PERSEU, LUCIA
PERSEU, LUCIA
Istituto di Ricerca Genetica e Biomedica - IRGB
Post-GWAS Validation of Target Genes Associated with HbF and HbA2 Levels
2024 Caria, Cristian Antonio; Faà, Valeria; Porcu, Susanna; Marongiu, Maria Franca; Poddie, Daniela; Perseu, Lucia; Meloni, Alessandra; Vaccargiu, Simona; Ristaldi, Maria Serafina
Delta-globin gene expression improves sickle cell disease in a humanised mouse model
2021 Porcu, Susanna; Simbula, Michela; F Marongiu, Maria; Perra, Andrea; Poddie, Daniela; Perseu, Lucia; A Kowalik, Marta; Littera, Roberto; Barella, Susanna; A Caria, Cristian; R Demartis, Franca; S Ristaldi, Maria
Delta-Globin Gene Expression Is Enhanced in vivo by Interferon Type I
2020 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
Deficiency in interferon type 1 receptor improves definitive erythropoiesis in Klf1 null mice
2017 Manchinu, Maria Francesca; Brancia, Carla; Caria, Cristian Antonio; Musu, Ester; Porcu, Susanna; Simbula, Michela; Asunis, Isadora; Perseu, Lucia; Ristaldi, Maria Serafina
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels
2015 Danjou, F; Zoledziewska, M; Sidore, C; Steri, M; Busonero, F; Maschio, A; Mulas, A; Perseu, L; Barella, S; Porcu, E; Pistis, G; Pitzalis, M; Pala, M; Menzel, S; Metrustry, S; Spector, Td; Leoni, L; Angius, A; Uda, M; Moi, P; Thein, Sl; Galanello, R; Abecasis, Gr; Schlessinger, D; Sanna, S; Cucca, F
Seventy-five genetic loci influencing the human red blood cell
2012 Pim van der Harst; Weihua Zhang; Irene Mateo Leach; Augusto Rendon; Niek Verweij; Joban Sehmi; Dirk S. Paul; Ulrich Elling; Hooman Allayee; Xinzhong Li; Aparna Radhakrishnan; SianTsung Tan; Katrin Voss; Christian X. Weichenberger; Cornelis A. Albers; Abtehale AlHussani; Folkert W. Asselbergs; Marina Ciullo; Fabrice Danjou; Christian Dina; Tõnu Esko; David M. Evans; Lude Franke; Martin Gögele; Jaana Hartiala; Micha Hersch; Hilma Holm; JoukeJan Hottenga; Stavroula Kanoni; Marcus E. Kleber; Vasiliki Lagou; Claudia Langenberg; Lorna M. Lopez; LeoPekka Lyytikäinen; Olle Melander; Federico Murgia; Ilja M. Nolte; Paul F. O'Reilly; Sandosh Padmanabhan; Afshin Parsa; Nicola Pirastu; Eleonora Porcu; Laura Portas; Inga Prokopenko; Janina S. Ried; SoYoun Shin; Clara S. Tang; Alexander Teumer; Michela Traglia; Sheila Ulivi; HarmJan Westra; Jian Yang; Jing Hua Zhao; Franco Anni; Abdel Abdellaoui; Antony Attwood; Beverley Balkau; Stefania Bandinelli; François Bastardot; Beben Benyamin; Bernhard O. Boehm; William O. Cookson; Debashish Das; Paul I. W. de Bakker; Rudolf A. de Boer; Eco J. C. de Geus; Marleen H. de Moor; Maria Dimitriou; Francisco S. Domingues; Angela Döring; Gunnar Engström; Gudmundur Ingi Eyjolfsson; Luigi Ferrucci; Krista Fischer; Renzo Galanello; Stephen F. Garner; Bernd Genser; Quince D. Gibson; Giorgia Girotto; Daniel Fannar Gudbjartsson; Sarah E. Harris; AnnaLiisa Hartikainen; Claire E. Hastie; Bo Hedblad; Thomas Illig; Jennifer Jolley; Mika Kähönen; Ido P. Kema; John P. Kemp; Liming Liang; Heather LloydJones; Ruth J. F. Loos; Stuart Meacham; Sarah E. Medland; Christa Meisinger; Yasin Memari; Evelin Mihailov; Kathy Miller; Miriam F. Moffatt; Matthias Nauck; Maria Novatchkova; Teresa Nutile; Isleifur Olafsson; Pall T. Onundarson; Debora Parracciani; Brenda W. Penninx; Lucia Perseu; Antonio Piga; Giorgio Pistis; Anneli Pouta; Ursula Puc; Olli Raitakari; Susan M. Ring; Antonietta Robino; Daniela Ruggiero; Aimo Ruokonen; Aude SaintPierre; Cinzia Sala; Andres Salumets; Jennifer Sambrook; Hein Schepers; Carsten Oliver Schmidt; Herman H. W. Silljé; Rob Sladek; Johannes H. Smit; John M. Starr; Jonathan Stephens; Patrick Sulem; Toshiko Tanaka; Unnur Thorsteinsdottir; Vinicius Tragante; Wiek H. van Gilst; L. Joost van Pelt; Dirk J. van Veldhuisen; Uwe Völker; John B. Whitfield; Gonneke Willemsen; Bernhard R. Winkelmann; Gerald Wirnsberger; Ale Algra; Francesco Cucca; Adamo Pio d'Adamo; John Danesh; Ian J. Deary; Anna F. Dominiczak; Paul Elliott; Paolo Fortina; Philippe Froguel; Paolo Gasparini; Andreas Greinacher; Stanley L. Hazen; MarjoRiitta Jarvelin; Kay Tee Khaw; Terho Lehtimäki; Winfried Maerz; Nicholas G. Martin; Andres Metspalu; Braxton D. Mitchell; Grant W. Montgomery; Carmel Moore; Gerjan Navis; Mario Pirastu; Peter P. Pramstaller; Ramiro RamirezSolis; Eric Schadt; James Scott; Alan R. Shuldiner; George Davey Smith; J. Gustav Smith; Harold Snieder; Rossella Sorice; Tim D. Spector; Kari Stefansson; Michael Stumvoll; W. H. Wilson Tang; Daniela Toniolo; Anke Tönjes; Peter M. Visscher; Peter Vollenweider; Nicholas J. Wareham; Bruce H. R. Wolffenbuttel; Dorret I. Boomsma; Jacques S. Beckmann; George V. Dedoussis; Panos Deloukas; Manuel A. Ferreira; Serena Sanna; Manuela Uda; Andrew A. Hicks; Josef Martin Penninger; Christian Gieger; Jaspal S. Kooner; Willem H. Ouwehand; Nicole Soranzo;John C. Chambers
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin
2011 Satta, S; Perseu, L; Moi, P; Asunis, I; Cabriolu, A; Maccioni, L; Demartis, Fr; Manunza, L; Cao, A; Galanello, R
Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation
2011 Batta, S; Perseu, L; Maccioni, L; Giagu, N; Galanello,
KLF1gene mutations cause borderline HbA2
2011 Lucia Perseu; Stefania Satta; Paolo Moi; Franca Rosa Demartis; Laura Manunza; Maria Carla Sollaino; Susanna Barella; Antonio Cao; Renzo Galanello ;
Relationship between neonatal screening results by HPLC and the number of ±-thalassaemia gene mutations; consequences for the cut-off value.
2011 Bouva MJ; Sollaino C; Perseu L; Galanello R; Giordano PC; Harteveld CL; Cnossen MH; Schielen PC; Elvers LH; Peters M.
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
2011 Giardine B; Galanello R; Perseu L;.Satta S et al
Red cell pyruvate Kinase deficiency in Southern Sardinia
2010 Perseu, L; Giagu, N; Satta, S; Sollaino, Mc; Congiu, R; Galanello, R
Amelioration of Sardinian beta-0 thalassemia by genetic modifiers
2009 Renzo Galanello; Serena Sanna; Lucia Perseu; Maria Carla Sollaino; Stefania Satta; Maria Eliana Lai; Susanna Barella; Manuela Uda; Gianluca Usala; Goncalo R. Abecasis;Antonio Cao
Association of alpha globin gene quadruplication and heterozygous beta thalassemia in patients with thalassemia intermedia
2009 Sollaino MC; Paglietti ME; Perseu L; Giagu N; Loi D; Galanello R
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
2009 Sanna, Serena; Busonero, Fabio; Maschio, Andrea; F McArdle, Patrick; Usala, Gianluca; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Piras, MARIA GRAZIA; Perseu, Lucia; Masala, Marco; Marongiu, Mara; Crisponi, Laura; Naitza, Silvia; Galanello, Renzo; R Abecasis, Gonçalo; R Shuldiner, Alan; Schlessinger, David; Cao, Antonio; Uda, Manuela
Analysis of candidate SNPs for high HbF in ² thalassemia intermedia patients.
2008 F. Anni; L. Perseu ; S. Satta; M. Bowser ; P. Fortina; M. Devoto; S. Surrey
Cholelithiasis in thalassemia major.
2008 Origa R; Galanello R; Perseu L; Tavazzi D; Domenica Cappellini M; Terenzani L; Forni GL; Quarta G; Boetti T; Piga A.
Genetic Modifiers of Homozygous Beta Zero Thalassemia
2008 R. Galanello;MD; Lucia Perseu; Maria Carla Sollaino; Stefania Satta; Manuela Uda; Gianluca Usala; Congalo Abecasis; David schlessinger;Antonio Cao
Genome-wide association scan for serum bilirubin levels in a Sardinian cohort.
2008 Uda, M; Sanna, S; Busonero, F; Piras, Mg; Usala, G; Maschio, A; Mulas, A; Dei, M; Slai, ; Sestu, N; Naitza, S; Crisponi, L; Masala, M; Cuccuru, G; Mmarongiu, ; Perseu, L; Rgalanello, ; Abecasis, Gr; Schlessinger, S; Acao,
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
2008 Manuela Uda; Renzo Galanello; Serena Sanna; Guillaume Lettre; Vijay G. Sankaran; Weimin Chen; Gianluca Usala; Fabio Busonero; Andrea Maschio; Giuseppe Albai; Maria Grazia Piras; Natascia Sestu; Sandra Lai; Mariano Dei; Antonella Mulas; Laura Crisponi; Silvia Naitza; Isadora Asunis; Manila Deiana; Ramaiah Nagaraja; Lucia Perseu; Stefania Satta; Maria Dolores Cipollina; Carla Sollaino; Paolo Moi; Joel N. Hirschhorn; Stuart H. Orkin; Gonçalo R. Abecasis; David Schlessinger;Antonio Cao
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Post-GWAS Validation of Target Genes Associated with HbF and HbA2 Levels | 1-gen-2024 | Caria, Cristian Antonio; Faà, Valeria; Porcu, Susanna; Marongiu, Maria Franca; Poddie, Daniela; Perseu, Lucia; Meloni, Alessandra; Vaccargiu, Simona; Ristaldi, Maria Serafina | |
| Delta-globin gene expression improves sickle cell disease in a humanised mouse model | 1-gen-2021 | Porcu, Susanna; Simbula, Michela; F Marongiu, Maria; Perra, Andrea; Poddie, Daniela; Perseu, Lucia; A Kowalik, Marta; Littera, Roberto; Barella, Susanna; A Caria, Cristian; R Demartis, Franca; S Ristaldi, Maria | |
| Delta-Globin Gene Expression Is Enhanced in vivo by Interferon Type I | 1-gen-2020 | 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 | |
| Deficiency in interferon type 1 receptor improves definitive erythropoiesis in Klf1 null mice | 1-gen-2017 | Manchinu, Maria Francesca; Brancia, Carla; Caria, Cristian Antonio; Musu, Ester; Porcu, Susanna; Simbula, Michela; Asunis, Isadora; Perseu, Lucia; Ristaldi, Maria Serafina | |
| Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels | 1-gen-2015 | Danjou, F; Zoledziewska, M; Sidore, C; Steri, M; Busonero, F; Maschio, A; Mulas, A; Perseu, L; Barella, S; Porcu, E; Pistis, G; Pitzalis, M; Pala, M; Menzel, S; Metrustry, S; Spector, Td; Leoni, L; Angius, A; Uda, M; Moi, P; Thein, Sl; Galanello, R; Abecasis, Gr; Schlessinger, D; Sanna, S; Cucca, F | |
| Seventy-five genetic loci influencing the human red blood cell | 1-gen-2012 | Pim van der Harst; Weihua Zhang; Irene Mateo Leach; Augusto Rendon; Niek Verweij; Joban Sehmi; Dirk S. Paul; Ulrich Elling; Hooman Allayee; Xinzhong Li; Aparna Radhakrishnan; SianTsung Tan; Katrin Voss; Christian X. Weichenberger; Cornelis A. Albers; Abtehale AlHussani; Folkert W. Asselbergs; Marina Ciullo; Fabrice Danjou; Christian Dina; Tõnu Esko; David M. Evans; Lude Franke; Martin Gögele; Jaana Hartiala; Micha Hersch; Hilma Holm; JoukeJan Hottenga; Stavroula Kanoni; Marcus E. Kleber; Vasiliki Lagou; Claudia Langenberg; Lorna M. Lopez; LeoPekka Lyytikäinen; Olle Melander; Federico Murgia; Ilja M. Nolte; Paul F. O'Reilly; Sandosh Padmanabhan; Afshin Parsa; Nicola Pirastu; Eleonora Porcu; Laura Portas; Inga Prokopenko; Janina S. Ried; SoYoun Shin; Clara S. Tang; Alexander Teumer; Michela Traglia; Sheila Ulivi; HarmJan Westra; Jian Yang; Jing Hua Zhao; Franco Anni; Abdel Abdellaoui; Antony Attwood; Beverley Balkau; Stefania Bandinelli; François Bastardot; Beben Benyamin; Bernhard O. Boehm; William O. Cookson; Debashish Das; Paul I. W. de Bakker; Rudolf A. de Boer; Eco J. C. de Geus; Marleen H. de Moor; Maria Dimitriou; Francisco S. Domingues; Angela Döring; Gunnar Engström; Gudmundur Ingi Eyjolfsson; Luigi Ferrucci; Krista Fischer; Renzo Galanello; Stephen F. Garner; Bernd Genser; Quince D. Gibson; Giorgia Girotto; Daniel Fannar Gudbjartsson; Sarah E. Harris; AnnaLiisa Hartikainen; Claire E. Hastie; Bo Hedblad; Thomas Illig; Jennifer Jolley; Mika Kähönen; Ido P. Kema; John P. Kemp; Liming Liang; Heather LloydJones; Ruth J. F. Loos; Stuart Meacham; Sarah E. Medland; Christa Meisinger; Yasin Memari; Evelin Mihailov; Kathy Miller; Miriam F. Moffatt; Matthias Nauck; Maria Novatchkova; Teresa Nutile; Isleifur Olafsson; Pall T. Onundarson; Debora Parracciani; Brenda W. Penninx; Lucia Perseu; Antonio Piga; Giorgio Pistis; Anneli Pouta; Ursula Puc; Olli Raitakari; Susan M. Ring; Antonietta Robino; Daniela Ruggiero; Aimo Ruokonen; Aude SaintPierre; Cinzia Sala; Andres Salumets; Jennifer Sambrook; Hein Schepers; Carsten Oliver Schmidt; Herman H. W. Silljé; Rob Sladek; Johannes H. Smit; John M. Starr; Jonathan Stephens; Patrick Sulem; Toshiko Tanaka; Unnur Thorsteinsdottir; Vinicius Tragante; Wiek H. van Gilst; L. Joost van Pelt; Dirk J. van Veldhuisen; Uwe Völker; John B. Whitfield; Gonneke Willemsen; Bernhard R. Winkelmann; Gerald Wirnsberger; Ale Algra; Francesco Cucca; Adamo Pio d'Adamo; John Danesh; Ian J. Deary; Anna F. Dominiczak; Paul Elliott; Paolo Fortina; Philippe Froguel; Paolo Gasparini; Andreas Greinacher; Stanley L. Hazen; MarjoRiitta Jarvelin; Kay Tee Khaw; Terho Lehtimäki; Winfried Maerz; Nicholas G. Martin; Andres Metspalu; Braxton D. Mitchell; Grant W. Montgomery; Carmel Moore; Gerjan Navis; Mario Pirastu; Peter P. Pramstaller; Ramiro RamirezSolis; Eric Schadt; James Scott; Alan R. Shuldiner; George Davey Smith; J. Gustav Smith; Harold Snieder; Rossella Sorice; Tim D. Spector; Kari Stefansson; Michael Stumvoll; W. H. Wilson Tang; Daniela Toniolo; Anke Tönjes; Peter M. Visscher; Peter Vollenweider; Nicholas J. Wareham; Bruce H. R. Wolffenbuttel; Dorret I. Boomsma; Jacques S. Beckmann; George V. Dedoussis; Panos Deloukas; Manuel A. Ferreira; Serena Sanna; Manuela Uda; Andrew A. Hicks; Josef Martin Penninger; Christian Gieger; Jaspal S. Kooner; Willem H. Ouwehand; Nicole Soranzo;John C. Chambers | |
| Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin | 1-gen-2011 | Satta, S; Perseu, L; Moi, P; Asunis, I; Cabriolu, A; Maccioni, L; Demartis, Fr; Manunza, L; Cao, A; Galanello, R | |
| Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation | 1-gen-2011 | Batta, S; Perseu, L; Maccioni, L; Giagu, N; Galanello, | |
| KLF1gene mutations cause borderline HbA2 | 1-gen-2011 | Lucia Perseu; Stefania Satta; Paolo Moi; Franca Rosa Demartis; Laura Manunza; Maria Carla Sollaino; Susanna Barella; Antonio Cao; Renzo Galanello ; | |
| Relationship between neonatal screening results by HPLC and the number of ±-thalassaemia gene mutations; consequences for the cut-off value. | 1-gen-2011 | Bouva MJ; Sollaino C; Perseu L; Galanello R; Giordano PC; Harteveld CL; Cnossen MH; Schielen PC; Elvers LH; Peters M. | |
| Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach | 1-gen-2011 | Giardine B; Galanello R; Perseu L;.Satta S et al | |
| Red cell pyruvate Kinase deficiency in Southern Sardinia | 1-gen-2010 | Perseu, L; Giagu, N; Satta, S; Sollaino, Mc; Congiu, R; Galanello, R | |
| Amelioration of Sardinian beta-0 thalassemia by genetic modifiers | 1-gen-2009 | Renzo Galanello; Serena Sanna; Lucia Perseu; Maria Carla Sollaino; Stefania Satta; Maria Eliana Lai; Susanna Barella; Manuela Uda; Gianluca Usala; Goncalo R. Abecasis;Antonio Cao | |
| Association of alpha globin gene quadruplication and heterozygous beta thalassemia in patients with thalassemia intermedia | 1-gen-2009 | Sollaino MC; Paglietti ME; Perseu L; Giagu N; Loi D; Galanello R | |
| Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia | 1-gen-2009 | Sanna, Serena; Busonero, Fabio; Maschio, Andrea; F McArdle, Patrick; Usala, Gianluca; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Piras, MARIA GRAZIA; Perseu, Lucia; Masala, Marco; Marongiu, Mara; Crisponi, Laura; Naitza, Silvia; Galanello, Renzo; R Abecasis, Gonçalo; R Shuldiner, Alan; Schlessinger, David; Cao, Antonio; Uda, Manuela | |
| Analysis of candidate SNPs for high HbF in ² thalassemia intermedia patients. | 1-gen-2008 | F. Anni; L. Perseu ; S. Satta; M. Bowser ; P. Fortina; M. Devoto; S. Surrey | |
| Cholelithiasis in thalassemia major. | 1-gen-2008 | Origa R; Galanello R; Perseu L; Tavazzi D; Domenica Cappellini M; Terenzani L; Forni GL; Quarta G; Boetti T; Piga A. | |
| Genetic Modifiers of Homozygous Beta Zero Thalassemia | 1-gen-2008 | R. Galanello;MD; Lucia Perseu; Maria Carla Sollaino; Stefania Satta; Manuela Uda; Gianluca Usala; Congalo Abecasis; David schlessinger;Antonio Cao | |
| Genome-wide association scan for serum bilirubin levels in a Sardinian cohort. | 1-gen-2008 | Uda, M; Sanna, S; Busonero, F; Piras, Mg; Usala, G; Maschio, A; Mulas, A; Dei, M; Slai, ; Sestu, N; Naitza, S; Crisponi, L; Masala, M; Cuccuru, G; Mmarongiu, ; Perseu, L; Rgalanello, ; Abecasis, Gr; Schlessinger, S; Acao, | |
| Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. | 1-gen-2008 | Manuela Uda; Renzo Galanello; Serena Sanna; Guillaume Lettre; Vijay G. Sankaran; Weimin Chen; Gianluca Usala; Fabio Busonero; Andrea Maschio; Giuseppe Albai; Maria Grazia Piras; Natascia Sestu; Sandra Lai; Mariano Dei; Antonella Mulas; Laura Crisponi; Silvia Naitza; Isadora Asunis; Manila Deiana; Ramaiah Nagaraja; Lucia Perseu; Stefania Satta; Maria Dolores Cipollina; Carla Sollaino; Paolo Moi; Joel N. Hirschhorn; Stuart H. Orkin; Gonçalo R. Abecasis; David Schlessinger;Antonio Cao |