DEIANA, MANILA
DEIANA, MANILA
Istituto di Ricerca Genetica e Biomedica - IRGB
Substituted 2-pyrrolinone compounds as inhibitors of B-cell activating factor (BAFF) for autoimmune diseases treatment
2025 Olla, Stefania; Idda, Maria Laura; Deiana, Manila; Lodde, Valeria; Delogu, Giuseppe; Caria, Antonio Cristian; Floris, Matteo; Cucca, Francesco
Erratum: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (The American Journal of Human Genetics (2016) 99(1) (236-245) (S0002929716301616) (10.1016/j.ajhg.2016.05.026))
2018 Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M.E.; Okur, Ilyas; Boduroglu, Koray; Utine, Gülen Eda; Klç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Overexpression of the Cytokine BAFF and Autoimmunity Risk
2017 Steri, M.; Orru, V.; Idda, M. L.; Pitzalis, M.; Pala, M.; Zara, I.; Sidore, C.; Faa, Valeria; Floris, M.; Deiana, Manila.; Asunis, I.; Porcu, E.; Mulas, A.; Piras, Maria Grazia; Lobina, Monia; Lai, Sandra; Marongiu, Mara.; Serra, Valentina; Marongiu, Michele.; Sole, Gabriella.; Busonero, F.; Maschio, A.; Cusano, R.; Cuccuru, G.; Deidda, F.; Poddie, F.; Farina, G.; Dei, M.; Virdis, F.; Olla, S.; Satta, Maria A.; Pani, Mario; Delitala, A.; Cocco, E.; Frau, J.; Coghe, G.; Lorefice, L.; Fenu, G.; Ferrigno, P.; Ban, M.; Barizzone, N.; Leone, M.; Guerini, F. R.; Piga, M.; Firinu, D.; Kockum, I.; Bomfim, I. Lima; Olsson, T.; Alfredsson, L.; Suarez, A.; Carreira, P. E.; Castillo-Palma, M. J.; Marcus, J. H.; Congia, M.; Angius, A.; Melis, M.; Gonzalez, A.; Riquelme, M. E. A.; da Silva, B. M.; Marchini, M.; Danieli, M. G.; Del Giacco, S.; Mathieu, A.; Pani, Antonello; Montgomery, S. B.; Rosati, G.; Hillert, J.; Sawcer, S.; D'Alfonso, S.; Todd, J. A.; Novembre, J.; Abecasis, G. R.; Whalen, M. B.; Marrosu, M. G.; Meloni, Alessandra; Sanna, Serena; Gorospe, M.; Schlessinger, D.; Fiorillo, Edoardo; Zoledziewska, M.; Cucca, F.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
2016 Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay Hatice, Tuba; Inan, Sibel; El Assy, Osama; Smit Leo, M E; Okur, Ilyas; Boduroglu, Koray; Utine Gulen, Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Novel action of FOXL2 as mediator of Col1a2 gene autoregulation
2016 Marongiu, Mara; Deiana, Manila; Marcia, Loredana; Sbardellati, Andrea; Asunis, Isadora; Meloni, Alessandra; Angius, Andrea; Cusano, Roberto; Loi, Angela; Crobu, Francesca; Fotia, Giorgio; Cucca, Francesco; Schlessinger, David; Crisponi, Laura
FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice
2015 Marongiu, Mara; Marcia, Loredana; Pelosi, Emanuele; Lovicu, Mario; Deiana, Manila; Zhang, Yonqing; Puddu, Alessandro; Loi, Angela; Uda, Manuela; Forabosco, Antonino; Schlessinger, David; Crisponi, Laura
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders
2011 Herholz, Jana; Meloni, Alessandra; Marongiu, Mara; Chiappe, Francesca; Chiappe, Francesca; Deiana, Manila; Herrero Carmen, Roche; Zampino, Giuseppe; Hamamy, Hanan; Zalloum, Yusra; Waaler Per, Erik; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity.
2010 Mara Marongiu,; Manila Deiana,; Alessandra Meloni,; Loredana Marcia,; Alessandro Puddu,,; Antonio Cao,; David Schlessinger,; Laura Crisponi
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
Identification of ten loci associated with height highlights new biological pathways in human growth
2008 Lettre, Guillaume; Jackson, Anne U.; Gieger, Christian; Schumacher, Fredrick R.; Berndt, Sonja I.; Sanna, Serena; Eyheramendy, Susana; Voight, Benjamin F.; Butler, Johannah L.; Guiducci, Candace; Illig, Thomas; Hackett, Rachel; Heid, Iris M.; Jacobs, Kevin B.; Lyssenko, Valeriya; Uda, Manuela; Boehnke, Michael; Chanock, Stephen J.; Groop, Leif C.; Frank B., Hu; Isomaa, Bo; Kraft, Peter; Peltonen, Leena; Salomaa, Veikko; Schlessinger, David; Hunter, David J.; Hayes, Richard B.; Abecasis, Goncalo R.; Wichmann, H-Erich; Mohlke, Karen L.; Hirschhorn, ; Joel, N.; Uda, Manuela; Albai, Giuseppe; Scuteri, Angelo; Argiolas, Marcello; Balloi, Monica; Busonero, Fabio; Cau, Anna; Valeria Cerchi, M.; Crisponi, Laura; D’Aquila, Marina; Dei, Mariano; Deiana, Barbara; Deiana, Manila; Ferreli, Liana; Figus, Pietro; Fois, Danilo; Lai, Monica; Lai, Sandra; Loi, Francesco; Loi, Paola; Masala, Marco; Maschio, Andrea; Muggianu, Massimo; Mulas, Antonella; Naitza, Silvia; Olla, Nazario; Orrú, Marco; Grazia Pilia, M.; Piras, MARIA GRAZIA; Sestu, Natascia; Cristina Spada, M.; Usala, Gianluca; Cao, Antonio
Heritability of cardiovascular and personality traits in 6,148 Sardinians.
2006 Pilia, G; Chen, Weimin; Scuteri, A; Orru, M; Albai, G; Dei, M; Lai, S; Usala, G; Lai, M; Loi, P; Mameli, C; Vacca, L; Deiana, M; Olla, N; Masala, M; Cao, A; Najjar, Ss; Terracciano, A; Nedorezov, Tt; Sharov, A; B Zonderman, A; Abecasis, Gr; Costa, P; Lakatta, E; Schlessinger, D
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
2004 Uda, Manuela; Ottolenghi, Chris; Crisponi, Laura; Elias Garcia, Jose; Deiana, Manila; Kimber, Wendy; Forabosco, Antonino; Cao, Antonio; Schlessinger, David; Pilia, Giuseppe
FOXL2 inactivation by a translocation 171 kb away: Analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences
2004 Crisponi, Laura; Uda, Manuela; Uda, Manuela; Deiana, Manila; Loi, Angela; Nagaraja, Ramaiah; Chiappe, Francesca; Schlessinger, David; Cao, Antonio; Pilia, Giuseppe
Overgrowth of a mouse model of the Simpson - Golabi - Behmel syndrome is independent of IGF signaling
2002 Chiao, Eric; Fisher, Peter; Crisponi, Laura; Deiana, Manila; Dragatsis, Ioannis; Schlessinger, David; Pilia, Giuseppe; Efstratiadis, Argiris
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
2001 Crisponi, L; Deiana, M; Loi, A; Chiappe, F; Uda, M; Amati, P; Bisceglia, L; Zelante, L; Nagaraja, R; Porcu, S; Ristaldi, MARIA SERAFINA; Marzella, R; Rocchi, M; Nicolino, M; Lienhardt-Roussie, A; Nivelon, A; Verloes, A; Schlessinger, D; Gasparini, P; Bonneau, D; Cao, A; Pilia, G
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients
1996 G Loudianos; V Dessì; A Angius; M Lovicu; A Loi; M Deiana; N Akar; P Vairo; A Figus; A Cao; M Pirastu.
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
1995 Correction Figus, Annalena; Angius, Andrea; Loudianos, Georgios; Bertini, Chiara; Dessi, Valeria; Loi, Angela; Deiana, Manila; Lovicu, Mario; Olla, Nazario; Sole, Gabriella; De Virgiliis, Stefano; Lilliu, Franco; Farci Anna Maria, Giulia; Nurchi, Annamaria; Giacchino, Raffaella; Barabino, Arrigo; Marazzi, Maria; Zancan, Lucia; Greggio Nella, A; Marcellini, Matilde; Solinas, Antonello; Deplano, Angelo; Barbera, Cristiana; Devoto, Marcella; Ozsoylu, Sinasi; Kocak, Nurten; Akar, Nejat; Karayalcin, Selin; Mokini, Vahe; Cullufi, Paskal; Balestrieri, Angelo; Cao, Antonio; Cao, Antonio; Pirastu, Mario
Improvement of prenatal diagnosis of Wilson disease using microsatellite markers.
1994 Loudianos, G; Figus, Al; Loi, A; Angius, A; Dessì, V; Deiana, M; Devirgiliis, S; Monni, G; Cao, A; Pirastu, M
beta-thalassemia in the Italian population
1992 Pirastu, M; Loudianos, G; Murru, S; Ristaldi, Ms; Cossu, P; Pilia, G; Porcu, S; Vaccargiu, S; Casu, R; Deiana, M; Cao, A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Substituted 2-pyrrolinone compounds as inhibitors of B-cell activating factor (BAFF) for autoimmune diseases treatment | 1-gen-2025 | Olla, Stefania; Idda, Maria Laura; Deiana, Manila; Lodde, Valeria; Delogu, Giuseppe; Caria, Antonio Cristian; Floris, Matteo; Cucca, Francesco | |
| Erratum: Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (The American Journal of Human Genetics (2016) 99(1) (236-245) (S0002929716301616) (10.1016/j.ajhg.2016.05.026)) | 1-gen-2018 | Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M.E.; Okur, Ilyas; Boduroglu, Koray; Utine, Gülen Eda; Klç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| Overexpression of the Cytokine BAFF and Autoimmunity Risk | 1-gen-2017 | Steri, M.; Orru, V.; Idda, M. L.; Pitzalis, M.; Pala, M.; Zara, I.; Sidore, C.; Faa, Valeria; Floris, M.; Deiana, Manila.; Asunis, I.; Porcu, E.; Mulas, A.; Piras, Maria Grazia; Lobina, Monia; Lai, Sandra; Marongiu, Mara.; Serra, Valentina; Marongiu, Michele.; Sole, Gabriella.; Busonero, F.; Maschio, A.; Cusano, R.; Cuccuru, G.; Deidda, F.; Poddie, F.; Farina, G.; Dei, M.; Virdis, F.; Olla, S.; Satta, Maria A.; Pani, Mario; Delitala, A.; Cocco, E.; Frau, J.; Coghe, G.; Lorefice, L.; Fenu, G.; Ferrigno, P.; Ban, M.; Barizzone, N.; Leone, M.; Guerini, F. R.; Piga, M.; Firinu, D.; Kockum, I.; Bomfim, I. Lima; Olsson, T.; Alfredsson, L.; Suarez, A.; Carreira, P. E.; Castillo-Palma, M. J.; Marcus, J. H.; Congia, M.; Angius, A.; Melis, M.; Gonzalez, A.; Riquelme, M. E. A.; da Silva, B. M.; Marchini, M.; Danieli, M. G.; Del Giacco, S.; Mathieu, A.; Pani, Antonello; Montgomery, S. B.; Rosati, G.; Hillert, J.; Sawcer, S.; D'Alfonso, S.; Todd, J. A.; Novembre, J.; Abecasis, G. R.; Whalen, M. B.; Marrosu, M. G.; Meloni, Alessandra; Sanna, Serena; Gorospe, M.; Schlessinger, D.; Fiorillo, Edoardo; Zoledziewska, M.; Cucca, F. | |
| Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa | 1-gen-2016 | Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay Hatice, Tuba; Inan, Sibel; El Assy, Osama; Smit Leo, M E; Okur, Ilyas; Boduroglu, Koray; Utine Gulen, Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| Novel action of FOXL2 as mediator of Col1a2 gene autoregulation | 1-gen-2016 | Marongiu, Mara; Deiana, Manila; Marcia, Loredana; Sbardellati, Andrea; Asunis, Isadora; Meloni, Alessandra; Angius, Andrea; Cusano, Roberto; Loi, Angela; Crobu, Francesca; Fotia, Giorgio; Cucca, Francesco; Schlessinger, David; Crisponi, Laura | |
| FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice | 1-gen-2015 | Marongiu, Mara; Marcia, Loredana; Pelosi, Emanuele; Lovicu, Mario; Deiana, Manila; Zhang, Yonqing; Puddu, Alessandro; Loi, Angela; Uda, Manuela; Forabosco, Antonino; Schlessinger, David; Crisponi, Laura | |
| Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders | 1-gen-2011 | Herholz, Jana; Meloni, Alessandra; Marongiu, Mara; Chiappe, Francesca; Chiappe, Francesca; Deiana, Manila; Herrero Carmen, Roche; Zampino, Giuseppe; Hamamy, Hanan; Zalloum, Yusra; Waaler Per, Erik; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank | |
| The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. | 1-gen-2010 | Mara Marongiu,; Manila Deiana,; Alessandra Meloni,; Loredana Marcia,; Alessandro Puddu,,; Antonio Cao,; David Schlessinger,; Laura Crisponi | |
| 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 | |
| Identification of ten loci associated with height highlights new biological pathways in human growth | 1-gen-2008 | Lettre, Guillaume; Jackson, Anne U.; Gieger, Christian; Schumacher, Fredrick R.; Berndt, Sonja I.; Sanna, Serena; Eyheramendy, Susana; Voight, Benjamin F.; Butler, Johannah L.; Guiducci, Candace; Illig, Thomas; Hackett, Rachel; Heid, Iris M.; Jacobs, Kevin B.; Lyssenko, Valeriya; Uda, Manuela; Boehnke, Michael; Chanock, Stephen J.; Groop, Leif C.; Frank B., Hu; Isomaa, Bo; Kraft, Peter; Peltonen, Leena; Salomaa, Veikko; Schlessinger, David; Hunter, David J.; Hayes, Richard B.; Abecasis, Goncalo R.; Wichmann, H-Erich; Mohlke, Karen L.; Hirschhorn, ; Joel, N.; Uda, Manuela; Albai, Giuseppe; Scuteri, Angelo; Argiolas, Marcello; Balloi, Monica; Busonero, Fabio; Cau, Anna; Valeria Cerchi, M.; Crisponi, Laura; D’Aquila, Marina; Dei, Mariano; Deiana, Barbara; Deiana, Manila; Ferreli, Liana; Figus, Pietro; Fois, Danilo; Lai, Monica; Lai, Sandra; Loi, Francesco; Loi, Paola; Masala, Marco; Maschio, Andrea; Muggianu, Massimo; Mulas, Antonella; Naitza, Silvia; Olla, Nazario; Orrú, Marco; Grazia Pilia, M.; Piras, MARIA GRAZIA; Sestu, Natascia; Cristina Spada, M.; Usala, Gianluca; Cao, Antonio | |
| Heritability of cardiovascular and personality traits in 6,148 Sardinians. | 1-gen-2006 | Pilia, G; Chen, Weimin; Scuteri, A; Orru, M; Albai, G; Dei, M; Lai, S; Usala, G; Lai, M; Loi, P; Mameli, C; Vacca, L; Deiana, M; Olla, N; Masala, M; Cao, A; Najjar, Ss; Terracciano, A; Nedorezov, Tt; Sharov, A; B Zonderman, A; Abecasis, Gr; Costa, P; Lakatta, E; Schlessinger, D | |
| Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. | 1-gen-2004 | Uda, Manuela; Ottolenghi, Chris; Crisponi, Laura; Elias Garcia, Jose; Deiana, Manila; Kimber, Wendy; Forabosco, Antonino; Cao, Antonio; Schlessinger, David; Pilia, Giuseppe | |
| FOXL2 inactivation by a translocation 171 kb away: Analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences | 1-gen-2004 | Crisponi, Laura; Uda, Manuela; Uda, Manuela; Deiana, Manila; Loi, Angela; Nagaraja, Ramaiah; Chiappe, Francesca; Schlessinger, David; Cao, Antonio; Pilia, Giuseppe | |
| Overgrowth of a mouse model of the Simpson - Golabi - Behmel syndrome is independent of IGF signaling | 1-gen-2002 | Chiao, Eric; Fisher, Peter; Crisponi, Laura; Deiana, Manila; Dragatsis, Ioannis; Schlessinger, David; Pilia, Giuseppe; Efstratiadis, Argiris | |
| The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. | 1-gen-2001 | Crisponi, L; Deiana, M; Loi, A; Chiappe, F; Uda, M; Amati, P; Bisceglia, L; Zelante, L; Nagaraja, R; Porcu, S; Ristaldi, MARIA SERAFINA; Marzella, R; Rocchi, M; Nicolino, M; Lienhardt-Roussie, A; Nivelon, A; Verloes, A; Schlessinger, D; Gasparini, P; Bonneau, D; Cao, A; Pilia, G | |
| Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients | 1-gen-1996 | G Loudianos; V Dessì; A Angius; M Lovicu; A Loi; M Deiana; N Akar; P Vairo; A Figus; A Cao; M Pirastu. | |
| Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations | 1-gen-1995 | Correction Figus, Annalena; Angius, Andrea; Loudianos, Georgios; Bertini, Chiara; Dessi, Valeria; Loi, Angela; Deiana, Manila; Lovicu, Mario; Olla, Nazario; Sole, Gabriella; De Virgiliis, Stefano; Lilliu, Franco; Farci Anna Maria, Giulia; Nurchi, Annamaria; Giacchino, Raffaella; Barabino, Arrigo; Marazzi, Maria; Zancan, Lucia; Greggio Nella, A; Marcellini, Matilde; Solinas, Antonello; Deplano, Angelo; Barbera, Cristiana; Devoto, Marcella; Ozsoylu, Sinasi; Kocak, Nurten; Akar, Nejat; Karayalcin, Selin; Mokini, Vahe; Cullufi, Paskal; Balestrieri, Angelo; Cao, Antonio; Cao, Antonio; Pirastu, Mario | |
| Improvement of prenatal diagnosis of Wilson disease using microsatellite markers. | 1-gen-1994 | Loudianos, G; Figus, Al; Loi, A; Angius, A; Dessì, V; Deiana, M; Devirgiliis, S; Monni, G; Cao, A; Pirastu, M | |
| beta-thalassemia in the Italian population | 1-gen-1992 | Pirastu, M; Loudianos, G; Murru, S; Ristaldi, Ms; Cossu, P; Pilia, G; Porcu, S; Vaccargiu, S; Casu, R; Deiana, M; Cao, A |