310 research outputs found
A novel missense mutation (C84R) in a patient with type II vitamin D-dependent rickets
No full textA 7-year-old boy with severe rickets that by clinical analysis was diagnosed as affected by type II vitamin D-dependent rickets, was evaluated for mutations in the vitamin D receptor gene (VDR). The molecular analysis showed a homozygous state for a novel missense mutation (C84R) in a highly conserved nucleotide in the second Zn finger of the DNA binding domain
"Si tout sujet est portrait” : figurations du moi dans Le Monde désert de Jouve et La Mort difficile de Crevel
No full textThe analysis of two novels from the 1920s selected as emblematic cases – Le Monde désert by Jouve and La Mort difficile by Crevel – leads the author to point out the connections between the figuration of the subject in literature and the portrait in painting. Indeed, the survival of the portrait itself as a pictorial genre can be seen as a sign of its involvement in the enquiry of identity and subjectivity. This article describes the three main axes that organise subjectivity as a portrait: the fluctuation between stasis and movement, the relational dimension and the fictional one. The portrait becomes the ideal model of a subject conceived as the result of a creative process. Hence, painting is not to be considered a mere narrative theme but a key to the interpretation of the novels and a metaphor of the construction of the subject
«Una strania fenice». Marco Santagata: gli studi, le opere
No full textIl libro raccoglie contributi sulla figura e le opere di Marco Santagata, italianista e scrittore. Ne sono autori Annalisa Andreoni, Gian Mario Anselmi, Gabriele Baldassari, Roberto Barbolini, Pietro G. Beltrami, Claudia Berra, Alberto Bertoni, Laura Bosio, Cristiana Brunelli, Alberto Casadei, Roberta Cella, Michele Feo, Francesco Ferretti, Gianfranco Fioravanti, Serena Fornasiero, Christian Genetelli, Klaus W. Hempfer, Giuseppe Indizio, Vincenzo Manca, Grazia Melli, Cristina Montagnani, Matteo Palumbo, Laura Paolino, Diego Quaglioni, Amedeo Quondam, Gerhard Regn, Laura Regnicoli, Francisco Rico, Raffaele Ruggiero, Gino Ruozzi, Salvatore Settis, Silvana Tamiozzo, Chiara Tognarelli, Paola Vecchi Galli, Tiziano Zanato. Chiude il volume la Bibliografia degli scritti di Marco Santagata.
Marco Santagata (Zocca, 28 aprile 1947 ‒ Pisa, 9 novembre 2020) è stato studioso di letteratura italiana e romanziere. A lungo docente all’Università di Pisa, è autore di studi fondamentali su Petrarca – culminati nel commento al Canzoniere (1996, 20042) –, su Dante, Boccaccio, la poesia del Quattrocento e Boiardo, e sulla tradizione lirica fino a Leopardi, Pascoli e d’Annunzio. A ciò ha affiancato una felice produzione narrativa: tra i suoi romanzi Il copista (2000), Il maestro dei santi pallidi (2002, Premio Campiello 2003), L'amore in sé (2006, Premio Stresa), Come donna innamorata (2015, finalista al Premio Strega). La sua poliedrica natura di intellettuale impegnato e curioso del mondo lo ha portato anche ad occuparsi attivamente di politica culturale e universitaria e di divulgazione.The book collects contributions on the figure and works of Marco Santagata, scholar of Italian literature and novelist. The authors are Annalisa Andreoni, Gian Mario Anselmi, Gabriele Baldassari, Roberto Barbolini, Pietro G. Beltrami, Claudia Berra, Alberto Bertoni, Laura Bosio, Cristiana Brunelli, Alberto Casadei, Roberta Cella, Michele Feo, Francesco Ferretti, Gianfranco Fioravanti, Serena Fornasiero, Christian Genetelli, Klaus W. Hempfer, Giuseppe Indizio, Vincenzo Manca, Grazia Melli, Cristina Montagnani, Matteo Palumbo, Laura Paolino, Diego Quaglioni, Amedeo Quondam, Gerhard Regn, Laura Regnicoli, Francisco Rico, Raffaele Ruggiero, Gino Ruozzi, Salvatore Settis, Silvana Tamiozzo, Chiara Tognarelli, Paola Vecchi Galli, Tiziano Zanato. The volume closes with the Bibliography of Marco Santagata's writings.
Marco Santagata (Zocca (Modena), 28 April 1947 ‒ Pisa, 9 November 2020) was a scholar of Italian literature and novelist. Long a professor at the University of Pisa, he is the author of fundamental studies on Petrarch - culminating in the commentary on the "Canzoniere" (1996, 20042) -, on Dante, Boccaccio, fifteenth-century poetry and Boiardo, and on the lyric tradition up to Leopardi, Pascoli and d'Annunzio. Alongside this he has a successful narrative production: among his novels "Il copista" (2000), "Il maestro dei santi pallidi" (2002, Campiello Prize 2003), "L'amore in sé" (2006, Stresa Prize), "Come donna innamorata" (2015, finalist for the Strega Prize). His multifaceted nature as a engaged intellectual has also led him to actively deal with cultural and university politics and dissemination
Sviluppo di vettori virali per la terapia genica della β−Talassemia
No full textBeta−thalassemia major is a severe congenital anemi for which there is presently no curative therapy other than allogeneic hematopoietic stem cell transplantation. This therapeutic option, however, applies only to the minority of thalassemia patients who have an HLA−matched bone marrow donor. Gene therapy by the delivery of a regulated globin gene to autologous hematopoietic stem cells is an attractive alternative approach as it is in principle applicable to all thalassemic subjects. Current vectors, althougheffective in correcting thalassemia in murine models still suffer some drawbacks in terms of safety and also in terms of low titer and expression. The aim of this study was to assemble globin vectors improved in both these aspects. Modifications of the globin cassette in the intron2 and in the LCR of the beta-‐globin gene can increase the expression of the globin gene without reducing the vector titer. We also examine the variegation in the expression among the different pools of transduce cells and we suppose that the presence of sequences with chromatin opening activity among the segments of b-‐globin IVS
CORRIGENDUM to The mechanisms of acute interstitial nephritis in the era of immune checkpoint inhibitors in melanoma
No full textIn this article, the authors’ first names and surnames were incorrectly listed in the wrong order. The correct author list is: Marco Tucci, Anna Passarelli, Annalisa Todisco, Francesco Mannavola, Luigia Stefania Stucci, Stella D’Oronzo, Michele Rossini, Marco Taurisano, Loreto Gesualdo and Franco Silvestris
The Climate Show:Episode 27: Conceptualizing just transition litigation
No full textIn this episode, Assistant Professor Linnéa Nordlander speaks to Professor Annalisa Savaresi from the University of Eastern Finland about the phenomenon of just transition litigation. The episode focuses on the article ‘Conceptualizing just transition litigation’, published in Nature Sustainability, of which Professor Savaresi is the lead author and Linnéa Nordlander is among the co-authors
Storie postcoloniali
No full textan essay on the rewriting of history in the work of postcolonial author
THE ROLE OF THE FIRM IN FIGHTING POVERTY DURING THE PANDEMIC: THE ITALIAN SYNERGY OF BARILLA-CARITAS
No full textThe aim of this research is to study firms as a means of distribution, and not only of production, of wealth. In crisis and emergency situations, such as the one caused by the COVID-19 pandemic,
a particularly serious problem of growing and widespread poverty emerges. The author believes that
in these situations the ethical function of firms becomes central. This function can be carried out effectively not only through the efficient management of the firm, but also through ethical actions, as the
creation of alliances and synergies between businesses and the Church, which help the processes of
distribution of wealth in society, in general, and in the weaker social classes in particular
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin
No full textThe 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 the beta globin gene cluster, have been identified in patients and in normal individuals. Monoallelic loss of KLF1, a gene with a key role in erythropoiesis, has been recently reported to be responsible for persistence of high levels of fetal hemoglobin. In a Sardinian family, high levels of HbF (22.1-30.9%) were present only in compound heterozygotes for the S270X nonsense and K332Q missense mutations, while the isolated S270X nonsense (haploinsufficiency) or K332Q missense mutation were associated with normal HbF levels (<1.5%). Functionally, the K332Q Klf1 mutation impairs binding to the BCl11A gene and activation of the γ- and β-globin promoters. Moreover, we report for the first time the association of KLF1 mutations with very high levels of zinc protoporphyrin
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