Zobrazeno 1 - 10
of 26
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d1b2b50320e5c665f872001b4ef792b
https://www.mdpi.com/1422-0067/21/7/2398
https://www.mdpi.com/1422-0067/21/7/2398
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed90c7b075952b165bae8006bb011210
https://pubmed.ncbi.nlm.nih.gov/31506515
https://pubmed.ncbi.nlm.nih.gov/31506515
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ffb63b76eca2febf29dfd49e9c00fe
https://doi.org/10.1038/jhg.2016.15
https://doi.org/10.1038/jhg.2016.15
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a30e4f3c5cd13d30d1f0bd381545c72c
https://doi.org/10.1016/j.jpeds.2017.11.053
https://doi.org/10.1016/j.jpeds.2017.11.053
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89645a123669feb9f928bc08f7d0dd92
https://pubmed.ncbi.nlm.nih.gov/28445004
https://pubmed.ncbi.nlm.nih.gov/28445004
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60eb91bb5acad194684a4b85b999948c
https://doi.org/10.1590/s1415-47572011000300008
https://doi.org/10.1590/s1415-47572011000300008
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562dc90f3bc2356b027ab264450918f0
https://doi.org/10.1177/039463200802100329
https://doi.org/10.1177/039463200802100329
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ab551cd57c90dbb0e4628476efe619e
https://doi.org/10.1016/j.jcf.2007.11.004
https://doi.org/10.1016/j.jcf.2007.11.004
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b9692cd8e88289e6c1771cc9a9c378d
https://doi.org/10.1242/dev.00183
https://doi.org/10.1242/dev.00183