Výsledky vyhľadávania - "Asunis, Isadora"

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia Autor Uda, Manuela, Galanello, Renzo, Sanna, Serena, Lettre, Guillaume, Sankaran, Vijay G, Chen, Weimin, Usala, Gianluca, Busonero, Fabio, Maschio, Andrea, Albai, Giuseppe, Piras, Maria Grazia, Sestu, Natascia, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Crisponi, Laura, Naitza, Silvia, Asunis, Isadora, Deiana, Manila, Nagaraja, Ramaiah, Perseu, Lucia, Satta, Stefania, Cipollina, Maria Dolores, Sollaino, Carla, Moi, Paolo, Hirschhorn, Joel N, Orkin, Stuart H, Abecasis, Gonçalo R, Schlessinger, David, Cao, Antonio

“…beta-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought of as simple Mendelian…”
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miR-365-3p mediates BCL11A and SOX6 erythroid-specific coregulation: A new player in HbF activation Autor Simbula, Michela, Manchinu, Maria Francesca, Mingoia, Maura, Pala, Mauro, Asunis, Isadora, Caria, Cristian Antonio, Perseu, Lucia, Shah, Manan, Crossley, Merlin, Moi, Paolo, Ristaldi, Maria Serafina

“…Hemoglobin switching is a complex biological process not yet fully elucidated. The mechanism regulating the suppression of fetal hemoglobin (HbF) expression is…”
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Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin Autor Satta, S., Perseu, L., Moi, P., Asunis, I., Cabriolu, A., Maccioni, L., Demartis, F. R., Manunza, L., Cao, A., Galanello, R.

“…The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic…”
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Klf1 Affects DNase II-Alpha Expression in the Central Macrophage of a Fetal Liver Erythroblastic Island: a Non-Cell-Autonomous Role in Definitive Erythropoiesis Autor Porcu, Susanna, Manchinu, Maria F., Marongiu, Maria F., Sogos, Valeria, Poddie, Daniela, Asunis, Isadora, Porcu, Loredana, Marini, Maria G., Moi, Paolo, Cao, Antonio, Grosveld, Frank, Ristaldi, Maria S.

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Vitamin D Responsive Elements within the HLA-DRB1 Promoter Region in Sardinian Multiple Sclerosis Associated Alleles Autor Cocco, Eleonora, Meloni, Alessandra, Murru, Maria Rita, Corongiu, Daniela, Tranquilli, Stefania, Fadda, Elisabetta, Murru, Raffaele, Schirru, Lucia, Secci, Maria Antonietta, Costa, Gianna, Asunis, Isadora, Cuccu, Stefania, Fenu, Giuseppe, Lorefice, Lorena, Carboni, Nicola, Mura, Gioia, Rosatelli, Maria Cristina, Marrosu, Maria Giovanna

“…Vitamin D response elements (VDREs) have been found in the promoter region of the MS-associated allele HLA-DRB1*15:01, suggesting that with low vitamin D…”
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Overexpression of the Cytokine BAFF and Autoimmunity Risk Autor Steri, Maristella, Orrù, Valeria, Idda, M. Laura, Pitzalis, Maristella, Pala, Mauro, Zara, Ilenia, Sidore, Carlo, Faà, Valeria, Floris, Matteo, Deiana, Manila, Asunis, Isadora, Porcu, Eleonora, Mulas, Antonella, Piras, Maria G, Lobina, Monia, Lai, Sandra, Marongiu, Mara, Serra, Valentina, Marongiu, Michele, Sole, Gabriella, Busonero, Fabio, Maschio, Andrea, Cusano, Roberto, Cuccuru, Gianmauro, Deidda, Francesca, Poddie, Fausto, Farina, Gabriele, Dei, Mariano, Virdis, Francesca, Olla, Stefania, Satta, Maria A, Pani, Mario, Delitala, Alessandro, Cocco, Eleonora, Frau, Jessica, Coghe, Giancarlo, Lorefice, Lorena, Fenu, Giuseppe, Ferrigno, Paola, Ban, Maria, Barizzone, Nadia, Leone, Maurizio, Guerini, Franca R, Piga, Matteo, Firinu, Davide, Kockum, Ingrid, Lima Bomfim, Izaura, Olsson, Tomas, Alfredsson, Lars, Suarez, Ana, Carreira, Patricia E, Castillo-Palma, Maria J, Marcus, Joseph H, Congia, Mauro, Angius, Andrea, Melis, Maurizio, Gonzalez, Antonio, Alarcón Riquelme, Marta E, da Silva, Berta M, Marchini, Maurizio, Danieli, Maria G, Del Giacco, Stefano, Mathieu, Alessandro, Pani, Antonello, Montgomery, Stephen B, Rosati, Giulio, Hillert, Jan, Sawcer, Stephen, D’Alfonso, Sandra, Todd, John A, Novembre, John, Abecasis, Gonçalo R, Whalen, Michael B, Marrosu, Maria G, Meloni, Alessandra, Sanna, Serena, Gorospe, Myriam, Schlessinger, David, Fiorillo, Edoardo, Zoledziewska, Magdalena, Cucca, Francesco

“…Genetic analysis revealed a gene variant in the Sardinian population that was associated with autoimmune disease. In the variant gene, a deletion yielded a…”
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A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome Autor Mingoia, Maura, Meloni, Alessandra, Sedda, Silvia, Choufani, Sanaa, Asunis, Isadora, Gemma, Giorgia, Ammendola, Antonio, Torabi‐Marashi, Arteen, Venere, Eleonora, Squeo, Gabriella Maria, Rallo, Vincenzo, Marini, Maria Giuseppina, Moi, Paolo, Savasta, Salvatore, Weksberg, Rosanna, Merla, Giuseppe, Angius, Andrea

“…ABSTRACT Despite the massive adoption of sequencing technologies, disease‐specific diagnosis remains challenging, particularly for genes with highly homologous…”
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Induction of therapeutic levels of HbF in genome‐edited primary β039‐thalassaemia haematopoietic stem and progenitor cells Autor Mingoia, Maura, Caria, Cristian A., Ye, Lin, Asunis, Isadora, Marongiu, M. Franca, Manunza, Laura, Sollaino, M. Carla, Wang, Jiaming, Cabriolu, Annalisa, Kurita, Ryo, Nakamura, Yukio, Cucca, Francesco, Kan, Yuet W., Marini, M. Giuseppina, Moi, Paolo

“…Summary Hereditary persistence of fetal haemoglobin (HPFH) is the major modifier of the clinical severity of β‐thalassaemia. The homozygous mutation c.‐196 C>T…”
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Deficiency in interferon type 1 receptor improves definitive erythropoiesis in Klf1 null mice Autor Manchinu, Maria Francesca, Brancia, Carla, Caria, Cristian Antonio, Musu, Ester, Porcu, Susanna, Simbula, Michela, Asunis, Isadora, Perseu, Lucia, Ristaldi, Maria Serafina

“…A key regulatory gene in definitive erythropoiesis is the transcription factor Krüppel-like factor 1 (Klf1) . Klf1 null mice die in utero by day 15.5 (E15.5)…”
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Induction of therapeutic levels of HbF in genome-edited primary β0 39-thalassaemia haematopoietic stem and progenitor cells Autor Mingoia, Maura, Caria, Cristian A, Ye, Lin, Asunis, Isadora, Marongiu, M Franca, Manunza, Laura, Sollaino, M Carla, Wang, Jiaming, Cabriolu, Annalisa, Kurita, Ryo, Nakamura, Yukio, Cucca, Francesco, Kan, Yuet W, Marini, M Giuseppina, Moi, Paolo

“…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…”
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A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia Autor Busonero, Fabio, Steri, Maristella, Orrù, Valeria, Sole, Gabriella, Olla, Stefania, Marongiu, Michele, Maschio, Andrea, Sidore, Carlo, Lai, Sandra, Mulas, Antonella, Zoledziewska, Magdalena, Floris, Matteo, Pala, Mauro, Forabosco, Paola, Asunis, Isadora, Pitzalis, Maristella, Deidda, Francesca, Masala, Marco, Caria, Cristian Antonio, Barella, Susanna, Abecasis, Goncalo R., Schlessinger, David, Sanna, Serena, Fiorillo, Edoardo, Cucca, Francesco

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Novel action of FOXL2 as mediator of Col1a2 gene autoregulation Autor 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 belongs to the evolutionarily conserved forkhead box (FOX) superfamily and is a master transcription factor in a spectrum of developmental pathways,…”
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Induction of therapeutic levels of HbF in genome‐edited primary β 0 39‐thalassaemia haematopoietic stem and progenitor cells Autor Mingoia, Maura, Caria, Cristian A., Ye, Lin, Asunis, Isadora, Marongiu, M. Franca, Manunza, Laura, Sollaino, M. Carla, Wang, Jiaming, Cabriolu, Annalisa, Kurita, Ryo, Nakamura, Yukio, Cucca, Francesco, Kan, Yuet W., Marini, M. Giuseppina, Moi, Paolo

“…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…”
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Regulation of the human HBA genes by KLF4 in erythroid cell lines Autor Marini, M. Giuseppina, Porcu, Loredana, Asunis, Isadora, Loi, M. Giuseppina, Ristaldi, M. Serafina, Porcu, Susanna, Ikuta, Tohru, Cao, Antonio, Moi, Paolo

“…Summary KLF1/EKLF and related Krueppel‐like factors (KLFs) are variably implicated in the regulation of the HBB‐like globin genes. Prompted by the observation…”
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A novel silent β‐thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF Autor Moi, Paolo, Faà, Valeria, Marini, Maria Giuseppina, Asunis, Isadora, Ibba, Giuseppe, Cao, Antonio, Rosatelli, Maria Cristina

“…Summary The silent β‐thalassemia mutation, β+‐101C→T, is the only mutation currently described in the distal β‐globin CACCC box. We present a novel mutation, a…”
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The distal β-globin CACCC box is required for maximal stimulation of the β-globin gene by EKLF Autor Marini, Maria Giuseppina, Asunis, Isadora, Porcu, Loredana, Salgo, Maria Giulia

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A novel silent [beta]-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF Autor Moi, Paolo, Faà, Valeria, Marini, Maria Giuseppina, Asunis, Isadora

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The distal β‐globin CACCC box is required for maximal stimulation of the β‐globin gene by EKLF Autor Marini, Maria Giuseppina, Asunis, Isadora, Porcu, Loredana, Salgo, Maria Giulia, Loi, Maria Giuseppina, Brucchietti, Arianna, Cao, Antonio, Moi, Paolo

“…Summary The transcription factor erythroid Kruppel‐like factor (EKLF) specifically activates the β‐globin gene by interacting with the proximal β‐globin CACCC…”
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Cloning MafF by Recognition Site Screening with the NFE2 Tandem Repeat of HS2: Analysis of Its Role in Globin and GCSl Genes Regulation Autor Marini, M.Giuseppina, Asunis, Isadora, Chan, Kaimin, Chan, Jefferson Y., Kan, Yuet W., Porcu, Loredana, Cao, Antonio, Moi, Paolo

“…ABSTRACT The erythroid-specific enhancer within hypersensitivity site 2 (HS2) of the human β-globin locus control region is required for high level globin gene…”
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