Search Results - "Fuciarelli, Maria"

Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins by De Lillo, Antonella, Pathak, Gita A, Low, Aislinn, De Angelis, Flavio, Abou Alaiwi, Sarah, Miller, Edward J, Fuciarelli, Maria, Polimanti, Renato

“…Coding mutations in the Transthyretin (TTR) gene cause a hereditary form of amyloidosis characterized by a complex genotype-phenotype correlation with limited…”
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Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis by Iorio, Andrea, De Lillo, Antonella, De Angelis, Flavio, Di Girolamo, Marco, Luigetti, Marco, Sabatelli, Mario, Pradotto, Luca, Mauro, Alessandro, Mazzeo, Anna, Stancanelli, Claudia, Perfetto, Federico, Frusconi, Sabrina, My, Filomena, Manfellotto, Dario, Fuciarelli, Maria, Polimanti, Renato

“…Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role…”
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GSTM1 null genotype as risk factor for late-onset Alzheimer's disease in Italian patients by Piacentini, Sara, Polimanti, Renato, Squitti, Rosanna, Ventriglia, Mariacarla, Cassetta, Emanuele, Vernieri, Fabrizio, Rossini, Paolo Maria, Manfellotto, Dario, Fuciarelli, Maria

“…Abstract Alzheimer's disease (AD) is the most common form of dementia in the elderly. The causes of AD are very complex but there is general agreement about…”
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GSTT1 and GSTM1 gene polymorphisms in European and African populations by Piacentini, Sara, Polimanti, Renato, Porreca, Flavia, Martínez-Labarga, Cristina, De Stefano, Gian Franco, Fuciarelli, Maria

“…Glutathione S-transferases (GSTs) are a superfamily of detoxificant enzymes. Pharmacogenomic studies have revealed interethnic differences in GST allelic…”
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Glutathione S-transferase genes and the risk of recurrent miscarriage in Italian women by Polimanti, Renato, Ph.D, Piacentini, Sara, Ph.D, Lazzarin, Natalia, M.D., Ph.D, Vaquero, Elena, M.D, Re, Maria Antonietta, Ph.D, Manfellotto, Dario, M.D, Fuciarelli, Maria, Ph.D

“…Objective To investigate the role of glutathione S-transferases (GSTs) in the pathogenesis of recurrent miscarriage (RM). Design Genetic association study…”
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GSTO1 uncommon genetic variants are associated with recurrent miscarriage risk by Polimanti, Renato, Ph.D, Graziano, Maria Eleonora, M.Sc, Lazzarin, Natalia, M.D., Ph.D, Vaquero, Elena, M.D, Manfellotto, Dario, M.D, Fuciarelli, Maria, Ph.D

“…Objective To explore the role of the GSTO1 gene in the pathogenesis of recurrent miscarriage (RM). Design Genetic association study. Setting Rome, Italy…”
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Microparticles from dental calculus disclose paleoenvironmental and palaeoecological records by D'Agostino, Alessia, Di Marco, Gabriele, Rolfo, Mario Federico, Alessandri, Luca, Marvelli, Silvia, Braglia, Roberto, Congestri, Roberta, Berrilli, Federica, Fuciarelli, Maria Felicita, Ferracci, Angelica, Canini, Antonella, Gismondi, Angelo

“…Plants have always represented a key element in landscape delineation. Indeed, plant diversity, whose distribution is influenced by geographic/climatic…”
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Modulation of the GSTT1 activity by the GSTM1 phenotype in a sample of Italian farm-workers by Fuciarelli, Maria, Caccuri, Annamaria, De Francesca, Maria, Ferazzoli, Flavia, Piacentini, Sara, Porreca, Flavia

“…Glutathione S-transferase (GST) isozymes catalyze nucleophilic attack by reduced Glutathione (GSH) on a variety of electrophilic compounds and play a central…”
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HapMap-based study of human soluble glutathione S-transferase enzymes: the role of natural selection in shaping the single nucleotide polymorphism diversity of xenobiotic-metabolizing genes by Polimanti, Renato, Piacentini, Sara, Fuciarelli, Maria

“…OBJECTIVEGlutathione S-transferase enzymes (GSTs; EC2.5.1.18) constitute the principal phase II superfamily, which plays a key role in cellular detoxification…”
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Human genetic variation of CYP450 superfamily: analysis of functional diversity in worldwide populations by Polimanti, Renato, Piacentini, Sara, Manfellotto, Dario, Fuciarelli, Maria

“…The present study aimed to investigate the human genetic diversity of the CYP450 superfamily in order to identify functional interethnic differences and…”
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Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank by De Lillo, Antonella, D'Antona, Salvatore, Pathak, Gita A, Wendt, Frank R, De Angelis, Flavio, Fuciarelli, Maria, Polimanti, Renato

“…To investigate cross-ancestry genetics of complex traits, we conducted a phenome-wide analysis of loci with heterogeneous effects across African,…”
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Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses by De Lillo, Antonella, De Angelis, Flavio, Di Girolamo, Marco, Luigetti, Marco, Frusconi, Sabrina, Manfellotto, Dario, Fuciarelli, Maria, Polimanti, Renato

“…Transthyretin ( TTR ) gene has a causal role in a hereditary form of amyloidosis (ATTRm) and is potentially involved in the risk of wild-type transthyretin…”
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Genetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems by Polimanti, Renato, Carboni, Cinzia, Baesso, Ilenia, Piacentini, Sara, Iorio, Andrea, De Stefano, Gian Franco, Fuciarelli, Maria

“…Glutathione S-Transferase enzymes (GSTs) constitute the principal Phase II superfamily which plays a key role in cellular detoxification and in other…”
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Abstract 357: DNA Methylation Profiles of African American Val122Ile-Transthyretin Mutation Carriers Reveals Genes Involved in Amyloidosis Regulation by Pathak, Gita, Wendt, Frank, De Lillo, Antonella, Nunez, Yari, Goswami, Aranyak, De Angelis, Flavio, Fuciarelli, Maria, Kranzler, Henry, Gelernter, Joel, Polimanti, Renato

“…Abstract only The Transthyretin ( TTR ) Val122Ile mutation causes a rare life-threatening disorder attributable to amyloid deposition. This mutation is mainly…”
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Glutathione S-transferase variants as risk factor for essential hypertension in Italian patients by Polimanti, Renato, Piacentini, Sara, Lazzarin, Natalia, Re, Maria Antonietta, Manfellotto, Dario, Fuciarelli, Maria

“…Involvement of genetic polymorphisms in arterial hypertension has already been reported, including GST genes, with contrasting results. The present research…”
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In silico analysis of TTR gene (coding and non-coding regions, and interactive network) and its implications in transthyretin-related amyloidosis by Polimanti, Renato, Di Girolamo, Marco, Manfellotto, Dario, Fuciarelli, Maria

“…Abstract Introduction: Transthyretin (TTR)-related amyloidosis is a life-threatening disease. Currently, several questions about the pathogenic mechanisms of…”
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Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes by Polimanti, Renato, Di Girolamo, Marco, Manfellotto, Dario, Fuciarelli, Maria

“…Abstract Introduction: Heterogeneity in the genotype-phenotype correlation of transthyretin (TTR)-related amyloidosis has been reported, suggesting that other…”
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Effect of the GSTM1 gene deletion on glycemic variability, sympatho-vagal balance and arterial stiffness in patients with metabolic syndrome, but without diabetes by Iorio, Andrea, Ylli, Dorina, Polimanti, Renato, Picconi, Fabiana, Maggio, Paola, Francomano, Davide, Aversa, Antonio, Manfellotto, Dario, Fuciarelli, Maria, Frontoni, Simona

“…An increased rate of cerebrovascular complications in patients with metabolic syndrome (MetS) has been reported. Previous studies demonstrated an association…”
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Human pharmacogenomic variation of antihypertensive drugs: from population genetics to personalized medicine by Polimanti, Renato, Iorio, Andrea, Piacentini, Sara, Manfellotto, Dario, Fuciarelli, Maria

“…To investigate the human pharmacogenetic variation related to antihypertensive drugs, providing a survey of functional interpopulation differences in…”
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Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis by Iorio, Andrea, De Angelis, Flavio, Di Girolamo, Marco, Luigetti, Marco, Pradotto, Luca G, Mazzeo, Anna, Frusconi, Sabrina, My, Filomena, Manfellotto, Dario, Fuciarelli, Maria, Polimanti, Renato

“…Transthyretin (TTR) amyloidosis is a hereditary disease with a complex genotype-phenotype correlation. We conducted a literature survey to define the clinical…”
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