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Francesco Salvatore   Professor  Institute, Department or Faculty Head 
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Francesco Salvatore published an article in September 2017.
Top co-authors See all
Roberto Berni Canani

136 shared publications

Department of Translational Medical Science, University of Naples Federico II, Naples, Italy.

Mario Capasso

54 shared publications

Dipartimento di Medicina Molecolare e Biotecnologie Mediche; Università degli Studi di Napoli “Federico II”; Naples Italy

Pietro Alifano

18 shared publications

Department of Biological and Environmental Sciences and Technologies (DiSTeBA), University of Salento, Via Provinciale Monteroni 165, 73100, Lecce, Italy.

Margherita Di Costanzo

11 shared publications

Department of Translational Medical Science, University of Naples "Federico II", Via S. Pansini, 5 80131 Naples, Italy

Rita Nocerino

11 shared publications

Department of Translational Medical Science—Pediatric Section, University of Naples “Federico II” Via S. Pansini, 5, 80131 Naples, Italy

212
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198
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Distribution of Articles published per year 
(1961 - 2017)
Total number of journals
published in
 
36
 
Publications See all
Article 0 Reads 2 Citations Altered miR-193a-5p expression in children with cow's milk allergy V. D'argenio, V. Del Monaco, L. Paparo, F. D. E. De Palma, R... Published: 23 September 2017
Allergy, doi: 10.1111/all.13299
DOI See at publisher website PubMed View at PubMed
Article 0 Reads 0 Citations Allelic Complexity in Long QT Syndrome: A Family-Case Study Alberto Zullo, Giulia Frisso, Nicola Detta, Berardo Sarubbi,... Published: 27 July 2017
International Journal of Molecular Sciences, doi: 10.3390/ijms18081633
DOI See at publisher website PubMed View at PubMed ABS Show/hide abstract
Congenital long QT syndrome (LQTS) is associated with high genetic and allelic heterogeneity. In some cases, more than one genetic variant is identified in the same (compound heterozygosity) or different (digenic heterozygosity) genes, and subjects with multiple pathogenic mutations may have a more severe disease. Standard-of-care clinical genetic testing for this and other arrhythmia susceptibility syndromes improves the identification of complex genotypes. Therefore, it is important to distinguish between pathogenic mutations and benign rare variants. We identified four genetic variants (KCNQ1-p.R583H, KCNH2-p.C108Y, KCNH2-p.K897T, and KCNE1-p.G38S) in an LQTS family. On the basis of in silico analysis, clinical data from our family, and the evidence from previous studies, we analyzed two mutated channels, KCNQ1-p.R583H and KCNH2-p.C108Y, using the whole-cell patch clamp technique. We found that KCNQ1-p.R583H was not associated with a severe functional impairment, whereas KCNH2-p.C108Y, a novel variant, encoded a non-functional channel that exerts dominant-negative effects on the wild-type. Notably, the common variants KCNH2-p.K897T and KCNE1-p.G38S were previously reported to produce more severe phenotypes when combined with disease-causing alleles. Our results indicate that the novel KCNH2-C108Y variant can be a pathogenic LQTS mutation, whereas KCNQ1-p.R583H, KCNH2-p.K897T, and KCNE1-p.G38S could be LQTS modifiers.
Article 0 Reads 1 Citation Clinical and genetic characterization of patients with hypertrophic cardiomyopathy and right atrial enlargement Daniele Masarone, Giulia Frisso, Maria Iacomino, Ilaria Ferr... Published: 01 April 2017
Journal of Cardiovascular Medicine, doi: 10.2459/jcm.0000000000000361
DOI See at publisher website PubMed View at PubMed
Article 0 Reads 9 Citations Unveiling the in Vivo Protein Corona of Circulating Leukocyte-like Carriers Claudia Corbo, Roberto Molinaro, Francesca Taraballi, Naama ... Published: 10 March 2017
ACS Nano, doi: 10.1021/acsnano.7b00376
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Article 0 Reads 4 Citations Effect of lifelong football training on the expression of muscle molecular markers involved in healthy longevity A. Mancini, D. Vitucci, G. Labruna, E. Imperlini, M. B. Rand... Published: 01 March 2017
European Journal of Applied Physiology and Occupational Physiology, doi: 10.1007/s00421-017-3562-8
DOI See at publisher website PubMed View at PubMed
Article 0 Reads 2 Citations Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vesti... Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Al... Published: 01 February 2017
BMC Medical Genetics, doi: 10.1186/s12881-017-0372-0
DOI See at publisher website PubMed View at PubMed ABS Show/hide abstract
Background Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS. Methods We analyzed three common BBS genes, BBS1, BBS10 and BBS2, in 25 Italian patients fulfilling the clinical criteria of BBS. In 12 patients, we identified gene-specific biallelic variants and thus correlated genotype to the ophthalmic, renal and audio-vestibular phenotypes. Results At least one sequence variant was found in 60% of patients. The most common mutated gene was BBS1 followed by BBS10. Of the 17 sequence variants we found, 11 have not previously been associated with BBS. In 12 patients, we identified biallelic pathogenic variants; they had retinitis pigmentosa with early onset of visual impairment. However, retinal dystrophy was less severe in patients with BBS1 than in those with BBS10 variants. Overall, we found a high prevalence of renal dysmorphism and dysfunction. Notably, patients with BBS10 variants had the most severe renal impairment, which resulted in a critical decline in renal function. All the patients who underwent audio-vestibular evaluation had dysfunction of the cochlear outer hair cells, thus confirming the presence of hearing defects. Conclusion BBS1, BBS2 and BBS10 are major causative genes in Italian BBS patients. BBS10 was associated with the worse outcome in terms of the renal, ocular and audiovestibular phenotypes. Cochlear dysfunction should be included among the hallmarks of BBS. Keywords Bardet-Biedl syndrome BBS1, BBS2 and BBS10 gene variants Ciliopathy Renal, ocular and audiovestibular phenotype
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