Výsledky vyhledávání - "Cristian A. Caria"

Akademický článek

Post-GWAS Validation of Target Genes Associated with HbF and HbA2 Levels

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

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Akademický článek

miR-365-3p mediates BCL11A and SOX6 erythroid-specific coregulation: A new player in HbF activation

Autor: Michela Simbula, Maria Francesca Manchinu, Maura Mingoia, Mauro Pala, Isadora Asunis, Cristian Antonio Caria, Lucia Perseu, Manan Shah, Merlin Crossley, Paolo Moi, Maria Serafina Ristaldi

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 34, Iss , Pp 102025- (2023)

Hemoglobin switching is a complex biological process not yet fully elucidated. The mechanism regulating the suppression of fetal hemoglobin (HbF) expression is of particular interest because of the positive impact of HbF on the course of diseases suc

Externí odkaz: https://doaj.org/article/51a79e8cc1744969890ec07116199680

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Akademický článek

Peripheral blood mononuclear cells reactivity in recent-onset type I diabetes patients is directed against the leader peptide of preproinsulin, GAD65271-285 and GAD65431-450

Autor: Rita D. Jores, Davide Baldera, Enrico Schirru, Sandro Muntoni, Rossano Rossino, Maria F. Manchinu, Maria F. Marongiu, Cristian A. Caria, Carlo Ripoli, Maria R. Ricciardi, Francesco Cucca, Mauro Congia

Publikováno v: Frontiers in Immunology, Vol 14 (2023)

IntroductionT cell reactivity against pancreatic autoantigens is considered one of the main contributors to the destruction of insulin-producing cells in type 1 diabetes (T1D). Over the years, peptide epitopes derived from these autoantigens have bee

Externí odkaz: https://doaj.org/article/603db48a463a46a28bd27389e101c4ca

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Akademický článek

Krüppel-Like Factor 1: A Pivotal Gene Regulator in Erythropoiesis

Autor: Cristian Antonio Caria, Valeria Faà, Maria Serafina Ristaldi

Publikováno v: Cells, Vol 11, Iss 19, p 3069 (2022)

Krüppel-like factor 1 (KLF1) plays a crucial role in erythropoiesis. In-depth studies conducted on mice and humans have highlighted its importance in erythroid lineage commitment, terminal erythropoiesis progression and the switching of globin genes

Externí odkaz: https://doaj.org/article/2dafb69982314c40bc92c7ceb852d1e6

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Akademický článek

Delta-Globin Gene Expression Is Enhanced in vivo by Interferon Type I

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

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Delta‐globin gene expression improves sickle cell disease in a humanised mouse model

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

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Induction of therapeutic levels of HbF in genome‐edited primary β 0 39‐thalassaemia haematopoietic stem and progenitor cells

Autor: Jiaming Wang, M Franca Marongiu, Maura Mingoia, Laura Manunza, Isadora Asunis, M. Giuseppina Marini, Yuet Wai Kan, Yukio Nakamura, Annalisa Cabriolu, Paolo Moi, Cristian Antonio Caria, Francesco Cucca, Lin Ye, Ryo Kurita, M Carla Sollaino

Publikováno v: British Journal of Haematology. 192:395-404

Hereditary persistence of fetal haemoglobin (HPFH) is the major modifier of the clinical severity of β-thalassaemia. The homozygous mutation c.-196 C>T in the Aγ-globin (HBG1) promoter, which causes Sardinian δβ0 -thalassaemia, is able to complet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::25570a076b4a3fd13c7ff90b74b570e4
https://doi.org/10.1111/bjh.17167

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Induction of therapeutic levels of HbF in genome-edited primary β

Autor: Maura, Mingoia, Cristian A, Caria, Lin, Ye, Isadora, Asunis, M Franca, Marongiu, Laura, Manunza, M Carla, Sollaino, Jiaming, Wang, Annalisa, Cabriolu, Ryo, Kurita, Yukio, Nakamura, Francesco, Cucca, Yuet W, Kan, M Giuseppina, Marini, Paolo, Moi

Publikováno v: British journal of haematologyReferences. 192(2)

Hereditary persistence of fetal haemoglobin (HPFH) is the major modifier of the clinical severity of β-thalassaemia. The homozygous mutation c.-196 CT in the Aγ-globin (HBG1) promoter, which causes Sardinian δβ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a8e4b16955645de8560b0a91220a72f2
https://pubmed.ncbi.nlm.nih.gov/33216968

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