Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells
Ottolenghi, Chris, Pelosi, Emanuele, Tran, Joseph, Colombino, Maria, Douglass, Eric, Nedorezov, Timur, Cao, Antonio, Forabosco, Antonino, Schlessinger, David
Published in Human molecular genetics (01.12.2007)
Published in Human molecular genetics (01.12.2007)
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Journal Article
DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
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
Published in Proceedings of the National Academy of Sciences - PNAS (19.08.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (19.08.2008)
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Journal Article
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits
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
Published in PLoS genetics (01.07.2007)
Published in PLoS genetics (01.07.2007)
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Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia
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
Published in Proceedings of the National Academy of Sciences - PNAS (05.02.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (05.02.2008)
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Journal Article
KLF1 gene mutations cause borderline HbA2
Perseu, Lucia, Satta, Stefania, Moi, Paolo, Demartis, Franca Rosa, Manunza, Laura, Sollaino, Maria Carla, Barella, Susanna, Cao, Antonio, Galanello, Renzo
Published in Blood (20.10.2011)
Published in Blood (20.10.2011)
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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
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
Published in PLoS genetics (01.01.2012)
Published in PLoS genetics (01.01.2012)
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Journal Article
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts
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
Published in PLoS genetics (01.11.2007)
Published in PLoS genetics (01.11.2007)
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A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron
Melis, Maria Antonietta, Cau, Milena, Congiu, Rita, Sole, Gabriella, Barella, Susanna, Cao, Antonio, Westerman, Mark, Cazzola, Mario, Galanello, Renzo
Published in Haematologica (Roma) (01.10.2008)
Published in Haematologica (Roma) (01.10.2008)
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Heritability of cardiovascular and personality traits in 6,148 Sardinians
Pilia, Giuseppe, Chen, Wei-Min, Scuteri, Angelo, Orrú, Marco, Albai, Giuseppe, Dei, Mariano, Lai, Sandra, Usala, Gianluca, Lai, Monica, Loi, Paola, Mameli, Cinzia, Vacca, Loredana, Deiana, Manila, Olla, Nazario, Masala, Marco, Cao, Antonio, Najjar, Samer S, Terracciano, Antonio, Nedorezov, Timur, Sharov, Alexei, Zonderman, Alan B, Abecasis, Gonçalo R, Costa, Paul, Lakatta, Edward, Schlessinger, David
Published in PLoS genetics (01.08.2006)
Published in PLoS genetics (01.08.2006)
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Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin
SATTA, Stefania, PERSEU, Lucia, MOI, Paolo, ASUNIS, Isadora, CABRIOLU, Annalisa, MACCIONI, Liliana, ROSA DEMARTIS, Franca, MANUNZA, Laura, CAO, Antonio, GALANELLO, Renzo
Published in Haematologica (Roma) (01.05.2011)
Published in Haematologica (Roma) (01.05.2011)
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Journal Article
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
Marzella, Rosalia, Uda, Manuela, Rocchi, Mariano, Loi, Angela, Bonneau, Dominique, Cao, Antonio, Chiappe, Francesca, Gasparini, Paolo, Crisponi, Laura, Deiana, Manila, Schlessinger, David, Porcu, Susanna, Pilia, Giuseppe, Nicolino, Marc, Bisceglia, Luigi, Amati, Patrizia, Zelante, Leopoldo, Nagaraja, Ramaiah, Serafina Ristaldi, M, Lienhardt-Roussie, Anne, Nivelon, Annie, Verloes, Alain
Published in Nature genetics (01.02.2001)
Published in Nature genetics (01.02.2001)
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Klf1 Affects DNase II-Alpha Expression in the Central Macrophage of a Fetal Liver Erythroblastic Island: a Non-Cell-Autonomous Role in Definitive Erythropoiesis
Porcu, Susanna, Manchinu, Maria F., Marongiu, Maria F., Sogos, Valeria, Poddie, Daniela, Asunis, Isadora, Porcu, Loredana, Marini, Maria G., Moi, Paolo, Cao, Antonio, Grosveld, Frank, Ristaldi, Maria S.
Published in Molecular and Cellular Biology (01.10.2011)
Published in Molecular and Cellular Biology (01.10.2011)
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In vivo activation of the human δ-globin gene: the therapeutic potential in β-thalassemic mice
Manchinu, Maria F, Marongiu, Maria F, Poddie, Daniela, Casu, Carla, Latini, Veronica, Simbula, Michela, Galanello, Renzo, Moi, Paolo, Cao, Antonio, Porcu, Susanna, Ristaldi, Maria S
Published in Haematologica (Roma) (01.01.2014)
Published in Haematologica (Roma) (01.01.2014)
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Journal Article
The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity
Marongiu, Mara, Deiana, Manila, Meloni, Alessandra, Marcia, Loredana, Puddu, Alessandro, Cao, Antonio, Schlessinger, David, Crisponi, Laura
Published in PloS one (02.03.2010)
Published in PloS one (02.03.2010)
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Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
Faà, Valeria, Incani, Federica, Meloni, Alessandra, Corda, Denise, Masala, Maddalena, Baffico, A.Maria, Seia, Manuela, Cao, Antonio, Rosatelli, M.Cristina
Published in The Journal of biological chemistry (30.10.2009)
Published in The Journal of biological chemistry (30.10.2009)
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Journal Article
Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1
Crisponi, Laura, Crisponi, Giangiorgio, Meloni, Alessandra, Toliat, Mohammad Reza, Nürnberg, Gudrun, Usala, Gianluca, Uda, Manuela, Masala, Marco, Höhne, Wolfgang, Becker, Christian, Marongiu, Mara, Chiappe, Francesca, Kleta, Robert, Rauch, Anita, Wollnik, Bernd, Strasser, Friedrich, Reese, Thomas, Jakobs, Cornelis, Kurlemann, Gerd, Cao, Antonio, Nürnberg, Peter, Rutsch, Frank
Published in American journal of human genetics (01.05.2007)
Published in American journal of human genetics (01.05.2007)
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Journal Article
Determination and stability of sex
Ottolenghi, Chris, Uda, Manuela, Crisponi, Laura, Omari, Shakib, Cao, Antonio, Forabosco, Antonino, Schlessinger, David
Published in BioEssays (01.01.2007)
Published in BioEssays (01.01.2007)
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Journal Article
High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs
Antonietta, Zappu, Olympia, Magli, Lepori, Maria Barbara, Valentina, Dessì, Stefania, Diana, Simona, Incollu, Emmanuel, Kanavakis, Polyxeni, Nicolaidou, Nina, Manolaki, Andreas, Fretzayas, Stefano, De Virgiliis, Antonio, Cao, Georgios, Loudianos
Published in Journal of pediatric gastroenterology and nutrition (01.09.2008)
Published in Journal of pediatric gastroenterology and nutrition (01.09.2008)
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Journal Article
Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28
Kwok, Pui-Yan, Taillon-Miller, Patricia, Bauer-Sardiña, Irma, Saccone, Nancy L, Putzel, Jenna, Laitinen, Tarja, Cao, Antonio, Kere, Juha, Pilia, Giuseppe, Rice, John P
Published in Nature genetics (01.07.2000)
Published in Nature genetics (01.07.2000)
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