Výsledky vyhľadávania - "Uda, Manuela"

Editorial: Female Infertility: Genetics of Reproductive Ageing, Menopause and Primary Ovarian Insufficiency Autor Marongiu, Mara, Crisponi, Laura, Uda, Manuela, Pelosi, Emanuele

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DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease Autor Lettre, Guillaume, Sankaran, Vijay G, Bezerra, Marcos André C, Araújo, Aderson S, Uda, Manuela, Sanna, Serena, Cao, Antonio, Schlessinger, David, Costa, Fernando F, Hirschhorn, Joel N, Orkin, Stuart H

“…Sickle cell disease (SCD) is a debilitating monogenic blood disorder with a highly variable phenotype characterized by severe pain crises, acute clinical…”
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Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits Autor Scuteri, Angelo, Sanna, Serena, Chen, Wei-Min, Uda, Manuela, Albai, Giuseppe, Strait, James, Najjar, Samer, Nagaraja, Ramaiah, Orrú, Marco, Usala, Gianluca, Dei, Mariano, Lai, Sandra, Maschio, Andrea, Busonero, Fabio, Mulas, Antonella, Ehret, Georg B, Fink, Ashley A, Weder, Alan B, Cooper, Richard S, Galan, Pilar, Chakravarti, Aravinda, Schlessinger, David, Cao, Antonio, Lakatta, Edward, Abecasis, Gonçalo R

“…The obesity epidemic is responsible for a substantial economic burden in developed countries and is a major risk factor for type 2 diabetes and cardiovascular…”
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Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia Autor Uda, Manuela, Galanello, Renzo, Sanna, Serena, Lettre, Guillaume, Sankaran, Vijay G, Chen, Weimin, Usala, Gianluca, Busonero, Fabio, Maschio, Andrea, Albai, Giuseppe, Piras, Maria Grazia, Sestu, Natascia, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Crisponi, Laura, Naitza, Silvia, Asunis, Isadora, Deiana, Manila, Nagaraja, Ramaiah, Perseu, Lucia, Satta, Stefania, Cipollina, Maria Dolores, Sollaino, Carla, Moi, Paolo, Hirschhorn, Joel N, Orkin, Stuart H, Abecasis, Gonçalo R, Schlessinger, David, Cao, Antonio

“…beta-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought of as simple Mendelian…”
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Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations Autor Tanaka, Toshiko, Scheet, Paul, Giusti, Betti, Bandinelli, Stefania, Piras, Maria Grazia, Usala, Gianluca, Lai, Sandra, Mulas, Antonella, Corsi, Anna Maria, Vestrini, Anna, Sofi, Francesco, Gori, Anna Maria, Abbate, Rosanna, Guralnik, Jack, Singleton, Andrew, Abecasis, Goncalo R, Schlessinger, David, Uda, Manuela, Ferrucci, Luigi

“…The B vitamins are components of one-carbon metabolism (OCM) that contribute to DNA synthesis and methylation. Homocysteine, a by-product of OCM, has been…”
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A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation Autor Naitza, Silvia, Porcu, Eleonora, Steri, Maristella, Taub, Dennis D., Mulas, Antonella, Xiao, Xiang, Strait, James, Dei, Mariano, Lai, Sandra, Busonero, Fabio, Maschio, Andrea, Usala, Gianluca, Zoledziewska, Magdalena, Sidore, Carlo, Zara, Ilenia, Pitzalis, Maristella, Loi, Alessia, Virdis, Francesca, Piras, Roberta, Deidda, Francesca, Whalen, Michael B., Crisponi, Laura, Concas, Antonio, Podda, Carlo, Uzzau, Sergio, Scheet, Paul, Longo, Dan L., Lakatta, Edward, Abecasis, Gonçalo R., Cao, Antonio, Schlessinger, David, Uda, Manuela, Sanna, Serena, Cucca, Francesco

“…Identifying the genes that influence levels of pro-inflammatory molecules can help to elucidate the mechanisms underlying this process. We first conducted a…”
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The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts Autor Li, Siguang, Sanna, Serena, Maschio, Andrea, Busonero, Fabio, Usala, Gianluca, Mulas, Antonella, Lai, Sandra, Dei, Mariano, Orrù, Marco, Albai, Giuseppe, Bandinelli, Stefania, Schlessinger, David, Lakatta, Edward, Scuteri, Angelo, Najjar, Samer S, Guralnik, Jack, Naitza, Silvia, Crisponi, Laura, Cao, Antonio, Abecasis, Gonçalo, Ferrucci, Luigi, Uda, Manuela, Chen, Wei-Min, Nagaraja, Ramaiah

“…High serum uric acid levels elevate pro-inflammatory-state gout crystal arthropathy and place individuals at high risk for cardiovascular morbidity and…”
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Foxl2 is required for commitment to ovary differentiation Autor Ottolenghi, Chris, Omari, Shakib, Garcia-Ortiz, J Elias, Uda, Manuela, Crisponi, Laura, Forabosco, Antonino, Pilia, Giuseppe, Schlessinger, David

“…Genetic control of female sex differentiation from a bipotential gonad in mammals is poorly understood. We find that mouse XX gonads lacking the forkhead…”
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Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability Autor Sanna, Serena, Li, Bingshan, Mulas, Antonella, Sidore, Carlo, Kang, Hyun M., Jackson, Anne U., Piras, Maria Grazia, Usala, Gianluca, Maninchedda, Giuseppe, Sassu, Alessandro, Serra, Fabrizio, Palmas, Maria Antonietta, Wood, William H., Njølstad, Inger, Laakso, Markku, Hveem, Kristian, Tuomilehto, Jaakko, Lakka, Timo A., Rauramaa, Rainer, Boehnke, Michael, Cucca, Francesco, Uda, Manuela, Schlessinger, David, Nagaraja, Ramaiah, Abecasis, Gonçalo R.

“…Complex trait genome-wide association studies (GWAS) provide an efficient strategy for evaluating large numbers of common variants in large numbers of…”
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Independent and additive effects of cytokine patterns and the metabolic syndrome on arterial aging in the SardiNIA Study Autor Scuteri, Angelo, Orru, Marco, Morrell, Christopher, Piras, Maria Grazia, Taub, Dennis, Schlessinger, David, Uda, Manuela, Lakatta, Edward G.

“…Metabolic syndrome (MetS) and its components accelerate age-associated increases in arterial stiffness and thickness. We investigated whether specific…”
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Personality traits prospectively predict verbal fluency in a lifespan sample Autor Sutin, Angelina R, Terracciano, Antonio, Kitner-Triolo, Melissa H, Uda, Manuela, Schlessinger, David, Zonderman, Alan B

“…In a community-dwelling sample (N = 4,790; age range 14-94), we examined whether personality traits prospectively predicted performance on a verbal fluency…”
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Genetics of serum BDNF: Meta-analysis of the Val66Met and genome-wide association study Autor Terracciano, Antonio, Piras, Maria Grazia, Lobina, Monia, Mulas, Antonella, Meirelles, Osorio, Sutin, Angelina R., Chan, Wayne, Sanna, Serena, Uda, Manuela, Crisponi, Laura, Schlessinger, David

“…Abstract Objectives. Lower levels of serum brain derived neurotrophic factor (BDNF) is one of the best known biomarkers of depression. To identify genetic…”
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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome Autor Crisponi, Laura, Deiana, Manila, Loi, Angela, Chiappe, Francesca, Uda, Manuela, Amati, Patrizia, Bisceglia, Luigi, Zelante, Leopoldo, Nagaraja, Ramaiah, Porcu, Susanna, Serafina Ristaldi, M., Marzella, Rosalia, Rocchi, Mariano, Nicolino, Marc, Lienhardt-Roussie, Anne, Nivelon, Annie, Verloes, Alain, Schlessinger, David, Gasparini, Paolo, Bonneau, Dominique, Cao, Antonio, Pilia, Giuseppe

“…In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the…”
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Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels Autor Pichler, Irene, Minelli, Cosetta, Sanna, Serena, Tanaka, Toshiko, Schwienbacher, Christine, Naitza, Silvia, Porcu, Eleonora, Pattaro, Cristian, Busonero, Fabio, Zanon, Alessandra, Maschio, Andrea, Melville, Scott A, Grazia Piras, Maria, Longo, Dan L, Guralnik, Jack, Hernandez, Dena, Bandinelli, Stefania, Aigner, Elmar, Murphy, Anthony T, Wroblewski, Victor, Marroni, Fabio, Theurl, Igor, Gnewuch, Carsten, Schadt, Eric, Mitterer, Manfred, Schlessinger, David, Ferrucci, Luigi, Witcher, Derrick R, Hicks, Andrew A, Weiss, Günter, Uda, Manuela, Pramstaller, Peter P

“…The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association…”
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Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 Autor Crisponi, Laura, Crisponi, Giangiorgio, Meloni, Alessandra, Toliat, Mohammad Reza, Nurnberg, Gudrun, Usala, Gianluca, Uda, Manuela, Masala, Marco, Hohne, Wolfgang, Becker, Christian, Marongiu, Mara, Chiappe, Francesca, Kleta, Robert, Rauch, Anita, Wollnik, Bernd, Strasser, Friedrich, Reese, Thomas, Jakobs, Cornelis, Kurlemann, Gerd, Cao, Antonio, Nurnberg, Peter, Rutsch, Frank

“…Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling…”
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Determination and stability of sex Autor Ottolenghi, Chris, Uda, Manuela, Crisponi, Laura, Omari, Shakib, Cao, Antonio, Forabosco, Antonino, Schlessinger, David

“…How is the embryonic bipotential gonad regulated to produce either an ovary or a testis? In males, transient early activation of the Y chromosome Sry gene…”
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Aging of Oocyte, Ovary, and Human Reproduction Autor OTTOLENGHI, CHRIS, UDA, MANUELA, HAMATANI, TOSHIO, CRISPONI, LAURA, GARCIA, JOSE-ELIAS, KO, MINORU, PILIA, GIUSEPPE, SFORZA, CHIARELLA, SCHLESSINGER, DAVID, FORABOSCO, ANTONINO

“…: We review age‐related changes in the ovary and their effect on female fertility, with particular emphasis on follicle formation, follicle dynamics, and…”
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Facets of personality linked to underweight and overweight Autor Terracciano, Antonio, Sutin, Angelina R, McCrae, Robert R, Deiana, Barbara, Ferrucci, Luigi, Schlessinger, David, Uda, Manuela, Costa, Jr, Paul T

“…Personality traits underlie maladaptive behaviors, and cognitive and emotional disturbances that contribute to major preventable causes of global disease…”
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Determination and Stability of Gonadal Sex Autor Schlessinger, David, Garcia-Ortiz, Jose-Elias, Forabosco, Antonino, Uda, Manuela, Crisponi, Laura, Pelosi, Emanuele

“…The discovery that the SRY gene induces male sex in humans and other mammals led to speculation about a possible equivalent for female sex. But females are…”
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Transcriptional control of ovarian development in somatic cells Autor Ottolenghi, Chris, Colombino, Maria, Crisponi, Laura, Cao, Antonio, Forabosco, Antonino, Schlessinger, David, Uda, Manuela

“…Developmental transitions of the bipotential gonad to the embryonic ovary and thence to the follicle-filled mature ovary are expected to be coordinated by sets…”
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