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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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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miR-365-3p mediates BCL11A and SOX6 erythroid-specific coregulation: A new player in HbF activation
Simbula, Michela, Manchinu, Maria Francesca, Mingoia, Maura, Pala, Mauro, Asunis, Isadora, Caria, Cristian Antonio, Perseu, Lucia, Shah, Manan, Crossley, Merlin, Moi, Paolo, Ristaldi, Maria Serafina
Published in Molecular therapy. Nucleic acids (12.12.2023)
Published in Molecular therapy. Nucleic acids (12.12.2023)
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Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion
DANJOU, Fabrice, ANNI, Franco, PERSEU, Lucia, SATTA, Stefania, DESSI, Carlo, LAI, Maria Eliana, FORTINA, Paolo, DEVOTO, Marcella, GALANELLO, Renzo
Published in Haematologica (Roma) (01.07.2012)
Published in Haematologica (Roma) (01.07.2012)
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Post-GWAS Validation of Target Genes Associated with HbF and HbA2 Levels
Caria, Cristian Antonio, Faà, Valeria, Porcu, Susanna, Marongiu, Maria Franca, Poddie, Daniela, Perseu, Lucia, Meloni, Alessandra, Vaccargiu, Simona, Ristaldi, Maria Serafina
Published in Cells (Basel, Switzerland) (12.07.2024)
Published in Cells (Basel, Switzerland) (12.07.2024)
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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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A genetic score for the prediction of beta-thalassemia severity
Danjou, Fabrice, Francavilla, Marcella, Anni, Franco, Satta, Stefania, Demartis, Franca-Rosa, Perseu, Lucia, Manca, Matteo, Sollaino, Maria Carla, Manunza, Laura, Mereu, Elisabetta, Marceddu, Giuseppe, Pissard, Serge, Joly, Philippe, Thuret, Isabelle, Origa, Raffaella, Borg, Joseph, Forni, Gian Luca, Piga, Antonio, Lai, Maria Eliana, Badens, Catherine, Moi, Paolo, Galanello, Renzo
Published in Haematologica (Roma) (01.04.2015)
Published in Haematologica (Roma) (01.04.2015)
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Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia
CARLA SOLLAINO, Maria, ELISABETTA PAGLIETTI, Maria, PERSEU, Lucia, GIAGU, Nicolina, LOI, Daniela, GALANELIO, Renzo
Published in Haematologica (Roma) (01.10.2009)
Published in Haematologica (Roma) (01.10.2009)
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Delta-Globin Gene Expression Is Enhanced in vivo by Interferon Type I
Manchinu, Maria Francesca, Simbula, Michela, Caria, Cristian Antonio, Musu, Ester, Perseu, Lucia, Porcu, Susanna, Steri, Maristella, Poddie, Daniela, Frau, Jessica, Cocco, Eleonora, Manunza, Laura, Barella, Susanna, Ristaldi, Maria Serafina
Published in Frontiers in medicine (22.05.2020)
Published in Frontiers in medicine (22.05.2020)
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Journal Article
KLF1 gene mutations cause borderline HbA(2)
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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Seventy-five genetic loci influencing the human red blood cell
Zhang, Weihua, Sehmi, Joban, Paul, Dirk S., Allayee, Hooman, Li, Xinzhong, Tan, Sian-Tsung, Voss, Katrin, Weichenberger, Christian X., Asselbergs, Folkert W., Franke, Lude, Gögele, Martin, Holm, Hilma, Hottenga, Jouke-Jan, Kleber, Marcus E., Lagou, Vasiliki, Langenberg, Claudia, Lopez, Lorna M., Lyytikäinen, Leo-Pekka, Melander, Olle, Murgia, Federico, Nolte, Ilja M., Porcu, Eleonora, Portas, Laura, Prokopenko, Inga, Ulivi, Sheila, Westra, Harm-Jan, Hua Zhao, Jing, Anni, Franco, Abdellaoui, Abdel, Attwood, Antony, Bastardot, François, Das, Debashish, Döring, Angela, Engström, Gunnar, Ingi Eyjolfsson, Gudmundur, Ferrucci, Luigi, Fischer, Krista, Garner, Stephen F., Gibson, Quince D., Girotto, Giorgia, Fannar Gudbjartsson, Daniel, Hastie, Claire E., Hedblad, Bo, Illig, Thomas, Jolley, Jennifer, Kema, Ido P., Lloyd-Jones, Heather, Meisinger, Christa, Memari, Yasin, Mihailov, Evelin, Nauck, Matthias, Nutile, Teresa, Parracciani, Debora, Penninx, Brenda W., Perseu, Lucia, Piga, Antonio, Pistis, Giorgio, Puc, Ursula, Ring, Susan M., Robino, Antonietta, Saint-Pierre, Aude, Salumets, Andres, Schepers, Hein, Smit, Johannes H., Starr, John M., Stephens, Jonathan, Sulem, Patrick, Tanaka, Toshiko, Tragante, Vinicius, van Gilst, Wiek H., Joost van Pelt, L., van Veldhuisen, Dirk J., Winkelmann, Bernhard R., Cucca, Francesco, Elliott, Paul, Fortina, Paolo, Froguel, Philippe, Gasparini, Paolo, Maerz, Winfried, Moore, Carmel, Pirastu, Mario, Ramirez-Solis, Ramiro, Schadt, Eric, Shuldiner, Alan R., Davey Smith, George, Gustav Smith, J., Sorice, Rossella, Spector, Tim D., Stefansson, Kari, Tönjes, Anke, Wolffenbuttel, Bruce H. R., Boomsma, Dorret I., Dedoussis, George V., Deloukas, Panos, Ferreira, Manuel A., Martin Penninger, Josef, Gieger, Christian, Kooner, Jaspal S., Ouwehand, Willem H., Soranzo, Nicole
Published in Nature (London) (20.12.2012)
Published in Nature (London) (20.12.2012)
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Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels
Danjou, Fabrice, Zoledziewska, Magdalena, Sidore, Carlo, Steri, Maristella, Busonero, Fabio, Maschio, Andrea, Mulas, Antonella, Perseu, Lucia, Barella, Susanna, Porcu, Eleonora, Pistis, Giorgio, Pitzalis, Maristella, Pala, Mauro, Menzel, Stephan, Metrustry, Sarah, Spector, Timothy D, Leoni, Lidia, Angius, Andrea, Uda, Manuela, Moi, Paolo, Thein, Swee Lay, Galanello, Renzo, Abecasis, Gonçalo R, Schlessinger, David, Sanna, Serena, Cucca, Francesco
Published in Nature genetics (01.11.2015)
Published in Nature genetics (01.11.2015)
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Delta‐globin gene expression improves sickle cell disease in a humanised mouse model
Porcu, Susanna, Simbula, Michela, Marongiu, Maria F., Perra, Andrea, Poddie, Daniela, Perseu, Lucia, Kowalik, Marta A., Littera, Roberto, Barella, Susanna, Caria, Cristian A., Demartis, Franca R., Ristaldi, Maria S.
Published in British journal of haematology (01.06.2021)
Published in British journal of haematology (01.06.2021)
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Deficiency in interferon type 1 receptor improves definitive erythropoiesis in Klf1 null mice
Manchinu, Maria Francesca, Brancia, Carla, Caria, Cristian Antonio, Musu, Ester, Porcu, Susanna, Simbula, Michela, Asunis, Isadora, Perseu, Lucia, Ristaldi, Maria Serafina
Published in Cell death and differentiation (01.03.2018)
Published in Cell death and differentiation (01.03.2018)
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Post-GWAS Validation of Target Genes Associated with HbF and HbA[sub.2] Levels
Caria, Cristian Antonio, Faà, Valeria, Porcu, Susanna, Marongiu, Maria Franca, Poddie, Daniela, Perseu, Lucia, Meloni, Alessandra, Vaccargiu, Simona, Ristaldi, Maria Serafina
Published in Cells (Basel, Switzerland) (01.07.2024)
Published in Cells (Basel, Switzerland) (01.07.2024)
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Post-GWAS Validation of Target Genes Associated with HbF and HbA 2 Levels
Caria, Cristian Antonio, Faà, Valeria, Porcu, Susanna, Marongiu, Maria Franca, Poddie, Daniela, Perseu, Lucia, Meloni, Alessandra, Vaccargiu, Simona, Ristaldi, Maria Serafina
Published in Cells (Basel, Switzerland) (12.07.2024)
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Published in Cells (Basel, Switzerland) (12.07.2024)
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Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation
Satta, Stefania, Perseu, Lucia, Maccioni, Liliana, Giagu, Nicolina, Galanello, Renzo
Published in Blood cells, molecules, & diseases (15.01.2012)
Published in Blood cells, molecules, & diseases (15.01.2012)
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Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
Sanna, Serena, Busonero, Fabio, Maschio, Andrea, McArdle, Patrick F., Usala, Gianluca, Dei, Mariano, Lai, Sandra, Mulas, Antonella, Piras, Maria Grazia, Perseu, Lucia, Masala, Marco, Marongiu, Mara, Crisponi, Laura, Naitza, Silvia, Galanello, Renzo, Abecasis, Gonçalo R., Shuldiner, Alan R., Schlessinger, David, Cao, Antonio, Uda, Manuela
Published in Human molecular genetics (15.07.2009)
Published in Human molecular genetics (15.07.2009)
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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
Waye, John S, Riemer, Cathy, Gallivan, Monica V E, Kollia, Panagoula, Galanello, Renzo, Perseu, Lucia, Anstee, David J, Faustino, Paula, Harteveld, Cornelis L, Hoyer, James D, Peterson, Kenneth R, Giordano, Piero C, Stojiljkovic, Maja, Schrijver, Iris, Thein, Swee Lay, Gibbons, Richard J, Jarvis, Martin, Hardison, Ross C, Maglott, Donna, Francina, Alain, Borg, Joseph, Wada, Takahito, Basak, A Nazli, Giardine, Belinda, Pavlovic, Sonja, Costa, Flavia C, Papadopoulos, Petros, Old, John, Philipsen, Sjaak, Menzel, Stephan, Higgs, Douglas R, Radmilovic, Milena, Wajcman, Henri, Patrinos, George P, Fedosyuk, Halyna, Georgitsi, Marianthi, Traeger-Synodinos, Jan, Papadakis, Manoussos N, Joly, Philippe, Papachatzopoulou, Adamantia, Tully, Ray, Miller, Webb, Zukic, Branka, Felice, Alex E, Kanavakis, Emmanuel, Singleton, Belinda K, Wiemann, Claudia, Moradkhani, Kamran, Satta, Stefania, Clark, Barnaby, Chui, David H K
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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Journal Article
New analytical tools and epidemiological data for the identification of HbA2 borderline subjects in the screening for beta-thalassemia
Mosca, Andrea, Paleari, Renata, Galanello, Renzo, Sollaino, Carla, Perseu, Lucia, Demartis, Franca Rosa, Passarello, Cristina, Giambona, Antonino, Maggio, Aurelio
Published in Bioelectrochemistry (Amsterdam, Netherlands) (01.08.2008)
Published in Bioelectrochemistry (Amsterdam, Netherlands) (01.08.2008)
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