scispace - formally typeset
Search or ask a question
Institution

University of Florence

EducationFlorence, Toscana, Italy
About: University of Florence is a education organization based out in Florence, Toscana, Italy. It is known for research contribution in the topics: Population & Carbonic anhydrase. The organization has 27292 authors who have published 79599 publications receiving 2341684 citations. The organization is also known as: Università degli studi di Firenze & Universita degli studi di Firenze.


Papers
More filters
Journal ArticleDOI
TL;DR: Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations and potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria were found.
Abstract: Background Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated. Methods Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). We validated candidate mutations with the use of Sanger sequencing and, for variants present at unequal read depths, subcloning followed by colony sequencing. Results Validated, causal mutations were found in 27 persons (17%; range, 10 to 30% for each phenotype). Mutations were somatic in 8 of the 27 (30%), predominantly in person...

294 citations

Journal ArticleDOI
TL;DR: In this paper, the chemical evolution of the Galaxy for elements from Ba to Eu, using an evolutionary model suitable for reproducing a large set of Galactic (local and nonlocal) and extragalactic constraints, has been studied.
Abstract: We follow the chemical evolution of the Galaxy for elements from Ba to Eu, using an evolutionary model suitable for reproducing a large set of Galactic (local and nonlocal) and extragalactic constraints. Input stellar yields for neutron-rich nuclei have been separated into their s-process and r-process components. The production of s-process elements in thermally pulsing asymptotic giant branch stars of low mass proceeds from the combined operation of two neutron sources: the dominant reaction 13C(α, n)16O, which releases neutrons in radiative conditions during the interpulse phase, and the reaction 22Ne(α, n)25Mg, marginally activated during thermal instabilities. The resulting s-process distribution is strongly dependent on the stellar metallicity. For the standard model discussed in this paper, there is a sharp production of the Ba-peak elements around Z Z☉/4. Concerning the r-process yields, we assume that the production of r-nuclei is a primary process occurring in stars near the lowest mass limit for Type II supernova progenitors. The r-contribution to each nucleus is computed as the difference between its solar abundance and its s-contribution, given by the Galactic chemical evolution model at the epoch of the formation of the solar system. We compare our results with spectroscopic abundances of elements from Ba to Eu at various metallicities (mainly from F and G stars), showing that the observed trends can be understood in the light of present knowledge of neutron capture nucleosynthesis. Finally, we discuss a number of emerging features that deserve further scrutiny.

293 citations

Journal ArticleDOI
TL;DR: Analysis of RNA sequences from bronchoalveolar lavage fluids obtained from coronavirus-infected patients suggests that both APOBECs and ADARs are involved in coronav virus genome editing, a process that may shape the fate of both virus and patient.
Abstract: The COVID-19 outbreak has become a global health risk, and understanding the response of the host to the SARS-CoV-2 virus will help to combat the disease. RNA editing by host deaminases is an innate restriction process to counter virus infection, but it is not yet known whether this process operates against coronaviruses. Here, we analyze RNA sequences from bronchoalveolar lavage fluids obtained from coronavirus-infected patients. We identify nucleotide changes that may be signatures of RNA editing: adenosine-to-inosine changes from ADAR deaminases and cytosine-to-uracil changes from APOBEC deaminases. Mutational analysis of genomes from different strains of Coronaviridae from human hosts reveals mutational patterns consistent with those observed in the transcriptomic data. However, the reduced ADAR signature in these data raises the possibility that ADARs might be more effective than APOBECs in restricting viral propagation. Our results thus suggest that both APOBECs and ADARs are involved in coronavirus genome editing, a process that may shape the fate of both virus and patient.

293 citations

Journal ArticleDOI
01 Aug 1999-Fuel
TL;DR: In this article, the upgrading of wood pyrolysis oils produced in the ENEL fast-pyrolytic plant located in Bastardo, Italy, and in the Union Fenosa fast-polymerous plants located in La Coruna, Spain was studied by using HZSM-5 and H-Y zeolites in a fixed-bed laboratory scale reactor, at different temperatures and residence times.

292 citations


Authors

Showing all 27699 results

NameH-indexPapersCitations
Charles A. Dinarello1901058139668
D. M. Strom1763167194314
Gregory Y.H. Lip1693159171742
Christopher M. Dobson1501008105475
Dirk Inzé14964774468
Thomas Hebbeker1481984114004
Marco Zanetti1451439104610
Richard B. Devereux144962116403
Gunther Roland1411471100681
Markus Klute1391447104196
Tariq Aziz138164696586
Guido Tonelli138145897248
Giorgio Trinchieri13843378028
Christof Roland137130896632
Christoph Paus1371585100801
Network Information
Related Institutions (5)
Sapienza University of Rome
155.4K papers, 4.3M citations

98% related

University of Padua
114.8K papers, 3.6M citations

97% related

University of Milan
139.7K papers, 4.6M citations

97% related

University of Bologna
115.1K papers, 3.4M citations

97% related

University of Turin
77.9K papers, 2.4M citations

97% related

Performance
Metrics
No. of papers from the Institution in previous years
YearPapers
2023244
2022631
20215,298
20205,251
20194,652
20184,147