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244 results on '"Pignatti, Pierfranco"'

1. Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency: An Italian collaborative study

Author

Ferrari, Maurizio, Antonelli, Mariano, Bellini, Fiorenza, Borgo, Graziella, Castiglione, Ornella, Curcio, Lauretta, Dallapiccola, Bruno, Devoto, Marcella, Estivill, Xavier, Gasparini, Paolo, Giunta, Annamaria, Marianelli, Lore, Mastella, Gianni, Novelli, Giuseppe, Pignatti, Pierfranco, Romano, Luca, Romeo, Giovanni, Seia, Manuela, and Williamson, Robert

Published
1990
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3. SNPs of the FADS Gene Cluster are Associated with Polyunsaturated Fatty Acids in a Cohort of Patients with Cardiovascular Disease

Author

Malerba, Giovanni, Schaeffer, L., Xumerle, Luciano, Cavallari, Ugo Antonio Aristide, Klopp, N., Galavotti, Roberta, Trabetti, Elisabetta, Martinelli, Nicola, Biscuola, M., Guarini, Patrizia, Cavallari, U., Girelli, Domenico, Galavotti, R., Olivieri, Oliviero, Martinelli, N., Corrocher, Roberto, Guarini, P., Pignatti, Pierfranco, Girelli, D., Olivieri, O., Corrocher, R., Heinrich, J., Pignatti, P. F., and Illig, T.

Subjects
Fatty Acid Desaturases, Male, medicine.medical_specialty, 030309 nutrition & dietetics, FADS1, FADS2, Single-nucleotide polymorphism, Biology, fatty acids, Linoleoyl-CoA Desaturase, Polymorphism, Single Nucleotide, Biochemistry, Cohort Studies, 03 medical and health sciences, chemistry.chemical_compound, Delta-5 Fatty Acid Desaturase, Internal medicine, medicine, Humans, Fatty acid metabolism, n-6/n-3 fatty acids, Fatty Acid Desaturase 1, Aged, 030304 developmental biology, chemistry.chemical_classification, Genetics, 0303 health sciences, Arachidonic Acid, Cell Membrane, Organic Chemistry, Haplotype, Cell Biology, Middle Aged, 3. Good health, Endocrinology, chemistry, Cardiovascular Diseases, Multigene Family, Fatty Acids, Unsaturated, Female, lipids (amino acids, peptides, and proteins), Arachidonic acid, Polyunsaturated fatty acid
Abstract

Polymorphisms of the human Delta-5 (FADS1) and Delta-6 (FADS2) desaturase genes have been recently described to be associated with the level of several long-chain n-3 and n-6 polyunsaturated fatty acids (PUFAs) in serum phospholipids. We have genotyped 13 single nucleotide polymorphisms (SNPs) located on the FADS1-FADS2-FADS3 gene cluster (chromosome 11q12-13.1) in 658 Italian adults (78% males; mean age 59.7 +/- 11.1 years) participating in the Verona Heart Project. Polymorphisms and statistically inferred haplotypes showed a strong association with arachidonic acid (C20:4n-6) levels in serum phospholipids and in erythrocyte cell membranes (rs174545 adjusted P value for multiple tests, P0.0001 and P0.0001, respectively). Other significant associations were observed for linoleic (C18:2n-6), alpha-linolenic (C18:3n-3) and eicosadienoic (C20:2n-6) acids. Minor allele homozygotes and heterozygotes were associated to higher levels of linoleic, alpha-linolenic, eicosadienoic and lower levels of arachidonic acid. No significant association was observed for stearidonic (C18:4n-3), eicosapentaenoic (C20:5n-3) and docosahexaenoic (C22:6n-3) acids levels. The observed strong association of FADS gene polymorphisms with the levels of arachidonic acid, which is a precursor of molecules involved in inflammation and immunity processes, suggests that SNPs of the FADS1 and FADS2 gene region are worth studying in diseases related to inflammatory conditions or alterations in the concentration of PUFAs.

Published
2008
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6. SNP detection by RNA-seq

Author

Xumerle, Luciano, Iacobucci, I., Mijatovic, Vladan, Mori, Antonio, Martinelli, Giovanni, Pignatti, Pierfranco, and Malerba, Giovanni

Subjects
hematology, Next generation sequencing, RNA-seq
Published
2013

21. rs4307059 and rs4141463 study in an Italian cohort with Autism spectrum disorder

Author

Prandini, Paola, Trabetti, Elisabetta, Pasquali, Alessandra, Muglia, P., Da Ros, L., Romanelli, Maria, Malerba, Giovanni, DALLA BERNARDINA, Bernardo, Zoccante, Leonardo, Boscaini, Flavio, Masi, G., Nardocci, F., Scifo, R., Zuddas, A., Pascotto, A., Tiberti, A., Molteni, M., Curatolo, P., Margari, L., Elia, M., Battistella, P. A., Parmeggiani, A., and Pignatti, Pierfranco

Subjects
DNA polymorphism, autism
Published
2010

24. Short Reads Toolkit e Deep Sequencing

Author

Xumerle, Luciano, Ferrarini, Alberto, Malerba, Giovanni, Delledonne, Massimo, and Pignatti, Pierfranco

Subjects
deep sequencing, RNA-seq, bioinformatica
Published
2010

28. Gene Environment Interactions in Respiratory Diseases – Protocol, Standard Operative Procedures and Questionnaires

Author

The GEIRD Study Group, DE MARCO, Roberto, Verlato, Giuseppe, Zanolin, Maria Elisabetta, Accordini, Simone, Bortolami, Oscar, Braggion, Marco, Cappa, Veronica, Cazzoletti, Lucia, Girardi, Paolo, Locatelli, Francesca, Marcon, Alessandro, Nicolis, D, Rava, Marta, Vesentini, Roberta, Ferrari, Marcello, Donatelli, L, Posenato, C, LO CASCIO, Vincenzo, Perbellini, Luigi, Olivieri, Mario, D'Amato, J, Donatini, E, Martinelli, M, Pignatti, Pierfranco, Bombieri, Cristina, Bettin, Md, Trabetti, Elisabetta, Poli, Albino, Nicolis, Morena, and Sembeni, Silvia

Subjects
Genes, Respiratory Diseases, Environment
Published
2010

29. PON2 Ser311Cys polymorphism is a predictor of total and cardiovascular mortality in patients with angiographically confirmed coronary artery disease

Author

Consoli, L, Martinelli, Nicola, Girelli, Domenico, Micaglio, R, Trabetti, Elisabetta, Malerba, Giovanni, Friso, Simonetta, Pizzolo, Francesca, Pignatti, Pierfranco, Corrocher, Roberto, and Olivieri, Oliviero

Subjects
cardiovascular mortality, PON2 Ser311Cys polymorphism, PON2 polymorphism, Paroxonases, coronary artery disease
Published
2010

34. Ability of different flow rates of fractional exaled nitric oxide (FeNO) to discriminate between asthmatic and no asthamatic subject

Author

Olivieri, Mario, Braggion, Marco, Accordini, Simone, Bombieri, Cristina, Bortolami, Oscar, Cappa, Veronica, Cazzoletti, Lucia, D’Amato, J., Ferrari, Marcello, Ganassini, A., Girardi, Paolo, LO CASCIO, Vincenzo, Locatelli, Francesca, Marcon, Alessandro, Nicolis, Morena, Pignatti, Pierfranco, Perbellini, Luigi, Poli, Albino, Rava, Marta, Sembeni, Silvia, Trabetti, Elisabetta, Verlato, Giuseppe, Zanolin, Maria Elisabetta, and DE MARCO, Roberto

Subjects
flow rates, nitric oxide, asthmatic and no asthamatic subject
Published
2009

42. Expression profiles of non syndromic thoracic aortic aneurysms

Author

Patuzzo, Cristina, Pasquali, Alessandra, Iafrancesco, Mauro, Faggian, Giuseppe, DAL PRÀ, Ilaria Pierpaola, Chiarini, Anna Maria, Armato, Ubaldo, Mazzucco, Alessandro, Pignatti, Pierfranco, and Trabetti, Elisabetta

Subjects
proteomics, aneurysms, human aorta
Published
2008

47. Proteomic investigation into nonsyndromic aneurysm of the human ascenging aorta

Author

DAL PRÀ, Ilaria Pierpaola, Chiarini, Anna Maria, Marconi, Maddalena, Pacchiana, Raffaella, Armato, Ubaldo, Pasquali, Alessandra, Biscuola, Michele, Patuzzo, Cristina, Trabetti, Elisabetta, Pignatti, Pierfranco, Iafrancesco, Mauro, Santini, Francesco, Faggian, Giuseppe, and Mazzucco, Alessandro

Subjects
Proteomic, Aneurysm
Published
2008

50. Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease

Author

Cavallari, Ugo Antonio Aristide, Trabetti, Elisabetta, Malerba, Giovanni, Girelli, Domenico, Biscuola, M, Olivieri, Oliviero, Girelli, D, Martinelli, Nicola, Olivieri, O, Corrocher, Roberto, Martinelli, N, Pignatti, Pierfranco, Angiolillo, Dj, Corrocher, R, and Pignatti, Pf

Subjects
Male, lcsh:Internal medicine, medicine.medical_specialty, lcsh:QH426-470, Genotype, medicine.medical_treatment, Population, Coronary Artery Disease, Biology, Polymorphism, Single Nucleotide, Coronary artery disease, P2Y12, Gene Frequency, Diabetes mellitus, Internal medicine, medicine, Genetics, Humans, Genetics(clinical), Platelet activation, lcsh:RC31-1245, education, Genetics (clinical), Cardiac catheterization, Aged, education.field_of_study, Receptors, Purinergic P2, Haplotype, Case-control study, Genetic Variation, Middle Aged, medicine.disease, Receptors, Purinergic P2Y12, lcsh:Genetics, Haplotypes, Case-Control Studies, Cardiology, Female, Research Article
Abstract

Background The platelet P2Y12 receptor plays a key role in platelet activation. The H2 haplotype of the P2Y12 receptor gene (P2RY12) has been found to be associated with maximal aggregation response to adenosine diphosphate (ADP) and with increased risk for peripheral arterial disease. No data are available on its association with coronary artery disease (CAD). Methods The H2 haplotype of the P2RY12 was determined in 1378 unrelated patients of both sexes selected according to the presence of significant coronary artery disease (CAD group) or having normal coronary angiogram at cardiac catheterization (CAD-free group). Significant coronary artery disease was angiographically determined, and was defined as a greater than 50% visually estimated luminal diameter stenosis in at least one major epicardial coronary artery. Results In the studied population 71.9% had CAD (n = 991) and 28.1% had normal coronary angiogram (n = 387). H2 haplotype carriers were more frequent in the CAD group (p = 0.03, OR = 1.36, 95%CI = 1.02–1.82). The H2 haplotype was significantly associated with CAD in non-smokers (p = 0.007, OR = 1.83 95%CI = 1.17–2.87), but not in smokers. The association remained significant after adjustment for other covariates (age, triglycerides, HDL, hypertension, diabetes) by multivariate logistic regression (p = 0.004, OR = 2.32 95%CI = 1.30–4.15). Conclusion Gene sequence variations of the P2Y12 receptor gene are associated with the presence of significant CAD, particularly in non-smoking individuals.

Published
2007

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