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474 results on '"Di Gioia, P"'

7. Genetic risk factors for COVID-19 and influenza are largely distinct

Author

Kosmicki, Jack A., Marcketta, Anthony, Sharma, Deepika, Di Gioia, Silvio Alessandro, Batista, Samantha, Yang, Xiao-Man, Tzoneva, Gannie, Martinez, Hector, Sidore, Carlo, Kessler, Michael D., Horowitz, Julie E., Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Leader, Joseph B., Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Baltzell, Asher, Girshick, Ahna R., McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Reid, Jeffrey G., Economides, Aris, Kyratsous, Christos, Karalis, Katia, Baum, Alina, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Ball, Catherine A., Siminovitch, Katherine, Baras, Aris, Abecasis, Goncalo R., and Ferreira, Manuel A. R.

Published
2024
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9. A deep catalogue of protein-coding variation in 983,578 individuals

Author

Sun, Kathie Y., Bai, Xiaodong, Chen, Siying, Bao, Suying, Zhang, Chuanyi, Kapoor, Manav, Backman, Joshua, Joseph, Tyler, Maxwell, Evan, Mitra, George, Gorovits, Alexander, Mansfield, Adam, Boutkov, Boris, Gokhale, Sujit, Habegger, Lukas, Marcketta, Anthony, Locke, Adam E., Ganel, Liron, Hawes, Alicia, Kessler, Michael D., Sharma, Deepika, Staples, Jeffrey, Bovijn, Jonas, Gelfman, Sahar, Di Gioia, Alessandro, Rajagopal, Veera M., Lopez, Alexander, Varela, Jennifer Rico, Alegre-Díaz, Jesús, Berumen, Jaime, Tapia-Conyer, Roberto, Kuri-Morales, Pablo, Torres, Jason, Emberson, Jonathan, Collins, Rory, Cantor, Michael, Thornton, Timothy, Kang, Hyun Min, Overton, John D., Shuldiner, Alan R., Cremona, M. Laura, Nafde, Mona, Baras, Aris, Abecasis, Gonçalo, Marchini, Jonathan, Reid, Jeffrey G., Salerno, William, and Balasubramanian, Suganthi

Published
2024
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14. Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals

Author

Sun, Kathie Y., Bai, Xiaodong, Chen, Siying, Bao, Suying, Zhang, Chuanyi, Kapoor, Manav, Backman, Joshua, Joseph, Tyler, Maxwell, Evan, Mitra, George, Gorovits, Alexander, Mansfield, Adam, Boutkov, Boris, Gokhale, Sujit, Habegger, Lukas, Marcketta, Anthony, Locke, Adam E., Ganel, Liron, Hawes, Alicia, Kessler, Michael D., Sharma, Deepika, Staples, Jeffrey, Bovijn, Jonas, Gelfman, Sahar, Di Gioia, Alessandro, Rajagopal, Veera M., Lopez, Alexander, Varela, Jennifer Rico, Alegre-Díaz, Jesús, Berumen, Jaime, Tapia-Conyer, Roberto, Kuri-Morales, Pablo, Torres, Jason, Emberson, Jonathan, Collins, Rory, Cantor, Michael, Thornton, Timothy, Kang, Hyun Min, Overton, John D., Shuldiner, Alan R., Cremona, M. Laura, Nafde, Mona, Baras, Aris, Abecasis, Gonçalo, Marchini, Jonathan, Reid, Jeffrey G., Salerno, William, and Balasubramanian, Suganthi

Published
2025
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15. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Author

Tenney, Alan P, Di Gioia, Silvio Alessandro, Webb, Bryn D, Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J, Barry, Brenda J, Ray, Tammy, Kosicki, Michael, Robson, Caroline D, Zhang, Zhongyang, Collins, Thomas E, Gelber, Alon, Pratt, Brandon M, Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E, Van Ryzin, Carol, Lehky, Tanya J, Zalewski, Christopher, King, Kelly A, Brewer, Carmen C, Thurm, Audrey, Snow, Joseph, Facio, Flavia M, Narisu, Narisu, Bonnycastle, Lori L, Swift, Amy, Chines, Peter S, Bell, Jessica L, Mohan, Suresh, Whitman, Mary C, Staffieri, Sandra E, Elder, James E, Demer, Joseph L, Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A, Brady, Angela F, Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W, Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H, Parker, Stephen CJ, Hadlock, Tessa A, Vissers, Lisenka ELM, van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S, Pennacchio, Len A, Manoli, Irini, and Engle, Elizabeth C

Subjects
Biological Sciences, Genetics, 2.1 Biological and endogenous factors, Animals, Mice, Facial Paralysis, GATA2 Transcription Factor, Motor Neurons, Neurogenesis, Neurons, Efferent, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial motor neuron (FBMN) maldevelopment. In the present study, we report that HCFP1 results from heterozygous duplications within a neuron-specific GATA2 regulatory region that includes two enhancers and one silencer, and from noncoding single-nucleotide variants (SNVs) within the silencer. Some SNVs impair binding of NR2F1 to the silencer in vitro and in vivo and attenuate in vivo enhancer reporter expression in FBMNs. Gata2 and its effector Gata3 are essential for inner-ear efferent neuron (IEE) but not FBMN development. A humanized HCFP1 mouse model extends Gata2 expression, favors the formation of IEEs over FBMNs and is rescued by conditional loss of Gata3. These findings highlight the importance of temporal gene regulation in development and of noncoding variation in rare mendelian disease.

Published
2023

20. Supersymmetric dS4 solutions in D=11 supergravity

Author

Di Gioia, M. and Gutowski, J.

Subjects
High Energy Physics - Theory
Abstract

Supersymmetric warped product dS4 solutions in D=11 supergravity are classified. The Killing spinor is associated with two possible stabilizer groups, SU(3) and G_2. We show that there are no solutions to the Killing Spinor equations in the G_2 stabilizer case. For the SU(3) stablilzer case, all of the conditions imposed from supersymmetry on the 4-form flux, and the geometry of the internal manifold, are determined in terms of SU(3) invariant spinor bilinears., Comment: 31 pages, latex

Published
2022
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28. Damped Lyman-$\alpha$ absorbers and atomic hydrogen in galaxies: the view of the GAEA model

Author

Di Gioia, Serafina, Cristiani, Stefano, De Lucia, Gabriella, and Xie, Lizhi

Subjects
Astrophysics - Astrophysics of Galaxies, Astrophysics - Cosmology and Nongalactic Astrophysics
Abstract

Using the GAEA semi-analytic model, we analyse the connection between Damped Lyman-$\alpha$ systems (DLAs) and HI in galaxies. Our state-of-the-art semi-analytic model is tuned to reproduce the local galaxy HI mass function, and that also reproduces other important galaxy properties, including the galaxy mass - gas metallicity relation. To produce catalogs of simulated DLAs we throw $10^5$ random lines of sight in a composite simulated volume: dark matter haloes with log$(\frac{M_{200}}{ M_{\odot}}) \geq 11.5$ are extracted from the Millennium Simulation, while for $9.2 \leq \log(\frac{M_{200}}{ M_{\odot}})<11.5$ we use the Millennium II, and for $8 \leq \log(\frac{M_{200}}{M_{\odot}}) < 9.2$ a halo occupation distribution model. At $2 < z < 3$, where observational data are more accurate, our fiducial model predicts the correct shape of the column density distribution function, but its normalization falls short of the observations, with the discrepancy increasing at higher redshift. The agreement with observations is significantly improved increasing both the HI masses and the disk radii of model galaxies by a factor 2, as implemented 'a posteriori' in our $2M-2R$ model. In the redshift range of interest, haloes with $M_{200} \geq {10}^{11} M_{\odot}$ give the major contribution to $\Omega_{\rm DLA}$, and the typical DLA host halo mass is $\sim {10}^{11} M _{\odot}$. The simulated DLA metallicity distribution is in relatively good agreement with observations, but our model predicts an excess of DLAs at low metallicities. Our results suggest possible improvements for the adopted modelling of the filtering mass and metal ejection in low-mass haloes., Comment: 21 pages, 16 figures. Accepted for publication in MNRAS

Published
2020
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29. Mass accretion rates of clusters of galaxies: CIRS and HeCS

Author

Pizzardo, M., Di Gioia, S., Diaferio, A., De Boni, C., Serra, A. L., Geller, M. J., Sohn, J., Rines, K., and Baldi, M.

Subjects
Astrophysics - Cosmology and Nongalactic Astrophysics
Abstract

We use a new spherical accretion recipe tested on N-body simulations to measure the observed mass accretion rate (MAR) of 129 clusters in the Cluster Infall Regions in the Sloan Digital Sky Survey (CIRS) and in the Hectospec Cluster Survey (HeCS). The observed clusters cover the redshift range of $0.01

Published
2020
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31. Genetically determined cardiomyopathies at autopsy: the pivotal role of the pathologist in establishing the diagnosis and guiding family screening

Author

Sheppard, Mary N., van der Wal, Allard C., Banner, Jytte, d’Amati, Giulia, De Gaspari, Monica, De Gouveia, Rosa, Di Gioia, Cira, Giordano, Carla, Larsen, Maiken Kudahl, Lynch, Matthew J., Lucena, Joaquin, Molina, Pilar, Parsons, Sarah, Suarez-Mier, M. Paz, Rizzo, Stefania, Suvarna, Simon Kim, Rijdt, Wouter P te, Thiene, Gaetano, Vink, Aryan, Westaby, Joseph, Michaud, Katarzyna, and Basso, Cristina

Published
2023
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32. Non-Unitarity Problem in Quantum Gravity Corrections to Quantum Field Theory with Born-Oppenheimer Approximation

Author

Di Gioia, Federico, Maniccia, Giulia, Montani, Giovanni, and Niedda, Jacopo

Subjects
General Relativity and Quantum Cosmology, High Energy Physics - Theory
Abstract

The problem of time is one of the most relevant open issues in canonical quantum gravity. Although there is a huge literature about this topic, a commonly accepted solution has not been found yet. Here, we focus on the semiclassical approach to the problem of time, that has the main goal of reproducing quantum field theory on a fixed WKB background accounting also for quantum gravity corrections. We analyze the different choices of the expansion parameter and discuss the problems arising in previous proposals, where a non-unitary evolution emerges as an effect of quantum gravity corrections. In this work we develop a new approach to solve this problem by performing the WKB expansion with the introduction of the so-called kinematical action as a clock for quantum matter, that allows to recover a unitary dynamics., Comment: 24 pages, no figures. Little adjustments, improved bibliography

Published
2019
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38. 3D-Arterial analysis software and CEUS in the assessment of severity and vulnerability of carotid atherosclerotic plaque: a comparison with CTA and histopathology

Author

Fresilli, Daniele, Di Leo, Nicola, Martinelli, Ombretta, Di Marzo, Luca, Pacini, Patrizia, Dolcetti, Vincenzo, Del Gaudio, Giovanni, Canni, Fabrizio, Ricci, Ludovica Isabella, De Vito, Corrado, Caiazzo, Corrado, Carletti, Raffaella, Di Gioia, Cira, Carbone, Iacopo, Feinstein, Steven B., Catalano, Carlo, and Cantisani, Vito

Published
2022
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39. Linear perturbations of an anisotropic Bianchi I model with a uniform magnetic field

Author

Di Gioia, Federico and Montani, Giovanni

Subjects
General Relativity and Quantum Cosmology
Abstract

In this work, we study the effect of a magnetic field on the growth of cosmological perturbations. We develop a mathematical consistent treatment in which a perfect fluid and a uniform magnetic field evolve together in a Bianchi I universe. We then study the energy density perturbations on this background with particular emphasis on the effect of the background magnetic field. We develop a full relativistic solution which refines previous analysis in the relativistic limit, recovers the known ones in the Newtonian treatment with adiabatic sound speed, and it adds anisotropic effects to the relativistic ones for perturbations with wavelength within the Hubble horizon. This represents a refined approach on the perturbation theory of an isotropic universe in GR, since most of the present studies deal with fully isotropic systems., Comment: Small modifications. Final version, published by EPJC

Published
2018
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40. How Families Handled Emergency Remote Schooling during the COVID-19 Lockdown in Spring 2020: Summary of Key Findings from Families with Children in 11 European Countries. JRC Science for Policy Report

Author

European Union (EU) (Belgium), Vuorikari, R., Velicu, A., Chaudron, S., Cachia, R., and Di Gioia, R.

Abstract

This research gives the first look into families' digital lives and remote schooling activities across 11 European countries during the COVID-19 lockdown in spring 2020. It focused on children at the end of primary education and in secondary education (10-18 years old) and their parents in 9 EU countries (Austria, France, Germany, Ireland, Italy, Portugal, Romania, Slovenia and Spain) in addition to Switzerland and Norway. The findings show that on average, children across all participating countries reported spending about half of their online time on digital learning activities. Moreover, almost all children who participated in the survey were able to conduct some school-related activities using digital technologies, and many reported that their schools had provided them with digital communication and digital learning platforms. The findings, however, also point out to large variations in terms of how children were able to interact with their teachers in learning activities and how often children were in contact with their teachers through online means. Whereas 75% or more of the children in Italy, Norway, Portugal and Romania said to have daily online interactions with their teachers during the COVID-19 lockdown in spring 2020, this number was between 50-75% in France, Ireland, Spain and Switzerland, and between 34-41% in Germany, Austria and Slovenia. Worryingly, some children reported very infrequent contacts with teachers with no access to online activities, the amount varies from 11% in Ireland to less than 1% in Italy. Overall, the lockdown during COVID-19 has shown that the readiness of schools and families to support remote instruction through digital technologies was uneven. How learners perceived online learning activities and teacher contacts can be, to a certain extent, indicative of teaching arrangements put in place by national and regional school authorities. As such, it cannot be used as a proxy for the quality of learning that took place during the classroom closure, mainly because there are various factors that influence learning, which during the COVID-19 lockdown varied substantially starting from accessibility and availability of parental support and devices at homes to the instructional practices and teacher competences. It is also rather normal that practices vary from a school or a country to another within certain parameters. However, it is also the job of the education system and society to guarantee equitable access to education to all. In the upcoming reports, there will be more focus on such questions. Secondly, the findings shed light on the level of worries that both children and parents have due to the pandemic and classroom closure. In general, parents were worried about the pandemic's negative impact on their child's education (e.g. falling behind with schoolwork, failing in exams). Children were concerned about not being able to keep up with their schoolwork while classes changed due to the pandemic and about getting poor grades because of the online learning activities. Additionally, across all participating countries, many children reported an increased workload because of the remote schooling activities. Even 40% or more children in Slovenia, Portugal, Austria and Spain estimated to have more workload than before the pandemic. With regards to children's worries outlined above, school policies and practices can play a role. For example, in some school systems in Europe, the assessment methods were changed due to the classroom closure (e.g. e.g.: Council Conclusions on countering the COVID-19 crisis in education and training; European Schoolnet2). Thirdly, the report gives an idea of children's skills (e.g. digital skills) and their beliefs in their abilities to cope with online learning activities. Previous research shows that this can be strongly related to their successful learning and also to their well-being. The survey confirms that remote and digital schooling opens opportunities for children to gain new skills with digital technologies, but it also shows that the family background can influence the way in which the children felt about their capacities and beliefs towards online learning activities. In almost all participating countries, children coming from families with below-average household income felt less strongly about their own capacities to cope with online learning activities than other children. Last, families voice the need for more support from schools if such a situation was to happen in the future again. Over 80% of responding parents in Romania, Portugal, Ireland, Spain, Italy and Slovenia would have wanted the school to provide possibilities for their children to do online educational activities with their classmates. Likewise, ideas for extracurricular activities to be done at home would be welcomed by over 80% of parents especially in countries such as Romania, Portugal and Spain. [This report was prepared by the European Commission Joint Research Centre (JRC).]

Published
2020
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41. Angiogenic factors as prognostic markers in neuroendocrine neoplasms

Author

Puliani, Giulia, Sesti, Franz, Anastasi, Emanuela, Verrico, Monica, Tarsitano, Maria Grazia, Feola, Tiziana, Campolo, Federica, Di Gioia, Cira Rosaria Tiziana, Venneri, Mary Anna, Angeloni, Antonio, Appetecchia, Marialuisa, Lenzi, Andrea, Isidori, Andrea Marcello, Faggiano, Antongiulio, and Giannetta, Elisa

Published
2022
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44. ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

Author

Praveen, Kavita, Patel, Gaurang C., Gurski, Lauren, Ayer, Ariane H., Persaud, Trikaladarshi, Still, Matthew D., Miloscio, Lawrence, Van Zyl, Tavé, Di Gioia, Silvio Alessandro, Brumpton, Ben, Krebs, Kristi, Åsvold, Bjørn Olav, Chen, Esteban, Chavali, Venkata R. M., Fury, Wen, Gudiseva, Harini V., Hyde, Sarah, Jorgenson, Eric, Lefebvre, Stephanie, Li, Dadong, Li, Alexander, Mclninch, James, Patel, Brijeshkumar, Rabinowitz, Jeremy S., Salowe, Rebecca, Schurmann, Claudia, Seidelin, Anne-Sofie, Stahl, Eli, Sun, Dylan, Teslovich, Tanya M., Tybjærg-Hansen, Anne, Willer, Cristen, Waldron, Scott, Walley, Sabrina, Yang, Hua, Zaveri, Sarthak, Hu, Ying, Hveem, Kristian, Melander, Olle, Milani, Lili, Stender, Stefan, O’Brien, Joan M., Jones, Marcus B., Abecasis, Gonçalo R., Cantor, Michael N., Weyne, Jonathan, Karalis, Katia, Economides, Aris, Della Gatta, Giusy, Ferreira, Manuel A., Yancopoulos, George D., Baras, Aris, Romano, Carmelo, and Coppola, Giovanni

Published
2022
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49. Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation

Author

Haldipur, Parthiv, Bernardo, Silvia, Aldinger, Kimberly A., Sivakumar, Tarika, Millman, Jake, Sjoboen, Alexandria H., Dang, Derek, Dubocanin, Danilo, Deng, Mei, Timms, Andrew E., Davis, Brian D., Plummer, Jasmine T., Mankad, Kshitij, Oztekin, Ozgur, Manganaro, Lucia, Guimiot, Fabien, Adle-Biassette, Homa, Russo, Rosa, Siebert, Joseph R., Kidron, Debora, Petrilli, Giulia, Roux, Nathalie, Razavi, Ferechte, Glass, Ian A., Di Gioia, Cira, Silvestri, Evelina, and Millen, Kathleen J.

Published
2021
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