285 results on '"Miraglia F"'
Search Results
2. Early diagnosis of Alzheimer’s disease: the role of biomarkers including advanced EEG signal analysis. Report from the IFCN-sponsored panel of experts
- Author
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Rossini, P.M., Di Iorio, R., Vecchio, F., Anfossi, M., Babiloni, C., Bozzali, M., Bruni, A.C., Cappa, S.F., Escudero, J., Fraga, F.J., Giannakopoulos, P., Guntekin, B., Logroscino, G., Marra, C., Miraglia, F., Panza, F., Tecchio, F., Pascual-Leone, A., and Dubois, B.
- Published
- 2020
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3. Methods for analysis of brain connectivity: An IFCN-sponsored review
- Author
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Rossini, P.M., Di Iorio, R., Bentivoglio, M., Bertini, G., Ferreri, F., Gerloff, C., Ilmoniemi, R.J., Miraglia, F., Nitsche, M.A., Pestilli, F., Rosanova, M., Shirota, Y., Tesoriero, C., Ugawa, Y., Vecchio, F., Ziemann, U., and Hallett, M.
- Published
- 2019
- Full Text
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4. Whole genome sequencing reveals host factors underlying critical Covid-19
- Author
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Kousathanas, A., Pairo-Castineira, E., Rawlik, K., Stuckey, A., Odhams, C. A., Walker, S., Russell, C. D., Malinauskas, T., Wu, Y., Millar, J., Shen, X., Elliott, K. S., Griffiths, F., Oosthuyzen, W., Morrice, K., Keating, S., Wang, B., Rhodes, D., Klaric, L., Zechner, M., Parkinson, N., Siddiq, A., Goddard, P., Donovan, S., Maslove, D., Nichol, A., Semple, M. G., Zainy, T., Maleady-Crowe, F., Todd, L., Salehi, S., Knight, J., Elgar, G., Chan, G., Arumugam, P., Patch, C., Rendon, A., Bentley, D., Kingsley, C., Kosmicki, J. A., Horowitz, J. E., Baras, A., Abecasis, G. R., Ferreira, M. A. R., Justice, A., Mirshahi, T., Oetjens, M., Rader, D. J., Ritchie, M. D., Verma, A., Fowler, T. A., Shankar-Hari, M., Summers, C., Hinds, C., Horby, P., Mcauley, D., Montgomery, H., Openshaw, P. J. M., Elliott, P., Walsh, T., Tenesa, A., Fawkes, A., Murphy, L., Rowan, K., Ponting, C. P., Vitart, V., Wilson, J. F., Yang, J., Bretherick, A. D., Scott, R. H., Hendry, S. C., Moutsianas, L., Law, A., Caulfield, M. J., Baillie, J. K., Begg, C., Ling, L., Pereira, A. C., Aravindan, L., Armstrong, R., Biggs, H., Boz, C., Brown, A., Clark, R., Coutts, A., Coyle, J., Cullum, L., Das, S., Day, N., Donnelly, L., Duncan, E., Finernan, P., Fourman, M. H., Furlong, A., Furniss, J., Gallagher, B., Gilchrist, T., Golightly, A., Hafezi, K., Hamilton, D., Hendry, R., Law, D., Law, R., Law, S., Lidstone-Scott, R., Macgillivray, L., Maclean, A., Mal, H., Mccafferty, S., Mcmaster, E., Meikle, J., Moore, S. C., Murphy, S., Hellen, M., Zheng, C., Chen, J., Paterson, T., Schon, K., Stenhouse, A., Das, M., Swets, M., Szoor-McElhinney, H., Taneski, F., Turtle, L., Wackett, T., Ward, M., Weaver, J., Wrobel, N., Arbane, G., Bociek, A., Campos, S., Grau, N., Jones, T. O., Lim, R., Marotti, M., Ostermann, M., Whitton, C., Alldis, Z., Astin-Chamberlain, R., Bibi, F., Biddle, J., Blow, S., Bolton, M., Borra, C., Bowles, R., Burton, M., Choudhury, Y., Collier, D., Cox, A., Easthope, A., Ebano, P., Fotiadis, S., Gurasashvili, J., Halls, R., Hartridge, P., Kallon, D., Kassam, J., Lancoma-Malcolm, I., Matharu, M., May, P., Mitchelmore, O., Newman, T., Patel, M., Pheby, J., Pinzuti, I., Prime, Z., Prysyazhna, O., Shiel, J., Taylor, M., Tierney, C., Wood, S., Zak, A., Zongo, O., Bonner, S., Hugill, K., Jones, J., Liggett, S., Headlam, E., Bandla, N., Gellamucho, M., Davies, M., Thompson, C., Abdelrazik, M., Bakthavatsalam, D., Elhassan, M., Ganesan, A., Haldeos, A., Moreno-Cuesta, J., Purohit, D., Vincent, R., Xavier, K., Kumar, R., Frater, Alessia, Saleem, M., Carter, D., Jenkins, S., Lamond, Z., Wall, A., Fernandez-Roman, J., Hamilton, D. O., Johnson, E., Johnston, B., Martinez Guzman, Maria Loreto, Mulla, S., Shaw, D., Waite, A. A. C., Waugh, V., Welters, I. D., Williams, K., Cavazza, A., Cockrell, M., Corcoran, E., Depante, M., Finney, C., Jerome, E., Mcphail, M., Nayak, M., Noble, H., O'Reilly, K., Pappa, E., Saha, R., Saha, S., Smith, Jenovia Amisti, Knighton, A., Antcliffe, D., Banach, D., Brett, S., Coghlan, P., Fernandez, Z., Gordon, A., Rojo, R., Arias, S. S., Templeton, M., Meredith, M., Morris, L., Ryan, L., Clark, A., Sampson, J., Peters, C., Dent, M., Langley, M., Ashraf, Sana, Wei, S., Andrew, A., Bashyal, A., Davidson, N., Hutton, P., Mckechnie, S., Wilson, J., Baptista, D., Crowe, R., Fernandes, R., Herdman-Grant, R., Joseph, A., O'Connor, D., Allen, M., Loveridge, A., Mckenley, I., Morino, E., Naranjo, A., Simms, R., Sollesta, K., Swain, A., Venkatesh, H., Khera, J., Fox, J., Andrew, G., Barclay, L., Callaghan, M., Campbell, R., Clark, S., Hope, D., Marshall, L., Mcculloch, C., Briton, K., Singleton, J., Birch, S., Brimfield, L., Daly, Z., Pogson, D., Rose, S., Nown, A., Battle, C., Brinkworth, E., Harford, R., Murphy, C., Newey, L., Rees, T., Williams, M., Arnold, S., Polgarova, P., Stroud, K., Meaney, E., Jones, M., Ng, A., Agrawal, S., Pathan, N., White, D., Daubney, E., Elston, K., Grauslyte, L., Hussain, M., Phull, M., Pogreban, T., Rosaroso, L., Salciute, E., Franke, G., Wong, J., George, A., de Gordoa, L. O. -R., Peasgood, E., Phillips, C., Bates, M., Dasgin, J., Gill, J., Nilsson, A., Scriven, J., Collins, A., Khaliq, W., Gude, E. T., Delgado, C. C., Dawson, D., Ding, L., Durrant, G., Ezeobu, O., Farnell-Ward, S., Harrison, A., Kanu, R., Leaver, S., Maccacari, E., Manna, S., Saluzzio, R. P., Queiroz, J., Samakomva, T., Sicat, C., Texeira, J., Da Gloria, E. F., Lisboa, A., Rawlins, J., Mathew, J., Kinch, A., Hurt, W. J., Shah, N., Clark, V., Thanasi, M., Yun, N., Patel, K., Bennett, S., Goodwin, E., Jackson, M., Kent, A., Tibke, C., Woodyatt, W., Zaki, A., Abraheem, A., Bamford, P., Cawley, K., Dunmore, C., Faulkner, M., Girach, R., Jeffrey, H., Jones, R., London, E., Nagra, I., Nasir, F., Sainsbury, H., Smedley, C., Patel, T., Smith, M., Chukkambotla, S., Kazi, A., Hartley, J., Dykes, J., Hijazi, M., Keith, S., Khan, M., Ryan-Smith, J., Springle, P., Thomas, J., Truman, N., Saad, S., Coleman, D., Fine, C., Matt, R., Gay, B., Dalziel, J., Ali, S., Goodchild, D., Harling, R., Bhatterjee, R., Goddard, W., Davison, C., Duberly, S., Hargreaves, J., Bolton, R., Davey, M., Golden, D., Seaman, R., Cherian, S., Cutler, S., Heron, A. E., Roynon-Reed, A., Szakmany, T., Williams, G., Richards, O., Cheema, Y., Brooke, H., Buckley, S., Suarez, J. C., Charlesworth, R., Hansson, K., Norris, J., Poole, A., Rose, A., Sandhu, R., Sloan, B., Smithson, E., Thirumaran, M., Wagstaff, V., Metcalfe, A., Brunton, M., Caterson, J., Coles, H., Frise, M., Rai, S. G., Jacques, N., Keating, L., Tilney, E., Bartley, S., Bhuie, P., Gibson, S., Lyle, A., Mcneela, F., Radhakrishnan, J., Hughes, A., Yates, B., Reynolds, J., Campbell, H., Thompsom, M., Dodds, S., Duffy, S., Greer, S., Shuker, K., Tridente, A., Khade, R., Sundar, A., Tsinaslanidis, G., Birkinshaw, I., Carter, J., Howard, K., Ingham, J., Joy, R., Pearson, H., Roche, S., Scott, Z., Bancroft, H., Bellamy, M., Carmody, M., Daglish, J., Moore, F., Rhodes, J., Sangombe, M., Kadiri, S., Croft, M., White, I., Frost, V., Aquino, M., Jha, R., Krishnamurthy, V., Lim, L., Combes, E., Joefield, T., Monnery, S., Beech, V., Trotman, S., Christine, Almaden-Boyle, Austin, P., Cabrelli, L., Cole, S., Casey, M., Chapman, S., Whyte, C., Baird, Y., Butler, A., Chadbourn, I., Folkes, L., Fox, H., Gardner, A., Gomez, R., Hobden, G., Hodgson, L., King, K., Margarson, M., Martindale, T., Meadows, E., Raynard, D., Thirlwall, Y., Helm, D., Margalef, J., Criste, K., Cusack, R., Golder, K., Golding, H., Jones, O., Leggett, S., Male, M., Marani, M., Prager, K., Williams, T., Roberts, B., Salmon, K., Anderson, P., Archer, K., Austin, K., Davis, C., Durie, A., Kelsall, O., Thrush, J., Vigurs, C., Wild, L., Wood, H. -L., Tranter, H., Cowley, N., Mcalindon, M., Burtenshaw, A., Digby, S., Low, E., Morgan, A., Cother, N., Rankin, T., Clayton, S., Mccurdy, A., Ahmed, C., Baines, B., Clamp, S., Colley, J., Haq, R., Hayes, A., Hulme, J., Hussain, S., Joseph, S., Maqsood, Z., Purewal, M., Benham, L., Bradshaw, Z., Brown, J., Caswell, M., Cupitt, J., Melling, S., Preston, S., Slawson, N., Stoddard, E., Warden, S., Deacon, B., Lynch, C., Pothecary, C., Roche, L., Howe, G. S., Singh, Jaywant, Turner, K., Ellis, H., Stroud, N., Hunt, J., Dearden, J., Dobson, E., Drummond, A., Mulcahy, M., Munt, S., O'Connor, G., Philbin, J., Rishton, C., Tully, R., Winnard, S., Cathcart, S., Duffy, K., Puxty, A., Puxty, K., Turner, L., Ireland, J., Semple, G., Long, K., Whiteley, S., Wilby, E., Ogg, B., Cowton, A., Kay, Abigail, Kent, M., Potts, K., Wilkinson, A., Campbell, S., Brown, E., Melville, J., Naisbitt, J., Joseph, R., Lazo, M., Walton, O., Neal, A., Alexander, P., Allen, S., Bradley-Potts, J., Brantwood, C., Egan, J., Felton, T., Padden, G., Ward, L., Moss, S., Glasgow, S., Abel, L., Brett, M., Digby, B., Gemmell, L., Hornsby, J., Macgoey, P., O'Neil, P., Price, R., Rodden, N., Rooney, K., Sundaram, R., Thomson, N., Hopkins, B., Thrasyvoulou, L., Willis, H., Clark, M., Coulding, M., Jude, E., Mccormick, J., Mercer, O., Potla, D., Rehman, H., Savill, H., Turner, V., Downes, C., Holding, K., Riches, K., Hilton, M., Hayman, M., Subramanian, D., Daniel, P., Adanini, O., Bhatia, N., Msiska, M., Collins, R., Clement, I., Patel, B., Gulati, A., Hays, C., Webster, K., Hudson, A., Webster, A., Stephenson, E., Mccormack, L., Slater, V., Nixon, R., Hanson, H., Fearby, M., Kelly, S., Bridgett, V., Robinson, P., Camsooksai, J., Humphrey, C., Reschreiter, H., Wadams, B., Death, Y., Bastion, V., Clarke, D., David, B., Kent, H., Lorusso, Riccardo, Lubimbi, G., Murdoch, S., Penacerrada, M., Thomas, A., Valentine, J., Vochin, A., Wulandari, R., Djeugam, B., Bell, G., English, K., Katary, A., Wilcox, L., Bruce, M., Connolly, K., Duncan, T., Michael, H. T., Lindergard, G., Hey, S., Fox, C., Alfonso, J., Durrans, L. 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N., Pearson, S., Potoczna, D., Spencer, S., Clapham, M., Harper, R., Poultney, U., Rice, P., Mutch, R., Armstrong, L., Bates, H., Dooks, E., Farquhar, F., Hairsine, B., Packham, S., Bi, R., Scholefield, B., Ashton, L., George, L., Twiss, S., Wright, D., Chablani, M., Kirkby, A., Netherton, K., Davies, K., O'Brien, L., Omar, Z., Otahal, I., Perkins, E., Lewis, T., Sutherland, I., Burns, K., Chandler, B., Elliott, K., Mallinson, J., Turnbull, A., Gondo, P., Hadebe, B., Kayani, A., Masunda, B., Anderson, T., Hawcutt, D., O'Malley, L., Rad, L., Rogers, N., Saunderson, P., Allison, K. S., Afolabi, D., Whitbread, J., Jones, D., Dore, R., Halkes, M., Mercer, P., Thornton, L., Dawson, J., Garrioch, S., Tolson, M., Aldridge, J., Kapoor, R., Loader, D., Castle, K., Humphreys, S., Tampsett, R., Mackintosh, K., Ayers, A., Harrison, W., North, J., Allibone, S., Genetu, R., Kasipandian, V., Patel, A., Mac, A., Murphy, A., Mahjoob, P., Nazari, R., Worsley, L., Fagan, A., Bemand, T., Black, E., Rosa, A. D., Howle, R., Jhanji, S., Baikady, R. R., Tatham, K. C., Thomas, B., Bell, D., Boyle, R., Douglas, K., Glass, L., Lee, E., Lennon, L., Rattray, A., Taylor, Anita, Hughes, R. 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Forgetta, V, Morrison, D, Ghosh, B, Laurent, L, Belisle, A, Henry, D, Abdullah, T, Adeleye, O, Mamlouk, N, Kimchi, N, Afrasiabi, Z, Rezk, N, Vulesevic, B, Bouab, M, Guzman, C, Petitjean, L, Tselios, C, Xue, X, Schurr, E, Afilalo, J, Afilalo, M, Oliveira, M, Brenner, B, Lepage, P, Ragoussis, J, Auld, D, Brassard, N, Durand, M, Chasse, M, Kaufmann, D, Lathrop, G, Mooser, V, Richards, J, Li, R, Adra, D, Rahmouni, S, Georges, M, Moutschen, M, Misset, B, Darcis, G, Guiot, J, Guntz, J, Azarzar, S, Gofflot, S, Beguin, Y, Claassen, S, Malaise, O, Huynen, P, Meuris, C, Thys, M, Jacques, J, Leonard, P, Frippiat, F, Giot, J, Sauvage, A, von Frenckell, C, Belhaj, Y, Lambermont, B, Pigazzini, S, Nkambule, L, Daya, M, Shortt, J, Rafaels, N, Wicks, S, Crooks, K, Barnes, K, Gignoux, C, Chavan, S, Laisk, T, Lall, K, Lepamets, M, Magi, R, Esko, T, Reimann, E, Milani, L, Alavere, H, Metsalu, K, Puusepp, M, Metspalu, A, Naaber, P, Laane, E, Pesukova, J, Peterson, P, Kisand, K, Tabri, J, Allos, R, Hensen, K, Starkopf, J, Ringmets, I, Tamm, A, Kallaste, A, Bochud, P, Rivolta, C, Bibert, S, Quinodoz, M, Kamdar, D, Boillat, N, Nussle, S, Albrich, W, Suh, N, Neofytos, D, Erard, V, Voide, C, de Cid, R, Galvan-Femenia, I, Blay, N, Carreras, A, Cortes, B, Farre, X, Sumoy, L, Moreno, V, Mercader, J, Guindo-Martinez, M, Torrents, D, Kogevinas, M, Garcia-Aymerich, J, Castano-Vinyals, G, Dobano, C, Renieri, A, Mari, F, Fallerini, C, Daga, S, Benetti, E, Baldassarri, M, Fava, F, Frullanti, E, Valentino, F, Doddato, G, Giliberti, A, Tita, R, Amitrano, S, Bruttini, M, Croci, S, Meloni, I, Mencarelli, M, Rizzo, C, Pinto, A, Beligni, G, Tommasi, A, Di Sarno, L, Palmieri, M, Carriero, M, Alaverdian, D, Busani, S, Bruno, R, Vecchia, M, Belli, M, Picchiotti, N, Sanarico, M, Gori, M, Furini, S, Mantovani, S, Ludovisi, S, Mondelli, M, Castelli, F, Quiros-Roldan, E, Antoni, M, Zanella, I, Vaghi, M, Rusconi, S, Siano, M, Montagnani, F, Emiliozzi, A, 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, Spertilli, C, Feri, M, Donati, A, Scala, R, Guidelli, L, Spargi, G, Corridi, M, Nencioni, C, Croci, L, Bandini, M, Caldarelli, G, Piacentini, P, Desanctis, E, Cappelli, S, Canaccini, A, Verzuri, A, Anemoli, V, Ognibene, A, Pancrazzi, A, Lorubbio, M, D'Arminio Monforte, A, Miraglia, F, Girardis, M, Venturelli, S, Cossarizza, A, Antinori, A, Vergori, A, Gabrieli, A, Riva, A, Francisci, D, Schiaroli, E, Paciosi, F, Scotton, P, Andretta, F, Panese, S, Scaggiante, R, Gatti, F, Parisi, S, Baratti, S, Della 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, Di Biagio, A, Sanguinetti, M, Masucci, L, Valente, S, Mandala, M, Giorli, A, Salerni, L, Zucchi, P, Parravicini, P, Menatti, E, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Coviello, D, Mussini, C, Martinelli, E, Mancarella, S, Tavecchia, L, Crotti, L, Gabbi, C, Rizzi, M, Maggiolo, F, Ripamonti, D, Bachetti, T, La Rovere, M, Sarzi-Braga, S, Bussotti, M, Ceri, S, Pinoli, P, Raimondi, F, Biscarini, F, Stella, A, Zguro, K, Capitani, K, Suardi, C, Dei, S, Parati, G, Ravaglia, S, Artuso, R, Botta, G, Di Domenico, P, Rancan, I, Perrella, A, Bianchi, F, Romani, D, Bergomi, P, Catena, E, Colombo, R, Tanfoni, M, Vincenti, A, Ferri, C, Grassi, D, Pessina, G, Tumbarello, M, Di Pietro, M, Sabrina, R, Luchi, S, Barbieri, C, Acquilini, D, Andreucci, E, Segala, F, Tiseo, G, Falcone, M, Lista, M, Poscente, M, De Vivo, O, Petrocelli, P, Guarnaccia, A, Baroni, S, Smith, A, Boughton, A, Li, K, Lefaive, J, Annis, A, Chittoor, G, Josyula, N, Leader, J, Carey, D, Gass, M, Cantor, M, Yadav, A, van Heel, D, Hunt, K, Mason, D, Huang, Q, Finer, S, Trivedi, B, Griffiths, C, Martin, H, Wright, J, Trembath, R, Soranzo, N, Zhao, J, Butterworth, A, Danesh, J, Di Angelantonio, E, Franke, L, Boezen, M, Deelen, P, Claringbould, A, Lopera, E, Warmerdam, R, Vonk, J, van Blokland, I, Lanting, P, Ori, A, Zollner, S, Wang, J, Beck, A, Peloso, G, Ho, Y, Sun, Y, Huffman, J, O'Donnell, C, Cho, K, Tsao, P, Gaziano, J, Nivard, M, de Geus, E, Bartels, M, Jan Hottenga, J, Weiss, S, Karlson, E, Smoller, J, Green, R, Feng, Y, Murphy, S, Meigs, J, Woolley, A, Perez, E, Li, B, Verma, S, Lucas, A, Bradford, Y, Zeberg, H, Frithiof, R, Hultstrom, M, Lipcsey, M, Tardif, N, Rooyackers, O, Grip, J, Maricic, T, Karczewski, K, Atkinson, E, Tsuo, K, Baya, N, Turley, P, Gupta, R, Callier, S, Walters, R, Palmer, D, Sarma, G, Cheng, N, Lu, W, Bryant, S, Churchhouse, C, Cusick, C, Goldstein, J, King, D, Seed, C, Finucane, H, Martin, A, Satterstrom, F, Wilson, D, Armstrong, J, Rudkin, J, Band, G, Earle, S, Lin, S, Arning, N, Crook, D, Wyllie, D, O'Connell, A, Spencer, C, Koelling, N, Caulfield, M, Scott, R, Moutsianas, L, Pasko, D, Ball, C, Hong, E, Rand, K, Girshick, A, Guturu, H, Baltzell, A, Roberts, G, Park, D, Coignet, M, Mccurdy, S, Knight, S, Partha, R, Rhead, B, Zhang, M, Berkowitz, N, Gaddis, M, Noto, K, Ruiz, L, Pavlovic, M, Sloofman, L, Charney, A, Beckmann, N, Schadt, E, Jordan, D, Thompson, R, Gettler, K, Abul-Husn, N, Ascolillo, S, Buxbaum, J, Chaudhary, K, Cho, J, Itan, Y, Kenny, E, Belbin, G, Sealfon, S, Sebra, R, Salib, I, Collins, B, Levy, T, Britvan, B, Keller, K, Tang, L, Peruggia, M, Hiester, L, Niblo, K, Aksentijevich, A, Labkowsky, A, Karp, A, Zlatopolsky, M, Preuss, M, Loos, R, Nadkarni, G, Do, R, Hoggart, C, Choi, S, Underwood, S, O'Reilly, P, Huckins, L, Zyndorf, M, Daly, M, Neale, B, Ganna, A, Fawkes, A, Murphy, L, Rowan, K, Ponting, C, Vitart, V, Yang, J, Bretherick, A, Hendry, S, Law, A, Baillie, J, Kousathanas, Athanasios [0000-0001-6265-6521], Pairo-Castineira, Erola [0000-0002-2423-3090], Rawlik, Konrad [0000-0002-0010-370X], Walker, Susan [0000-0002-5016-6426], Malinauskas, Tomas [0000-0002-4847-5529], Wu, Yang [0000-0002-0128-7280], Shen, Xia [0000-0003-4390-1979], Elliott, Katherine S [0000-0002-8125-797X], Keating, Sean [0000-0001-8552-5604], Wang, Bo [0000-0002-1580-797X], Klaric, Lucija [0000-0003-3105-8929], Parkinson, Nick [0000-0001-6336-5654], Nichol, Alistair [0000-0002-4689-1238], Semple, Malcolm G [0000-0001-9700-0418], Salehi, Shahla [0000-0002-5058-7706], Knight, Julian [0000-0002-0377-5536], Elgar, Greg [0000-0001-7323-1596], Patch, Christine [0000-0002-4191-0663], Baras, Aris [0000-0002-6830-3396], Abecasis, Goncalo R [0000-0003-1509-1825], Ferreira, Manuel AR [0000-0001-9059-1825], Rader, Daniel J [0000-0002-9245-9876], Ritchie, Marylyn D [0000-0002-1208-1720], Shankar-Hari, Manu [0000-0002-5338-2538], Summers, Charlotte [0000-0002-7269-2873], Hinds, Charles [0000-0001-5094-8324], McAuley, Danny [0000-0002-3283-1947], Montgomery, Hugh [0000-0001-8797-5019], Elliott, Paul [0000-0002-7511-5684], Tenesa, Albert [0000-0003-4884-4475], Murphy, Lee [0000-0001-6467-7449], Rowan, Kathy [0000-0001-8217-5602], Ponting, Chris P [0000-0003-0202-7816], Vitart, Veronique [0000-0002-4991-3797], Wilson, James F [0000-0001-5751-9178], Yang, Jian [0000-0003-2001-2474], Bretherick, Andrew D [0000-0001-9258-3140], Hendry, Sara Clohisey [0000-0001-7489-9846], Moutsianas, Loukas [0000-0001-5453-345X], Law, Andy [0000-0003-1868-2364], Caulfield, Mark J [0000-0001-9295-3594], Baillie, J Kenneth [0000-0001-5258-793X], Apollo - University of Cambridge Repository, National Institute for Health Research, UKRI MRC COVID-19 Rapid Response Call, UK Research and Innovation, Internal Medicine, Epidemiology, Center of Experimental and Molecular Medicine, AII - Infectious diseases, Amsterdam Neuroscience - Neuroinfection & -inflammation, Neurology, Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Life Course Epidemiology (LCE), Groningen Research Institute for Asthma and COPD (GRIAC), APH - Methodology, APH - Mental Health, Biological Psychology, AMS - Ageing & Vitality, AMS - Sports, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Department of Health & Social Care (UK), Medical Research Council (UK), Roslin Institute, Pérez-Tur, Jordi, Institute for Molecular Medicine Finland, Doctoral Programme in Population Health, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Department of Public Health, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Faculty Common Matters (Faculty of Social Sciences), Data Science Genetic Epidemiology Lab, CAMM - Research Program for Clinical and Molecular Metabolism, investigators, GenOMICC, investigators, 23andMe, and Initiative, COVID-19 Human Genetics
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Genome-wide association studies ,PATHWAY ,Fucosyltransferase ,Lectins ,Receptors ,Genetics research ,TOOL ,Phospholipid Transfer Proteins ,Genome ,Multidisciplinary ,C-Type ,ATP-Binding Cassette Transporters ,Cell Adhesion Molecules ,Critical Care ,E-Selectin ,Factor VIII ,Fucosyltransferases ,Genome-Wide Association Study ,Humans ,Interleukin-10 Receptor beta Subunit ,Lectins, C-Type ,Mucin-1 ,Nerve Tissue Proteins ,Receptors, Cell Surface ,Repressor Proteins ,SARS-CoV-2 ,COVID-19 ,Critical Illness ,Genome, Human ,Host-Pathogen Interactions ,Whole Genome Sequencing ,1184 Genetics, developmental biology, physiology ,ASSOCIATION ,GenOMICC investigators ,COVID-19/genetics ,Host-Pathogen Interactions/genetics ,Multidisciplinary Sciences ,Host-Pathogen Interaction ,Cell Surface ,Science & Technology - Other Topics ,Infectious diseases ,Critical Illne ,Human ,Respiratory distress syndrome ,General Science & Technology ,ATP-Binding Cassette Transporter ,DENDRITIC CELLS ,23andMe investigators ,Settore MED/07 - MICROBIOLOGIA E MICROBIOLOGIA CLINICA ,Phospholipid Transfer Protein ,SDG 3 - Good Health and Well-being ,LINKAGE ,Science & Technology ,SARS-CoV-2/pathogenicity ,Repressor Protein ,SIGNAL ,ONTOLOGY ,COVID-19 Human Genetics Initiative ,Critical Illness/mortality ,Cell Adhesion Molecule ,Nerve Tissue Protein ,Genome, Human/genetics - Abstract
34 páginas, 3 figuras, 1 tabla., Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2-4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes-including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)-in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease., GenOMICC was funded by the Department of Health and Social Care (DHSC), Illumina, LifeArc, the Medical Research Council (MRC), UKRI, Sepsis Research (the Fiona Elizabeth Agnew Trust), the Intensive Care Society, a Wellcome Trust Senior Research Fellowship (J.K.B., 223164/Z/21/Z) a BBSRC Institute Program Support Grant to the Roslin Institute (BBS/E/D/20002172, BBS/E/D/10002070 and BBS/E/D/30002275) and UKRI grants MC_ PC_20004, MC_PC_19025, MC_PC_1905 and MRNO2995X/1. WGS was performed by Illumina Article at Illumina Laboratory Services and was overseen by Genomics England. We would like to thank all at Genomics England who have contributed to the sequencing, clinical and genomic data analysis. This research is supported in part by the Data and Connectivity National Core Study, led by Health Data Research UK in partnership with the Office for National Statistics and funded by UK Research and Innovation (grant ref. MC_PC_20029). A.D.B. would like to acknowledge funding from the Wellcome PhD training fellowship for clinicians (204979/Z/16/Z) and the Edinburgh Clinical Academic Track (ECAT) programme. We thank the research participants and employees of 23andMe for making this work possible. Genomics England and the 100,000 Genomes Project were funded by the National Institute for Health Research, the Wellcome Trust, the MRC, Cancer Research UK, the DHSC and NHS England. We are grateful for the support from S. Hill and the team in NHS England and the 13 Genomic Medicine Centres that delivered the 100,000 Genomes Project, which provided most of the control genome sequences for this study. We thank the participants in the 100,000 Genomes Project, who made this study possible, and the Genomics England Participant Panel for their strategic advice, involvement and engagement. We acknowledge NHS Digital, Public Health England and the Intensive Care National Audit and Research Centre, who provided life-course longitudinal clinical data on the participants. This work forms part of the portfolio of research of the National Institute for Health Research Barts Biomedical Research Centre. Mark Caulfield is an NIHR Senior Investigator. This study owes a great deal to the National Institute for Healthcare Research Clinical Research Network (NIHR CRN) and the Chief Scientist’s Office (Scotland), who facilitate recruitment into research studies in NHS hospitals, and to the global ISARIC and InFACT consortia. Additional replication was conducted using the UK Biobank Resource (project 26041). The Penn Medicine BioBank is funded by a gift from the Smilow family; the National Center for Advancing Translational Sciences of the National Institutes of Health under CTSA award number UL1TR001878; and the Perelman School of Medicine at the University of Pennsylvania. We thank the AncestryDNA customers who voluntarily contributed information in the COVID-19 survey. HRS (dbGaP accession: phs000428.v1.p1): HRS was supported by the National Institute on Aging (NIA U01AG009740). The genotyping was funded separately by the National Institute on Aging (RC2 AG036495, RC4 AG039029). Genotyping was conducted by the NIH Center for Inherited Disease Research (CIDR) at Johns Hopkins University. Genotyping quality control and final preparation of the data were performed by the Genetics Coordinating Center at the University of Washington. The Genotype-Tissue Expression (GTEx) Project was supported by the Common Fund of the Office of the Director of the National Institutes of Health, and by the NCI, NHGRI, NHLBI, NIDA, NIMH and NINDS. The data used for the analyses described in this manuscript were obtained from the GTEx Portal on 22 August 2021 (GTEx Analysis Release v.8 (dbGaP Accession phs000424.v8.p2). We thank the research participants and employees of 23andMe for making this work possible. A full list of contributors who have provided data that were collated in the HGI project, including previous iterations, is available at https://www.covid19hg.org/acknowledgements. The views expressed are those of the authors and not necessarily those of the DHSC, NHS, Department for International Development (DID), NIHR, MRC, Wellcome Trust or Public Health England.
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- 2022
5. Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study
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Fallerini, C., Daga, S., Mantovani, S., Benetti, E., Picchiotti, N., Francisci, D., Paciosi, F., Schiaroli, E., Baldassarri, M., Fava, F., Palmieri, M., Ludovisi, S., Castelli, F., Quiros-Roldan, E., Vaghi, M., Rusconi, S., Siano, M., Bandini, M., Spiga, O., Capitani, K., Furini, S., Mari, F., Renieri, A., Mondelli, M. U., Frullanti, E., Valentino, F., Doddato, G., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Croci, S., Meloni, I., Mencarelli, M. A., Rizzo, C. L., Pinto, A. M., Sarno, L. D., Beligni, G., Tommasi, A., Iuso, N., Montagnani, F., Fabbiani, M., Rossetti, B., Zanelli, G., 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., Spertilli, C., Feri, M., Donati, A., Scala, R., Guidelli, L., Spargi, G., Corridi, M., Nencioni, C., Croci, L., Caldarelli, G. P., Spagnesi, M., Romani, D., Piacentini, P., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Ognibene, A., D'Arminio Monforte, A., Miraglia, F. G., Girardis, M., Venturelli, S., Busani, S., Cossarizza, A., Antinori, A., Vergori, A., Emiliozzi, A., Gabrieli, A., Riva, A., Scotton, P. G., Andretta, F., Panese, S., Scaggiante, R., Gatti, F., Parisi, S. G., Baratti, S., 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., Trotta, T., Giannattasio, F., Coiro, G., Lena, F., Coviello, D. A., Mussini, C., Bosio, G., Martinelli, E., Mancarella, S., Tavecchia, L., Gori, M., Crotti, L., Parati, G., Gabbi, C., Zanella, I., Rizzi, M., Maggiolo, F., Ripamonti, D., Bachetti, T., Rovere, M. T. L., Sarzi-Braga, S., Bussotti, M., Chiariello, M., Belli, M. A., Dei, S., Fallerini, C., Daga, S., Mantovani, S., Benetti, E., Picchiotti, N., Francisci, D., Paciosi, F., Schiaroli, E., Baldassarri, M., Fava, F., Palmieri, M., Ludovisi, S., Castelli, F., Quiros-Roldan, E., Vaghi, M., Rusconi, S., Siano, M., Bandini, M., Spiga, O., Capitani, K., Furini, S., Mari, F., Renieri, A., Mondelli, M. U., Frullanti, E., Valentino, F., Doddato, G., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Croci, S., Meloni, I., Mencarelli, M. A., Rizzo, C. L., Pinto, A. M., Sarno, L. D., Beligni, G., Tommasi, A., Iuso, N., Montagnani, F., Fabbiani, M., Rossetti, B., Zanelli, G., 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., Spertilli, C., Feri, M., Donati, A., Scala, R., Guidelli, L., Spargi, G., Corridi, M., Nencioni, C., Croci, L., Caldarelli, G. P., Spagnesi, M., Romani, D., Piacentini, P., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Ognibene, A., D'Arminio Monforte, A., Miraglia, F. G., Girardis, M., Venturelli, S., Busani, S., Cossarizza, A., Antinori, A., Vergori, A., Emiliozzi, A., Gabrieli, A., Riva, A., Scotton, P. G., Andretta, F., Panese, S., Scaggiante, R., Gatti, F., Parisi, S. G., Baratti, S., 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., Trotta, T., Giannattasio, F., Coiro, G., Lena, F., Coviello, D. A., Mussini, C., Bosio, G., Martinelli, E., Mancarella, S., Tavecchia, L., Gori, M., Crotti, L., Parati, G., Gabbi, C., Zanella, I., Rizzi, M., Maggiolo, F., Ripamonti, D., Bachetti, T., Rovere, M. T. L., Sarzi-Braga, S., Bussotti, M., Chiariello, M., Belli, M. A., Dei, S., Fallerini, C, Daga, S, Mantovani, S, Benetti, E, Picchiotti, N, Francisci, D, Paciosi, F, Schiaroli, E, Baldassarri, M, Fava, F, Palmieri, M, Ludovisi, S, Castelli, F, Quiros-Roldan, E, Rusconi, S, Siano, M, Bandini, M, Spiga, O, Capitani, K, Furini, S, Mari, F, Renieri, A, Mondelli, M, Frullanti, E, Valentino, F, Doddato, G, Giliberti, A, Tita, R, Amitrano, S, Bruttini, M, Croci, S, Meloni, I, Mencarelli, M, Rizzo, C, Pinto, A, Sarno, L, Beligni, G, Tommasi, A, Iuso, N, Montagnani, F, Fabbiani, M, Rossetti, B, Zanelli, G, 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, Spertilli, C, Feri, M, Donati, A, Scala, R, Guidelli, L, Spargi, G, Corridi, M, Nencioni, C, Croci, L, Caldarelli, G, Spagnesi, M, Romani, D, Piacentini, P, Desanctis, E, Cappelli, S, Canaccini, A, Verzuri, A, Anemoli, V, Ognibene, A, D'Arminio Monforte, A, Miraglia, F, Girardis, M, Venturelli, S, Busani, S, Cossarizza, A, Antinori, A, Vergori, A, Emiliozzi, A, Gabrieli, A, Riva, A, Scotton, P, Andretta, F, Panese, S, Scaggiante, R, Gatti, F, Parisi, S, Baratti, 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, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Coviello, D, Mussini, C, Bosio, G, Martinelli, E, Mancarella, S, Tavecchia, L, Gori, M, Crotti, L, Parati, G, Gabbi, C, Zanella, I, Rizzi, M, Maggiolo, F, Ripamonti, D, Bachetti, T, Rovere, M, Sarzi-Braga, S, Bussotti, M, Chiariello, M, Belli, M, Dei, S, and Vaghi, M
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0301 basic medicine ,Male ,medicine ,Disease ,Severity of Illness Index ,genomic ,0302 clinical medicine ,HEK293 Cell ,Epidemiology ,genetics ,030212 general & internal medicine ,Biology (General) ,COVID ,TLR7 ,General Neuroscience ,virus diseases ,General Medicine ,Single Nucleotide ,Middle Aged ,Italy ,Cohort ,Medicine ,COVID-19 ,LASSO Logistic Regression Analysis ,genomics ,human ,Adult ,Case-Control Studies ,Genetic Predisposition to Disease ,HEK293 Cells ,Humans ,SARS-CoV-2 ,Toll-Like Receptor 7 ,Polymorphism, Single Nucleotide ,medicine.symptom ,Case-Control Studie ,Insight ,Human ,medicine.medical_specialty ,QH301-705.5 ,Science ,Short Report ,macromolecular substances ,Asymptomatic ,Settore MED/07 - MICROBIOLOGIA E MICROBIOLOGIA CLINICA ,General Biochemistry, Genetics and Molecular Biology ,LASSO Logistic Regression Analysi ,03 medical and health sciences ,Internal medicine ,Severity of illness ,Polymorphism ,General Immunology and Microbiology ,business.industry ,Case-control study ,Genetics and Genomics ,LASSO logistic regression analysis ,Clinical trial ,030104 developmental biology ,Nested case-control study ,genetic ,business - Abstract
Background:Recently, loss-of-function variants in TLR7 were identified in two families in which COVID-19 segregates like an X-linked recessive disorder environmentally conditioned by SARS-CoV-2. We investigated whether the two families represent the tip of the iceberg of a subset of COVID-19 male patients.Methods:This is a nested case-control study in which we compared male participants with extreme phenotype selected from the Italian GEN-COVID cohort of SARS-CoV-2-infected participants (Results:Overall, we found TLR7 deleterious variants in 2.1% of severely affected males and in none of the asymptomatic participants. The functional gene expression profile analysis demonstrated a reduction in TLR7-related gene expression in patients compared with controls demonstrating an impairment in type I and II IFN responses.Conclusions:Young males with TLR7 loss-of-function variants and severe COVID-19 represent a subset of male patients contributing to disease susceptibility in up to 2% of severe COVID-19.Funding:Funded by private donors for the Host Genetics Research Project, the Intesa San Paolo for 2020 charity fund, and the Host Genetics Initiative.Clinical trial number:NCT04549831.
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- 2021
6. C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age
- Author
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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., 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, and Brugnoni, D
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Male ,Severity of Illness Index ,Risk Factors ,C9orf72 ,Odds Ratio ,Age Factor ,Biology (General) ,Spectroscopy ,Innate immunity ,Age Factors ,General Medicine ,Middle Aged ,Computer Science Applications ,Chemistry ,Intermediate alleles ,Female ,Haploinsufficiency ,Human ,Adult ,Genotype ,Logistic Model ,QH301-705.5 ,Intermediate allele ,Article ,Settore MED/07 - MICROBIOLOGIA E MICROBIOLOGIA CLINICA ,Catalysis ,Inorganic Chemistry ,Immune system ,medicine ,Autophagy ,Humans ,Genetic Predisposition to Disease ,Physical and Theoretical Chemistry ,Allele ,QD1-999 ,Molecular Biology ,COVID-19 ,Genetic risk ,SARS-CoV-2 ,Aged ,Amyotrophic Lateral Sclerosis ,C9orf72 Protein ,Logistic Models ,Microsatellite Repeats ,Innate immune system ,business.industry ,Risk Factor ,Organic Chemistry ,medicine.disease ,Immunology ,Cytokine storm ,business ,Trinucleotide repeat expansion ,Amyotrophic Lateral Sclerosi - 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 lysosome 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
7. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
- Author
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Baldassarri M., Picchiotti N., Fava F., Fallerini C., Benetti E., Daga S., Valentino F., Doddato G., Furini S., Giliberti A., Tita R., Amitrano S., Bruttini M., Croci S., Meloni I., Pinto A. M., Iuso N., Gabbi C., Sciarra F., Venneri M. A., Gori M., Sanarico M., Crawley F. P., Pagotto U., Fanelli F., Mezzullo M., Dominguez-Garrido E., Planas-Serra L., Schluter A., Colobran R., Soler-Palacin P., Lapunzina P., Tenorio J., Pujol A., Castagna M. G., Marcelli M., Isidori A. M., Renieri A., Frullanti E., Mari F., Montagnani F., Di Sarno L., Tommasi A., Palmieri M., Fabbiani M., Rossetti B., Zanelli G., Sestini F., 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., Spertilli C., 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., Canaccini A., Verzuri A., Anemoli V., Ognibene A., Vaghi M., Monforte A. D., Merlini E., Miraglia F. G., Mondelli M. U., Mantovani S., Ludovisi S., Girardis M., Venturelli S., Sita M., Cossarizza A., Antinori A., Vergori A., Emiliozzi A., Rusconi S., Siano M., Gabrieli A., Riva A., Francisci D., Schiaroli E., Paciosi F., Scotton P. G., Andretta F., Panese S., Baratti S., Scaggiante R., Gatti F., Parisi S. G., Castelli F., Quiros-Roldan E., Antoni M. D., Zanella I., Monica M. D., Piscopo C., Capasso M., Russo R., Andolfo I., Iolascon A., Fiorentino G., Carella M., Castori M., Merla G., Aucella F., Raggi P., Marciano C., Perna R., Bassetti M., Di Biagio A., Sanguinetti M., Masucci L., Valente S., Mencarelli M. A., Lo Rizzo C., Bargagli E., Mandala M., Giorli A., Salerni L., Zucchi P., Parravicini P., Menatti E., Trotta T., Giannattasio F., Coiro G., Lena F., Coviello D. A., Mussini C., Bosio G., Martinelli E., Mancarella S., Tavecchia L., Crotti L., Parati G., Aguilera-Albesa S., Albu S., Casasnovas C., Velez-Santamaria V., Horcajada J. P., Villar J., Rodriguez-Palmero A., Ruiz M., Seijo L. M., Troya J., Valencia-Ramos J., Gut M., Institut Català de la Salut, [Baldassarri M, Fallerini C] Medical Genetics, University of Siena, Italy. Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy. [Picchiotti N] University of Siena, DIISM-SAILAB, Siena, Italy. Department of Mathematics, University of Pavia, Pavia, Italy. [Fava F] Medical Genetics, University of Siena, Italy. Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy. Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Italy. [Benetti E] Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy. [Colobran R] Servei d’Immunologia, Àrea de Genètica, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Soler-Palacin P] Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Baldassarri M., Picchiotti N., Fava F., Fallerini C., Benetti E., Daga S., Valentino F., Doddato G., Furini S., Giliberti A., Tita R., Amitrano S., Bruttini M., Croci S., Meloni I., Pinto A.M., Iuso N., Gabbi C., Sciarra F., Venneri M.A., Gori M., Sanarico M., Crawley F.P., Pagotto U., Fanelli F., Mezzullo M., Dominguez-Garrido E., Planas-Serra L., Schluter A., Colobran R., Soler-Palacin P., Lapunzina P., Tenorio J., Pujol A., Castagna M.G., Marcelli M., Isidori A.M., Renieri A., Frullanti E., Mari F., Montagnani F., Di Sarno L., Tommasi A., Palmieri M., Fabbiani M., Rossetti B., Zanelli G., Sestini F., 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., Spertilli C., 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., Canaccini A., Verzuri A., Anemoli V., Ognibene A., Vaghi M., Monforte A.D., Merlini E., Miraglia F.G., Mondelli M.U., Mantovani S., Ludovisi S., Girardis M., Venturelli S., Sita M., Cossarizza A., Antinori A., Vergori A., Emiliozzi A., Rusconi S., Siano M., Gabrieli A., Riva A., Francisci D., Schiaroli E., Paciosi F., Scotton P.G., Andretta F., Panese S., Baratti S., Scaggiante R., Gatti F., Parisi S.G., Castelli F., Quiros-Roldan E., Antoni M.D., Zanella I., Monica M.D., Piscopo C., Capasso M., Russo R., Andolfo I., Iolascon A., Fiorentino G., Carella M., Castori M., Merla G., Aucella F., Raggi P., Marciano C., Perna R., Bassetti M., Di Biagio A., Sanguinetti M., Masucci L., Valente S., Mencarelli M.A., Lo Rizzo C., Bargagli E., Mandala M., Giorli A., Salerni L., Zucchi P., Parravicini P., Menatti E., Trotta T., Giannattasio F., Coiro G., Lena F., Coviello D.A., Mussini C., Bosio G., Martinelli E., Mancarella S., Tavecchia L., Crotti L., Parati G., Aguilera-Albesa S., Albu S., Casasnovas C., Velez-Santamaria V., Horcajada J.P., Villar J., Rodriguez-Palmero A., Ruiz M., Seijo L.M., Troya J., Valencia-Ramos J., Gut M., Baldassarri, M., Picchiotti, N., Fava, F., Fallerini, C., Benetti, E., Daga, S., Valentino, F., Doddato, G., Furini, S., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Croci, S., Meloni, I., Pinto, A. M., Iuso, N., Gabbi, C., Sciarra, F., Venneri, M. A., Gori, M., Sanarico, M., Crawley, F. P., Pagotto, U., Fanelli, F., Mezzullo, M., Dominguez-Garrido, E., Planas-Serra, L., Schluter, A., Colobran, R., Soler-Palacin, P., Lapunzina, P., Tenorio, J., Pujol, A., Castagna, M. G., Marcelli, M., Isidori, A. M., Renieri, A., Frullanti, E., Mari, F., Montagnani, F., Di Sarno, L., Tommasi, A., Palmieri, M., Fabbiani, M., Rossetti, B., Zanelli, G., Sestini, F., 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., Spertilli, C., 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., Canaccini, A., Verzuri, A., Anemoli, V., Ognibene, A., Vaghi, M., Monforte, A. D., Merlini, E., Miraglia, F. G., Mondelli, M. U., Mantovani, S., Ludovisi, S., Girardis, M., Venturelli, S., Sita, M., Cossarizza, A., Antinori, A., Vergori, A., Emiliozzi, A., Rusconi, S., Siano, M., Gabrieli, A., Riva, A., Francisci, D., Schiaroli, E., Paciosi, F., Scotton, P. G., Andretta, F., Panese, S., Baratti, S., Scaggiante, R., Gatti, F., Parisi, S. G., Castelli, F., Quiros-Roldan, E., Antoni, M. D., Zanella, I., Monica, M. D., Piscopo, C., Capasso, M., Russo, R., Andolfo, I., Iolascon, A., Fiorentino, G., Carella, M., Castori, M., Merla, G., Aucella, F., Raggi, P., Marciano, C., Perna, R., Bassetti, M., Di Biagio, A., Sanguinetti, M., Masucci, L., Valente, S., Mencarelli, M. A., Lo Rizzo, C., Bargagli, E., Mandala, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Trotta, T., Giannattasio, F., Coiro, G., Lena, F., Coviello, D. A., Mussini, C., Bosio, G., Martinelli, E., Mancarella, S., Tavecchia, L., Crotti, L., Parati, G., Aguilera-Albesa, S., Albu, S., Casasnovas, C., Velez-Santamaria, V., Horcajada, J. P., Villar, J., Rodriguez-Palmero, A., Ruiz, M., Seijo, L. M., Troya, J., Valencia-Ramos, J., Gut, M., Baldassarri, M, Picchiotti, N, Fava, F, Fallerini, C, Benetti, E, Daga, S, Valentino, F, Doddato, G, Furini, S, Giliberti, A, Tita, R, Amitrano, S, Bruttini, M, Croci, S, Meloni, I, Pinto, A, Iuso, N, Gabbi, C, Sciarra, F, Venneri, M, Gori, M, Sanarico, M, Crawley, F, Pagotto, U, Fanelli, F, Mezzullo, M, Dominguez-Garrido, E, Planas-Serra, L, Schluter, A, Colobran, R, Soler-Palacin, P, Lapunzina, P, Tenorio, J, Pujol, A, Castagna, M, Marcelli, M, Isidori, A, Renieri, A, Frullanti, E, Mari, F, Montagnani, F, Di Sarno, L, Tommasi, A, Palmieri, M, Fabbiani, M, Rossetti, B, Zanelli, G, Sestini, F, 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, Spertilli, 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, Canaccini, A, Verzuri, A, Anemoli, V, Ognibene, A, Vaghi, M, Monforte, A, Merlini, E, Miraglia, F, Mondelli, M, Mantovani, S, Ludovisi, S, Girardis, M, Venturelli, S, Sita, M, Cossarizza, A, Antinori, A, Vergori, A, Emiliozzi, A, Rusconi, S, Siano, M, Gabrieli, A, Riva, A, Francisci, D, Schiaroli, E, Paciosi, F, Scotton, P, Andretta, F, Panese, S, Baratti, S, Scaggiante, R, Gatti, F, Parisi, S, Castelli, F, Quiros-Roldan, E, Antoni, M, Zanella, I, Monica, M, Piscopo, C, Capasso, M, Russo, R, Andolfo, I, Iolascon, A, Fiorentino, G, Carella, M, Castori, M, Merla, G, Aucella, F, Raggi, P, Marciano, C, Perna, R, Bassetti, M, Di Biagio, A, Sanguinetti, M, Masucci, L, Valente, S, Mencarelli, M, Lo Rizzo, C, Bargagli, E, Mandala, M, Giorli, A, Salerni, L, Zucchi, P, Parravicini, P, Menatti, E, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Coviello, D, Mussini, C, Bosio, G, Martinelli, E, Mancarella, S, Tavecchia, L, Crotti, L, Parati, G, Aguilera-Albesa, S, Albu, S, Casasnovas, C, Velez-Santamaria, V, Horcajada, J, Villar, J, Rodriguez-Palmero, A, Ruiz, M, Seijo, L, Troya, J, Valencia-Ramos, J, and Gut, M
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0301 basic medicine ,Oncology ,Male ,lcsh:Medicine ,Disease ,COVID-19 (Malaltia) ,Severity of Illness Index ,Androgen ,Hormones, Hormone Substitutes, and Hormone Antagonists::Hormones::Gonadal Hormones::Gonadal Steroid Hormones::Testosterone Congeners::Testosterone [CHEMICALS AND DRUGS] ,0302 clinical medicine ,Risk Factors ,Receptors ,virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES] ,Testosterone ,Other subheadings::/therapeutic use [Other subheadings] ,Amino Acids, Peptides, and Proteins::Proteins::Receptors, Cytoplasmic and Nuclear::Receptors, Steroid::Receptors, Androgen [CHEMICALS AND DRUGS] ,Testosterona ,Androgen receptor gene ,COVID-19 ,LASSO logistic regression ,Viral infection and host genome ,WES ,Aged ,Case-Control Studies ,Critical Care ,Female ,Genome, Human ,Humans ,Middle Aged ,Peptides ,Polymorphism, Single Nucleotide ,Receptors, Androgen ,SARS-CoV-2 ,Spain ,lcsh:R5-920 ,Genome ,Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES] ,General Medicine ,Single Nucleotide ,Testosterona - Ús terapèutic ,Homes -- Malalties ,androgen receptor gene ,testosterone ,viral infection and host genome ,030220 oncology & carcinogenesis ,Cohort ,Peptide ,aminoácidos, péptidos y proteínas::proteínas::receptores citoplásmicos y nucleares::receptores de esteroides::receptores de andrógenos [COMPUESTOS QUÍMICOS Y DROGAS] ,Androgens ,lcsh:Medicine (General) ,Case-Control Studie ,Research Paper ,hormonas, sustitutos de hormonas y antagonistas de hormonas::hormonas::hormonas gonadales::hormonas esteroides gonadales::congéneres de la testosterona::testosterona [COMPUESTOS QUÍMICOS Y DROGAS] ,Human ,medicine.medical_specialty ,General Biochemistry, Genetics and Molecular Biology ,03 medical and health sciences ,Andrògens - Receptors ,Internal medicine ,Severity of illness ,medicine ,Adjuvant therapy ,Allele ,Polymorphism ,business.industry ,Otros calificadores::/uso terapéutico [Otros calificadores] ,Public health ,Risk Factor ,lcsh:R ,Case-control study ,Androgen receptor ,030104 developmental biology ,business ,Andrògens - Abstract
Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Gen receptor d'andrògens; Infecció vírica i genoma de l’hoste Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Gen receptor de andrógenos; Infección viral y genoma del huésped Coronavirus SARS-CoV-2; COVID-19; 2019-nCoV; Androgen receptor gene; Viral infection and host genome Background While SARS-CoV-2 similarly infects men and women, COVID-19 outcome is less favorable in men. Variability in COVID-19 severity may be explained by differences in the host genome. Methods We compared poly-amino acids variability from WES data in severely affected COVID-19 patients versus SARS-CoV-2 PCR-positive oligo-asymptomatic subjects. Findings Shorter polyQ alleles (≤22) in the androgen receptor (AR) conferred protection against severe outcome in COVID-19 in the first tested cohort (both males and females) of 638 Italian subjects. The association between long polyQ alleles (≥23) and severe clinical outcome (p = 0.024) was also validated in an independent cohort of Spanish men
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- 2021
8. Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
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Mantovani, S., Daga, S., Fallerini, C., Baldassarri, M., Benetti, E., Picchiotti, N., Fava, F., Galli, A., Zibellini, S., Bruttini, M., Palmieri, M., Croci, S., Amitrano, S., Alaverdian, D., Capitani, K., Furini, S., Mari, F., Meloni, I., Montagnani, F., Tumbarello, M., Rancan, I., Fabbiani, M., Rossetti, B., 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., Romani, D., Piacentini, P., Bandini, M., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Pisani, M., Ognibene, A., Pancrazzi, A., Lorubbio, M., Vaghi, M., D'Arminio Monforte, A., Miraglia, F. G., Bruno, R., Vecchia, M., 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., Paciosi, F., Tommasi, A., Scotton, P. G., Andretta, F., Panese, S., Baratti, S., Scaggiante, R., Gatti, F., Parisi, S. G., Castelli, F., Quiros-Roldan, E., Degli Antoni, M., Antoni, M. D., Zanella, I., Della Monica, M., Piscopo, C., Capasso, M., Russo, R., Andolfo, I., Iolascon, A., Fiorentino, G., Carella, M., Castori, M., Aucella, F., Raggi, P., Perna, R., Bassetti, M., Di Biagio, A., Sanguinetti, M., Masucci, L., Guarnaccia, A., Valente, S., De Vivo, O., Doddato, G., Lista, M., Beligni, G., Valentino, F., Zguro, K., Tita, R., Giliberti, A., Mencarelli, M. A., Rizzo, C. L., Pinto, A. M., Ariani, F., Di Sarno, L., Bargagli, E., Mandala, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Trotta, T., Giannattasio, F., Coiro, G., Lena, F., Lacerenza, G., Mussini, C., Martinelli, E., Tavecchia, L., Belli, M. A., Crotti, L., Parati, G., Sanarico, M., Raimondi, F., Biscarini, F., Stella, A., Bachetti, T., La Rovere, M. T., Ludovisi, S., Bussotti, M., Dei, S., Ravaglia, S., Artuso, R., Andreucci, E., Gori, G., Pagliazzi, A., Fiorentini, E., Perrella, A., Bianchi, F., Bergomi, P., Catena, E., Colombo, R., Luchi, S., Morelli, G., Petrocelli, P., Iacopini, S., Modica, S., Baroni, S., Segala, F. V., Falcone, M., Tiseo, G., Barbieri, C., Matucci, T., Grassi, D., Ferri, C., Marinangeli, F., Brancati, F., Vincenti, A., Borgo, V., Lombardi, S., Lenzi, M., Di Pietro, M. A., Vichi, F., Romanin, B., Attala, L., Costa, C., Gabbuti, A., Mene, R., Colaneri, M., Casprini, P., Merla, G., Squeo, G. M., Maffezzoni, M., Frullanti, E., Mondelli, M. U., Renieri, A., Mantovani, S., Daga, S., Fallerini, C., Baldassarri, M., Benetti, E., Picchiotti, N., Fava, F., Galli, A., Zibellini, S., Bruttini, M., Palmieri, M., Croci, S., Amitrano, S., Alaverdian, D., Capitani, K., Furini, S., Mari, F., Meloni, I., Montagnani, F., Tumbarello, M., Rancan, I., Fabbiani, M., Rossetti, B., 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., Romani, D., Piacentini, P., Bandini, M., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Pisani, M., Ognibene, A., Pancrazzi, A., Lorubbio, M., Vaghi, M., D'Arminio Monforte, A., Miraglia, F. G., Bruno, R., Vecchia, M., 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., Paciosi, F., Tommasi, A., Scotton, P. G., Andretta, F., Panese, S., Baratti, S., Scaggiante, R., Gatti, F., Parisi, S. G., Castelli, F., Quiros-Roldan, E., Antoni, M. D., Zanella, I., Della Monica, M., Piscopo, C., Capasso, M., Russo, R., Andolfo, I., Iolascon, A., Fiorentino, G., Carella, M., Castori, M., Aucella, F., Raggi, P., Perna, R., Bassetti, M., Di Biagio, A., Sanguinetti, M., Masucci, L., Guarnaccia, A., Valente, S., De Vivo, O., Doddato, G., Lista, M., Beligni, G., Valentino, F., Zguro, K., Tita, R., Giliberti, A., Mencarelli, M. A., Rizzo, C. L., Pinto, A. M., Ariani, F., Di Sarno, L., Bargagli, E., Mandala, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Trotta, T., Giannattasio, F., Coiro, G., Lena, F., Lacerenza, G., Mussini, C., Martinelli, E., Tavecchia, L., Belli, M. A., Crotti, L., Parati, G., Sanarico, M., Raimondi, F., Biscarini, F., Stella, A., Bachetti, T., La Rovere, M. T., Ludovisi, S., Bussotti, M., Dei, S., Ravaglia, S., Artuso, R., Andreucci, E., Gori, G., Pagliazzi, A., Fiorentini, E., Perrella, A., Bianchi, F., Bergomi, P., Catena, E., Colombo, R., Luchi, S., Morelli, G., Petrocelli, P., Iacopini, S., Modica, S., Baroni, S., Segala, F. V., Falcone, M., Tiseo, G., Barbieri, C., Matucci, T., Grassi, D., Ferri, C., Marinangeli, F., Brancati, F., Vincenti, A., Borgo, V., Lombardi, S., Lenzi, M., Di Pietro, M. A., Vichi, F., Romanin, B., Attala, L., Costa, C., Gabbuti, A., Mene, R., Colaneri, M., Casprini, P., Merla, G., Squeo, G. M., Maffezzoni, M., Frullanti, E., Mondelli, M. U., Renieri, A., Mantovani, S, Daga, S, Fallerini, C, Baldassarri, M, Benetti, E, Picchiotti, N, Fava, F, Galli, A, Zibellini, S, Bruttini, M, Palmieri, M, Croci, S, Amitrano, S, Alaverdian, D, Capitani, K, Furini, S, Mari, F, Meloni, I, Montagnani, F, Tumbarello, M, Rancan, I, Fabbiani, M, Rossetti, B, 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, Romani, D, Piacentini, P, Bandini, M, Desanctis, E, Cappelli, S, Canaccini, A, Verzuri, A, Anemoli, V, Pisani, M, Ognibene, A, Pancrazzi, A, Lorubbio, M, Vaghi, M, D'Arminio Monforte, A, Miraglia, F, Bruno, R, Vecchia, M, 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, Paciosi, F, Tommasi, A, Scotton, P, Andretta, F, Panese, S, Baratti, S, Scaggiante, R, Gatti, F, Parisi, S, Castelli, F, Quiros-Roldan, E, Antoni, M, Zanella, I, Della Monica, M, Piscopo, C, Capasso, M, Russo, R, Andolfo, I, Iolascon, A, Fiorentino, G, Carella, M, Castori, M, Aucella, F, Raggi, P, Perna, R, Bassetti, M, Di Biagio, A, Sanguinetti, M, Masucci, L, Guarnaccia, A, Valente, S, De Vivo, O, Doddato, G, Lista, M, Beligni, G, Valentino, F, Zguro, K, Tita, R, Giliberti, A, Mencarelli, M, Rizzo, C, Pinto, A, Ariani, F, Di Sarno, L, Bargagli, E, Mandala, M, Giorli, A, Salerni, L, Zucchi, P, Parravicini, P, Menatti, E, Trotta, T, Giannattasio, F, Coiro, G, Lena, F, Lacerenza, G, Mussini, C, Martinelli, E, Tavecchia, L, Belli, M, Crotti, L, Parati, G, Sanarico, M, Raimondi, F, Biscarini, F, Stella, A, Bachetti, T, La Rovere, M, Ludovisi, S, Bussotti, M, Dei, S, Ravaglia, S, Artuso, R, Andreucci, E, Gori, G, Pagliazzi, A, Fiorentini, E, Perrella, A, Bianchi, F, Bergomi, P, Catena, E, Colombo, R, Luchi, S, Morelli, G, Petrocelli, P, Iacopini, S, Modica, S, Baroni, S, Segala, F, Falcone, M, Tiseo, G, Barbieri, C, Matucci, T, Grassi, D, Ferri, C, Marinangeli, F, Brancati, F, Vincenti, A, Borgo, V, Lombardi, S, Lenzi, M, Di Pietro, M, Vichi, F, Romanin, B, Attala, L, Costa, C, Gabbuti, A, Mene, R, Colaneri, M, Casprini, P, Merla, G, Squeo, G, Maffezzoni, M, Frullanti, E, Mondelli, M, and Renieri, A
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Male ,COVID-19 ,Cytokines ,Down-Regulation ,Humans ,Leukocytes, Mononuclear ,SARS-CoV-2 ,Toll-Like Receptor 7 ,Toll-Like Receptor 8. [MeSH] ,toll-like receptor 7 ,Immunology ,Mononuclear ,virus diseases ,rare variants ,Brief Communication ,Toll-Like Receptor 8 ,Settore BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA ,covid-19 ,Genetics ,Leukocytes ,Genetics (clinical) - Abstract
Toll-like receptors (TLR) are crucial components in the initiation of innate immune responses to a variety of pathogens, triggering the production of pro-inflammatory cytokines and type I and II interferons, which are responsible for innate antiviral responses. Among the different TLRs, TLR7 recognizes several single-stranded RNA viruses including SARS-CoV-2. We and others identified rare loss-of-function variants in X-chromosomal TLR7 in young men with severe COVID-19 and with no prior history of major chronic diseases, that were associated with impaired TLR7 signaling as well as type I and II IFN responses. Here, we performed RNA sequencing to investigate transcriptome variations following imiquimod stimulation of peripheral blood mononuclear cells isolated from patients carrying previously identified hypomorphic, hypofunctional, and loss-of-function TLR7 variants. Our investigation revealed a profound impairment of the TLR7 pathway in patients carrying loss-of-function variants. Of note, a failure in IFNγ upregulation following stimulation was also observed in cells harboring the hypofunctional and hypomorphic variants. We also identified new TLR7 variants in severely affected male patients for which a functional characterization of the TLR7 pathway was performed demonstrating a decrease in mRNA levels in the IFNα, IFNγ, RSAD2, ACOD1, IFIT2, and CXCL10 genes.
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- 2021
9. Author Correction: Enteric α-synuclein impairs intestinal epithelial barrier through caspase-1-inflammasome signaling in Parkinson's disease before brain pathology.
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Pellegrini, C., D'Antongiovanni, V., Miraglia, F., Rota, L., Benvenuti, L., Di Salvo, C., Testa, G., Capsoni, S., Carta, G., Antonioli, L., Cattaneo, A., Blandizzi, C., Colla, E., and Fornai, M.
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- 2023
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10. OC13: The brain network organization during sleep onset after deprivation
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Miraglia, F., primary, Vecchio, F., additional, Gorgoni, M., additional, De Gennaro, L., additional, and Rossini, P.M., additional
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- 2022
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11. Special groups and quadratic forms over rings with non-zero-divisor coefficients
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Dickmann, M., primary, Miraglia, F., primary, and Ribeiro, H., primary
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- 2022
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12. Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women
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Monticelli, M., Mele, B. H., Benetti, E., Fallerini, C., Baldassarri, M., Furini, S., Frullanti, E., Mari, F., Andreotti, G., Cubellis, M. V., Renieri, A., Daga, S., Fava, F., Valentino, F., Doddato, G., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Croci, S., Meloni, I., Pinto, A. M., Mencarelli, M. A., Rizzo, C. L., Montagnani, F., Sarno, L. D., Tommasi, A., Palmieri, M., Carriero, M. L., Alaverdian, D., Beligni, G., Iuso, N., Inchingolo, G., Fabbiani, M., Rossetti, B., Zanelli, G., Bargagli, E., Bergantini, L., D'Alessandro, M., Cameli, P., Bennet, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, F., Mazzei, M. A., Guerrini, S., Conticini, E., Cantarini, L., Frediani, B., Tacconi, D., Spertilli, C., 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., Canaccini, A., Verzuri, A., Anemoli, V., Ognibene, A., Pancrazi, A., Lorusso, M., Vaghi, M., D'Arminio Monforte, A., Merlini, E., Miraglia, F. G., Mondelli, M. U., Bruno, R., Marco, V., Mantovani, S., Ludovisi, S., Girardi, M., Venturelli, S., Sita, M., Cossarizza, A., Antinori, A., Vergori, A., Emiliozzi, A., Rusconi, S., Siano, M., Gabrieli, A., Riva, A., Francisci, D., Schiarol, E., Paciosi, F., Scotton, P. G., Andretta, F., Panese, S., Scaggiante, R., Gatti, F., Parisi, S. G., Castelli, F., Quiros-Roldan, E., Antoni, M. D., Zanella, I., 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., Crotti, L., Parati, G. -F., 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., Bergomi, M., Capitani, K., Zguro, K., Dei, S., Monticelli, M., Hay Mele, B., Benetti, E., Fallerini, C., Baldassarri, M., Furini, S., Frullanti, E., Mari, F., Andreotti, G., Cubellis, M. V., Renieri, A., Monticelli, M, Mele, B, Benetti, E, Fallerini, C, Baldassarri, M, Furini, S, Frullanti, E, Mari, F, Andreotti, G, Cubellis, M, Renieri, A, Daga, S, Fava, F, Valentino, F, Doddato, G, Giliberti, A, Tita, R, Amitrano, S, Bruttini, M, Croci, S, Meloni, I, Pinto, A, Mencarelli, M, Rizzo, C, Montagnani, F, Sarno, L, Tommasi, A, Palmieri, M, Carriero, M, Alaverdian, D, Beligni, G, Iuso, N, Inchingolo, G, Fabbiani, M, Rossetti, B, Zanelli, G, Bargagli, E, Bergantini, L, D'Alessandro, M, Cameli, P, Bennet, D, Anedda, F, Marcantonio, S, Scolletta, S, Franchi, F, Mazzei, M, Guerrini, S, Conticini, E, Cantarini, L, Frediani, B, Tacconi, D, Spertilli, 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, Canaccini, A, Verzuri, A, Anemoli, V, Ognibene, A, Pancrazi, A, Lorusso, M, Vaghi, M, D'Arminio Monforte, A, Merlini, E, Miraglia, F, Mondelli, M, Bruno, R, Marco, V, Mantovani, S, Ludovisi, S, Girardi, M, Venturelli, S, Sita, M, Cossarizza, A, Antinori, A, Vergori, A, Emiliozzi, A, Rusconi, S, Siano, M, Gabrieli, A, Riva, A, Francisci, D, Schiarol, E, Paciosi, F, Scotton, P, Andretta, F, Panese, S, Scaggiante, R, Gatti, F, Parisi, S, Castelli, F, Quiros-Roldan, E, Antoni, M, Zanella, I, 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, 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, Bergomi, M, Capitani, K, Zguro, K, and Dei, S
- Subjects
0301 basic medicine ,Male ,COVID19 ,medicine.medical_treatment ,Disease ,V197M ,Comorbidity ,QH426-470 ,Pathogenesis ,0302 clinical medicine ,Gene Frequency ,Missense mutation ,COVID-19 ,TMPRSS2 ,Whole-Exome Sequencing (WES) ,Genetics (clinical) ,Communication ,Respiration ,Serine Endopeptidases ,Single Nucleotide ,Middle Aged ,3. Good health ,Hospitalization ,Serine Endopeptidase ,Treatment Outcome ,Italy ,030220 oncology & carcinogenesis ,Cohort ,Artificial ,Female ,Aged ,Humans ,Mutation ,Respiration, Artificial ,Polymorphism, Single Nucleotide ,Human ,V179M ,03 medical and health sciences ,medicine ,Genetics ,Polymorphism ,Allele frequency ,Protease ,business.industry ,medicine.disease ,030104 developmental biology ,Immunology ,business - Abstract
The protease encoded by the TMPRSS2 gene facilitates viral infections and has been implicated in the pathogenesis of SARS-CoV-2. We analyzed the TMPRSS2 sequence and correlated the protein variants with the clinical features of a cohort of 1177 patients affected by COVID-19 in Italy. Nine relatively common variants (allele frequency > 0.01) and six missense variants which may affect the protease activity according to PolyPhen-2 in HumVar-trained mode were identified. Among them, p.V197M (p.Val197Met) (rs12329760) emerges as a common variant that has a deleterious effect on the protease and a protective effect on the patients. Its role appears particularly relevant in two subgroups of patients—young males and elderly women—and among those affected by co-morbidities, where the variant frequency is higher among individuals who were mildly affected by the disease and did not need hospitalization or oxygen therapy than among those more severely affected, who required oxygen therapy, ventilation or intubation. This study provides useful information for the identification of patients at risk of developing a severe form of COVID-19, and encourages the usage of drugs affecting the expression of TMPRSS2 or inhibiting protein activity.
- Published
- 2021
13. Quadratic form theory over preordered von Neumann-regular rings
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Dickmann, M. and Miraglia, F.
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- 2008
- Full Text
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14. Early diagnosis of Alzheimer’s disease: The role of biomarkers including advanced EEG signal analysis. An I.F.C.N.-sponsored panel of Experts
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Rossini, Paolo M., Di Iorio, Riccardo, Vecchio, Francesco, Anfossi, M, Babiloni, Claudio, Bozzali, M, Bruni, A.C., Cappa, S.F., Escudero, Javier, Fraga, F.J., Giannakopoulos, P., Guntekin, Bahar, Logroscino, Giancarlo, Marra, C, Miraglia, F, Panza, F, Tecchio, F, Pascual-Leone, Alvaro, and Dubois, B.
- Abstract
Alzheimer’s disease (AD) is the most common neurodegenerative disease among the elderly with a progressive decline in cognitive function significantly affecting quality of life. Both the prevalence and emotional and financial burdens of AD on patients, their families, and society are predicted to grow significantly in the near future, due to a prolongation of the lifespan. Several lines of evidence suggest that modifications of risk-enhancing life styles and initiation of pharmacological and non-pharmacological treatments in the early stage of disease, although not able to modify its course, helps to maintain personal autonomy in daily activities and significantly reduces the total costs of disease management. Moreover, many clinical trials with potentially disease-modifying drugs are devoted to prodromal stages of AD. Thus, the identification of markers of conversion from prodromal form to clinically AD may be crucial for developing strategies of early interventions. The current available markers, including volumetric MRI, PET, and CSF analysis are expensive, poorly available in community health facilities, and relatively invasive. Taking into account its low cost, widespread availability and non-invasiveness, EEG would represent a candidate for tracking the prodromal phases of cognitive decline in routine clinical settings eventually in combination with other markers. After providing a short overview of the epidemiology and markers in AD, this review aimed to explore whether advanced analysis of EEG rhythms exploring brain function has sufficient specificity/sensitivity/accuracy to screen out the risk of conversion from Mild cognitive Impairment (MCI, a condition which is prodromal to AD in a high percentage of cases) to AD as a first-level screening method.
- Published
- 2020
15. Early diagnosis of Alzheimer's disease: the role of biomarkers including advanced EEG signal analysis. Report from the IFCN-sponsored panel of experts
- Author
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Rossini, Paolo Maria, Di Iorio, Riccardo, Vecchio, F., Anfossi, Maria, Babiloni, C., Bozzali, M., Bruni, Amalia Cecilia, Cappa, Stefano F., Escudero, Julien, Fraga, Francisco Jose, Giannakopoulos, Panteleimon, Güntekin, Bahar, Logroscino, Giancarlo, Marra, Camillo, Miraglia, F., Panza, Francesco, Tecchio, F., Pascual-Leone, Alvaro, and Dubois, Bruno
- Subjects
Mild Cognitive Impairment ,EEG Analysis ,Early Diagnosis ,AD Biomarkers ,EEG Rhythms ,Dementia ,Event-Related Responses ,Alzheimer's Disease - Abstract
Alzheimer's disease (AD) is the most common neurodegenerative disease among the elderly with a progressive decline in cognitive function significantly affecting quality of life. Both the prevalence and emotional and financial burdens of AD on patients, their families, and society are predicted to grow significantly in the near future, due to a prolongation of the lifespan. Several lines of evidence suggest that modifications of risk-enhancing life styles and initiation of pharmacological and nonpharmacological treatments in the early stage of disease, although not able to modify its course, helps to maintain personal autonomy in daily activities and significantly reduces the total costs of disease management. Moreover, many clinical trials with potentially disease-modifying drugs are devoted to prodromal stages of AD. Thus, the identification of markers of conversion from prodromal form to clinically AD may be crucial for developing strategies of early interventions. The current available markers, including volumetric magnetic resonance imaging (MRI), positron emission tomography (PET), and cerebral spinal fluid (CSF) analysis are expensive, poorly available in community health facilities, and relatively invasive. Taking into account its low cost, widespread availability and non-invasiveness, electroencephalography (EEG) would represent a candidate for tracking the prodromal phases of cognitive decline in routine clinical settings eventually in combination with other markers. In this scenario, the present paper provides an overview of epidemiology, genetic risk factors, neuropsychological, fluid and neuroimaging biomarkers in AD and describes the potential role of EEG in AD investigation, trying in particular to point out whether advanced analysis of EEG rhythms exploring brain function has sufficient specificity/sensitiv ity/accuracy for the early diagnosis of AD. H2020 Marie S. Curie ITN-ETN project Turkish Academy of Sciences (TUBA), Turkey, The Young Scientists Award Programme (GEBIP) Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)
- Published
- 2020
16. Development of molecular biosensors for the detection of alpha-synuclein aggregation in cells
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Miraglia, F
- Subjects
endoplasmic reticulum ,Parkinson's Disease ,alpha-synuclein ,BIO/10 BIOCHIMICA ,aggregation ,FRET ,oligomers ,biosensors ,BIO/11 BIOLOGIA MOLECOLARE ,alpha-synuclein, oligomers, aggregation, biosensors, FRET, endoplasmic reticulum, Parkinson's Disease - Published
- 2020
17. Methods for analysis of brain connectivity : An IFCN-sponsored review
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Rossini, P. M., Di Iorio, R., Bentivoglio, M., Bertini, G., Ferreri, F., Gerloff, C., Ilmoniemi, R. J., Miraglia, F., Nitsche, M. A., Pestilli, F., Rosanova, M., Shirota, Y., Tesoriero, C., Ugawa, Y., Vecchio, F., Ziemann, U., Hallett, M., HUS Medical Imaging Center, BioMag Laboratory, and University of Helsinki
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TRANSCRANIAL MAGNETIC STIMULATION ,MEG ,TMS-EEG ,Anatomical connectivity ,Human brain connectome ,INDEPENDENT COMPONENT ANALYSIS ,PRIMARY MOTOR CORTEX ,fMRI ,3112 Neurosciences ,FRONTAL-LOBE INPUTS ,Connectomics ,RESTING HUMAN BRAIN ,3124 Neurology and psychiatry ,Functional connectivity ,GRAPH-THEORETICAL ANALYSIS ,DORSAL PREMOTOR CORTEX ,CONTRALATERAL PRIMARY MOTOR ,Brain connectivity ,EEG ,Non-invasive brain stimulation ,CORTICAL EFFECTIVE CONNECTIVITY ,Effective connectivity ,RETROGRADE AXONAL-TRANSPORT - Abstract
The goal of this paper is to examine existing methods to study the "Human Brain Connectome" with a specific focus on the neurophysiological ones. In recent years, a new approach has been developed to evaluate the anatomical and functional organization of the human brain: the aim of this promising multimodality effort is to identify and classify neuronal networks with a number of neurobiologically meaningful and easily computable measures to create its connectome. By defining anatomical and functional connections of brain regions on the same map through an integrated approach, comprising both modern neurophysiological and neuroimaging (i.e. flow/metabolic) brain-mapping techniques, network analysis becomes a powerful tool for exploring structural-functional connectivity mechanisms and for revealing etiological relationships that link connectivity abnormalities to neuropsychiatric disorders. Following a recent IFCN-endorsed meeting, a panel of international experts was selected to produce this current state-of-art document, which covers the available knowledge on anatomical and functional connectivity, including the most commonly used structural and functional MRI, EEG, MEG and non-invasive brain stimulation techniques and measures of local and global brain connectivity. (C) 2019 Published by Elsevier B.V. on behalf of International Federation of Clinical Neurophysiology.
- Published
- 2019
18. Algebraic K-theory of special groups
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Dickmann, M. and Miraglia, F.
- Published
- 2006
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19. On quadratic forms whose total signature is zero mod 2nSolution to a problem of M. Marshall: Solution to a problem of M. Marshall
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Dickmann, M. A. and Miraglia, F.
- Published
- 1998
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20. Lattice-ordered reduced special groups
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Dickmann, M., Marshall, M., and Miraglia, F.
- Published
- 2005
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21. Enteric Alpha-synuclein inclusions, colonic inflammation, increased mucosal permeability and alterations of Bowel neuromuscular functiond precede central neurodegeneration in a transgenic mouse model of Parkinson's disease
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Pellegrini, C, Antonioli, L, Colucci, R, Benvenuti, L, D'Antongiovanni, V, Rota, L, Miraglia, F, Testa, G, Capsoni, S, Cattaneo, A, Colla, E, Blandizzi, C, Fornai, M, Pellegrini, Carolina, Antonioli, Luca, Colucci, Rocchina, Benvenuti, Laura, D'Antongiovanni, Vanessa, Rota, Lucia, Miraglia, Fabiana, Testa, Giovanna, Capsoni, Simona, Cattaneo, Antonino, Colla, Emanuela, Blandizzi, Corrado, and Fornai, Matteo
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Settore BIO/17 - Istologia ,Settore BIO/13 - Biologia Applicata ,Settore BIO/10 - Biochimica ,Settore BIO/11 - Biologia Molecolare ,Settore BIO/09 - Fisiologia ,NO - Abstract
Introduction. Gastrointestinal dysfunctions represent one of the most common non-motor symptoms of Parkinson's disease (PD). Several lines of evidence suggest that enteric accumula- tion of α-synuclein (αS) inclusions (a hallmark of PD) and colonic inflammation could contribute to bowel motor dysfunctions since the earliest stages of PD. However, current knowledge does not allow to establish a clear relationship between altered mucosal permeabil- ity, enteric inflammation, bowel dysmotility and PD pathology. This study examined concom- itantly enteric αS accumulation, mucosal permeability, bowel inflammation and in vitro colonic motor activity in a transgenic model of PD, before onset of neurodegeneration in the CNS. Methods. PrP human A53T αS transgenic (Tg) mice, Line G2-3 develop a progres- sive PD-like neurological and motor deficiency after 9 months of age, accompanied by neuronal degeneration and pathological accumulation of aggregated αS in the central nervous system (CNS). Animals were sacrificed at the age of 3, 6 and 9 months, in order to evaluate the presence and timing of enteric αS inclusions, alterations of intestinal mucosal barrier and colonic inflammation since the very early phases of the disease, before the overt develop- ment of CNS dysfunction. Blood samples were collected to evaluate circulating lipopolysac- charide (LPS) levels (an indirect index of intestinal permeability) by ELISA assay; then distal colon was excised and processed for: 1) expression and aggregation of αS (western blot); 2) tissue tumor necrosis factor (TNF) and interleukin-1beta (IL-1β) (ELISA). Colonic longitu- dinal and circular muscle preparations were set up in organ baths with Krebs solution, and connected to isometric transducers to record contractions elicited by electrical stimulation (ES, 10 Hz, 0.5 ms, 30 mA). Results: An accumulation of insoluble and aggregated αS was present in the enteric neurons of the distal colon in Tg mice since 3 months of age, as compared with controls. In addition, at 3, 6 and 9 months of age Tg mice displayed a significant elevation of circulating LPS along with increased colonic TNF and IL-1β levels. Electrically evoked contractions in longitudinal and circular muscle preparations were impaired in Tg mice at 3, 6 and 9 months of age, as compared with controls. Conclusion. The present findings suggest that a concomitance of enteric αS accumulation, altered mucosal permeability, bowel inflammation and impaired colonic motor activity represent early events in PD, occurring before the onset of CNS neurodegeneration. These changes could contribute to the pathogenesis of intestinal motor dysfunctions known to be associated with PD in humans.
- Published
- 2019
22. Bounds for the representation of quadratic forms
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Dickmann, M.A. and Miraglia, F.
- Published
- 2003
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23. Connectivity modulation during sleep onset, reduction of movement: study via graph theory application to EEG data
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Alù, F., primary, Vecchio, F., additional, Miraglia, F., additional, Gorgoni, M., additional, Ferrara, M., additional, De Gennaro, L., additional, and Rossini, P.M., additional
- Published
- 2019
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24. Plasticity and brain connectivity
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Miraglia, F., primary
- Published
- 2018
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25. Obstetric Psychoprophylaxis Has now Come into Its Own
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Miraglia, F., Prill, Hans-Joachim, editor, Stauber, Manfred, editor, and Pechatschek, Paul-Georges, editor
- Published
- 1982
- Full Text
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26. Effects of transcranial direct current stimulation on the functional coupling of the motor cortical network
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Vecchio, F, Pellicciari, Mc, Miraglia, F, Brignani, D, Miniussi, C, and Rossini, Pm
- Published
- 2016
27. AB1096 Timed up and go test (TUG) for sarcopenia screening
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Filippin, LI, primary, Teixeira, VON, additional, Oliviera, NC, additional, Berwanger, DD, additional, and Miraglia, F, additional
- Published
- 2017
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28. P110 Transcranial direct current stimulation of the brain motor area generates a transient increase of small worldnessy in connectivity: An EEG graph theoretical analysis
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Miraglia, F., primary, Vecchio, F., additional, Iorio, R. Di, additional, Granata, G., additional, Romanello, R., additional, and Rossini, P.M., additional
- Published
- 2017
- Full Text
- View/download PDF
29. P075 Time-varying coupling of EEG oscillations predicts excitability fluctuations in the primary motor cortex as reflected by motor evoked potentials amplitude: An EEG-TMS study
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Vecchio, F., primary, Ferreri, F., additional, Miraglia, F., additional, Ponzo, D., additional, and Rossini, P.M., additional
- Published
- 2017
- Full Text
- View/download PDF
30. P117 Effects of transcranial direct current stimulation on the functional coupling of the sensorimotor cortical network
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Di Iorio, R., primary, Vecchio, F., additional, Pellicciari, M.C., additional, Miraglia, F., additional, Brignani, D., additional, Granata, G., additional, Miniussi, C., additional, and Rossini, P.M., additional
- Published
- 2017
- Full Text
- View/download PDF
31. P293 Assessment of primary motor cortex plastic changes following the use of a new prosthetic system able to provide somatosensory feedback from the missing hand in an amputee patient: A TMS study
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Iorio, R. Di, primary, Granata, G., additional, Vecchio, F., additional, Miraglia, F., additional, and Rossini, P.M., additional
- Published
- 2017
- Full Text
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32. 30. Age related differences in time-varying coupling of EEG oscillations predict connectivity and excitability fluctuations in the Primary Motor Cortex: A TMS-EEG study
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Ferreri, F., primary, Vecchio, F., additional, Guerra, A., additional, Miraglia, F., additional, Ponzo, D., additional, Vollero, L., additional, Iannello, G., additional, Mervaala, E., additional, Maatta, S., additional, Rossini, P.M., additional, and Di Lazzaro, V., additional
- Published
- 2016
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33. The matter of architecture: the medieval walls of Benevento
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GUERRIERO, Luigi, D'Orta L, Manco A, Miraglia F., Gambardella C, Guerriero, Luigi, D'Orta, L, Manco, A, and Miraglia, F.
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Benevento ,Urban walls ,Urban wall ,Metrology - Published
- 2013
34. Nuove evidenze per una localizzazione del 'Castrum Pilanum' menzionato da Erchemperto
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Panarello, Adolfo, Farinaro, G., and Miraglia, F.
- Published
- 2015
35. Elementary properties of the Boolean hull and reduced quotient functors
- Author
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Dickmann, M.A. and Miraglia, F.
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Symbolic and mathematical logic -- Analysis ,Mathematical logic -- Analysis ,Algebra, Boolean -- Analysis ,Mathematics - Abstract
The Boolean hull functor preserves equivalence in the infinitary language L(sub infinity w) for arbitrary reduced special groups. The Keisler-Shelah ultrapower characterization of elementary equivalence is used.
- Published
- 2003
36. Rilievo materico e restauro: le mura urbane di Benevento
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Guerriero, Luigi, Miraglia, F, Manco, A, Pagano, D, D'Orta, L., Minond E, Borda A, Ferraris R, Guerriero, Luigi, Miraglia, F, Manco, A, Pagano, D, and D'Orta, L.
- Published
- 2012
37. Tecniche costruttive medievali in Terra di lavoro: note su Castel Volturno, Pontelatone e Formicola
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Guerriero, Luigi, Miraglia, F., Guerriero, Luigi, and Miraglia, F.
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Mensiocronologia ,Terra di Lavoro ,Murature medievali - Abstract
Note sulla caratterizzazione mensiocronologica di paramenti tardomedievali leborini
- Published
- 2010
38. 6. Sensory-motor networks’ topology in multiple sclerosis fatigue
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Miraglia, F., primary, Vecchio, F., additional, Porcaro, C., additional, Cottone, C., additional, Cancelli, A., additional, Rossini, P.M., additional, and Tecchio, F., additional
- Published
- 2016
- Full Text
- View/download PDF
39. 7. EEG characteristics in “eyes open” vs “eyes closed” conditions: Small world network architecture in healthy aging and age-related brain degeneration
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Miraglia, F., primary, Vecchio, F., additional, and Rossini, P.M., additional
- Published
- 2016
- Full Text
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40. 20. Cortical brain connectivity evaluated by graph theory in dementia: A correlation study between functional and structural data
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Vecchio, F., primary, Miraglia, F., additional, Curcio, G., additional, Altavilla, R., additional, Scrascia, F., additional, Giambattistelli, F., additional, Quattrocchi, C.C., additional, Vernieri, F., additional, and Rossini, P.M., additional
- Published
- 2016
- Full Text
- View/download PDF
41. ID 287 – Sensory feedback generated by intraneural electrical stimulation of peripheral nerves drives cortical reorganization and relieves phantom limb pain: A case study
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Granata, G., primary, Vecchio, F., additional, Miraglia, F., additional, Raspopovic, S., additional, Petrini, F., additional, Micera, S., additional, and Rossini, P.M., additional
- Published
- 2016
- Full Text
- View/download PDF
42. ID 126 – Cortical connectivity and lesion volumes correlation in acute stroke patients: A study via graph theory from EEG data
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Vecchio, F., primary, Caliandro, P., additional, Miraglia, F., additional, Piludu, F., additional, Iacovelli, C., additional, Lacidogna, G., additional, Reale, G., additional, Colosimo, C., additional, and Rossini, P.M., additional
- Published
- 2016
- Full Text
- View/download PDF
43. ID 129 – EEG characteristics in “eyes open” vs “eyes closed” conditions: Small world network architecture in healthy aging and age-related brain degeneration
- Author
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Miraglia, F., primary, Vecchio, F., additional, and Rossini, P.M., additional
- Published
- 2016
- Full Text
- View/download PDF
44. ID 110 – Sensory-motor networks’ topology in multiple sclerosis fatigue
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Vecchio, F., primary, Miraglia, F., additional, Porcaro, C., additional, Cottone, C., additional, Cancelli, A., additional, Rossini, P.M., additional, and Tecchio, F., additional
- Published
- 2016
- Full Text
- View/download PDF
45. ID 127 – Small world characteristics of cortical connectivity in acute stroke
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Caliandro, P., primary, Vecchio, F., additional, Miraglia, F., additional, Iacovelli, C., additional, Della Marca, G., additional, Lacidogna, G., additional, Reale, G., additional, Di Giannantoni, N., additional, Padua, L., additional, and Rossini, P.M., additional
- Published
- 2016
- Full Text
- View/download PDF
46. Cortical connectivity in fronto-temporal focal epilepsy from EEG analysis: A study via graph theory
- Author
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Miraglia, F., primary, Vecchio, F., additional, Curcio, G., additional, Della Marca, G., additional, Vollono, C., additional, Mazzucchi, E., additional, and Rossini, P.M., additional
- Published
- 2016
- Full Text
- View/download PDF
47. ID 125 – Cortical brain connectivity evaluated by graph theory in dementia: A correlation study between functional and structural data
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Vecchio, F., primary, Miraglia, F., additional, Curcio, G., additional, Altavilla, R., additional, Scrascia, F., additional, Giambattistelli, F., additional, Quattrocchi, C.C., additional, Vernieri, F., additional, and Rossini, P.M., additional
- Published
- 2016
- Full Text
- View/download PDF
48. Cortical connectivity and memory performance in cognitive decline: A study via graph theory from EEG data
- Author
-
Vecchio, F., primary, Miraglia, F., additional, Quaranta, D., additional, Granata, G., additional, Romanello, R., additional, Marra, C., additional, Bramanti, P., additional, and Rossini, P.M., additional
- Published
- 2016
- Full Text
- View/download PDF
49. Faithfully quadratic rings — a summary of results
- Author
-
Dickmann, M., primary and Miraglia, F., primary
- Published
- 2016
- Full Text
- View/download PDF
50. Small-worldness characteristics and its gender relation in specific hemispheric networks
- Author
-
Miraglia, F., primary, Vecchio, F., additional, Bramanti, P., additional, and Rossini, P.M., additional
- Published
- 2015
- Full Text
- View/download PDF
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