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Sabina Maria Bruno

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Articles 14
Citations 145
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Recent Articles
1.
Bruno S, Blacona G, Lo Cicero S, Castelli G, Virgulti M, Testino G, et al.
Genes (Basel) . 2023 Sep; 14(9). PMID: 37761921
In the precision medicine era of cystic fibrosis (CF), therapeutic interventions, by the so-called modulators, target the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The levels of targetable CFTR proteins...
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Lo Cicero S, Castelli G, Blacona G, Bruno S, Sette G, Pigliucci R, et al.
Respir Res . 2023 Sep; 24(1):217. PMID: 37674160
Cystic fibrosis (CF) is caused by defects of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR-modulating drugs may overcome specific defects, such as the case of Trikafta, which is...
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Conflitti A, Cicolani G, Buonacquisto A, Pallotti F, Faja F, Bianchini S, et al.
Int J Mol Sci . 2023 Jan; 24(2). PMID: 36674527
The evaluation of morpho-functional sperm characteristics alone is not enough to explain infertility or to predict the outcome of Assisted Reproductive Technologies (ART): more sensitive diagnostic tools are needed in...
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Terracina S, Ferraguti G, Petrella C, Bruno S, Blacona G, Di Certo M, et al.
Curr Cancer Drug Targets . 2022 Aug; 23(2):87-102. PMID: 35975845
Evidence shows that there is a synergistic, bidirectional association between cancer and aging with many shared traits. Age itself is a risk factor for the onset of most cancers, while...
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Sette G, Lo Cicero S, Blacona G, Pierandrei S, Bruno S, Salvati V, et al.
Eur Respir J . 2021 Aug; 58(6). PMID: 34413153
Question: Cystic fibrosis (CF) is due to pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recent improvements have enabled pharmacological therapy aiming at restoring mutated CFTR expression...
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Pierandrei S, Truglio G, Ceci F, Del Porto P, Bruno S, Castellani S, et al.
Int J Mol Sci . 2021 Apr; 22(7). PMID: 33916525
The interplay between the cystic fibrosis transmembrane conductance regulator (CFTR) and the epithelial sodium channel (ENaC) in respiratory epithelia has a crucial role in the pathogenesis of cystic fibrosis (CF)....
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Sterrantino M, Fuso A, Pierandrei S, Bruno S, Testino G, Cimino G, et al.
Diagnostics (Basel) . 2021 Jan; 11(2). PMID: 33504063
Genetic analysis in cystic fibrosis (CF) is a difficult task. Within the many causes of variability and uncertainty, a major determinant is poor knowledge of the functional effect of most...
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Terlizzi V, Padoan R, Claut L, Colombo C, Fabrizzi B, Lucarelli M, et al.
Diagnostics (Basel) . 2020 Dec; 10(12). PMID: 33322690
Background: There are no predictive factors of evolution of cystic fibrosis (CF) screen positive inconclusive diagnosis subjects (CFSPIDs). Aim: to define the role of the second variant as a predictive...
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Lucarelli M, Porcaro L, Biffignandi A, Costantino L, Giannone V, Alberti L, et al.
J Mol Diagn . 2017 Jul; 19(5):788-800. PMID: 28736296
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and...