susceptibility for AAA...
Evidence of sexual dimorphism in relationships between estrogen receptor polymorphisms and bone mass: the Hertfordshire studyElaine Dennison
MRC Epidemiology Resource Centre, University of Southampton, Southampton General Hospital, Southampton, England
J Rheumatol 32:2400-4. 2005..To examine the relationship between estrogen receptor (ER) a and ss gene polymorphisms and bone mass...
Estrogen receptor gene polymorphisms are associated with recurrence of endometriosisStefano Luisi
Department of Pediatrics, Gynecology and Reproductive Medicine, University of Siena, Siena, Italy
Fertil Steril 85:764-6. 2006....
Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS studyStuart H Ralston
Rheumatic Diseases Unit, University of Edinburgh, Western General Hospital Edinburgh, Edinburgh, United Kingdom
PLoS Med 3:e90. 2006....
Well-differentiated duodenal tumor/carcinoma (excluding gastrinomas)Robert T Jensen
Digestive Diseases Branch, NIDDK, NIH, Bethesda, MD, USA
Neuroendocrinology 84:165-72. 2006
Pharmacogenetics of bone treatments: the VDR and ERalpha gene storyFrancesco Massart
Department of Pediatrics, University of Pisa, Pisa, Italy
Pharmacogenomics 9:733-46. 2008..g., VDR or ERalpha). Because of their specific ethnic distribution, VDR and ERalpha polymorphisms may be involved in reported human differences of osteoporosis treatment responses...
Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density and fracture risk in women: a meta-analysisJohn P A Ioannidis
Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Greece
J Bone Miner Res 17:2048-60. 2002..In summary, we have found that XX homozygotes may have higher BMD and also a decreased risk of fractures when compared with carriers of the x allele, whereas the PvuII polymorphism is not associated with either BMD or fracture risk...
Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysmFrancesco Massart
Pediatric Endocrine Center, Department of Pediatrics, University of Pisa, Via Roma 67, 56125 Pisa, Italy
J Steroid Biochem Mol Biol 92:413-8. 2004..However, because possessing at least an ERbetaAluI restriction site was statistically associated to AAA onset (chi(2) = 5.220; OR = 1.82, P < 0.05), ERbeta polymorphism was proposed as genetic determinant in the AAA susceptibility...
Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomesJohn P A Ioannidis
Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina, Greece
JAMA 292:2105-14. 2004..Estrogen receptor alpha (ESR1) is a candidate gene for osteoporosis, but previous studies of ESR1 polymorphisms in this field were hampered by small sample size, lack of standardization, and inconclusive results...
Isolation and characterization of a new cell line from a renal carcinoma bone metastasisSofia Avnet
Laboratory for Pathophysiology of Orthopedic Implants, Istituti Ortopedici Rizzoli, Bologna, Italy
Anticancer Res 24:1705-11. 2004....
Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS studyBente L Langdahl
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
Bone 42:969-81. 2008....
Calcium bioavailability from a calcium-rich mineral water, with some observations on methodLucia Bacciottini
Department of Internal Medicine, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy
J Clin Gastroenterol 38:761-6. 2004..DISCUSSION: The calcium from the mineral water is thus highly bioavailable, at least as bioavailable as milk calcium, and ICP-MS appears to represent a reliable and reproducible method for calcium absorption from alimentary sources...
Clonal chromosomal defects in the molecular pathogenesis of refractory hyperparathyroidism of uremiaYasuo Imanishi
Center for Molecular Medicine, University of Connecticut Health Center, Farmington, Connecticut 06030-3101, USA
J Am Soc Nephrol 13:1490-8. 2002....
