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2. M07 Minimal Suspance

Author

Russo, Giancarlo

Abstract

This music score was submitted for the Kaleidoscope 2020 Call for Scores, an open access collaboration with the UCLA Music Library.

Published
2020

3. M20 Spleen

Author

Russo, Giancarlo

Abstract

This music score was submitted for the Kaleidoscope 2020 Call for Scores, an open access collaboration with the UCLA Music Library.

Published
2020

4. 18 Pont Des Amantes

Author

Russo, Giancarlo

Abstract

This music score was submitted for the Kaleidoscope 2020 Call for Scores, an open access collaboration with the UCLA Music Library.

Published
2020

5. Queen Marie - Maria Pia

Author

Russo, Giancarlo

Abstract

This music score was submitted for the Kaleidoscope 2020 Call for Scores, an open access collaboration with the UCLA Music Library.

Published
2020

6. Train assault

Author

Russo, Giancarlo

Abstract

This music score was submitted for the Kaleidoscope 2020 Call for Scores, an open access collaboration with the UCLA Music Library.

Published
2020

9. Analysis of shared heritability in common disorders of the brain

Author

Consortium, The Brainstorm, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K, Walters, Raymond K, Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J, Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A, Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H, Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N, Reitz, Christiane, Goate, Alison M, Huentelman, Matthew J, Kamboh, M Ilyas, Larson, Eric B, Rogaeva, Ekaterina, St George-Hyslop, Peter, Hakonarson, Hakon, Kukull, Walter A, Farrer, Lindsay A, Barnes, Lisa L, Beach, Thomas G, Demirci, F Yesim, Head, Elizabeth, Hulette, Christine M, Jicha, Gregory A, Kauwe, John SK, Kaye, Jeffrey A, Leverenz, James B, Levey, Allan I, Lieberman, Andrew P, Pankratz, Vernon S, Poon, Wayne W, Quinn, Joseph F, Saykin, Andrew J, Schneider, Lon S, Smith, Amanda G, Sonnen, Joshua A, Stern, Robert A, Van Deerlin, Vivianna M, Van Eldik, Linda J, Harold, Denise, Russo, Giancarlo, Rubinsztein, David C, Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C, Hampel, Harald, Owen, Michael J, Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M, Schott, Jonathan M, Rossor, Martin, Lupton, Michelle K, Hoffmann, Per, Kornhuber, Johannes, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C, Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, van der Lee, Sven J, De Jager, Philip L, Geschwind, Daniel H, Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I, Ransmayr, Gerhard, Hyman, Bradley T, Cruchaga, Carlos, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, and Cuenca-Leon, Ester

Subjects
Biological Sciences, Genetics, Biological Psychology, Health Sciences, Psychology, Brain Disorders, Human Genome, Clinical Research, Neurosciences, Mental Illness, Mental Health, 2.1 Biological and endogenous factors, Neurological, Mental health, Brain Diseases, Genetic Variation, Genome-Wide Association Study, Humans, Mental Disorders, Phenotype, Quantitative Trait, Heritable, Risk Factors, Brainstorm Consortium, General Science & Technology
Abstract

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology.

Published
2018

10. Analysis of shared heritability in common disorders of the brain.

Author

Brainstorm Consortium, Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K, Walters, Raymond K, Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J, Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A, Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H, Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N, Reitz, Christiane, Goate, Alison M, Huentelman, Matthew J, Kamboh, M Ilyas, Larson, Eric B, Rogaeva, Ekaterina, St George-Hyslop, Peter, Hakonarson, Hakon, Kukull, Walter A, Farrer, Lindsay A, Barnes, Lisa L, Beach, Thomas G, Demirci, F Yesim, Head, Elizabeth, Hulette, Christine M, Jicha, Gregory A, Kauwe, John SK, Kaye, Jeffrey A, Leverenz, James B, Levey, Allan I, Lieberman, Andrew P, Pankratz, Vernon S, Poon, Wayne W, Quinn, Joseph F, Saykin, Andrew J, Schneider, Lon S, Smith, Amanda G, Sonnen, Joshua A, Stern, Robert A, Van Deerlin, Vivianna M, Van Eldik, Linda J, Harold, Denise, Russo, Giancarlo, Rubinsztein, David C, Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C, Hampel, Harald, Owen, Michael J, Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M, Rossor, Martin, Lupton, Michelle K, Hoffmann, Per, Kornhuber, Johannes, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C, Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, van der Lee, Sven J, De Jager, Philip L, Geschwind, Daniel H, Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I, Ransmayr, Gerhard, Hyman, Bradley T, Cruchaga, Carlos, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, Cuenca-Leon, Ester, and Furlotte, Nicholas

Subjects
Brainstorm Consortium, Humans, Brain Diseases, Risk Factors, Mental Disorders, Quantitative Trait, Heritable, Phenotype, Genetic Variation, Genome-Wide Association Study, Clinical Research, Neurosciences, Rare Diseases, Human Genome, Brain Disorders, Genetics, Mental Health, 2.1 Biological and endogenous factors, Mental health, Neurological, General Science & Technology
Abstract

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology.

Published
2018

18. Precision medicine: a new era for inner ear diseases.

Author

Tavazzani, Elisa, Spaiardi, Paolo, Contini, Donatella, Sancini, Giulio, Russo, Giancarlo, and Masetto, Sergio

Subjects
INNER ear, INNER ear diseases, INDIVIDUALIZED medicine, TARGETED drug delivery, TEMPORAL bone, GENETIC mutation
Abstract

The inner ear is the organ responsible for hearing and balance. Inner ear dysfunction can be the result of infection, trauma, ototoxic drugs, genetic mutation or predisposition. Often, like for Ménière disease, the cause is unknown. Due to the complex access to the inner ear as a fluid-filled cavity within the temporal bone of the skull, effective diagnosis of inner ear pathologies and targeted drug delivery pose significant challenges. Samples of inner ear fluids can only be collected during surgery because the available procedures damage the tiny and fragile structures of the inner ear. Concerning drug administration, the final dose, kinetics, and targets cannot be controlled. Overcoming these limitations is crucial for successful inner ear precision medicine. Recently, notable advancements in microneedle technologies offer the potential for safe sampling of inner ear fluids and local treatment. Ultrasharp microneedles can reach the inner ear fluids with minimal damage to the organ, collect µl amounts of perilymph, and deliver therapeutic agents in loco. This review highlights the potential of ultrasharp microneedles, combined with nano vectors and gene therapy, to effectively treat inner ear diseases of different etiology on an individual basis. Though further research is necessary to translate these innovative approaches into clinical practice, these technologies may represent a true breakthrough in the clinical approach to inner ear diseases, ushering in a new era of personalized medicine. [ABSTRACT FROM AUTHOR]

Published
2024
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20. Spectral element methods for predicting the die-swell of Newtonian and viscoelastic fluids

Author

Russo, Giancarlo

Subjects
519, QA Mathematics
Abstract

This thesis is concerned with the development of numerical methods for free surface problems. In particular, the die-swell problem is analyzed for Newtonian and viscoelastic fluids. For several materials comparisons with experiments are presented. The viscoelastic models explored are the Upper Convective Maxwell model, single and multi-mode Oldroyd-B and the single and multi-mode extended Pom-Pom models. The numerical method employed is based on a spectral element method. The time marching scheme follows a pseudo-transient approach. Discretization in time is performed by means of the Operator Integration Factor Split ting method of first and second order. The free surface evolves according to an Adams-Bashforth scheme of order three. Comparison with first and second order schemes are also presented for the Newtonian case. The vis coelastic scheme is uncoupled. The fully discretized constitutive equation is solved using a Bi-Conjugate Gradient Stabilized method, while the mass and momentum equations are solved simultaneously by means of the Conjugate Gradient method. Preconditioned are used to accelerate the inversion process. The die-swell of a Newtonian fluid is investigated. The physical interpretation of the phenomenon for Newtonian fluids is also revisited, with the goal of reanalyzing findings from the literature and enrich them by means of specifically addressed numerical simulations. The effect of inertia and surface tension are considered. Analysis of convergence is performed and comparison with available results are presented. Numerical simulations of viscoelastic die-swell are performed for the UCM, Oldroyd-B and XPP models. The effect of elasticity is analyzed through the stress fields, normal stress difference, pressure drops and swelling ratios. For the Oldroyd-B and XPP models, several materials are fully characterized for quantitative comparisons. For the XPP model, the effect of orientation and polydispersity on extrusion is discussed.

Published
2009

26. <scp>Single‐molecule real‐time</scp> sequencing of the M protein: Toward personalized medicine in monoclonal gammopathies

Author

Cascino, Pasquale, Nevone, Alice, Piscitelli, Maggie, Scopelliti, Claudia, Girelli, Maria, Mazzini, Giulia, Caminito, Serena, Russo, Giancarlo, Milani, Paolo, Basset, Marco, Foli, Andrea, Fazio, Francesca, Casarini, Simona, Massa, Margherita, Bozzola, Margherita, Ripepi, Jessica, Sesta, Melania Antonietta, Acquafredda, Gloria, De Cicco, Marica, Moretta, Antonia, Rognoni, Paola, Milan, Enrico, Ricagno, Stefano, Lavatelli, Francesca, Petrucci, Maria Teresa, Miho, Enkelejda, Klersy, Catherine, Merlini, Giampaolo, Palladini, Giovanni, Nuvolone, Mario, University of Zurich, Palladini, Giovanni, and Nuvolone, Mario

Subjects
Settore BIO/10 - Biochimica, 2720 Hematology, 10051 Rheumatology Clinic and Institute of Physical Medicine, Paraproteinemias, 570 Life sciences, biology, Humans, 610 Medicine & health, 10071 Functional Genomics Center Zurich, Hematology, Precision Medicine, Multiple Myeloma, 10026 Clinic for Obstetrics, Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica
Published
2022

27. Single‐molecule real‐time sequencing of the M protein: Toward personalized medicine in monoclonal gammopathies

Author

Cascino, Pasquale, primary, Nevone, Alice, additional, Piscitelli, Maggie, additional, Scopelliti, Claudia, additional, Girelli, Maria, additional, Mazzini, Giulia, additional, Caminito, Serena, additional, Russo, Giancarlo, additional, Milani, Paolo, additional, Basset, Marco, additional, Foli, Andrea, additional, Fazio, Francesca, additional, Casarini, Simona, additional, Massa, Margherita, additional, Bozzola, Margherita, additional, Ripepi, Jessica, additional, Sesta, Melania Antonietta, additional, Acquafredda, Gloria, additional, De Cicco, Marica, additional, Moretta, Antonia, additional, Rognoni, Paola, additional, Milan, Enrico, additional, Ricagno, Stefano, additional, Lavatelli, Francesca, additional, Petrucci, Maria Teresa, additional, Miho, Enkelejda, additional, Klersy, Catherine, additional, Merlini, Giampaolo, additional, Palladini, Giovanni, additional, and Nuvolone, Mario, additional

Published
2022
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29. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Author

Kunkle, Brian W., Grenier-Boley, Benjamin, Sims, Rebecca, Bis, Joshua C., Damotte, Vincent, Naj, Adam C., Boland, Anne, Vronskaya, Maria, van der Lee, Sven J., Amlie-Wolf, Alexandre, Bellenguez, Céline, Frizatti, Aura, Chouraki, Vincent, Martin, Eden R., Sleegers, Kristel, Badarinarayan, Nandini, Jakobsdottir, Johanna, Hamilton-Nelson, Kara L., Moreno-Grau, Sonia, Olaso, Robert, Raybould, Rachel, Chen, Yuning, Kuzma, Amanda B., Hiltunen, Mikko, Morgan, Taniesha, Ahmad, Shahzad, Vardarajan, Badri N., Epelbaum, Jacques, Hoffmann, Per, Boada, Merce, Beecham, Gary W., Garnier, Jean-Guillaume, Harold, Denise, Fitzpatrick, Annette L., Valladares, Otto, Moutet, Marie-Laure, Gerrish, Amy, Smith, Albert V., Qu, Liming, Bacq, Delphine, Denning, Nicola, Jian, Xueqiu, Zhao, Yi, Del Zompo, Maria, Fox, Nick C., Choi, Seung-Hoan, Mateo, Ignacio, Hughes, Joseph T., Adams, Hieab H., Malamon, John, Sanchez-Garcia, Florentino, Patel, Yogen, Brody, Jennifer A., Dombroski, Beth A., Naranjo, Maria Candida Deniz, Daniilidou, Makrina, Eiriksdottir, Gudny, Mukherjee, Shubhabrata, Wallon, David, Uphill, James, Aspelund, Thor, Cantwell, Laura B., Garzia, Fabienne, Galimberti, Daniela, Hofer, Edith, Butkiewicz, Mariusz, Fin, Bertrand, Scarpini, Elio, Sarnowski, Chloe, Bush, Will S., Meslage, Stéphane, Kornhuber, Johannes, White, Charles C., Song, Yuenjoo, Barber, Robert C., Engelborghs, Sebastiaan, Sordon, Sabrina, Voijnovic, Dina, Adams, Perrie M., Vandenberghe, Rik, Mayhaus, Manuel, Cupples, L. Adrienne, Albert, Marilyn S., De Deyn, Peter P., Gu, Wei, Himali, Jayanadra J., Beekly, Duane, Squassina, Alessio, Hartmann, Annette M., Orellana, Adelina, Blacker, Deborah, Rodriguez-Rodriguez, Eloy, Lovestone, Simon, Garcia, Melissa E., Doody, Rachelle S., Munoz-Fernadez, Carmen, Sussams, Rebecca, Lin, Honghuang, Fairchild, Thomas J., Benito, Yolanda A., Holmes, Clive, Karamujić-Čomić, Hata, Frosch, Matthew P., Thonberg, Hakan, Maier, Wolfgang, Roshchupkin, Gennady, Ghetti, Bernardino, Giedraitis, Vilmantas, Kawalia, Amit, Li, Shuo, Huebinger, Ryan M., Kilander, Lena, Moebus, Susanne, Hernández, Isabel, Kamboh, M. Ilyas, Brundin, RoseMarie, Turton, James, Yang, Qiong, Katz, Mindy J., Concari, Letizia, Lord, Jenny, Beiser, Alexa S., Keene, C. Dirk, Helisalmi, Seppo, Kloszewska, Iwona, Kukull, Walter A., Koivisto, Anne Maria, Lynch, Aoibhinn, Tarraga, Lluís, Larson, Eric B., Haapasalo, Annakaisa, Lawlor, Brian, Mosley, Thomas H., Lipton, Richard B., Solfrizzi, Vincenzo, Gill, Michael, Longstreth, Jr, W. T., Montine, Thomas J., Frisardi, Vincenza, Diez-Fairen, Monica, Rivadeneira, Fernando, Petersen, Ronald C., Deramecourt, Vincent, Alvarez, Ignacio, Salani, Francesca, Ciaramella, Antonio, Boerwinkle, Eric, Reiman, Eric M., Fievet, Nathalie, Rotter, Jerome I., Reisch, Joan S., Hanon, Olivier, Cupidi, Chiara, Uitterlinden, A. G. Andre, Royall, Donald R., Dufouil, Carole, Maletta, Raffaele Giovanni, de Rojas, Itziar, Sano, Mary, Brice, Alexis, Cecchetti, Roberta, George-Hyslop, Peter St, Ritchie, Karen, Tsolaki, Magda, Tsuang, Debby W., Dubois, Bruno, Craig, David, Wu, Chuang-Kuo, Soininen, Hilkka, Avramidou, Despoina, Albin, Roger L., Fratiglioni, Laura, Germanou, Antonia, Apostolova, Liana G., Keller, Lina, Koutroumani, Maria, Arnold, Steven E., Panza, Francesco, Gkatzima, Olymbia, Asthana, Sanjay, Hannequin, Didier, Whitehead, Patrice, Atwood, Craig S., Caffarra, Paolo, Hampel, Harald, Quintela, Inés, Carracedo, Ángel, Lannfelt, Lars, Rubinsztein, David C., Barnes, Lisa L., Pasquier, Florence, Frölich, Lutz, Barral, Sandra, McGuinness, Bernadette, Beach, Thomas G., Johnston, Janet A., Becker, James T., Passmore, Peter, Bigio, Eileen H., Schott, Jonathan M., Bird, Thomas D., Warren, Jason D., Boeve, Bradley F., Lupton, Michelle K., Bowen, James D., Proitsi, Petra, Boxer, Adam, Powell, John F., Burke, James R., Kauwe, John S. K., Burns, Jeffrey M., Mancuso, Michelangelo, Buxbaum, Joseph D., Bonuccelli, Ubaldo, Cairns, Nigel J., McQuillin, Andrew, Cao, Chuanhai, Livingston, Gill, Carlson, Chris S., Bass, Nicholas J., Carlsson, Cynthia M., Hardy, John, Carney, Regina M., Bras, Jose, Carrasquillo, Minerva M., Guerreiro, Rita, Allen, Mariet, Chui, Helena C., Fisher, Elizabeth, Masullo, Carlo, Crocco, Elizabeth A., DeCarli, Charles, Bisceglio, Gina, Dick, Malcolm, Ma, Li, Duara, Ranjan, Graff-Radford, Neill R., Evans, Denis A., Hodges, Angela, Faber, Kelley M., Scherer, Martin, Fallon, Kenneth B., Riemenschneider, Matthias, Fardo, David W., Heun, Reinhard, Farlow, Martin R., Kölsch, Heike, Ferris, Steven, Leber, Markus, Foroud, Tatiana M., Heuser, Isabella, Galasko, Douglas R., Giegling, Ina, Gearing, Marla, Hüll, Michael, Geschwind, Daniel H., Gilbert, John R., Morris, John, Green, Robert C., Mayo, Kevin, Growdon, John H., Feulner, Thomas, Hamilton, Ronald L., Harrell, Lindy E., Drichel, Dmitriy, Honig, Lawrence S., Cushion, Thomas D., Huentelman, Matthew J., Hollingworth, Paul, Hulette, Christine M., Hyman, Bradley T., Marshall, Rachel, Jarvik, Gail P., Meggy, Alun, Abner, Erin, Menzies, Georgina E., Jin, Lee-Way, Leonenko, Ganna, Real, Luis M., Jun, Gyungah R., Baldwin, Clinton T., Grozeva, Detelina, Karydas, Anna, Russo, Giancarlo, Kaye, Jeffrey A., Kim, Ronald, Jessen, Frank, Kowall, Neil W., Vellas, Bruno, Kramer, Joel H., Vardy, Emma, LaFerla, Frank M., Jöckel, Karl-Heinz, Lah, James J., Dichgans, Martin, Leverenz, James B., Mann, David, Levey, Allan I., Pickering-Brown, Stuart, Lieberman, Andrew P., Klopp, Norman, Lunetta, Kathryn L., Wichmann, H-Erich, Lyketsos, Constantine G., Morgan, Kevin, Marson, Daniel C., Brown, Kristelle, Martiniuk, Frank, Medway, Christopher, Mash, Deborah C., Nöthen, Markus M., Masliah, Eliezer, Hooper, Nigel M., McCormick, Wayne C., Daniele, Antonio, McCurry, Susan M., Bayer, Anthony, McDavid, Andrew N., Gallacher, John, McKee, Ann C., van den Bussche, Hendrik, Mesulam, Marsel, Brayne, Carol, Miller, Bruce L., Riedel-Heller, Steffi, Miller, Carol A., Miller, Joshua W., Al-Chalabi, Ammar, Morris, John C., Shaw, Christopher E., Myers, Amanda J., Wiltfang, Jens, O’Bryant, Sid, Olichney, John M., Alvarez, Victoria, Parisi, Joseph E., Singleton, Andrew B., Paulson, Henry L., Collinge, John, Perry, William R., Mead, Simon, Peskind, Elaine, Cribbs, David H., Rossor, Martin, Pierce, Aimee, Ryan, Natalie S., Poon, Wayne W., Nacmias, Benedetta, Potter, Huntington, Sorbi, Sandro, Quinn, Joseph F., Sacchinelli, Eleonora, Raj, Ashok, Spalletta, Gianfranco, Raskind, Murray, Caltagirone, Carlo, Bossù, Paola, Orfei, Maria Donata, Reisberg, Barry, Clarke, Robert, Reitz, Christiane, Smith, A David, Ringman, John M., Warden, Donald, Roberson, Erik D., Wilcock, Gordon, Rogaeva, Ekaterina, Bruni, Amalia Cecilia, Rosen, Howard J., Gallo, Maura, Rosenberg, Roger N., Ben-Shlomo, Yoav, Sager, Mark A., Mecocci, Patrizia, Saykin, Andrew J., Pastor, Pau, Cuccaro, Michael L., Vance, Jeffery M., Schneider, Julie A., Schneider, Lori S., Slifer, Susan, Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Swerdlow, Russell H., Tang, Mitchell, Tanzi, Rudolph E., Trojanowski, John Q., Troncoso, Juan C., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Wilhelmsen, Kirk C., Williamson, Jennifer, Wingo, Thomas S., Woltjer, Randall L., Wright, Clinton B., Yu, Chang-En, Yu, Lei, Saba, Yasaman, Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Pilotto, Alberto, Bullido, Maria J., Peters, Oliver, Crane, Paul K., Bennett, David, Bosco, Paola, Coto, Eliecer, Boccardi, Virginia, De Jager, Phil L., Lleo, Alberto, Warner, Nick, Lopez, Oscar L., Ingelsson, Martin, Deloukas, Panagiotis, Cruchaga, Carlos, Graff, Caroline, Gwilliam, Rhian, Fornage, Myriam, Goate, Alison M., Sanchez-Juan, Pascual, Kehoe, Patrick G., Amin, Najaf, Ertekin-Taner, Nilifur, Berr, Claudine, Debette, Stéphanie, Love, Seth, Launer, Lenore J., Younkin, Steven G., Dartigues, Jean-Francois, Corcoran, Chris, Ikram, M. Arfan, Dickson, Dennis W., Nicolas, Gael, Campion, Dominique, Tschanz, JoAnn, Schmidt, Helena, Hakonarson, Hakon, Clarimon, Jordi, Munger, Ron, Schmidt, Reinhold, Farrer, Lindsay A., Van Broeckhoven, Christine, O’Donovan, Michael C., DeStefano, Anita L., Jones, Lesley, Haines, Jonathan L., Deleuze, Jean-Francois, Owen, Michael J., Gudnason, Vilmundur, Mayeux, Richard, Escott-Price, Valentina, Psaty, Bruce M., Ramirez, Alfredo, Wang, Li-San, Ruiz, Agustin, van Duijn, Cornelia M., Holmans, Peter A., Seshadri, Sudha, Williams, Julie, Amouyel, Phillippe, Schellenberg, Gerard D., Lambert, Jean-Charles, and Pericak-Vance, Margaret A.

Published
2019
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32. Role of HSP70 in response to (thermo)radiotherapy : analysis of gene expression in canine osteosarcoma cells by RNA-seq

Author

Nytko, Katarzyna J., Thumser-Henner, Pauline, Russo, Giancarlo, Weyland, Mathias S., Rohrer Bley, Carla, Nytko, Katarzyna J., Thumser-Henner, Pauline, Russo, Giancarlo, Weyland, Mathias S., and Rohrer Bley, Carla

Abstract

Pre-treatment of tumors with hyperthermia is often used to increase the efficacy of radiotherapy. One of the main proteins induced in response to hyperthermia is heat shock protein 70 (HSP70). The aim of our study was to investigate up- and down-regulated genes in response to (thermo)radiotherapy in HSP70 proficient and deficient canine osteosarcoma cell line (Abrams), and functional role of HSP70 in the mechanism of thermoradiosensitization. Cells were transfected with negative control siRNA or siRNA targeting HSP70 and treated with hyperthermia (HT), radiotherapy (RT), and thermoradiotherapy (HTRT). RNA sequencing was used to analyze gene expression. Hyperthermia and thermoradiotherapy, but not radiotherapy alone, induced differential gene expression. We identified genes differentially expressed only in HSP70 knockdown (thus HSP70-dependent) cells in response to hyperthermia and thermoradiotherapy. Interestingly, cell proliferation but not clonogenicity and apoptosis/necrosis was affected by the HSP70 knockdown in response to thermoradiotherapy. The results suggest that HSP70 regulates expression of specific genes in response to hyperthermia and thermoradiotherapy. Further investigations into the role of specific genes regulated in a HSP70-dependent manner in response to thermoradiotherapy could pave a way into new, combinatorial treatment options for (canine) osteosarcoma and other cancer types.

Published
2022

33. Dissection of Besnoitia besnoiti intermediate host life cycle stages: From morphology to gene expression

Author

Coppens, Isabelle, Coppens, I ( Isabelle ), Ramakrishnan, Chandra; https://orcid.org/0000-0002-2277-2373, Krishnan, Aarti, Francisco, Samuel, Schmid, Marc W; https://orcid.org/0000-0001-9554-5318, Russo, Giancarlo; https://orcid.org/0000-0003-0707-2640, Leitão, Alexandra, Hemphill, Andrew; https://orcid.org/0000-0002-0622-2128, Soldati-Favre, Dominique; https://orcid.org/0000-0003-4156-2109, Hehl, Adrian B; https://orcid.org/0000-0002-2110-4445, Coppens, Isabelle, Coppens, I ( Isabelle ), Ramakrishnan, Chandra; https://orcid.org/0000-0002-2277-2373, Krishnan, Aarti, Francisco, Samuel, Schmid, Marc W; https://orcid.org/0000-0001-9554-5318, Russo, Giancarlo; https://orcid.org/0000-0003-0707-2640, Leitão, Alexandra, Hemphill, Andrew; https://orcid.org/0000-0002-0622-2128, Soldati-Favre, Dominique; https://orcid.org/0000-0003-4156-2109, and Hehl, Adrian B; https://orcid.org/0000-0002-2110-4445

Abstract

Cyst-forming Apicomplexa (CFA) of the Sarcocystidae have a ubiquitous presence as pathogens of humans and farm animals transmitted through the food chain between hosts with few notable exceptions. The defining hallmark of this family of obligate intracellular protists consists of their ability to remain for very long periods as infectious tissue cysts in chronically infected intermediate hosts. Nevertheless, each closely related species has evolved unique strategies to maintain distinct reservoirs on global scales and ensuring efficient transmission to definitive hosts as well as between intermediate hosts. Here, we present an in-depth comparative mRNA expression analysis of the tachyzoite and bradyzoite stages of Besnoitia besnoiti strain Lisbon14 isolated from an infected farm animal based on its annotated genome sequence. The B. besnoiti genome is highly syntenic with that of other CFA and also retains the capacity to encode a large majority of known and inferred factors essential for completing a sexual cycle in a yet unknown definitive host. This work introduces Besnoitia besnoiti as a new model for comparative biology of coccidian tissue cysts which can be readily obtained in high purity. This model provides a framework for addressing fundamental questions about the evolution of tissue cysts and the biology of this pharmacologically intractable infectious parasite stage.

Published
2022

34. Alkali therapy protects renal function, suppresses inflammation, and improves cellular metabolism in kidney disease

Author

Pastor Arroyo, Eva Maria, Yassini, Nima, Sakiri, Elif, Russo, Giancarlo, Bourgeois, Soline, Mohebbi, Nilufar, Amann, Kerstin, Joller, Nicole; https://orcid.org/0000-0003-1996-1672, Wagner, Carsten A, Imenez Silva, Pedro Henrique; https://orcid.org/0000-0002-2805-3601, Pastor Arroyo, Eva Maria, Yassini, Nima, Sakiri, Elif, Russo, Giancarlo, Bourgeois, Soline, Mohebbi, Nilufar, Amann, Kerstin, Joller, Nicole; https://orcid.org/0000-0003-1996-1672, Wagner, Carsten A, and Imenez Silva, Pedro Henrique; https://orcid.org/0000-0002-2805-3601

Abstract

Chronic kidney disease (CKD) affects approximately 10–13% of the population worldwide and halting its progression is a major clinical challenge. Metabolic acidosis is both a consequence and a possible driver of CKD progression. Alkali therapy counteracts these effects in CKD patients, but underlying mechanisms remain incompletely understood. Here we show that bicarbonate supplementation protected renal function in a murine CKD model induced by an oxalate-rich diet. Alkali therapy had no effect on the aldosterone–endothelin axis but promoted levels of the anti-aging protein klotho; moreover, it suppressed adhesion molecules required for immune cell invasion along with reducing T-helper cell and inflammatory monocyte invasion. Comparing transcriptomes from the murine crystallopathy model and from human biopsies of kidney transplant recipients (KTRs) suffering from acidosis with or without alkali therapy unveils parallel transcriptome responses mainly associated with lipid metabolism and oxidoreductase activity. Our data reveal novel pathways associated with acidosis in kidney disease and sensitive to alkali therapy and identifies potential targets through which alkali therapy may act on CKD and that may be amenable for more targeted therapies.

Published
2022

35. Differential Expression of Serum Extracellular Vesicle miRNAs in Multiple Sclerosis: Disease-Stage Specificity and Relevance to Pathophysiology

Author

Cuomo-Haymour, Nagiua, Bergamini, Giorgio, Russo, Giancarlo, Kulic, Luka, Knuesel, Irene, Martin, Roland; https://orcid.org/0000-0002-0982-1329, Huss, André; https://orcid.org/0000-0002-2761-7591, Tumani, Hayrettin; https://orcid.org/0000-0002-1647-6201, Otto, Markus, Pryce, Christopher R; https://orcid.org/0000-0002-5614-4690, Cuomo-Haymour, Nagiua, Bergamini, Giorgio, Russo, Giancarlo, Kulic, Luka, Knuesel, Irene, Martin, Roland; https://orcid.org/0000-0002-0982-1329, Huss, André; https://orcid.org/0000-0002-2761-7591, Tumani, Hayrettin; https://orcid.org/0000-0002-1647-6201, Otto, Markus, and Pryce, Christopher R; https://orcid.org/0000-0002-5614-4690

Abstract

Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease of the central nervous system (CNS). Its first clinical presentation (clinically isolated syndrome, CIS) is often followed by the development of relapsing–remitting MS (RRMS). The periphery-to-CNS transmission of inflammatory molecules is a major pathophysiological pathway in MS. This could include signalling via extracellular vesicle (EV) microRNAs (miRNAs). In this study, we investigated the serum EV miRNome in CIS and RRMS patients and matched controls, with the aims to identify MS stage-specific differentially expressed miRNAs and investigate their biomarker potential and pathophysiological relevance. miRNA sequencing was conducted on serum EVs from CIS-remission, RRMS-relapse, and viral inflammatory CNS disorder patients, as well as from healthy and hospitalized controls. Differential expression analysis was conducted, followed by predictive power and target-pathway analysis. A moderate number of dysregulated serum EV miRNAs were identified in CIS-remission and RRMS-relapse patients, especially relative to healthy controls. Some of these miRNAs were also differentially expressed between the two MS stages and had biomarker potential for patient-control and CIS–RRMS separations. For the mRNA targets of the RRMS-relapse-specific EV miRNAs, biological processes inherent to MS pathophysiology were identified using in silico analysis. Study findings demonstrate that specific serum EV miRNAs have MS stage-specific biomarker potential and contribute to the identification of potential targets for novel, efficacious therapies.

Published
2022

36. Evidence for Effects of Extracellular Vesicles on Physical, Inflammatory, Transcriptome and Reward Behaviour Status in Mice

Author

Cuomo-Haymour, Nagiua, Sigrist, Hannes, Ineichen, Christian; https://orcid.org/0000-0002-6087-0644, Russo, Giancarlo, Nüesch, Ursina, Gantenbein, Felix, Kulic, Luka, Knuesel, Irene, Bergamini, Giorgio, Pryce, Christopher Robert; https://orcid.org/0000-0002-5614-4690, Cuomo-Haymour, Nagiua, Sigrist, Hannes, Ineichen, Christian; https://orcid.org/0000-0002-6087-0644, Russo, Giancarlo, Nüesch, Ursina, Gantenbein, Felix, Kulic, Luka, Knuesel, Irene, Bergamini, Giorgio, and Pryce, Christopher Robert; https://orcid.org/0000-0002-5614-4690

Abstract

Immune-inflammatory activation impacts extracellular vesicles (EVs), including their miRNA cargo. There is evidence for changes in the EV miRNome in inflammation-associated neuropsychiatric disorders. This mouse study investigated: (1) effects of systemic lipopolysaccharide (LPS) and chronic social stress (CSS) on plasma EV miRNome; and (2) physiological, transcriptional, and behavioural effects of peripheral or central delivered LPS-activated EVs in recipient mice. LPS or CSS effects on the plasma EV miRNome were assessed by using microRNA sequencing. Recipient mice received plasma EVs isolated from LPS-treated or SAL-treated donor mice or vehicle only, either intravenously or into the nucleus accumbens (NAc), on three consecutive days. Bodyweight, spleen or NAc transcriptome and reward (sucrose) motivation were assessed. LPS and CSS increased the expression of 122 and decreased expression of 20 plasma EV miRNAs, respectively. Peripheral LPS-EVs reduced bodyweight, and both LPS-EVs and SAL-EVs increased spleen expression of immune-relevant genes. NAc-infused LPS-EVs increased the expression of 10 immune-inflammatory genes. Whereas motivation increased similarly across test days in all groups, the effect of test days was more pronounced in mice that received peripheral or central LPS-EVs compared with other groups. This study provides causal evidence that increased EV levels impact physiological and behavioural processes and are of potential relevance to neuropsychiatric disorders.

Published
2022

37. Pimozide Increases a Delayed Rectifier K + Conductance in Chicken Embryo Vestibular Hair Cells.

Author

Giunta, Roberta, Cheli, Giulia, Spaiardi, Paolo, Russo, Giancarlo, and Masetto, Sergio

Subjects
HAIR cells, CHICKEN embryos, TOURETTE syndrome, NEURAL transmission, ARRHYTHMIA
Abstract

Pimozide is a conventional antipsychotic drug largely used in the therapy for schizophrenia and Tourette's syndrome. Pimozide is assumed to inhibit synaptic transmission at the CNS by acting as a dopaminergic D2 receptor antagonist. Moreover, pimozide has been shown to block voltage-gated Ca2+ and K+ channels in different cells. Despite its widespread clinical use, pimozide can cause several adverse effects, including extrapyramidal symptoms and cardiac arrhythmias. Dizziness and loss of balance are among the most common side effects of pimozide. By using the patch-clamp whole-cell technique, we investigated the effect of pimozide [3 μM] on K+ channels expressed by chicken embryo vestibular type-II hair cells. We found that pimozide slightly blocks a transient outward rectifying A-type K+ current but substantially increases a delayed outward rectifying K+ current. The net result was a significant hyperpolarization of type-II hair cells at rest and a strong reduction of their response to depolarizing stimuli. Our findings are consistent with an inhibitory effect of pimozide on the afferent synaptic transmission by type-II hair cells. Moreover, they provide an additional key to understanding the beneficial/collateral pharmacological effects of pimozide. The finding that pimozide can act as a K+ channel opener provides a new perspective for the use of this drug. [ABSTRACT FROM AUTHOR]

Published
2023
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39. Additional file 5 of Competition-cooperation in the chemoautotrophic ecosystem of Movile Cave: first metagenomic approach on sediments

Author

Chiciudean, Iulia, Russo, Giancarlo, Bogdan, Diana Felicia, Levei, Erika Andrea, Faur, Luchiana, Hillebrand-Voiculescu, Alexandra, Moldovan, Oana Teodora, and Banciu, Horia Leonard

Abstract

Additional file 5. Fig. S2 The number of reads from the 7 metagenomes mapped back to the reference sequences of the marker genes. Fig. S3 The overall number of reads per metagenome mapped to the reference sequences of all considered marker genes (nitrogen fixation (nifH/D/K), carbon fixation (cbbL/S, aclA/B, acsA(cooS)/B)). Table S10. Reference sequences for the marker genes used in predicting nitrogen and carbon fixation potential in sediments of Movile Cave based on the metagenomic read mapping analysis.

Published
2022
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40. Additional file 2 of Competition-cooperation in the chemoautotrophic ecosystem of Movile Cave: first metagenomic approach on sediments

Author

Chiciudean, Iulia, Russo, Giancarlo, Bogdan, Diana Felicia, Levei, Erika Andrea, Faur, Luchiana, Hillebrand-Voiculescu, Alexandra, Moldovan, Oana Teodora, and Banciu, Horia Leonard

Abstract

Additional file 2. Table S1 Minimal media composition used in the reconstruction of metaGEMs and community simulations. Minimal compounds (primarily inorganic) that may be in the inorganic environment or can result from microbial metabolic traits (e.g., sulfur and nitrogen oxidation/reduction, CO2 fixation, methanotrophy) previously shown in Movile Cave environment. The compound name and abbreviation are in accordance with the BIGG database (http://bigg.ucsd.edu/ ). Table S2 Metagenome scale metabolic models (metaGEMs) reconstruction and community simulation parameters, results generated and used in this study. Table S3 Codes used for CarveMe v.1.5.1 [41] metabolic model reconstructions (metaGEMs) and SMETANA v.1.1.0 [43] community simulations.

Published
2022
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41. Additional file 1 of Competition-cooperation in the chemoautotrophic ecosystem of Movile Cave: first metagenomic approach on sediments

Author

Chiciudean, Iulia, Russo, Giancarlo, Bogdan, Diana Felicia, Levei, Erika Andrea, Faur, Luchiana, Hillebrand-Voiculescu, Alexandra, Moldovan, Oana Teodora, and Banciu, Horia Leonard

Abstract

Additional file 1. Fig. S1 The display of sediment samples collected from Movile Cave. Photographic images of the sediments.

Published
2022
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46. Single Molecule Real-Time Sequencing of the M Protein (SMaRT M-Seq): Toward Personalized Medicine Approaches in Monoclonal Gammopathies

Author

Cascino, Pasquale, primary, Nevone, Alice, additional, Scopelliti, Claudia, additional, Girelli, Maria, additional, Mazzini, Giulia, additional, Caminito, Serena, additional, Russo, Giancarlo, additional, Milani, Paolo, additional, Basset, Marco, additional, Foli, Andrea, additional, Fazio, Francesca, additional, Casarini, Simona, additional, Massa, Margherita, additional, Bozzola, Margherita, additional, Ripepi, Jessica, additional, Sesta, Melania Antonietta, additional, Acquafredda, Gloria, additional, De Cicco, Marica, additional, Moretta, Antonia, additional, Rognoni, Paola, additional, Milan, Enrico, additional, Ricagno, Stefano, additional, Lavatelli, Francesca, additional, Petrucci, Maria Teresa, additional, Klersy, Catherine, additional, Merlini, Giampaolo, additional, Palladini, Giovanni, additional, and Nuvolone, Mario, additional

Published
2021
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48. Acidosis and alkali therapy in patients with kidney transplant is associated with transcriptional changes and altered abundance of genes involved in cell metabolism and acid–base balance

Author

Imenez Silva, Pedro H, primary, Wiegand, Anna, additional, Daryadel, Arezoo, additional, Russo, Giancarlo, additional, Ritter, Alexander, additional, Gaspert, Ariana, additional, Wüthrich, Rudolf P, additional, Wagner, Carsten A, additional, and Mohebbi, Nilufar, additional

Published
2021
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50. FC 001ACIDOSIS AND ALKALI THERAPY ARE ASSOCIATED WITH TRANSCRIPTIONAL CHANGES AND ALTERED ABUNDANCE OF GENES INVOLVED IN CELL METABOLISM AND BICARBONATE TRANSPORT IN KIDNEY TRANSPLANT RECIPIENTS

Author

Imenez Silva, Pedro Henrique, primary, Wiegand, Anna, additional, Daryadel, Arezoo, additional, Gaspert, Ariana, additional, Russo, Giancarlo, additional, Wuthrich, Rudolf Peter, additional, Wagner, Carsten, additional, and Mohebbi, Nilufar, additional

Published
2021
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