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5. Transcriptional Profiling of Rat Prefrontal Cortex after Acute Inescapable Footshock Stress

Author

Martini, P, Mingardi, J, Carini, G, Mattevi, S, Ndoj, E, La Via, L, Magri, C, Gennarelli, M, Russo, I, Popoli, M, Musazzi, L, Barbon, A, Martini P., Mingardi J., Carini G., Mattevi S., Ndoj E., La Via L., Magri C., Gennarelli M., Russo I., Popoli M., Musazzi L., Barbon A., Martini, P, Mingardi, J, Carini, G, Mattevi, S, Ndoj, E, La Via, L, Magri, C, Gennarelli, M, Russo, I, Popoli, M, Musazzi, L, Barbon, A, Martini P., Mingardi J., Carini G., Mattevi S., Ndoj E., La Via L., Magri C., Gennarelli M., Russo I., Popoli M., Musazzi L., and Barbon A.

Abstract

Stress is a primary risk factor for psychiatric disorders such as Major Depressive Disorder (MDD) and Post Traumatic Stress Disorder (PTSD). The response to stress involves the regulation of transcriptional programs, which is supposed to play a role in coping with stress. To evaluate transcriptional processes implemented after exposure to unavoidable traumatic stress, we applied microarray expression analysis to the PFC of rats exposed to acute footshock (FS) stress that were sacrificed immediately after the 40 min session or 2 h or 24 h after. While no substantial changes were observed at the single gene level immediately after the stress session, gene set enrichment analysis showed alterations in neuronal pathways associated with glia development, glia-neuron networking, and synaptic function. Furthermore, we found alterations in the expression of gene sets regulated by specific transcription factors that could represent master regulators of the acute stress response. Of note, these pathways and transcriptional programs are activated during the early stress response (immediately after FS) and are already turned off after 2 h-while at 24 h, the transcriptional profile is largely unaffected. Overall, our analysis provided a transcriptional landscape of the early changes triggered by acute unavoidable FS stress in the PFC of rats, suggesting that the transcriptional wave is fast and mild, but probably enough to activate a cellular response to acute stress.

Published
2023

6. RADAR IMAGING AND CHARACTERIZATION OF THE BINARY NEAR-EARTH ASTEROID (185851) 2000 DP107

Author

Naidu, SP, Margot, JL, Taylor, PA, Nolan, MC, Busch, MW, Benner, LAM, Brozovic, M, Giorgini, JD, Jao, JS, and Magri, C

Subjects
minor planets, asteroids: individual, techniques: radar astronomy, astro-ph.EP, Astronomical and Space Sciences, Astronomy & Astrophysics
Abstract

The potentially hazardous asteroid (185851) 2000 DP107 was the first binary near-Earth asteroid to be imaged. Radar observations in 2000 provided images at 75m resolution that revealed the shape, orbit, and spin-up formation mechanism of the binary. The asteroid made a more favorable flyby of the Earth in 2008, yielding images at 30m resolution. We used these data to obtain shape models for the two components and to improve the estimates of the mutual orbit, component masses, and spin periods. The primary has a sidereal spin period of 2.7745 ± 0.0007 hr and is roughly spheroidal with an equivalent diameter of 863m ± 5%. It has a mass of 4.656 ± 0.43 × 1011 kg and a density of 1381 ± 244 kgm.3. It exhibits an equatorial ridge similar to the (66391) 1999 KW4 primary; however, the equatorial ridge in this case is not as regular and has a .300 m diameter concavity on one side. The secondary has a sidereal spin period of 1.77 ± 0.02 days commensurate with the orbital period. The secondary is slightly elongated and has overall dimensions of 377 × 314 × 268 m (6% uncertainties). Its mass is 0.178 ± 0.021 × 1011 kg and its density is 1047 ± 230 kgm.3. The mutual orbit has a semimajor axis of 2.659 ± 0.08 km, an eccentricity of 0.019 ± 0.01, and a period of 1.7556 ± 0.0015 days. The normalized total angular momentum of this system exceeds the amount required for the expected spin-up formation mechanism. An increase of angular momentum from nongravitational forces after binary formation is a possible explanation. The two components have similar radar reflectivity, suggesting a similar composition consistent with formation by spin-up. The secondary appears to exhibit a larger circular polarization ratio than the primary, suggesting a rougher surface or subsurface at radar wavelength scales.

Published
2015

9. Shape model and surface properties of the OSIRIS-REx target Asteroid (101955) Bennu from radar and lightcurve observations

Author

Nolan, MC, Magri, C, Howell, ES, Benner, LAM, Giorgini, JD, Hergenrother, CW, Hudson, RS, Lauretta, DS, Margot, JL, Ostro, SJ, and Scheeres, DJ

Subjects
Radar observations, Asteroids, Surfaces, Asteroids, Rotation, Asteroid Bennu, Asteroids, Surfaces, Rotation, Astronomy & Astrophysics, Astronomical and Space Sciences, Geochemistry, Geophysics
Abstract

We determine the three-dimensional shape of near-Earth Asteroid (101955) Bennu based on radar images and optical lightcurves. Bennu was observed both in 1999 at its discovery apparition, and in 2005 using the 12.6-cm radar at the Arecibo Observatory and the 3.5-cm radar at the Goldstone tracking station. Data obtained in both apparitions were used to construct a shape model of this object. Observations were also obtained at many other wavelengths to characterize this object, some of which were used to further constrain the shape modeling. The lightcurve data, along with an initial determination of the rotation period derived from them, simplified and improved the shape modeling.Below we briefly describe the observations and shape modeling process. We discuss the shape model and the implications for the possible formation and evolution of this object. We also describe the importance and limitations of the shape model in view of the fact that this object is the target of the OSIRIS-REx spacecraft mission. © 2013 Elsevier Inc.

Published
2013

10. Radar observations and the shape of near-Earth ASTEROID 2008 EV5

Author

Busch, MW, Ostro, SJ, Benner, LAM, Brozovic, M, Giorgini, JD, Jao, JS, Scheeres, DJ, Magri, C, Nolan, MC, Howell, ES, Taylor, PA, Margot, JL, and Brisken, W

Subjects
Asteroids, Asteroids, Surfaces, Asteroids, Dynamics, Radar observations, astro-ph.EP, Surfaces, Dynamics, Astronomy & Astrophysics, Astronomical and Space Sciences, Geochemistry, Geophysics
Abstract

We observed the near-Earth ASTEROID 2008 EV5 with the Arecibo and Goldstone planetary radars and the Very Long Baseline Array during December 2008. EV5 rotates retrograde and its overall shape is a 400 ± 50 m oblate spheroid. The most prominent surface feature is a ridge parallel to the asteroid's equator that is broken by a concavity about 150. m in diameter. Otherwise the asteroid's surface is notably smooth on decameter scales. EV5's radar and optical albedos are consistent with either rocky or stony-iron composition. The equatorial ridge is similar to structure seen on the rubble-pile near-Earth asteroid (66391) 1999 KW4 and is consistent with YORP spin-up reconfiguring the asteroid in the past. We interpret the concavity as an impact crater. Shaking during the impact and later regolith redistribution may have erased smaller features, explaining the general lack of decameter-scale surface structure. © 2011 Elsevier Inc.

Published
2011

19. C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age

Author

Zanella, I, Zacchi, E, Piva, S, Filosto, M, Beligni, G, Alaverdian, D, Amitrano, S, Fava, F, Baldassarri, M, Frullanti, E, Meloni, I, Renieri, A, Castelli, F, Quiros-Roldan, E, Mari, F, Daga, S, Benetti, E, Furini, S, Fallerini, C, Valentino, F, Doddato, G, Giliberti, A, Tita, R, Bruttini, M, Croci, S, Pinto, A, Mencarelli, M, Rizzo, C, Montagnani, F, Tumbarello, M, Rancan, I, Sarno, L, Palmieri, M, Carriero, M, Fabbiani, M, Rossetti, B, Bargagli, E, Bergantini, L, D'Alessandro, M, Cameli, P, Bennett, D, Anedda, F, Marcantonio, S, Scolletta, S, Franchi, F, Mazzei, M, Guerrini, S, Conticini, E, Cantarini, L, Frediani, B, Tacconi, D, Raffaelli, C, Feri, M, Donati, A, Scala, R, Guidelli, L, Spargi, G, Corridi, M, Nencioni, C, Croci, L, Caldarelli, G, Spagnesi, M, Piacentini, P, Bandini, M, Desanctis, E, Cappelli, S, Canac-Cini, A, Verzuri, A, Anemoli, V, Ognibene, A, Pancrazi, A, Lorubbio, M, Vaghi, M, Monforte, A, Miraglia, F, Mondelli, M, Bruno, R, Marco, V, Mantovani, S, Ludovisi, S, Girardis, M, Venturelli, S, Busani, S, Cossarizza, A, Antinori, A, Vergori, A, Emiliozzi, A, Rusconi, S, Siano, M, Gabrieli, A, Riva, A, Francisci, D, Schiaroli, E, Tommasi, A, Paciosi, F, Scotton, P, Andretta, F, Panese, S, Scaggiante, R, Gatti, F, Parisi, S, Antoni, M, Monica, M, Piscopo, C, Capasso, M, Russo, R, Andolfo, I, Iolascon, A, Fiorentino, G, Carella, M, Castori, M, Merla, G, Squeo, G, Aucella, F, Raggi, P, Marciano, C, Perna, R, Bassetti, M, Biagio, A, Sanguinetti, M, Masucci, L, Valente, S, Mandala, M, Giorli, A, Salerni, L, Zucchi, P, Parravicini, P, Menatti, E, Baratti, S, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Coviello, D, Mussini, C, Bosio, G, Martinelli, E, Mancarella, S, Tavecchia, L, Belli, M, Crotti, L, Parati, G, Picchiotti, N, Gori, M, Gabbi, C, Sanarico, M, Ceri, S, Pinoli, P, Raimondi, F, Bis-Carini, F, Stella, A, Rizzi, M, Maggiolo, F, Ripamonti, D, Suardi, C, Bachetti, T, Rovere, M, Sarzi-Braga, S, Bussotti, M, Capitani, K, Zguro, K, Dei, S, Ravaglia, S, Artuso, R, Perrella, A, Bianchi, F, Bergomi, P, Catena, E, Colombo, R, Perticaroli, V, Gennarelli, M, Magri, C, Basiotto, G, Zizioli, D, Giliani, S, Monti, E, Foca, E, Carriero, C, Latronico, N, Padovani, A, Brugnoni, D, Zanella I., Zacchi E., Piva S., Filosto M., Beligni G., Alaverdian D., Amitrano S., Fava F., Baldassarri M., Frullanti E., Meloni I., Renieri A., Castelli F., Quiros-Roldan E., Mari F., Daga S., Benetti E., Furini S., Fallerini C., Valentino F., Doddato G., Giliberti A., Tita R., Bruttini M., Croci S., Pinto A. M., Mencarelli M. A., Rizzo C. L., Montagnani F., Tumbarello M., Rancan I., Sarno L. D., Palmieri M., Carriero M. L., Fabbiani M., Rossetti B., Bargagli E., Bergantini L., D'alessandro M., Cameli P., Bennett D., Anedda F., Marcantonio S., Scolletta S., Franchi F., Mazzei M. A., Guerrini S., Conticini E., Cantarini L., Frediani B., Tacconi D., Raffaelli C. S., Feri M., Donati A., Scala R., Guidelli L., Spargi G., Corridi M., Nencioni C., Croci L., Caldarelli G. P., Spagnesi M., Piacentini P., Bandini M., Desanctis E., Cappelli S., Canac-Cini A., Verzuri A., Anemoli V., Ognibene A., Pancrazi A., Lorubbio M., Vaghi M., Monforte A. D., Miraglia F. G., Mondelli M. U., Bruno R., Marco V., Mantovani S., Ludovisi S., Girardis M., Venturelli S., Busani S., Cossarizza A., Antinori A., Vergori A., Emiliozzi A., Rusconi S., Siano M., Gabrieli A., Riva A., Francisci D., Schiaroli E., Tommasi A., Paciosi F., Scotton P. G., Andretta F., Panese S., Scaggiante R., Gatti F., Parisi S. G., Antoni M. D., Monica M. D., Piscopo C., Capasso M., Russo R., Andolfo I., Iolascon A., Fiorentino G., Carella M., Castori M., Merla G., Squeo G. M., Aucella F., Raggi P., Marciano C., Perna R., Bassetti M., Biagio A. D., Sanguinetti M., Masucci L., Valente S., Mandala M., Giorli A., Salerni L., Zucchi P., Parravicini P., Menatti E., Baratti S., Trotta T., Giannattasio F., Coiro G., Lena F., Coviello D. A., Mussini C., Bosio G., Martinelli E., Mancarella S., Tavecchia L., Belli M. A., Crotti L., Parati G., Picchiotti N., Gori M., Gabbi C., Sanarico M., Ceri S., Pinoli P., Raimondi F., Bis-Carini F., Stella A., Rizzi M., Maggiolo F., Ripamonti D., Suardi C., Bachetti T., Rovere M. T. L., Sarzi-Braga S., Bussotti M., Capitani K., Zguro K., Dei S., Ravaglia S., Artuso R., Perrella A., Bianchi F., Bergomi P., Catena E., Colombo R., Perticaroli V., Gennarelli M., Magri C., Basiotto G., Zizioli D., Giliani S., Monti E., Foca E., Carriero C., Latronico N., Padovani A., Brugnoni D., Zanella, I, Zacchi, E, Piva, S, Filosto, M, Beligni, G, Alaverdian, D, Amitrano, S, Fava, F, Baldassarri, M, Frullanti, E, Meloni, I, Renieri, A, Castelli, F, Quiros-Roldan, E, Mari, F, Daga, S, Benetti, E, Furini, S, Fallerini, C, Valentino, F, Doddato, G, Giliberti, A, Tita, R, Bruttini, M, Croci, S, Pinto, A, Mencarelli, M, Rizzo, C, Montagnani, F, Tumbarello, M, Rancan, I, Sarno, L, Palmieri, M, Carriero, M, Fabbiani, M, Rossetti, B, Bargagli, E, Bergantini, L, D'Alessandro, M, Cameli, P, Bennett, D, Anedda, F, Marcantonio, S, Scolletta, S, Franchi, F, Mazzei, M, Guerrini, S, Conticini, E, Cantarini, L, Frediani, B, Tacconi, D, Raffaelli, C, Feri, M, Donati, A, Scala, R, Guidelli, L, Spargi, G, Corridi, M, Nencioni, C, Croci, L, Caldarelli, G, Spagnesi, M, Piacentini, P, Bandini, M, Desanctis, E, Cappelli, S, Canac-Cini, A, Verzuri, A, Anemoli, V, Ognibene, A, Pancrazi, A, Lorubbio, M, Vaghi, M, Monforte, A, Miraglia, F, Mondelli, M, Bruno, R, Marco, V, Mantovani, S, Ludovisi, S, Girardis, M, Venturelli, S, Busani, S, Cossarizza, A, Antinori, A, Vergori, A, Emiliozzi, A, Rusconi, S, Siano, M, Gabrieli, A, Riva, A, Francisci, D, Schiaroli, E, Tommasi, A, Paciosi, F, Scotton, P, Andretta, F, Panese, S, Scaggiante, R, Gatti, F, Parisi, S, Antoni, M, Monica, M, Piscopo, C, Capasso, M, Russo, R, Andolfo, I, Iolascon, A, Fiorentino, G, Carella, M, Castori, M, Merla, G, Squeo, G, Aucella, F, Raggi, P, Marciano, C, Perna, R, Bassetti, M, Biagio, A, Sanguinetti, M, Masucci, L, Valente, S, Mandala, M, Giorli, A, Salerni, L, Zucchi, P, Parravicini, P, Menatti, E, Baratti, S, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Coviello, D, Mussini, C, Bosio, G, Martinelli, E, Mancarella, S, Tavecchia, L, Belli, M, Crotti, L, Parati, G, Picchiotti, N, Gori, M, Gabbi, C, Sanarico, M, Ceri, S, Pinoli, P, Raimondi, F, Bis-Carini, F, Stella, A, Rizzi, M, Maggiolo, F, Ripamonti, D, Suardi, C, Bachetti, T, Rovere, M, Sarzi-Braga, S, Bussotti, M, Capitani, K, Zguro, K, Dei, S, Ravaglia, S, Artuso, R, Perrella, A, Bianchi, F, Bergomi, P, Catena, E, Colombo, R, Perticaroli, V, Gennarelli, M, Magri, C, Basiotto, G, Zizioli, D, Giliani, S, Monti, E, Foca, E, Carriero, C, Latronico, N, Padovani, A, Brugnoni, D, Zanella I., Zacchi E., Piva S., Filosto M., Beligni G., Alaverdian D., Amitrano S., Fava F., Baldassarri M., Frullanti E., Meloni I., Renieri A., Castelli F., Quiros-Roldan E., Mari F., Daga S., Benetti E., Furini S., Fallerini C., Valentino F., Doddato G., Giliberti A., Tita R., Bruttini M., Croci S., Pinto A. M., Mencarelli M. A., Rizzo C. L., Montagnani F., Tumbarello M., Rancan I., Sarno L. D., Palmieri M., Carriero M. L., Fabbiani M., Rossetti B., Bargagli E., Bergantini L., D'alessandro M., Cameli P., Bennett D., Anedda F., Marcantonio S., Scolletta S., Franchi F., Mazzei M. A., Guerrini S., Conticini E., Cantarini L., Frediani B., Tacconi D., Raffaelli C. S., Feri M., Donati A., Scala R., Guidelli L., Spargi G., Corridi M., Nencioni C., Croci L., Caldarelli G. P., Spagnesi M., Piacentini P., Bandini M., Desanctis E., Cappelli S., Canac-Cini A., Verzuri A., Anemoli V., Ognibene A., Pancrazi A., Lorubbio M., Vaghi M., Monforte A. D., Miraglia F. G., Mondelli M. U., Bruno R., Marco V., Mantovani S., Ludovisi S., Girardis M., Venturelli S., Busani S., Cossarizza A., Antinori A., Vergori A., Emiliozzi A., Rusconi S., Siano M., Gabrieli A., Riva A., Francisci D., Schiaroli E., Tommasi A., Paciosi F., Scotton P. G., Andretta F., Panese S., Scaggiante R., Gatti F., Parisi S. G., Antoni M. D., Monica M. D., Piscopo C., Capasso M., Russo R., Andolfo I., Iolascon A., Fiorentino G., Carella M., Castori M., Merla G., Squeo G. M., Aucella F., Raggi P., Marciano C., Perna R., Bassetti M., Biagio A. D., Sanguinetti M., Masucci L., Valente S., Mandala M., Giorli A., Salerni L., Zucchi P., Parravicini P., Menatti E., Baratti S., Trotta T., Giannattasio F., Coiro G., Lena F., Coviello D. A., Mussini C., Bosio G., Martinelli E., Mancarella S., Tavecchia L., Belli M. A., Crotti L., Parati G., Picchiotti N., Gori M., Gabbi C., Sanarico M., Ceri S., Pinoli P., Raimondi F., Bis-Carini F., Stella A., Rizzi M., Maggiolo F., Ripamonti D., Suardi C., Bachetti T., Rovere M. T. L., Sarzi-Braga S., Bussotti M., Capitani K., Zguro K., Dei S., Ravaglia S., Artuso R., Perrella A., Bianchi F., Bergomi P., Catena E., Colombo R., Perticaroli V., Gennarelli M., Magri C., Basiotto G., Zizioli D., Giliani S., Monti E., Foca E., Carriero C., Latronico N., Padovani A., and Brugnoni D.

Abstract

A cytokine storm, autoimmune features and dysfunctions of myeloid cells significantly contribute to severe coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Genetic background of the host seems to be partly responsible for severe phenotype and genes related to innate immune response seem critical host determinants. The C9orf72 gene has a role in vesicular trafficking, autophagy regulation and lyso-some functions, is highly expressed in myeloid cells and is involved in immune functions, regulating the lysosomal degradation of mediators of innate immunity. A large non-coding hexanucleotide repeat expansion (HRE) in this gene is the main genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), both characterized by neuroinflammation and high systemic levels of proinflammatory cytokines, while HREs of intermediate length, although rare, are more frequent in autoimmune disorders. C9orf72 full mutation results in haploinsufficiency and intermediate HREs seem to modulate gene expression as well and impair autophagy. Herein, we sought to explore whether intermediate HREs in C9orf72 may be a risk factor for severe COVID-19. Although we found intermediate HREs in only a small portion of 240 patients with severe COVID-19 pneumonia, the magnitude of risk for requiring non-invasive or mechanical ventilation conferred by harboring intermediate repeats >10 units in at least one C9orf72 allele was more than twice respect to having shorter expansions, when adjusted for age (odds ratio (OR) 2.36; 95% confidence interval (CI) 1.04–5.37, p = 0.040). The association between intermediate repeats >10 units and more severe clinical outcome (p = 0.025) was also validated in an independent cohort of 201 SARS-CoV-2 infected patients. These data suggest that C9orf72 HREs >10 units may influence the pathogenic process driving more severe COVID-19 phenotypes.

Published
2021

20. Genome-wide association study detected novel susceptibility genes for social cognition impairment in people with schizophrenia

Author

Gennarelli, M., Monteleone, P., Minelli, A., Monteleone, A. M., Rossi, A., Rocca, P., Bertolino, A., Aguglia, E., Amore, M., Bellino, S., Bellomo, A., Biondi, M., Bucci, P., Carpiniello, B., Cascino, G., Cuomo, A., Dell'Osso, L., di Giannantonio, M., Giordano, G. M., Marchesi, C., Oldani, L., Pompili, M., Roncone, R., Rossi, R., Siracusano, A., Tenconi, E., Vita, A., Zeppegno, P., Galderisi, S., Maj, M., Corrivetti, G., Del Buono, G., Torretta, S., Calia, V., Raio, A., Barlati, S., Deste, G., Magri, C., Valsecchi, P., Pinna, F., Muscas, M., Marras, L., Piegari, G., Giuliani, L., Brando, F., Coccia, C., Concerto, C., Poli, L. F., Surace, T., Martinotti, G., Pettorruso, M., Fraticelli, S., Altamura, M., Pasquale Tortorelli, F. M., Mollica, A., Calcagno, P., Murri, M. B., Serafini, G., Pacitti, F., Socci, V., Lucaselli, A., Giusti, L., Mammarella, S., Bianchini, V., Gramaglia, C., Gambaro, E., Martelli, M., Favaro, A., Meneguzzo, P., Collantoni, E., Tonna, M., Ossola, P., Gerra, M. L., Carmassi, C., Carpita, B., Cremone, I. M., Comparelli, A., Brugnoli, R., Corigliano, V., Fagiolini, A., Bolognesi, S., Goracci, A., Di Lorenzo, G., Ribolsi, M., Niolu, C., Bozzatello, P., Brasso, C., Montemagni, C., Buzzanca, A., Di Fabio, F., Girardi, N., Gennarelli, Massimo, Monteleone, Palmiero, Minelli, Alessandra, Monteleone, Alessio Maria, Rossi, Alessandro, Rocca, Paola, Bertolino, Alessandro, Aguglia, Eugenio, Amore, Mario, Bellino, Silvio, Bellomo, Antonello, Biondi, Massimo, Bucci, Paola, Carpiniello, Bernardo, Cascino, Giammarco, Cuomo, Alessandro, Dell'Osso, Liliana, di Giannantonio, Massimo, Giordano, Giulia Maria, Marchesi, Carlo, Oldani, Lucio, Pompili, Maurizio, Roncone, Rita, Rossi, Rodolfo, Siracusano, Alberto, Tenconi, Elena, Vita, Antonio, Zeppegno, Patrizia, Galderisi, Silvana, and Maj, Mario

Subjects
Treatment outcome, GWAS, Social cognition, TMEM74, meta-analysis, schizophrenia, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Membrane Proteins, Polymorphism, Single Nucleotide, Schizophrenia, Social Cognition, Susceptibility gene, Genome-wide association study, Biology, Affect (psychology), meta-analysi, 03 medical and health sciences, 0302 clinical medicine, medicine, SNP, Polymorphism, Biological Psychiatry, Genetics, Single Nucleotide, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Settore MED/25, Meta-analysis
Abstract

Objectives People with schizophrenia (SCZ) present serious and generalised deficits in social cognition (SC), which affect negatively patients' functioning and treatment outcomes. The genetic background of SC has been investigated in disorders other than SCZ providing weak and sparse results. Thus, our aim was to explore possible genetic correlates of SC dysfunctions in SCZ patients with a genome-wide study (GWAS) approach. Methods We performed a GWAS meta-analysis of data coming from two cohorts made of 242 and 160 SCZ patients, respectively. SC was assessed with different tools in order to cover its different domains. Results We found GWAS significant association between the TMEM74 gene and the patients' ability in social inference as assessed by The Awareness of Social Inference Test; this association was confirmed by both SNP-based analysis (lead SNP rs3019332 p-value = 5.24 × 10-9) and gene-based analysis (p-value = 1.09 × 10-7). Moreover, suggestive associations of other genes with different dimensions of SC were also found. Conclusions Our study shows for the first time GWAS significant or suggestive associations of some gene variants with SC domains in people with SCZ. These findings should stimulate further studies to characterise the genetic underpinning of SC dysfunctions in SCZ.

Published
2022

23. C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age

Author

Zanella, I., Zacchi, E., Piva, S., Filosto, M., Beligni, G., Alaverdian, D., Amitrano, S., Fava, F., Baldassarri, M., Frullanti, E., Meloni, I., Renieri, A., Castelli, F., Quiros-Roldan, E., Mari, F., Daga, S., Benetti, E., Furini, S., Fallerini, C., Valentino, Francesca, Doddato, G., Giliberti, A., Tita, R., Bruttini, M., Croci, S., Pinto, A. M., Mencarelli, Marta, Rizzo, C. L., Montagnani, F., Tumbarello, Mario, Rancan, I., Sarno, L. D., Palmieri, Marco, Carriero, M. L., Fabbiani, M., Rossetti, Barbara, Bargagli, E., Bergantini, L., D'Alessandro, Michele, Cameli, P., Bennett, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, Francesca, Mazzei, M. A., Guerrini, S., Conticini, E., Cantarini, L., Frediani, B., Tacconi, D., Raffaelli, C. S., Feri, M., Donati, Andrea, Scala, R., Guidelli, L., Spargi, G., Corridi, M., Nencioni, C., Croci, L., Caldarelli, G. P., Spagnesi, M., Piacentini, P., Bandini, M., Desanctis, E., Cappelli, S., Canac-Cini, A., Verzuri, A., Anemoli, V., Ognibene, A., Pancrazi, A., Lorubbio, M., Vaghi, M., Monforte, A. D., Miraglia, F. G., Mondelli, M. U., Bruno, R., Marco, V., Mantovani, Susanna, Ludovisi, S., Girardis, M., Venturelli, S., Busani, S., Cossarizza, A., Antinori, Armando, Vergori, A., Emiliozzi, A., Rusconi, S., Siano, M., Gabrieli, A., Riva, A., Francisci, D., Schiaroli, E., Tommasi, A., Paciosi, F., Scotton, P. G., Andretta, F., Panese, S., Scaggiante, R., Gatti, F., Parisi, S. G., Antoni, M. D., Monica, M. D., Piscopo, C., Capasso, Monica, Russo, R., Andolfo, I., Iolascon, A., Fiorentino, Giuseppe, Carella, M., Castori, M., Merla, G., Squeo, G. M., Aucella, F., Raggi, P., Marciano, C., Perna, Raffaella, Bassetti, M., Biagio, A. D., Sanguinetti, Maurizio, Masucci, Luca, Valente, S., Mandala, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Baratti, S., Trotta, T., Giannattasio, F., Coiro, G., Lena, Francesco, Coviello, D. A., Mussini, C., Bosio, Giacomo, Martinelli, E., Mancarella, S., Tavecchia, L., Belli, M. A., Crotti, L., Parati, G., Picchiotti, N., Gori, Mario, Gabbi, Chiara, Sanarico, M., Ceri, S., Pinoli, P., Raimondi, F., Bis-Carini, F., Stella, A., Rizzi, M., Maggiolo, F., Ripamonti, D., Suardi, C., Bachetti, T., Rovere, M. T. L., Sarzi-Braga, S., Bussotti, M., Capitani, K., Zguro, K., Dei, S., Ravaglia, S., Artuso, R., Perrella, A., Bianchi, F., Bergomi, P., Catena, E., Colombo, R., Perticaroli, V., Gennarelli, Massimo, Magri, Carlotta, Basiotto, G., Zizioli, D., Giliani, S., Monti, E., Foca, E., Carriero, C., Latronico, N., Padovani, A., Brugnoni, D., Valentino F., Mencarelli M. A., Tumbarello M. (ORCID:0000-0002-9519-8552), Palmieri M. (ORCID:0000-0001-8263-336X), Rossetti B., D'alessandro M., Franchi F., Donati A., Mantovani S., Antinori A. (ORCID:0000-0002-6019-2417), Capasso M., Fiorentino G., Perna R., Sanguinetti M. (ORCID:0000-0002-9780-7059), Masucci L. (ORCID:0000-0002-8358-6726), Lena F. (ORCID:0000-0001-5528-319X), Bosio G., Gori M., Gabbi C., Gennarelli M., Magri C., Zanella, I., Zacchi, E., Piva, S., Filosto, M., Beligni, G., Alaverdian, D., Amitrano, S., Fava, F., Baldassarri, M., Frullanti, E., Meloni, I., Renieri, A., Castelli, F., Quiros-Roldan, E., Mari, F., Daga, S., Benetti, E., Furini, S., Fallerini, C., Valentino, Francesca, Doddato, G., Giliberti, A., Tita, R., Bruttini, M., Croci, S., Pinto, A. M., Mencarelli, Marta, Rizzo, C. L., Montagnani, F., Tumbarello, Mario, Rancan, I., Sarno, L. D., Palmieri, Marco, Carriero, M. L., Fabbiani, M., Rossetti, Barbara, Bargagli, E., Bergantini, L., D'Alessandro, Michele, Cameli, P., Bennett, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, Francesca, Mazzei, M. A., Guerrini, S., Conticini, E., Cantarini, L., Frediani, B., Tacconi, D., Raffaelli, C. S., Feri, M., Donati, Andrea, Scala, R., Guidelli, L., Spargi, G., Corridi, M., Nencioni, C., Croci, L., Caldarelli, G. P., Spagnesi, M., Piacentini, P., Bandini, M., Desanctis, E., Cappelli, S., Canac-Cini, A., Verzuri, A., Anemoli, V., Ognibene, A., Pancrazi, A., Lorubbio, M., Vaghi, M., Monforte, A. D., Miraglia, F. G., Mondelli, M. U., Bruno, R., Marco, V., Mantovani, Susanna, Ludovisi, S., Girardis, M., Venturelli, S., Busani, S., Cossarizza, A., Antinori, Armando, Vergori, A., Emiliozzi, A., Rusconi, S., Siano, M., Gabrieli, A., Riva, A., Francisci, D., Schiaroli, E., Tommasi, A., Paciosi, F., Scotton, P. G., Andretta, F., Panese, S., Scaggiante, R., Gatti, F., Parisi, S. G., Antoni, M. D., Monica, M. D., Piscopo, C., Capasso, Monica, Russo, R., Andolfo, I., Iolascon, A., Fiorentino, Giuseppe, Carella, M., Castori, M., Merla, G., Squeo, G. M., Aucella, F., Raggi, P., Marciano, C., Perna, Raffaella, Bassetti, M., Biagio, A. D., Sanguinetti, Maurizio, Masucci, Luca, Valente, S., Mandala, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Baratti, S., Trotta, T., Giannattasio, F., Coiro, G., Lena, Francesco, Coviello, D. A., Mussini, C., Bosio, Giacomo, Martinelli, E., Mancarella, S., Tavecchia, L., Belli, M. A., Crotti, L., Parati, G., Picchiotti, N., Gori, Mario, Gabbi, Chiara, Sanarico, M., Ceri, S., Pinoli, P., Raimondi, F., Bis-Carini, F., Stella, A., Rizzi, M., Maggiolo, F., Ripamonti, D., Suardi, C., Bachetti, T., Rovere, M. T. L., Sarzi-Braga, S., Bussotti, M., Capitani, K., Zguro, K., Dei, S., Ravaglia, S., Artuso, R., Perrella, A., Bianchi, F., Bergomi, P., Catena, E., Colombo, R., Perticaroli, V., Gennarelli, Massimo, Magri, Carlotta, Basiotto, G., Zizioli, D., Giliani, S., Monti, E., Foca, E., Carriero, C., Latronico, N., Padovani, A., Brugnoni, D., Valentino F., Mencarelli M. A., Tumbarello M. (ORCID:0000-0002-9519-8552), Palmieri M. (ORCID:0000-0001-8263-336X), Rossetti B., D'alessandro M., Franchi F., Donati A., Mantovani S., Antinori A. (ORCID:0000-0002-6019-2417), Capasso M., Fiorentino G., Perna R., Sanguinetti M. (ORCID:0000-0002-9780-7059), Masucci L. (ORCID:0000-0002-8358-6726), Lena F. (ORCID:0000-0001-5528-319X), Bosio G., Gori M., Gabbi C., Gennarelli M., and Magri C.

Abstract

A cytokine storm, autoimmune features and dysfunctions of myeloid cells significantly contribute to severe coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Genetic background of the host seems to be partly responsible for severe phenotype and genes related to innate immune response seem critical host determinants. The C9orf72 gene has a role in vesicular trafficking, autophagy regulation and lyso-some functions, is highly expressed in myeloid cells and is involved in immune functions, regulating the lysosomal degradation of mediators of innate immunity. A large non-coding hexanucleotide repeat expansion (HRE) in this gene is the main genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), both characterized by neuroinflammation and high systemic levels of proinflammatory cytokines, while HREs of intermediate length, although rare, are more frequent in autoimmune disorders. C9orf72 full mutation results in haploinsufficiency and intermediate HREs seem to modulate gene expression as well and impair autophagy. Herein, we sought to explore whether intermediate HREs in C9orf72 may be a risk factor for severe COVID-19. Although we found intermediate HREs in only a small portion of 240 patients with severe COVID-19 pneumonia, the magnitude of risk for requiring non-invasive or mechanical ventilation conferred by harboring intermediate repeats >10 units in at least one C9orf72 allele was more than twice respect to having shorter expansions, when adjusted for age (odds ratio (OR) 2.36; 95% confidence interval (CI) 1.04–5.37, p = 0.040). The association between intermediate repeats >10 units and more severe clinical outcome (p = 0.025) was also validated in an independent cohort of 201 SARS-CoV-2 infected patients. These data suggest that C9orf72 HREs >10 units may influence the pathogenic process driving more severe COVID-19 phenotypes.

Published
2021

25. Radar imaging of Asteroid 7 Iris

Author

Ostro, S.J., Magri, C., Benner, L.A.M., Giorgini, J.D., Nolan, M.C., Hine, A.A., Busch, M.W., and Margot, J.L.

Subjects
Radar systems, Craters, Astronomy, Earth sciences
Abstract

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.icarus.2009.11.011 Byline: S.J. Ostro (a), C. Magri (b), L.A.M. Benner (a), J.D. Giorgini (a), M.C. Nolan (c), A.A. Hine (c), M.W. Busch (d), J.L. Margot (e) Keywords: Asteroids; Radar observations Abstract: Arecibo radar images of Iris obtained in November 2006 reveal a topographically complex object whose gross shape is approximately ellipsoidal with equatorial dimensions within 15% of 253x228km. The radar view of Iris was restricted to high southern latitudes, precluding reliable estimation of Iris' entire 3D shape, but permitting accurate reconstruction of southern hemisphere topography. The most prominent features, three roughly 50-km-diameter concavities almost equally spaced in longitude around the south pole, are probably impact craters. In terms of shape regularity and fractional relief, Iris represents a plausible transition between [approximately equal to]50-km-diameter asteroids with extremely irregular overall shapes and very large concavities, and very much larger asteroids (Ceres and Vesta) with very regular, nearly convex shapes and generally lacking monumental concavities. Author Affiliation: (a) Jet Propulsion Laboratory, California Institute of Technology, Pasadena, CA 91109, USA (b) University of Maine at Farmington, 173 High Street - Preble Hall, Farmington, ME 04938, USA (c) Arecibo Observatory, HC3 Box 53995, Arecibo, PR 00612, USA (d) Division of Geological and Planetary Sciences, California Institute of Technology, MC 150-21, Pasadena, CA 91125, USA (e) Department of Earth and Space Sciences, University of California, Los Angeles, 595 Charles Young Drive East, Box 951567, Los Angeles, CA 90095, USA Article History: Received 26 June 2009; Revised 10 October 2009; Accepted 7 November 2009

Published
2010

27. 2019 ESC Guidelines on diabetes, pre-diabetes, and cardiovascular diseases developed in collaboration with the EASD

Author

Cosentino, F., Grant, P. J., Aboyans, V., Bailey, C. J., Ceriello, A., Delgado, V., Federici, M., Filippatos, G., Grobbee, D. E., Hansen, T. B., Huikuri, H. V., Johansson, I., Juni, P., Lettino, M., Marx, N., Mellbin, L. G., Ostgren, C. J., Rocca, Bianca, Roffi, M., Sattar, N., Seferovic, P. M., Sousa-Uva, M., Valensi, P., Wheeler, D. C., Piepoli, M. F., Birkeland, K. I., Adamopoulos, S., Ajjan, R., Avogaro, A., Baigent, C., Brodmann, M., Bueno, H., Ceconi, C., Chioncel, O., Coats, A., Collet, J. -P., Collins, P., Cosyns, B., Di Mario, C., Fisher, M., Fitzsimons, D., Halvorsen, S., Hansen, D., Hoes, A., Holt, R. I. G., Home, P., Katus, H. A., Khunti, K., Komajda, M., Lambrinou, E., Landmesser, U., Lewis, B. S., Linde, C., Lorusso, R., Mach, F., Mueller, C., Neumann, F. -J., Persson, F., Petersen, S. E., Petronio, A. S., Richter, D. J., Rosano, G. M. C., Rossing, P., Ryden, L., Shlyakhto, E., Simpson, I. A., Touyz, R. M., Wijns, W., Wilhelm, M., Williams, B., Windecker, S., Dean, V., Gale, C. P., Hindricks, G., Iung, B., Leclercq, C., Merkely, B., Zelveian, P. H., Scherr, D., Jahangirov, T., Lazareva, I., Shivalkar, B., Naser, N., Gruev, I., Milicic, D., Petrou, P. M., Linhart, A., Hildebrandt, P., Hasan-Ali, H., Marandi, T., Lehto, S., Mansourati, J., Kurashvili, R., Siasos, G., Lengyel, C., Thrainsdottir, I. S., Aronson, D., Di Lenarda, A., Raissova, A., Ibrahimi, P., Abilova, S., Trusinskis, K., Saade, G., Benlamin, H., Petrulioniene, Z., Banu, C., Magri, C. J., David, L., Boskovic, A., Alami, M., Liem, A. H., Bosevski, M., Svingen, G. F. T., Janion, M., Gavina, C., Vinereanu, D., Nedogoda, S., Mancini, T., Ilic, M. D., Fabryova, L., Fras, Z., Jimenez-Navarro, M. F., Norhammar, A., Lehmann, R., Mourali, M. S., Ural, D., Nesukay, E., Chowdhury, T. A., Clinical sciences, Cardio-vascular diseases, Cardiology, Human Physiology and Special Physiology of Physical Education, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Zurich, and Cosentino, Francesco

Subjects
Settore MED/09 - Medicina Interna, Epidemiology, [SDV]Life Sciences [q-bio], 10265 Clinic for Endocrinology and Diabetology, Psychological intervention, Disease, Impaired glucose tolerance, Diabetes mellitus, Health care, risk factors, Guidelines, cardiovascular diseases, cardiovascular risk assessment, diabetes mellitus, epidemiology, impaired glucose tolerance, patient management, patient-centred care, pharmacological treatment, prevention, revascularization, Prediabetes, ComputingMilieux_MISCELLANEOUS, Societies, Medical, ddc:616, Cardiovascular risk assessment, 3. Good health, Europe, Cardiovascular diseases, Pre diabetes, Practice Guidelines as Topic, Cardiology and Cardiovascular Medicine, Pharmacological treatment, medicine.medical_specialty, Patient management, Patient-centred care, Prevention, Revascularization, Risk factors, Settore BIO/14 - FARMACOLOGIA, Cardiology, 610 Medicine & health, 2705 Cardiology and Cardiovascular Medicine, Prediabetic State, medicine, Humans, business.industry, medicine.disease, Diabetes Mellitus, Type 2, Family medicine, business
Abstract

This is the second iteration of the European Society of Cardiology (ESC) and European Association for the Study of Diabetes (EASD) joining forces to write guidelines on the management of diabetes mellitus (DM), pre-diabetes, and cardiovascular disease (CVD), designed to assist clinicians and other healthcare workers to make evidence-based management decisions. The growing awareness of the strong biological relationship between DM and CVD rightly prompted these two large organizations to collaborate to generate guidelines relevant to their joint interests, the first of which were published in 2007. Some assert that too many guidelines are being produced but, in this burgeoning field, five years in the development of both basic and clinical science is a long time and major trials have reported in this period, making it necessary to update the previous Guidelines.

Published
2020

32. Improved Impact Hazard Assessment with Existing Radar Sites and a New 70-m Southern Hemisphere Radar Installation

Author

Giorgini, J. D, Slade, M. A, Silva, A, Preston, R. A, Brozovic, M, Taylor, P. A, and Magri, C

Subjects
Communications And Radar
Abstract

Add radar capability to the existing southern hemisphere 70-m Deep Space Network (DSN) site at Canberra, Australia, thereby increasing by 1.5-2x the observing time available for high-precision NEO trajectory refinement and characterization. Estimated cost: approx.$16 million over 3 years, $2.5 million/year for operations (FY09).

Published
2009

33. Asteroid Radar Astronomy

Author

Ostro, S. J., Hudson, R. S., Benner, L. A.M., Giorgini, J. D., Magri, C., Margot, J.L., and Nolan, M. C.

Published
2002

34. Radar Images of Asteroid 100085 (1992 UY4)

Author

Benner, Lance A. M, Busch, M. W, Ostro, S. J, Giorgini, J. D, Hine, A. A, Harmon, J. K, Nolan, M. C, Rose, R, Jurgens, R. F, Jao, J. S, Magri, C, and Margot, J. -L

Subjects
Astronomy
Published
2006

38. Asteroid Radar Astronomy at the Dawn of the New Millennium

Author

Ostro, S. J, Benner, L. A. M, Giorgini, J. D, Magri, C, Margot, J-L, and Nolan, M. C

Subjects
Lunar And Planetary Science And Exploration
Abstract

This talk will use images, movies, and radar-derived three-dimensional models to present recent highlights of asteroid radar research, concentrating on low-V mission candidates. Additional information is contained in the original extended abstract.

Published
2002

41. Association of Haptoglobin-1 allele with Autism

Author

Mezzelani, A., Cupaioli, F. A., Mosca, E., Magri, C., Gennarelli, M., Raggi, M. E., Landini, M., Galluccio, N., Chiappori, F., Moscatelli, M., Gnocchi, M., Villa, C., Molteni, M., Bonfanti, A., Ciceri, F., Marabotti, A., and Milanesi, L.

Subjects
Haptoglobin, intestinal permeability, Autism spectrum disorders, Zonulin
Abstract

Gene-environment interaction, through abnormal intestinal adsorption, has been proposed as possible mechanism for autism pathogenesis in those patients lacking of causative genetic variants. Haptoglobin (HP) is a haemoglobin binding and acute-phase plasma protein, encoded by two co-dominant alleles, HP-1 and HP-2, producing pre-HP-1 and pre-HP-2 proteins that mature in HP-1 and HP-2, respectively. Due to a 1.7Kb copy number variation in the HP gene, the HP-2 allele has two extra exons with respect to HP-1 (Fig. 1). Thus the HP protein is a dimer in homozygous subjects for HP-1 allele and is multimer in homozygous HP-2. Endogenous pre-HP-2 protein deregulates intestinal tight-junctions through EGFR and PAR2 activation, increases intestinal permeability and has been associated with autoimmune and inflammatory diseases as well as with psychiatric conditions (Fasano, 2011; Sturgeon and Fasano, 2016). Since the association between HP alleles and autism has just been investigated in a very small sample size of patients and controls (Rose et al., 2018), we genotyped, by PCR analysis, HP in a cohort of Italian patients with autism (n=406) and in controls (n=367). The aim was to evaluate the possible association of HP-2 and autism spectrum disorder (ASD). Contrary to what we expected, HP-1 allele distribution was different between patients and controls (36.3% and 29.4%, respectively) and significantly associated with autism (P=0.0041). Since a subgroup of patients and controls have already been genotyped by Illumina Human Omni-15-8 v.1.0 and Affy-6.0 chips, respectively, we are trying to impute HP alleles from flanking SNP haplotypes. HP alleles will therefore be predicted in publicly available large cohorts of patients with autism.

Published
2018

43. Radar observations of asteroid 216 Kleopatra

Author

Ostro, S, Hudson, R, Nolan, M, Margot, J, Scheeres, D, Campbell, D, Magri, C, Giorgini, J, and Yeomans, D

Subjects
Communications And Radar
Abstract

Radar observations of the main-belt, M-class asteroid 216 Kleopatra reveal a dumbbell-shaped object with overall dimensions of 217 kilometers by 94 kilometers by 81 kilometers (+/-25%). The asteroid's surface properties are consistent with a regolith having a metallic composition and a porosity comparable to that of Lunar soil.

Published
2000

45. Mainbelt Asteroids: Results of Arecibo and Goldstone Radar Observations of 37 Objects During 1980-1995

Author

Magri, C, Ostro, S. J, Rosema, K. D, Thomas, M. L, Mitchell, D. L, Campbell, D. B, Chandler, J. F, Shapiro, I. I, Giorgini, J. D, and Yeomans, D. K

Subjects
Communications And Radar
Abstract

We report detailed results of Arecibo and Goldstone radar observations of 30 mainbelt asteroids (MBAs) during 1980-1997. In addition to estimates of radar cross section, radar albedo, and circular polarization ratio, we obtain new pole constraints for several asteroids, with those for 21 Lutetia being particularly restrictive.

Published
1998

46. Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variables

Author

Giacopuzzi, E, Gennarelli, M, Sacco, C, Filippini, A, Mingardi, J, Magri, C, Barbon, A, Giacopuzzi, Edoardo, Gennarelli, Massimo, Sacco, Chiara, Filippini, Alice, Mingardi, Jessica, Magri, Chiara, Barbon, Alessandro, Giacopuzzi, E, Gennarelli, M, Sacco, C, Filippini, A, Mingardi, J, Magri, C, Barbon, A, Giacopuzzi, Edoardo, Gennarelli, Massimo, Sacco, Chiara, Filippini, Alice, Mingardi, Jessica, Magri, Chiara, and Barbon, Alessandro

Abstract

Background: A-to-I RNA editing is a co-/post-transcriptional modification catalyzed by ADAR enzymes, that deaminates Adenosines (A) into Inosines (I). Most of known editing events are located within inverted ALU repeats, but they also occur in coding sequences and may alter the function of encoded proteins. RNA editing contributes to generate transcriptomic diversity and it is found altered in cancer, autoimmune and neurological disorders. Emerging evidences indicate that editing process could be influenced by genetic variations, biological and environmental variables. Results: We analyzed RNA editing levels in human blood using RNA-seq data from 459 healthy individuals and identified 2079 sites consistently edited in this tissue. As expected, analysis of gene expression revealed that ADAR is the major contributor to editing on these sites, explaining ~ 13% of observed variability. After removing ADAR effect, we found significant associations for 1122 genes, mainly involved in RNA processing. These genes were significantly enriched in genes encoding proteins interacting with ADARs, including 276 potential ADARs interactors and 9 ADARs direct partners. In addition, our analysis revealed several factors potentially influencing RNA editing in blood, including cell composition, age, Body Mass Index, smoke and alcohol consumption. Finally, we identified genetic loci associated with editing levels, including known ADAR eQTLs and a small region on chromosome 7, containing LOC730338, a lincRNA gene that appears to modulate ADARs mRNA expression. Conclusions: Our data provides a detailed picture of the most relevant RNA editing events and their variability in human blood, giving interesting insights on potential mechanisms behind this post-transcriptional modification and its regulation in this tissue.

Published
2018

47. 2017 ESC focused update on dual antiplatelet therapy in coronary artery disease developed in collaboration with EACTS

Author

Valgimigli, M., Bueno, H., Byrne, R. A., Collet, J. -P., Costa, F., Jeppsson, A., Kastrati, A., Kolh, P., Mauri, L., Montalescot, G., Neumann, F. -J., Petricevic, M., Roffi, M., Steg, P. G., Zamorano, J. L., Levine, G. N., Badimon, L., Vranckx, P., Agewall, S., Andreotti, Felicita, Antman, E., Barbato, E., Bassand, J. -P., Bugiardini, R., Cikirikcioglu, M., Cuisset, T., De Bonis, M., Delgado, V., Fitzsimons, D., Galie, N., Gilard, M., Hamm, C. W., Ibanez, B., James, S., Knuuti, J., Landmesser, U., Leclercq, C., Lettino, M., Lip, G., Piepoli, M. F., Pierard, L., Schwerzmann, M., Sechtem, U., Simpson, I. A., Uva, M. S., Stabile, E., Storey, R. F., Tendera, M., Van De Werf, F., Verheugt, F., Aboyans, V., Windecker, S., Coca, A., Coman, I. M., Dean, V., Gaemperli, O., Hindricks, G., Iung, B., Juni, P., Katus, H. A., Lancellotti, P., Mcdonagh, T., Ponikowski, P., Richter, D. J., Shlyakhto, E., Roithinger, F. X., Aliyev, F., Stelmashok, V., Desmet, W., Postadzhiyan, A., Georghiou, G. P., Motovska, Z., Grove, E. L., Marandi, T., Kiviniemi, T., Kedev, S., Massberg, S., Alexopoulos, D., Kiss, R. G., Gudmundsdottir, I. J., Mcfadden, E. P., Lev, E., De Luca, L., Sugraliyev, A., Haliti, E., Mirrakhimov, E., Latkovskis, G., Petrauskiene, B., Huijnen, S., Magri, C. J., Cherradi, R., Ten Berg, J. M., Eritsland, J., Budaj, A., Aguiar, C. T., Duplyakov, D., Zavatta, M., Antonijevic, N. M., Fras, Z., Montoliu, A. T., Varenhorst, C., Tsakiris, D., Addad, F., Aydogdu, S., Parkhomenko, A., Kinnaird, T., Andreotti F. (ORCID:0000-0002-1456-6430), Valgimigli, M., Bueno, H., Byrne, R. A., Collet, J. -P., Costa, F., Jeppsson, A., Kastrati, A., Kolh, P., Mauri, L., Montalescot, G., Neumann, F. -J., Petricevic, M., Roffi, M., Steg, P. G., Zamorano, J. L., Levine, G. N., Badimon, L., Vranckx, P., Agewall, S., Andreotti, Felicita, Antman, E., Barbato, E., Bassand, J. -P., Bugiardini, R., Cikirikcioglu, M., Cuisset, T., De Bonis, M., Delgado, V., Fitzsimons, D., Galie, N., Gilard, M., Hamm, C. W., Ibanez, B., James, S., Knuuti, J., Landmesser, U., Leclercq, C., Lettino, M., Lip, G., Piepoli, M. F., Pierard, L., Schwerzmann, M., Sechtem, U., Simpson, I. A., Uva, M. S., Stabile, E., Storey, R. F., Tendera, M., Van De Werf, F., Verheugt, F., Aboyans, V., Windecker, S., Coca, A., Coman, I. M., Dean, V., Gaemperli, O., Hindricks, G., Iung, B., Juni, P., Katus, H. A., Lancellotti, P., Mcdonagh, T., Ponikowski, P., Richter, D. J., Shlyakhto, E., Roithinger, F. X., Aliyev, F., Stelmashok, V., Desmet, W., Postadzhiyan, A., Georghiou, G. P., Motovska, Z., Grove, E. L., Marandi, T., Kiviniemi, T., Kedev, S., Massberg, S., Alexopoulos, D., Kiss, R. G., Gudmundsdottir, I. J., Mcfadden, E. P., Lev, E., De Luca, L., Sugraliyev, A., Haliti, E., Mirrakhimov, E., Latkovskis, G., Petrauskiene, B., Huijnen, S., Magri, C. J., Cherradi, R., Ten Berg, J. M., Eritsland, J., Budaj, A., Aguiar, C. T., Duplyakov, D., Zavatta, M., Antonijevic, N. M., Fras, Z., Montoliu, A. T., Varenhorst, C., Tsakiris, D., Addad, F., Aydogdu, S., Parkhomenko, A., Kinnaird, T., and Andreotti F. (ORCID:0000-0002-1456-6430)

Abstract

N/A

Published
2018

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