Search Results - "Rinaldi, Rosanna"

Protection of cells from oxidative stress by microsomal glutathione transferase 1 by Siritantikorn, Atchasai, Johansson, Katarina, Åhlen, Karin, Rinaldi, Rosanna, Suthiphongchai, Tuangporn, Wilairat, Prapon, Morgenstern, Ralf

“…Rat liver microsomal glutathione transferase 1 (MGST1) is a membrane-bound enzyme that displays both glutathione transferase and glutathione peroxidase…”
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Reactive Intermediates and The Dynamics of Glutathione Transferases by RINALDI, Rosanna, ELIASSON, Erik, SWEDMARK, Stellan, MORGENSTERN, Ralf

“…Reactive intermediates are a continuous burden in biology and several defense mechanisms have evolved. Here we focus on the functions of glutathione…”
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A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome by Castori, Marco, MD, Covaciu, Claudia, MD, PhD, Rinaldi, Rosanna, MD, Grammatico, Paola, PhD, Paradisi, Mauro, MD

“…Nicolaides-Baraitser syndrome (NBS) is a recognizable pattern of human malformations so far reported only in 5 patients. This condition is chiefly…”
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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases by Striano, Pasquale, Malacarne, Michela, Cavani, Simona, Pierluigi, Mauro, Rinaldi, Rosanna, Cavaliere, Maria Luigia, Rinaldi, Maria Michela, De Bernardo, Carmelilia, Coppola, Antonietta, Pintaudi, Maria, Gaggero, Roberto, Grammatico, Paola, Striano, Salvatore, Dallapiccola, Bruno, Zara, Federico, Faravelli, Francesca

“…Mental retardation, facial dysmorphisms, seizures, and brain abnormalities are features of 6q terminal deletions. We have ascertained five patients with 6q…”
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VACTERL association and maternal diabetes: A possible causal relationship? by Castori, Marco, Rinaldi, Rosanna, Capocaccia, Paolo, Roggini, Mario, Grammatico, Paola

“…BACKGROUND: Some factors(s)/features(s) of maternal insulin‐dependent diabetes mellitus are considered common human teratogens. Although the variable…”
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Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association by Castori, Marco, Rinaldi, Rosanna, Cappellacci, Sandra, Grammatico, Paola

“…VACTERL association is one of the most common recognizable patterns of human malformation and has been recently defined as a multiple polytopic developmental…”
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Antenatal presentation of the oculo‐auriculo‐vertebral spectrum (OAVS) by Castori, Marco, Brancati, Francesco, Rinaldi, Rosanna, Adami, Loredana, Mingarelli, Rita, Grammatico, Paola, Dallapiccola, Bruno

“…We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing hydrocephalus and radial aplasia. Post‐mortem examination followed pregnancy…”
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Pai syndrome: First patient with agenesis of the corpus callosum and literature review by Castori, Marco, Rinaldi, Rosanna, Bianchi, Aurelia, Caponetti, Aurelio, Assumma, Marcello, Grammatico, Paola

“…BACKGROUND: Pai syndrome (PS) is a rare regional developmental defect of the face, mainly characterized by the variable association of midline cleft of the…”
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Microsomal glutathione transferase 1 in anticancer drug resistance by Johansson, Katarina, Åhlen, Karin, Rinaldi, Rosanna, Sahlander, Karin, Siritantikorn, Atchasai, Morgenstern, Ralf

“…Glutathione transferases (GSTs) are often upregulated in tumors and have been suggested to play an important role in multiple drug resistance in cancer…”
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A deletion 3' to the PAX6 gene in familial aniridia cases by D'Elia, Angela Valentina, Pellizzari, Lucia, Fabbro, Dora, Pianta, Annalisa, Divizia, Maria Teresa, Rinaldi, Rosanna, Grammatico, Barbara, Grammatico, Paola, Arduino, Carlo, Damante, Giuseppe

“…PAX6 mutations cause aniridia as well as other various congenital eye abnormalities. Aniridia can be due to both point mutations and chromosomal…”
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Juvenile macular dystrophy and forearm pronation‐supination restriction presenting with features of distal arthrogryposis type 5 by Castori, Marco, Rinaldi, Rosanna, Barboni, Luana, Tanzilli, Paolo, Bamshad, Michael, Grammatico, Paola

“…The distal arthrogryposes are a heterogeneous group of conditions characterized by congenital contractures of hands and feet, and autosomal dominant…”
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Phacomatosis cesioflammea with unilateral lipohypoplasia by Castori, Marco, Rinaldi, Rosanna, Angelo, Corrado, Zambruno, Giovanna, Grammatico, Paola, Happle, Rudolf

“…Phacomatosis cesioflammea is characterized by the co‐existence of a large nevus cesius (i.e., aberrant Mongolian spot, or nevus fuscocoeruleus) and an…”
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Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs by STUPPIA, Liborio, ANTONUCCI, Ivana, MAJORE, Silvia, CALABRESE, Giuseppe, PALKA, Chiara, RAVANI, Anna, RINALDI, Rosanna, TIBONI, Gian Mario, BALLONE, Enzo, VENTUROLI, Anna, FERLINI, Alessandra, TORRENTE, Isabella, BINNI, Francesco, GRAMMATICO, Paola, CALZOLARI, Elisa, DALLAPICCOLA, Bruno, BRANDI, Alessandra, GRIFONE, Nicoletta, COLOSIMO, Alessia, DE SANTO, Mariella, GATTA, Valentina, GELLI, Gianfranco, GUIDA, Valentina

“…Genetic testing of the cystic fibrosis transmembrane conductance (CFTR) gene is currently performed in couples undergoing assisted reproduction techniques…”
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A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a “Pseudodeletion” and Is Not Associated with the Fragile X Syndrome Phenotype by Cecconi, Massimiliano, Forzano, Francesca, Rinaldi, Rosanna, Cappellacci, Sandra, Grammatico, Paola, Faravelli, Francesca, Dagna Bricarelli, Franca, Di Maria, Emilio, Grasso, Marina

“…The molecular diagnosis of fragile X syndrome relies on the detection of the pathogenic CGG repeat expansion in the FMR1 gene. Deletions and point mutations…”
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NADPH dependent activation of microsomal glutathione transferase 1 by Rinaldi, Rosanna, Aniya, Yoko, Svensson, Richard, Eliasson, Erik, Swedmark, Stellan, Shimoji, Miyuki, Morgenstern, Ralf

“…Microsomal glutathione transferase 1 (MGST1) can become activated up to 30-fold by several mechanisms in vitro (e.g. covalent modification by reactive…”
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Correlation Between Antioxidants and Phototypes in Melanocytes Cultures. A Possible Link of Physiologic and Pathologic Relevance by Picardo, Mauro, Maresca, Vittoria, Eibenschutz, Laura, De Bernardo, Carmelilia, Rinaldi, Rosanna, Grammatico, Paola

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Reactivity of Cysteine-49 and Its Influence on the Activation of Microsomal Glutathione Transferase 1:  Evidence for Subunit Interaction by Svensson, Richard, Rinaldi, Rosanna, Swedmark, Stellan, Morgenstern, Ralf

“…Microsomal glutathione transferase 1 is a homotrimeric detoxication enzyme protecting against electrophiles. The enzyme can also react with electrophiles, and…”
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Reactivity of cysteine-49 in microsomal glutathione transferase 1 by Svensson, R, Rinaldi, R, Swedmark, S, Morgenstern, R

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Microsomal glutathione- S -transferase 1 activation in relation to the cytochrome P450 system by Rinaldi, R, Svensson, R, Eliasson, E, Swedmark, S, Morgenstern, R

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Functional characterization of endothelin receptors in hypertensive resistance vessels by Montagnani, Monica, Potenza, Maria A, Rinaldi, Rosanna, Mansi, Gianfranco, Nacci, Carmela, Serio, Miralma, Vulpis, Vito, Pirrelli, Anna, Mitolo-Chieppa, Delia

“…OBJECTIVEThe physiological and pathophysiological functions of endothelin-1 in modulating the regional blood flow of normal and spontaneously hypertensive rats…”
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