Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Susanna Porcu"'
Autor:
Cristian Antonio Caria, Valeria Faà, Susanna Porcu, Maria Franca Marongiu, Daniela Poddie, Lucia Perseu, Alessandra Meloni, Simona Vaccargiu, Maria Serafina Ristaldi
Publikováno v:
Cells, Vol 13, Iss 14, p 1185 (2024)
Genome-Wide Association Studies (GWASs) have identified a huge number of variants associated with different traits. However, their validation through in vitro and in vivo studies often lags well behind their identification. For variants associated wi
Externí odkaz:
https://doaj.org/article/0b700535df7343d8989c1b50f31757c8
Autor:
Marcello Trucas, Sabrina Burattini, Susanna Porcu, Michela Simbula, Maria Serafina Ristaldi, Marta Anna Kowalik, Maria Pina Serra, Pietro Gobbi, Michela Battistelli, Andrea Perra, Marina Quartu
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 13, p 10452 (2023)
Sickle cell disease (SCD) is caused by the homozygous beta-globin gene mutation that can lead to ischemic multi-organ damage and consequently reduce life expectancy. On the other hand, sickle cell trait (SCT), the heterozygous beta-globin gene mutati
Externí odkaz:
https://doaj.org/article/e72d73a7ac3444c4824daa694339a2ff
Autor:
Maria Francesca Manchinu, Michela Simbula, Cristian Antonio Caria, Ester Musu, Lucia Perseu, Susanna Porcu, Maristella Steri, Daniela Poddie, Jessica Frau, Eleonora Cocco, Laura Manunza, Susanna Barella, Maria Serafina Ristaldi
Publikováno v:
Frontiers in Medicine, Vol 7 (2020)
Beta hemoglobinopathies are widely spread monogenic lethal diseases. Delta-globin gene activation has been proposed as a possible approach for curing these pathologies. The therapeutic potential of delta-globin, the non-alpha component of Hemoglobin
Externí odkaz:
https://doaj.org/article/479296ddec6e4e198f5c7a062e4db411
Autor:
Maria F. Manchinu, Maria F. Marongiu, Daniela Poddie, Carla Casu, Veronica Latini, Michela Simbula, Renzo Galanello, Paolo Moi, Antonio Cao, Susanna Porcu, Maria S. Ristaldi
Publikováno v:
Haematologica, Vol 99, Iss 1 (2014)
β-thalassemia and sickle cell disease are widespread fatal genetic diseases. None of the existing clinical treatments provides a solution for all patients. Two main strategies for treatment are currently being investigated: (i) gene transfer of a no
Externí odkaz:
https://doaj.org/article/37993b6140f64f22918b4339e0a47ccd
Autor:
Maria Franca Marongiu, Daniela Poddie, Susanna Porcu, Maria Francesca Manchinu, Maria Paola Castelli, Valeria Sogos, Valentina Bini, Roberto Frau, Elisabetta Caredda, Maria Collu, Maria Serafina Ristaldi
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e35013 (2012)
Although several genes are implicated in the pathogenesis of schizophrenia, in animal models for such a severe mental illness only some aspects of the pathology can be represented (endophenotypes). Genetically modified mice are currently being used t
Externí odkaz:
https://doaj.org/article/c8b6ee1b2799450db521d7424621541f
Autor:
Cristian Antonio Caria, Daniela Poddie, Marta Anna Kowalik, Michela Simbula, Susanna Barella, Andrea Perra, Lucia Perseu, Maria F. Marongiu, Roberto Littera, Susanna Porcu, Franca Rosa Demartis, Maria Serafina Ristaldi
Publikováno v:
British Journal of Haematology. 193:1228-1237
Sickle cell disease (SCD) is a widespread genetic disease associated with severe disability and multi-organ damage, resulting in a reduced life expectancy. None of the existing clinical treatments provide a solution for all patients. Gene therapy and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::725405bc573b6042c46ebeb1f4ad55d0
https://doi.org/10.1111/bjh.17561
https://doi.org/10.1111/bjh.17561
Autor:
Susanna Porcu, Daniela Poddie, Susanna Barella, Maria Francesca Manchinu, Laura Manunza, Michela Simbula, Cristian Antonio Caria, Lucia Perseu, Eleonora Cocco, Jessica Frau, Maristella Steri, Ester Musu, Maria Serafina Ristaldi
Publikováno v:
Frontiers in Medicine
Frontiers in Medicine, Vol 7 (2020)
Frontiers in Medicine, Vol 7 (2020)
Beta hemoglobinopathies are widely spread monogenic lethal diseases. Delta-globin gene activation has been proposed as a possible approach for curing these pathologies. The therapeutic potential of delta-globin, the non-alpha component of Hemoglobin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a1fe74db5fdde8e93aa34e689040bb2
http://europepmc.org/articles/PMC7256663
http://europepmc.org/articles/PMC7256663
Autor:
Susanna Porcu, Dubravka Drabek, Maria F. Marongiu, Antonio Cao, Daniela Poddie, Maria Serafina Ristaldi, Ton de Wit
Publikováno v:
British Journal of Haematology, 173(5), 794-797. Wiley-Blackwell Publishing Ltd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c393a266c7c9582d112b2a2ffa3419d
https://doi.org/10.1111/bjh.13636
https://doi.org/10.1111/bjh.13636
Autor:
Cristian Antonio Caria, Susanna Porcu, Isadora Asunis, Ester Musu, Lucia Perseu, Maria Serafina Ristaldi, Carla Brancia, Maria Francesca Manchinu, Michela Simbula
Publikováno v:
Cell death and differentiation. 25(3)
A key regulatory gene in definitive erythropoiesis is the transcription factor Kruppel-like factor 1 (Klf1). Klf1 null mice die in utero by day 15.5 (E15.5) due to impaired definitive erythropoiesis and severe anemia. Definitive erythropoiesis takes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f96a45f08a722c18fed9a443215d70ca
https://pubmed.ncbi.nlm.nih.gov/29230002
https://pubmed.ncbi.nlm.nih.gov/29230002
Autor:
Valeria Sogos, Maria Francesca Manchinu, Susanna Porcu, Loredana Porcu, Isadora Asunis, Daniela Poddie, Paolo Moi, Maria Franca Marongiu, Frank Grosveld, Maria Serafina Ristaldi, Maria Giuseppina Marini, Antonio Cao
Publikováno v:
Molecular and Cellular Biology, 31(19), 4144-4154. American Society for Microbiology
A key regulatory gene in definitive erythropoiesis is the erythroid Kruppel-like factor (Eklf or Klf1). Klf1 knockout (KO) mice die in utero due to severe anemia, while residual circulating red blood cells retain their nuclei. Dnase2a is another crit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5b2564ae28ab4bcda5639d0c4fe56e4
https://doi.org/10.1128/MCB.05532-11
https://doi.org/10.1128/MCB.05532-11