G
Gabriella Esposito
Researcher at University of Naples Federico II
Publications - 57
Citations - 931
Gabriella Esposito is an academic researcher from University of Naples Federico II. The author has contributed to research in topics: Hereditary fructose intolerance & G protein-coupled receptor. The author has an hindex of 15, co-authored 52 publications receiving 718 citations.
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Journal ArticleDOI
S100B is not a reliable prognostic index in paediatric TBI.
Ornella Piazza,M.P. Storti,S. Cotena,Francesca Stoppa,Daniela Perrotta,Gabriella Esposito,Nicola Pirozzi,Rosalba Tufano +7 more
TL;DR: Early increase of S100B in paediatric traumatic brain injury has not been clarified yet, and the interpretation of its increase when the head trauma is associated with other injuries needs the understanding of the physiopathological mechanisms that rule its release in the systemic circulation.
Journal ArticleDOI
Elevated S100B levels do not correlate with the severity of encephalopathy during sepsis
TL;DR: In this article, the authors measured S100B levels in patients with severe sepsis to investigate if the severity of SAE correlated with an increase in S100b levels.
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Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
Gabriella Esposito,Francesca De Falco,Nadia Tinto,Francesco Testa,Luigi Vitagliano,Igor Cristian Maria Tandurella,Lucio Iannone,Settimio Rossi,Ernesto Rinaldi,Francesca Simonelli,Adriana Zagari,Francesco Salvatore +11 more
TL;DR: The results indicate that the REP1‐Rab geranyl‐geranyl transferase interaction and consequently REP 1‐mediated Rab prenylation is essential for RPE and photoreceptor function.
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Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
Gabriella Esposito,Francesco Testa,Miriam Zacchia,Anna Crispo,Valentina Di Iorio,Giovanna Capolongo,Luca Rinaldi,Marcella D’Antonio,Tiziana Fioretti,Pasquale Iadicicco,Settimio Rossi,Annamaria Franzè,Elio Marciano,Giovanbattista Capasso,Francesca Simonelli,Francesco Salvatore +15 more
TL;DR: BBS1, BBS2 and BBS10 are major causative genes in Italian BBS patients, and B BS10 was associated with the worse outcome in terms of the renal, ocular and audiovestibular phenotypes.
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Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19.
Immacolata Andolfo,Roberta Russo,Vito Alessandro Lasorsa,Sueva Cantalupo,Barbara Eleni Rosato,Ferdinando Bonfiglio,Giulia Frisso,Pasquale Abete,Gian Marco Cassese,Giuseppe Servillo,Gabriella Esposito,Ivan Gentile,Carmelo Piscopo,Romolo Villani,Giuseppe Fiorentino,Pellegrino Cerino,Carlo Buonerba,Biancamaria Pierri,Massimo Zollo,Achille Iolascon,Mario Capasso +20 more
TL;DR: In this article, the authors performed an in-depth genetic analysis of chromosome 21 exploiting the genome-wide association study data, including 6,406 individuals hospitalized for COVID-19 and 902,088 controls with European genetic ancestry from the COVID19 Host Genetics Initiative.