Search Results - "Pignataro, Piero"

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus by Andolfo, Immacolata, Martone, Stefania, Ribersani, Michela, Bianchi, Simona, Manna, Francesco, Genesio, Rita, Gambale, Antonella, Pignataro, Piero, Testi, Anna Maria, Iolascon, Achille, Russo, Roberta

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Endoplasmic Reticulum stress reduces COPII vesicle formation and modifies Sec23a cycling at ERESs by Amodio, Giuseppina, Venditti, Rossella, De Matteis, Maria Antonietta, Moltedo, Ornella, Pignataro, Piero, Remondelli, Paolo

“…•ER stress reduces the amount of membrane bound Sec23a.•GFP-Sec23a cycles more rapidly at ERES of ER stressed cells.•ER stress induces faster Sec23a release…”
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Impact of interleukin-6 -174 G>C gene promoter polymorphism on neuroblastoma by Totaro, Francesca, Cimmino, Flora, Pignataro, Piero, Acierno, Giovanni, De Mariano, Marilena, Longo, Luca, Tonini, Gian Paolo, Iolascon, Achille, Capasso, Mario

“…Common variants in DNA may predispose to onset and progression of neuroblastoma (NB). The genotype GG of single nucleotide polymorphism (SNP) rs1800795 (-174…”
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Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency by Cicatiello, Rita, Pignataro, Piero, Izzo, Antonella, Mollo, Nunzia, Pezone, Lucia, Maruotti, Giuseppe Maria, Sarno, Laura, Sglavo, Gabriella, Conti, Anna, Genesio, Rita, Nitsch, Lucio

“…We have carried out a retrospective study of chromosome anomalies associated with increased nuchal translucency (NT) in order to compare yield rates of…”
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Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias by Russo, Roberta, Andolfo, Immacolata, Manna, Francesco, Gambale, Antonella, Marra, Roberta, Rosato, Barbara Eleni, Caforio, Paola, Pinto, Valeria, Pignataro, Piero, Radhakrishnan, Kottayam, Unal, Sule, Tomaiuolo, Giovanna, Forni, Gian Luca, Iolascon, Achille

“…Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included:…”
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Peculiar footprints in a child with agenesis of corpus callosum by Cappuccio, Gerarda, Genesio, Rita, Pignataro, Piero, Brunetti‐Pierri, Nicola

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Fine mapping of 2q35 high‐risk neuroblastoma locus reveals independent functional risk variants and suggests full‐length BARD1 as tumor‐suppressor by Cimmino, Flora, Avitabile, Marianna, Diskin, Sharon J., Vaksman, Zalman, Pignataro, Piero, Formicola, Daniela, Cardinale, Antonella, Testori, Alessandro, Koster, Jan, de Torres, Carmen, Devoto, Marcella, Maris, John M., Iolascon, Achille, Capasso, Mario

“…A previous genome‐wide association study (GWAS) identified common variation at the BARD1 locus as being highly associated with susceptibility to high‐risk…”
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Peculiar footprints in a child with agenesis of corpus callosum by Cappuccio, Gerarda, Genesio, Rita, Pignataro, Piero, Brunetti‐Pierri, Nicola

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Two cases of 16q12.1q21 deletions and refinement of the critical region by Apuzzo, Diletta, Cappuccio, Gerarda, Vaisanen, Taneli, Alagia, Marianna, Pignataro, Piero, Genesio, Rita, Brunetti-Pierri, Nicola

“…Interstitial deletions of 16q chromosome including 16q12.1q21 region are very rare, with only three cases reported to date. Main clinical features include…”
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Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression by Lasorsa, Vito Alessandro, Formicola, Daniela, Pignataro, Piero, Cimmino, Flora, Calabrese, Francesco Maria, Mora, Jaume, Esposito, Maria Rosaria, Pantile, Marcella, Zanon, Carlo, De Mariano, Marilena, Longo, Luca, Hogarty, Michael D, de Torres, Carmen, Tonini, Gian Paolo, Iolascon, Achille, Capasso, Mario

“…The spectrum of somatic mutation of the most aggressive forms of neuroblastoma is not completely determined. We sought to identify potential cancer drivers in…”
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Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition by Gambale, Antonella, Russo, Roberta, Andolfo, Immacolata, Quaglietta, Lucia, De Rosa, Gianluca, Contestabile, Valentina, De Martino, Lucia, Genesio, Rita, Pignataro, Piero, Giglio, Sabrina, Capasso, Mario, Parasole, Rosanna, Pasini, Barbara, Iolascon, Achille

“…Cancer predisposition syndromes (CPS) result from germline pathogenic variants, and they are increasingly recognized in the etiology of many pediatric cancers…”
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An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma by Formicola, Daniela, Petrosino, Giuseppe, Lasorsa, Vito Alessandro, Pignataro, Piero, Cimmino, Flora, Vetrella, Simona, Longo, Luca, Tonini, Gian Paolo, Oberthuer, André, Iolascon, Achille, Fischer, Matthias, Capasso, Mario

“…The prognosis of children with metastatic stage 4 neuroblastoma (NB) has remained poor in the past decade. Using microarray analyses of 342 primary tumors, we…”
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M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA by Barone, Annarita, Iasevoli, Felice, Matrone, Marta, Filomena Buonaguro, Elisabetta, Falco, Mariateresa, Genesio, Rita, Pignataro, Piero, Capasso, Mario, Gambale, Antonella, Avagliano, Camilla, Razzino, Eugenio, Notar Francesco, Danilo, Ciccarelli, Mariateresa, Vitiello, Giuseppina, Andolfo, Immacolata, Nitsch, Lucio, Iolascon, Achille, de Bartolomeis, Andrea

“…Abstract Background Schizophrenia (SCZ) is a debilitating mental illness characterized by a highly complex, heterogeneous, non-mendelian genetic background…”
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The Pro12Ala polymorphism of PPARγ2 modulates beta cell function and failure to oral glucose‐lowering drugs in patients with type 2 diabetes by Masulli, Maria, Della Pepa, Giuseppe, Cocozza, Sara, Capasso, Mario, Pignataro, Piero, Vitale, Marilena, Gastaldelli, Amalia, Russo, Marco, Dolce, Pasquale, Riccardi, Gabriele, Rivellese, Angela A., Vaccaro, Olga

“…Background We evaluate whether the Pro12Ala polymorphism of peroxisome proliferator‐activated receptor γ2 (PPARγ2) has a role in the progression of diabetes by…”
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A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability by Pinelli, Michele, Terrone, Gaetano, Troglio, Flavia, Squeo, Gabriella Maria, Cappuccio, Gerarda, Imperati, Floriana, Pignataro, Piero, Genesio, Rita, Nitch, Lucio, Del Giudice, Ennio, Merla, Giuseppe, Testa, Giuseppe, Brunetti‐Pierri, Nicola

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Association Study Between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population by Pignataro, Piero, Pezone, Lucia, Di Gioia, Giuseppe, Franco, Danilo, Iaccarino, Guido, Iolascon, Achille, Ciccarelli, Michele, Capasso, Mario

“…In this study, we verify the association between the rs1333049 single nucleotide polymorphism (9p21.3) within CDKN2A-CDKN2B and coronary artery disease (CAD)…”
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Incidence of fatigue and low-dose corticosteroid use in prostate cancer patients receiving systemic treatment: a meta-analysis of randomized controlled trials by Ferro, Matteo, Di Lorenzo, Giuseppe, de Cobelli, Ottavio, Bruzzese, Dario, Pignataro, Piero, Borghesi, Marco, Musi, Gennaro, Vartolomei, Mihai Dorin, Cosimato, Vincenzo, Serino, Alessandro, Ieluzzi, Vincenzo, Terracciano, Daniela, Damiano, Rocco, Cantiello, Francesco, Mistretta, Francesco Alessandro, Muto, Matteo, Lucarelli, Giuseppe, De Placido, Pietro, Buonerba, Carlo

“…Background Cancer-related fatigue (CRF) is a complex condition that is reported in > 50% of cancer patients. In men with castration-resistant prostate cancer…”
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Erratum to: Association Study between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population by Pignataro, Piero, Pezone, Lucia, Di Gioia, Giuseppe, Franco, Danilo, Iaccarino, Guido, Iolascon, Achille, Ciccarelli, Michele, Capasso, Mario

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A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma by Calabrese, Francesco Maria, Clima, Rosanna, Pignataro, Piero, Lasorsa, Vito Alessandro, Hogarty, Michael D, Castellano, Aurora, Conte, Massimo, Tonini, Gian Paolo, Iolascon, Achille, Gasparre, Giuseppe, Capasso, Mario

“…Neuroblastoma, a tumor of the developing sympathetic nervous system, is a common childhood neoplasm that is often lethal. Mitochondrial DNA (mtDNA) mutations…”
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Impact of Interleukin-6 -174 GC Gene Promoter Polymorphism on Neuroblastoma by Totaro, Francesca, Cimmino, Flora, Pignataro, Piero, Acierno, Giovanni, De Mariano, Marilena, Longo, Luca, Tonini, Gian Paolo, Iolascon, Achille, Capasso, Mario

“…Background Common variants in DNA may predispose to onset and progression of neuroblastoma (NB). The genotype GG of single nucleotide polymorphism (SNP)…”
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