Search Results - "PIGNATTI, P. F."

Variants and Haplotypes of TCF7L2 Are Associated with β-Cell Function in Patients with Newly Diagnosed Type 2 Diabetes: The Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 1 by Bonetti, S, Trombetta, M, Malerba, G, Boselli, L, Trabetti, E, Muggeo, M, Stoico, V, Negri, C, Pignatti, P. F, Bonora, E, Bonadonna, R. C

“…TCF7L2 variants influence β-cell function and may play a role in determining the metabolic phenotype of patients with newly diagnosed type 2 diabetes mellitus…”
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PPARG2 Pro12Ala and ADAMTS9 rs4607103 as “insulin resistance loci” and “insulin secretion loci” in Italian individuals. The GENFIEV study and the Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 4 by Trombetta, M., Bonetti, S., Boselli, M. L., Miccoli, R., Trabetti, E., Malerba, G., Pignatti, P. F., Bonora, E., Del Prato, S., Bonadonna, R. C.

“…We investigated cross-sectionally whether the type 2 diabetes (T2DM) risk alleles of rs1801282 ( PPARG2 ) and rs4607103 ( ADAMTS9 ) were associated with T2DM…”
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Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma by Malerba, G., Lindgren, C. M., Xumerle, L., Kiviluoma, P., Trabetti, E., Laitinen, T., Galavotti, R., Pescollderungg, L., Boner, A. L., Kere, J., Pignatti, P. F.

“…Summary Background Several genome scans have reported linkage of markers on chromosome 7p with asthma and related phenotypes in different populations. A fine…”
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Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema by Ferrarotti, I, Zorzetto, M, Beccaria, M, Gile, L.S, Porta, R, Ambrosino, N, Pignatti, P.F, Cerveri, I, Pozzi, E, Luisetti, M

“…Genetic factors are believed to play a role in the individual susceptibility to chronic obstructive pulmonary disease (COPD). Tumour necrosis factor (TNF)…”
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Recommendations for the classification of diseases as CFTR-related disorders by Bombieri, C, Claustres, M, De Boeck, K, Derichs, N, Dodge, J, Girodon, E, Sermet, I, Schwarz, M, Tzetis, M, Wilschanski, M, Bareil, C, Bilton, D, Castellani, C, Cuppens, H, Cutting, G.R, Drevínek, P, Farrell, P, Elborn, J.S, Jarvi, K, Kerem, B, Kerem, E, Knowles, M, Macek, M, Munck, A, Radojkovic, D, Seia, M, Sheppard, D.N, Southern, K.W, Stuhrmann, M, Tullis, E, Zielenski, J, Pignatti, P.F, Ferec, C

“…Abstract Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a…”
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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice by Castellani, C, Cuppens, H, Macek, M, Cassiman, J.J, Kerem, E, Durie, P, Tullis, E, Assael, B.M, Bombieri, C, Brown, A, Casals, T, Claustres, M, Cutting, G.R, Dequeker, E, Dodge, J, Doull, I, Farrell, P, Ferec, C, Girodon, E, Johannesson, M, Kerem, B, Knowles, M, Munck, A, Pignatti, P.F, Radojkovic, D, Rizzotti, P, Schwarz, M, Stuhrmann, M, Tzetis, M, Zielenski, J, Elborn, J.S

“…Abstract It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the…”
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X-linked alport syndrome : an SSCP-based mutation survey over all 51 exons of the COL4A5 gene by RENIERI, A, BRUTTINI, M, MASSELLA, L, BANFI, G, SCOLARI, F, SESSA, A, RIZZONI, G, TRYGGVASON, K, PIGNATTI, P. F, SAVI, M, BALLABIO, A, DE MARCHI, M, GALLI, L, ZANELLI, P, NERI, T, ROSSETTI, S, TURCO, A, HEISKARI, N, ZHOU, J, GUSMANO, R

“…The COL4A5 gene encodes the alpha5 (type IV) collagen chain and is defective in X-linked Alport syndrome (AS). Here, we report the first systematic analysis of…”
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Linkage to atopy on chromosome 19 in north-eastern Italian families with allergic asthma by Venanzi, S., Malerba, G., Galavotti, R., Lauciello, M. C., Trabetti, E., Zanoni, G., Pescollderungg, L., Martinati, L. C., Boner, A. L., Pignatti, P. F.

“…Background Allergic asthma is a multifactorial disease for which there is a widely assessed, although poorly understood, genetic involvement. Genome‐wide…”
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A1298C methylenetetrahydrofolate reductase mutation and coronary artery disease: relationships with C677T polymorphism and homocysteine/folate metabolism by FRISO, S, GIRELLI, D, TRABETTI, E, STRANIERI, C, OLIVIERI, O, TINAZZI, E, MARTINELLI, N, FACCINI, G, PIGNATTI, P. F, CORROCHER, R

“…5, 10-Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine/methionine metabolism. The most-studied C677T polymorphism in the MTHFR…”
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Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis by Pignatti, P F, Bombieri, C, Marigo, C, Benetazzo, M, Luisetti, M

“…In order to identify a possible hereditary predisposition to the development of obstructive pulmonary disease of unknown origin, we have looked for the…”
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Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease by BOMBIERI, C, BENETAZZO, M, SACCOMANI, A, BELPINATI, F, GILE, L. S, LUISETTI, M, PIGNATTI, P. F

“…In order to determine the possible role of the cystic fibrosis transmembrane regulator (CFTR) gene in pulmonary diseases not due to cystic fibrosis, a complete…”
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Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis by Dequeker, E, Cuppens, H, Dodge, J, Estivill, X, Goossens, M, Pignatti, P F, Scheffer, H, Schwartz, M, Schwarz, M, Tümmler, B, Cassiman, J J

“…These recommendations for quality improvement of cystic fibrosis genetic diagnostic testing provide general guidelines for the molecular genetic testing of…”
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Association of a lymphotoxin α gene polymorphism and atopy in Italian families by Trabetti, Elisabetta, Patuzzo, Cristina, Malerba, Giovanni, Galavotti, Roberta, Martinati, Laura Carmen, Boner, Attilio L, Pignatti, Pier Franco

“…Tumour necrosis factor (TNF) is a proinflammatory cytokine that increases human airway tissue responsiveness and is considered a candidate gene for asthma. Two…”
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Interaction between metabolic syndrome and PON1 polymorphisms as a determinant of the risk of coronary artery disease by Martinelli, N, Girelli, D, Olivieri, O, Cavallari, U, Biscuola, M, Trabetti, E, Friso, S, Pizzolo, F, Tenuti, I, Bozzini, C, Villa, G, Ceradini, B, Sandri, M, Cheng, S, Grow, M A, Pignatti, P F, Corrocher, R

“…The enzyme serum paraoxonase plays an important role in antioxidant defences and prevention of atherosclerosis. Metabolic syndrome (MS) is a clinical condition…”
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CFTR gene variant IVS8-5T in disseminated bronchiectasis by Pignatti, P F, Bombieri, C, Benetazzo, M, Casartelli, A, Trabetti, E, Gilè, L S, Martinati, L C, Boner, A L, Luisetti, M

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High Frequency of Cystic Fibrosis Transmembrane Regulator Mutation L997F in Patients with Recurrent Idiopathic Pancreatitis and in Newborns with Hypertrypsinemia by Gomez Lira, M., Benetazzo, M.G., Marzari, M.G., Bombieri, C., Belpinati, F., Castellani, C., Cavallini, G.C., Mastella, G., Pignatti, P.F.

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Linkage analysis of chromosome 12 markers in Italian families with atopic asthmatic children by MALERBA, Giovanni, LAUCIELLO, Maria C, LEVITT, R. O. Y. C, PIGNATTI, Pier Franco, SCHERPBIER, Titia, TRABETTI, Elisabetta, GALAVOTTI, Roberta, CUSIN, Veronica, PESCOLLDERUNGG, Lydia, ZANONI, Giovanna, MARTINATI, Laura C, BONER, Attilio L

“…We investigated 116 Italian atopic families (560 individuals) for linkage with 13 DNA markers on chromosome 12. All the subjects were phenotyped for asthma,…”
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Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis by Gomez-Lira, M, Moretto, G, Bonamini, D, Benedetti, M.D, Pignatti, P.F, Rizzuto, N, Salviati, A

“…A detailed analysis of the coding sequences of myelin oligodendrocyte glycoprotei (MOG) gene was performed in multiple sclerosis (MS) patients and in control…”
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Upregulated Expression of Toll-like Receptor 4 in Peripheral Blood of Ischaemic Stroke Patients Correlates with Cyclooxygenase 2 Expression by Ferronato, S, Lira, M.G, Olivato, S, Scuro, A, Veraldi, G.F, Romanelli, M.G, Patuzzo, C, Malerba, G, Pignatti, P.F, Mazzucco, S

“…Abstract Objectives An inflammatory process following stroke in human brains and systemic inflammatory responses after stroke in humans have been reported by…”
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Interaction between smoking and PON2 Ser311Cys polymorphism as a determinant of the risk of myocardial infarction by Martinelli, N., Girelli, D., Olivieri, O., Stranieri, C., Trabetti, E., Pizzolo, F., Friso, S., Tenuti, I., Cheng, S., Grow, M. A., Pignatti, P. F., Corrocher, R.

“…Background  Increased oxidative stress is thought to play a role in the pathogenesis of the atherothrombotic process. Paraoxonases (PONs) are closely related…”
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