Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Angela Polizzi"'
Autor:
Angela Polizzi, Riccardina Tesse, Teresa Santostasi, Anna Diana, Antonio Manca, Vito Paolo Logrillo, Maria Domenica Cazzato, Maria Giuseppa Pantaleo, Lucio Armenio
Publikováno v:
Genetics and Molecular Biology, Vol 34, Iss 3, Pp 416-420 (2011)
Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR
Externí odkaz:
https://doaj.org/article/2ab3bd9971924af790e5eecb91ae53c6
Autor:
Lorenzo Guerra, Anna Diana, Giuseppina Leonetti, Angela Polizzi, Massimo Conese, Maria Addolorata Mariggiò, Valeria Casavola, Maria Favia, Antonio Manca, Domenica De Venuto, Pasqualina Montemurro, Crescenzio Gallo
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 2398, p 2398 (2020)
International Journal of Molecular Sciences
Volume 21
Issue 7
International Journal of Molecular Sciences
Volume 21
Issue 7
The treatment of cystic fibrosis (CF) patients homozygous for the F508del mutation with Orkambi®
a combination of a corrector (lumacaftor) and a potentiator (ivacaftor) of the mutated CFTR protein, resulted in some amelioration of the respira
a combination of a corrector (lumacaftor) and a potentiator (ivacaftor) of the mutated CFTR protein, resulted in some amelioration of the respira
Autor:
Anna Diana, Stefano Castellani, Sante Di Gioia, Maria Favia, Angela Polizzi, Crescenzio Gallo, Massimo Conese, Susanna D’Oria, Maria Addolorata Mariggiò, A. Vinella, Domenica De Venuto, Giuseppina Leonetti, Lorenzo Guerra, Pasqualina Montemurro
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
The role of colony stimulating factors (CSFs) in cystic fibrosis (CF) circulating neutrophils has not been thoroughly evaluated, considering that the neutrophil burden of lung inflammation in these subjects is very high. The aim of this study was to
Autor:
Luigi Ratclif, Crescenzio Gallo, Teresa Santostasi, Maria Giuseppina Pantaleo, Anna Diana, Antonio Manca, Angela Polizzi, Giuseppina Leonetti, Massimo Conese, Danila Rosa Iusco
Publikováno v:
Journal of Human Genetics. 61:473-481
Few mutations in cis have been annotated for F508del homozygous patients. Southern Italy patients who at a first analysis appeared homozygous for the F508del mutation (n=63) or compound heterozygous for the F508del and another mutation in the cystic
Autor:
G. Mergni, Giovanna Pisi, Rita Padoan, Cesare Braggion, Angela Polizzi, Valeria Raia, Sergio Bella, Esterina Quattromano, Antonella Tosco, Stefania Sirianni, Manuela Seia, Cinzia Spaggiari, Rita Argentini, Natalia Cirilli, Elisabetta Bignamini, Daniela Brandino
Publikováno v:
The Journal of Pediatrics. 194:261-262
Autor:
Giuseppina Leonetti, Angela Polizzi, Maria Favia, Crescenzio Gallo, Antonio Manca, Stefano Castellani, Teresa Santostasi, Lorenzo Guerra, Pasqualina Montemurro, Valeria Casavola, Susanna D’Oria, Massimo Conese, Maria Addolorata Mariggiò
Publikováno v:
Pediatric pulmonology. 52(7)
Aim The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) potentiator ivacaftor (Kalydeco®) improves clinical outcome in G551D cystic fibrosis (CF) patients. Here, we have investigated whether ivacaftor has a clinical impact on non-G551D ga
Autor:
Lucio Armenio, Maria Giuseppa Pantaleo, Antonio Manca, Vito Paolo Logrillo, Riccardina Tesse, Angela Polizzi, Anna Diana, Teresa Santostasi, Maria Domenica Cazzato
Publikováno v:
Genetics and Molecular Biology, Volume: 34, Issue: 3, Pages: 416-420, Published: 2011
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 34, Iss 3, Pp 416-420 (2011)
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 34, Iss 3, Pp 416-420 (2011)
Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR
Autor:
Gian Luigi Marseglia, Angela Polizzi, Iolanda Chinellato, Fabio Cardinale, Teresa Santostasi, P. Trerotoli, M. S. Loffredo, Lucio Armenio, E. Nettis, Riccardina Tesse, D. di Monte
Publikováno v:
Scopus-Elsevier
Mannose-binding lectin (MBL) is a C-type soluble collectin involved in the innate immune response. Carriers of MBL gene variant alleles (MBLva) have decreased plasma concentrations of MBL and increased susceptibility to bacterial and viral infections
Autor:
Fabio Cardinale, Antonio Manca, Lucio Armenio, Ombretta Silecchia, Francesco De Robertis, Riccardina Tesse, Teresa Santostasi, Angela Polizzi, L. Mappa
Publikováno v:
Journal of Cystic Fibrosis. 7:329-332
We genotyped three polymorphisms of the promoter region of the interleukin-10 (IL-10) gene in 220 CF patients from the CF Center of Bari, and tested for an association between genetic variants of the cytokine and chronic airway colonization with Pseu
Autor:
Serguei Kozlov, Loredana Lorusso, Daniela Virgintino, Lynn Yoshida, Gianfranco Gennarini, Ferdinando Rossi, Antonella Bizzoca, Andrew J.W. Furley, Maria Tattoli, Angela Polizzi, Maura Buttiglione, Raffaele Cagiano
Publikováno v:
Development. 130:29-43
F3/contactin (CNTN1) and TAG-1 (CNTN2) are closely related axonal glycoproteins that are differentially regulated during development. In the cerebellar cortex TAG-1 is expressed first as granule cell progenitors differentiate in the premigratory zone