Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Laura, Manunza"'
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:
Cristina Fugazza, Gloria Barbarani, Sudharshan Elangovan, Maria Giuseppina Marini, Serena Giolitto, Isaura Font-Monclus, Maria Franca Marongiu, Laura Manunza, John Strouboulis, Claudio Cantù, Fabio Gasparri, Silvia M.L. Barabino, Yukio Nakamura, Sergio Ottolenghi, Paolo Moi, Antonella Ellena Ronchi
Publikováno v:
Haematologica, Vol 106, Iss 2 (2020)
The human fetal γ-globin gene is repressed in the adult stage through complex regulatory mechanisms involving transcription factors and epigenetic modifiers. Reversing γ-globin repression, or maintaining its expression by manipulating regulatory me
Externí odkaz:
https://doaj.org/article/af11269233b64efbb274f4073ea87451
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
https://doi.org/10.1111/bjh.17167
Autor:
Serena Giolitto, Sergio Ottolenghi, Paolo Moi, Sudharshan Elangovan, Antonella Ronchi, Laura Manunza, Gloria Barbarani, Claudio Cantù, Isaura Font-Monclus, Silvia M.L. Barabino, Cristina Fugazza, John Strouboulis, Fabio Gasparri, Yukio Nakamura, Maria Giuseppina Marini, Maria Franca Marongiu
Publikováno v:
Haematologica
The human fetal γ-globin gene is repressed in the adult stage through complex regulatory mechanisms involving transcription factors and epigenetic modifiers. Reversing γ-globin repression, or maintaining its expression by manipulating regulatory me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1759b5a6a83a18cec68726a8c7cdadd3
http://europepmc.org/articles/PMC7849756
http://europepmc.org/articles/PMC7849756
Autor:
Fabrice Danjou, Marcella Francavilla, Franco Anni, Stefania Satta, Franca-Rosa Demartis, Lucia Perseu, Matteo Manca, Maria Carla Sollaino, Laura Manunza, Elisabetta Mereu, Giuseppe Marceddu, Serge Pissard, Philippe Joly, Isabelle Thuret, Raffaella Origa, Joseph Borg, Gian Luca Forni, Antonio Piga, Maria Eliana Lai, Catherine Badens, Paolo Moi, Renzo Galanello
Publikováno v:
Haematologica, Vol 100, Iss 4 (2015)
Clinical and hematologic characteristics of beta(β)-thalassemia are determined by several factors resulting in a wide spectrum of severity. Phenotype modulators are: HBB mutations, HBA defects and fetal hemoglobin production modulators (HBG2:g.−15
Externí odkaz:
https://doaj.org/article/f1eabfc6af1f4b9fb60af40c26ea9568
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
https://pubmed.ncbi.nlm.nih.gov/33216968
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:
Stefania Satta, Lucia Perseu, Paolo Moi, Isadora Asunis, Annalisa Cabriolu, Liliana Maccioni, Franca Rosa Demartis, Laura Manunza, Antonio Cao, Renzo Galanello
Publikováno v:
Haematologica, Vol 96, Iss 5 (2011)
The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic variants responsible for hereditary persistence of fetal hemoglobin, linked and not linked to t
Externí odkaz:
https://doaj.org/article/ddb2d457f7d14a08a46e112c95e16adb
Autor:
Raffaella Origa, Maria Franca Desogus, Laura Manunza, Maria Elisabetta Paglietti, Franca Rosa Demartis, Maria Carla Sollaino, Arianna Ventrella, Susanna Barella, Stefania Satta
Publikováno v:
Acta Haematologica. 135:193-199
Background: The increase in HbA2 is the most important parameter for the identification of thalassemia carriers. However, in routine screening for hemoglobinopathies, some cases are difficult to classify because the level of HbA2 is not typically ele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3c1d0727c3d1e2c572654b914faaca1
https://doi.org/10.1159/000442194
https://doi.org/10.1159/000442194
Autor:
Yunxiang Zhang, Ciprian Tomuleasa, Lihong Yang, Melissa Winfield, Maria Elisabetta Paglietti, Mounzer Agha, Dan Douer, Jianpin Zhou, Yanhui Jin, Alexandra Marculescu, Raffaella Origa, Xiaoli Cheng, Cheryl Tompkins, Arianna Ventrella, Giovanni Romanelli, Maria Carla Sollaino, Mingshan Wang, Sant-Rayn Pasricha, Jiong Hu, Müge Aydoğdu, Ruham Alshiekh-Nasany, Jing-Zhou Hou, Susanna Barella, Junmin Li, Rodolfo D. Cançado, Michael Boyiadzis, Ken Cheng, Paulo Caleb Junior Lima Santos, Anastasios Raptis, Xiaoyang Li, Edileide Correia, Ivana Gojo, Paula Fernanda Silva Fonseca, Stefania Satta, Alexandru Bardas, Claire Sheeran, Franca Rosa Demartis, Donald K. Bowden, Bhavana Bhatnagar, Anca Colita, Xiuping Hao, Druckerei Stückle, Jianqing Mi, Marly Maria Uellendahl Lopes, Laura Manunza, Hongming Zhu, C. Orban, Yingyu Wang, Kelly J. Norsworthy, Mary Guay, Antonio M. Esquinas, Weili Zhao, Maria Franca Desogus, Zeba N. Singh, Manuel Antonio Lescano, Roger E. Peverill, Haixiao Xie, Sidsel Christy Lindgaard, Stefan O. Ciurea, Annie Im, Satz Mengensatzproduktion, Alina Tanase
Publikováno v:
Acta Haematologica. 135:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf175a6e354a6bf1f87d1393a52444d2
https://doi.org/10.1159/000446059
https://doi.org/10.1159/000446059