Research Topics
Genomes and Genes
Species | Betti GiustiSummaryAffiliation: University of Florence Country: Italy Publications
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Detail Information
Publications
Gene expression profile of rat left ventricles reveals persisting changes following chronic mild exercise protocol: implications for cardioprotectionBetti Giusti
Department of Medical and Surgical Critical Care and Center of Research, Transfer and High Education, DENOthe, University of Florence, Florence, Italy
BMC Genomics 10:342. 2009..Cardioprotection was investigated by ischemia/reperfusion experiments (n = 10 trained vs. n = 10 control rats)...
Relation of CYP2C19 loss-of-function polymorphism to the occurrence of stent thrombosisBetti Giusti
University of Florence and SOD Atherothrombotic Diseases, Department of Medical and Surgical Critical Care, AOU Careggi, Viale Morgagni 85, 50134 Florence, Italy
Expert Opin Drug Metab Toxicol 6:393-407. 2010..Recently, CYP2C19*2 polymorphism (G681A nucleotide substitution) has been shown to be associated with decreased metabolisation of clopidogrel, poor antiaggregant effect and increased adverse cardiovascular events...
Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolismBetti Giusti
Department of Medical and Surgical Critical Care, University of Florence, Viale Morgagni 85, 50134 Florence, Italy
Thromb Haemost 104:231-42. 2010..This study identifies significant genetic associations between premature ischaemic stroke and haplotypes in BHMT, CBS, FOLH1, MTR, PON2, TCN2 and TYMS genes involved in methionine metabolism...
High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolismBetti Giusti
Department of Medical and Surgical Critical Care, University of Florence, Viale Morgagni 85, 50134, Florence, Italy
Biochem Genet 46:406-23. 2008..2% concordance. We also performed a haplotype analysis. This approach could represent a useful tool to investigate the genotype-phenotype correlation and the association of these genes with hyperhomocysteinemia and correlated diseases...
Gene expression profiling of peripheral blood in patients with abdominal aortic aneurysmB Giusti
Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy
Eur J Vasc Endovasc Surg 38:104-12. 2009..Abdominal aortic aneurysm (AAA) pathogenesis remains poorly understood. This study investigated the gene expression profile of peripheral blood from patients with AAA using microarray technology...
Role of glycoprotein Ia gene polymorphisms in determining platelet function in myocardial infarction patients undergoing percutaneous coronary intervention on dual antiplatelet treatmentBetti Giusti
Department of Medical and Surgical Critical Care and Center of Research, Transfer and High Education, DENOthe, University of Florence, Viale Morgagni 85, 50134 Florence, Italy
Atherosclerosis 196:341-8. 2008....
Cytochrome P450 2C19 loss-of-function polymorphism, but not CYP3A4 IVS10 + 12G/A and P2Y12 T744C polymorphisms, is associated with response variability to dual antiplatelet treatment in high-risk vascular patientsBetti Giusti
Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy
Pharmacogenet Genomics 17:1057-64. 2007....
Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS gene polymorphisms in atrial fibrillation susceptibilityBetti Giusti
Department of Medical and Surgical Critical Care and Center of Research, Transfer and High Education, DENOthe, University of Florence, Florence, Italy
PLoS ONE 2:e495. 2007..METHODOLOGIES: 456 NVAF patients and 912 matched controls were genotyped by an electronic microchip technology for C677T and A1298C MTHFR, A2756G MTR, and -786C/T eNOS gene polymorphisms. Hcy was determined by an immunoassay method...
Relation of cytochrome P450 2C19 loss-of-function polymorphism to occurrence of drug-eluting coronary stent thrombosisBetti Giusti
Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy
Am J Cardiol 103:806-11. 2009..These findings could impact on the future design of pharmacogenetic antiaggregant strategies...
High on-treatment platelet reactivity by more than one agonist predicts 12-month follow-up cardiovascular death and non-fatal myocardial infarction in acute coronary syndrome patients receiving coronary stentingRossella Marcucci
Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy
Thromb Haemost 104:279-86. 2010..Isolated platelet hyperreactivity to only one agonist has not a predictive value for clinical recurrences...
High on-treatment platelet reactivity by ADP and increased risk of MACE in good clopidogrel metabolizersRossella Marcucci
Department of Medical and Surgical Critical Care, Centre for the Study at Molecular and Clinical Level of Chronic, Degenerative and Neoplastic Diseases to Develop Novel Therapies, University of Florence, Viale Morgagni 85, Florence, Italy
Platelets 23:586-93. 2012..Therefore, both phenotype and genotype are clinically relevant for the evaluation of the antiplatelet effect of clopidogrel and for the prognostic stratification of ACS patients...
Thrombotic events in high risk patients are predicted by evaluating different pathways of platelet functionAnna Maria Gori
Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy
Thromb Haemost 100:1136-45. 2008..This prospective study documents that the evaluation of platelet reactivity addressed to identify patients at risk of thrombotic events on dual antiplatelet treatment has to be carried out by methods able to explore different pathways...
A model of anti-angiogenesis: differential transcriptosome profiling of microvascular endothelial cells from diffuse systemic sclerosis patientsBetti Giusti
Department of Medical and Surgical Critical Care DENOTHE, University of Florence, Florence, Italy
Arthritis Res Ther 8:R115. 2006..These observations indicate that microvascular endothelial cells of patients with SSc show abnormalities in a variety of genes that are able to account for defective angiogenesis...
Comparison of methods for monitoring residual platelet reactivity after clopidogrel by point-of-care tests on whole blood in high-risk patientsRita Paniccia
Department of Medical and Surgical Critical Care, Thrombosis Center, University of Florence, Florence, Italy
Thromb Haemost 104:287-92. 2010..MEA might represent a reliable method and valid alternative in comparison with other available platelet function assays. It might help to guide antiplatelet therapy and thus improve clinical outcome of high-risk CAD patients...
Polymorphisms of genes involved in extracellular matrix remodeling and abdominal aortic aneurysmClaudia Saracini
Department of Medical and Surgical Critical Care, University of Florence, Atherothrombotic Diseases Center, Florence, Italy
J Vasc Surg 55:171-179.e2. 2012..Abdominal aortic aneurysm (AAA) has a multifactorial etiology and the relevance of genetic factors is getting increasing interest, in particular those related to the destructive remodeling of extracellular matrix...
High residual platelet reactivity after clopidogrel loading and long-term cardiovascular events among patients with acute coronary syndromes undergoing PCIGuido Parodi
Department of Cardiology, Careggi Hospital, Florence, Italy
JAMA 306:1215-23. 2011..High residual platelet reactivity (HRPR) in patients receiving clopidogrel has been associated with high risk of ischemic events after percutaneous coronary intervention (PCI)...
eNOS gene influences platelet phenotype in acute coronary syndrome patients on dual antiplatelet treatmentCinzia Fatini
Department of Medical and Surgical Critical Care, Department of Heart and Vessels, Azienda Ospedaliero Universitaria Careggi, University of Florence, 50134 Florence, Italy
Platelets 20:548-54. 2009..02). This study evidences a role for eNOS gene in moderately, but significantly, modulating platelet phenotype in a high-risk population on dual antiplatelet treatment...
Hyperhomocysteinemia and vitamin B6 deficiency: new risk markers for nonvalvular atrial fibrillation?Rossella Marcucci
Department of Medical and Surgical Critical Care, University of Florence, Florence Italy
Am Heart J 148:456-61. 2004..Furthermore, the role of these variables in the occurrence of ischemic events was investigated...
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophyGuglielmina Pepe
Department of Medical and Surgical Critical Care and Center for the Study of Molecular and Clinical Level of Chronic, Degenerative, and Neoplastic Diseases to Develop Novel Therapies, University of Florence, Florence, Italy
Ann Neurol 59:190-5. 2006..Our studies identify a deletion-prone region in COL6A1 and suggest that similar mutations can lead to congenital muscle disorders of different clinical severity...
Clopidogrel non-responsiveness and risk of cardiovascular morbidity. An updated meta-analysisFrancesco Sofi
Department of Medical and Surgical Critical Care, Thrombosis Centre, University of Florence, Azienda Ospedaliero Universitaria Careggi, Florence, Italy
Thromb Haemost 103:841-8. 2010....
Genetic determinants of fasting and post-methionine hyperhomocysteinemia in patients with retinal vein occlusionRossella Marcucci
Dipartimento di Area Critica Medico Chirurgica, Sez di Clinica Medica Generale e Cliniche Specialistiche, University of Florence, Viale Morgagni, 85, 50134 Florence, Italy
Thromb Res 110:7-12. 2003..Moreover, scarce information is available on the usefulness of measuring homocysteine also after methionine loading to increase the diagnostic efficacy of hyperhomocysteinemia in RVO patients...
Cardiovascular death and nonfatal myocardial infarction in acute coronary syndrome patients receiving coronary stenting are predicted by residual platelet reactivity to ADP detected by a point-of-care assay: a 12-month follow-upRossella Marcucci
Department of Medical and Surgical Critical Care and Center for Study at Molecular and Clinical Level of Chronic, Degenerative and Neoplastic Diseases to Develop Novel Therapies, University of Florence, Florence, Italy
Circulation 119:237-42. 2009....
Phenotypic variability of cardiovascular manifestations in Marfan Syndrome. Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphismBetti Giusti
Dipartimento di Area Critica Medico Chirurgica, University of Florence, Florence, Italy
Eur Heart J 24:2038-45. 2003....
Hepatitis C virus RNA localization in human carotid plaquesMaria Boddi
Clinica Medica Generale e Cardiologia, Department of Medical and Surgical Critical Care, University of Florence, Italy
J Clin Virol 47:72-5. 2010..Hepatitis C virus (HCV) infection has certain characteristics that enable it to play an important role in atherosclerosis. Some studies report its association with an increased risk of carotid artery plaque...
Fish intake and LPA 93C>T polymorphism: gene-environment interaction in modulating lipoprotein (a) concentrationsFrancesco Sofi
Department of Medical and Surgical Critical Care, Thrombosis Centre, University of Florence, Italy
Atherosclerosis 195:e147-54. 2007..In conclusion, this study reported a significant interaction of daily fish intake and LPA 93C>T polymorphism in decreasing Lp(a) concentrations...
Pharmacogenetics of clopidogrel: comparison between a standard and a rapid genetic testingClaudia Saracini
Department of Medical and Surgical Critical Care, University of Florence Atherothrombotic Diseases Center, AOU Careggi, Florence, Italy
Genet Test Mol Biomarkers 16:500-3. 2012..One hundred acute coronary syndrome patients were genotyped for CYP2C19*2,*3,*4,*5, and *17 polymorphisms with two platforms: Verigene(®) and the TaqMan(®) system...
Improvement of low-density microelectronic array technology to characterize 14 mutations/single-nucleotide polymorphisms from several human genes on a large scaleSabrina Frusconi
Unita' Operativa Citogenetica e Genetica, Azienda Ospedaliera Careggi, Florence, Italy
Clin Chem 50:775-7. 2004
Increased plasma levels of lipoprotein(a) and the risk of idiopathic and recurrent venous thromboembolismRossella Marcucci
Dipartimento Area Critica Medico-Chirurgica, Clinica Medica Generale e Cardiologia, Florence, Italy
Am J Med 115:601-5. 2003..CONCLUSION: These results show that Lp(a) is an independent risk factor for venous thromboembolism in adults, suggesting that it may be involved in the pathogenesis of idiopathic and recurrent disease...
Bone marrow-derived progenitor cells in the early phase of ischemic stroke: relation with stroke severity and discharge outcomeFrancesca Cesari
Department of Medical and Surgical Critical Care, Thrombosis Centre, University of Florence, Florence, Italy
J Cereb Blood Flow Metab 29:1983-90. 2009..We report an association between the number of CPCs measured in the early phase after stroke presentation, neurologic severity, and discharge outcome...
Improvement in ACE I/D polymorphism detectionPaola Bolli
Department of Medical and Surgical Critical Care and Center of Research, Transfer and High Education, DENOthe, University of Florence, Italy
J Renin Angiotensin Aldosterone Syst 12:129-32. 2011..Our experiments provide evidence that, by using the Nanogen stepdown method, the DD mistyping was markedly decreased, thus representing a useful tool suitable for performing large-scale screening or research...
Using a calibration experiment to assess gene-specific information: full Bayesian and empirical Bayesian models for two-channel microarray dataMarta Blangiardo
Department of Statistics G Parenti, University of Florence and Biostatistic Unit CSPO, Florence, Italy
Bioinformatics 22:50-7. 2006..In this case it is possible to estimate the gene-specific variance, to be incorporated in comparative experiments on the same tissue, cellular line or species...
The antiangiogenic tissue kallikrein pattern of endothelial cells in systemic sclerosisBetti Giusti
Department of Experimental Pathology and Oncology, University of Florence, Viale G M Morgagni 50, 50134 Florence, Italy
Arthritis Rheum 52:3618-28. 2005..CONCLUSION: Reduction of tissue kallikreins 9, 11, and 12 may be relevant to reduced angiogenesis in SSc patients...
Systemic sclerosis-endothelial cell antiangiogenic pentraxin 3 and matrix metalloprotease 12 control human breast cancer tumor vascularization and development in miceFrancesca Margheri
Department of Experimental Pathology and Oncology, University of Florence, 50134 Florence, Italy
Neoplasia 11:1106-15. 2009..The extent of tumor necrosis suggested an antiangiogenesis-dependent inhibition of tumor development...
Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-upGuglielmina Pepe
Department of Medical and Surgical Critical Care, University of Florence, Regional Marfan Centre, Florence, Centre of Research, Transfer, High Education DENOTHE, University of Florence, Italy
Mol Vis 13:2242-7. 2007..Ectopia lentis (EL) and Marfan syndrome (MFS) are considered two distinct clinical entities. We performed genetic and clinical studies to investigate whether EL is actually distinct from MFS or if it is a mild phenotypic expression of it...
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophyBetti Giusti
Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy
Ann Neurol 58:400-10. 2005....
High levels of homocysteine, lipoprotein (a) and plasminogen activator inhibitor-1 are present in patients with abdominal aortic aneurysmFrancesco Sofi
Department of Medical and Surgical Critical Care, Thrombosis Centre, University of Florence, Azienda Ospedaliero Universitaria Careggi, Florence, Italy
Thromb Haemost 94:1094-8. 2005..13; p = 0.005). In conclusion, a significant association between abnormal levels of some metabolic parameters related to thrombosis such as Hcy, Lp(a) and PAI-1 and AAA has been observed...
Determinants to optimize response to clopidogrel in acute coronary syndromeBetti Giusti
Department of Medical and Surgical Critical Care, University of Florence, SOD Atherothrombotic Diseases, AOU Careggi, Florence, Italy
Pharmgenomics Pers Med 3:33-50. 2010....
Association between homocysteine, vitamin B(6) concentrations and inflammationAnna Maria Gori
Department of Medical and Surgical Critical Care, University of Florence, DeNOTHE Centre for the Study at Molecular and Clinical Level of Chronic, University of Florence, Florence, Italy
Clin Chem Lab Med 45:1728-36. 2007..This association, independent of the leading factor, may explain, at least in part, why subjects with high concentrations of Hcy and low concentrations of vitamin B(6) have a high risk of developing cardiovascular diseases...
Genetic polymorphisms of antioxidant enzymes in preterm infantsChiara Poggi
Department of Medical and Surgical Critical Care, Neonatology Section, Careggi University Hospital, Florence, Italy
J Matern Fetal Neonatal Med 25:131-4. 2012..Evidence is growing about the associations between single nucleotide polymorphisms (SNPs) in genes involved in OS or antioxidant response and the occurrence of neonatal morbidities...
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophyLaura Lucarini
Department of Medical and Surgical Critical Care and Center of Research, Transfer and High Education, MCIDNENT, University of Florence, Viale Morgagni 85, 50134 Florence, Italy
Hum Genet 117:460-6. 2005..Our results underscore the importance of multifaceted analyses in the accurate molecular diagnosis and interpretation of genotype-phenotype correlations of UCMD...
Bone marrow-derived progenitor cells in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyFrancesca Pescini
Department of Neurological and Psychiatric Sciences, Thrombosis Center, University of Florence, Florence, Italy
Stroke 41:218-23. 2010..No data are available about these cells in CADASIL. Our objective in this study was to evaluate endothelial progenitor cells and CPCs role in CADASIL...
HCV infection facilitates asymptomatic carotid atherosclerosis: preliminary report of HCV RNA localization in human carotid plaquesMaria Boddi
Clinica Medica Generale e Cardiologia, Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy
Dig Liver Dis 39:S55-60. 2007..We aimed to investigate whether (a) HCV infection can facilitate asymptomatic carotid lesions and (b) the presence of HCV RNA sequences can be shown in plaque tissues...
Atrial septal defect closure and de novo migraine: Exclusive ticlopidine efficacySilvia Benemei
Department of Preclinical and Clinical Pharmacology, Headache Centre, University of Florence and Careggi University Hospital, Viale Pieraccini 6, Florence, Italy
Cephalalgia 32:1144-6. 2012....
Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infantsBetti Giusti
Department of Medical and Surgical Critical Care, University of Florence, Atherothrombotic Diseases Centre, Careggi University Hospital of Florence, Florence, Italy
Free Radic Res 46:1130-9. 2012..Different SOD2 polymorphisms are associated per se with a lower gestational age and/or birth weight, and haplotypes of SOD1, SOD3 and CAT genes may be independent protecting or risk markers for prematurity complications...
Evaluation of a new point-of-care celite-activated clotting time analyzer in different clinical settings. The i-STAT celite-activated clotting time testRita Paniccia
Dipartimento di Area Critica Medico Chirurgica, Sezione di Clinica Medica Generale e Cliniche Specialistiche, Centro di Riferimento Regionale per la Trombosi, Florence, Italy
Anesthesiology 99:54-9. 2003..Recently, a new device, the i-STAT system, has been introduced to measure ACT. The aim of this study was to correlate the performances of these two systems and to compare ACT values with heparin levels...
Antiplatelets in acute coronary syndrome: personal perspectivesRossella Marcucci
Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy
Expert Rev Cardiovasc Ther 10:1487-96. 2012....
Plasma and serum levels of D-dimer and their correlations with other hemostatic parameters in pregnancyRita Paniccia
Dipartimento di Area Critica Medico Chirurgica, Sezione di Clinica Medica Generale e Cliniche Specialistiche, University of Florence, Viale Morgagni, 85, 50134, Italy
Thromb Res 105:257-62. 2002....
LPA +93C>T and +121G>A polymorphisms detection by electronic microchip technologyElena Sticchi
Fondazione Don Carlo Gnocchi, ONLUS, S Maria degli Ulivi IRCCS, Firenze, Italy
Mol Genet Metab 91:79-84. 2007..In particular, this Technology allows the analysis of polymorphisms at the LPA locus, able to modulate the levels of Lp(a), a relevant marker of atherosclerosis...
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathyOlga Camacho Vanegas
Department of Internal Medicine, University of Rome Tor Vergata, Via Tor Vergata 135, 00133 Roma, Italy
Muscle Nerve 25:513-9. 2002..In addition, we demonstrated that lymphocytes can be used for the first mutation screening analysis of patients with Bethlem myopathy...
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysisStefania Petrini
Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesù Paediatric Hospital IRCCS, Piazza S Onofrio 4, 00165 Rome, Italy
Neuromuscul Disord 17:587-96. 2007..We describe how confocal microscopy and rotary-shadowing electron microscopy may be useful to identify a secondary ColVI defect...
Use of donor bone marrow mesenchymal stem cells for treatment of skin allograft rejection in a preclinical rat modelPaolo Sbano
Department of Clinical Medicine and Immunological Sciences, Section of Dermatology, University of Siena, Siena, Italy
Arch Dermatol Res 300:115-24. 2008..Results of our study in a rat tissue transplantation model demonstrated a possible immunogenic role for donor (allogeneic) MSC, confirming the need of adequate preclinical experimentation before clinical use...
