التفاصيل البيبلوغرافية
العنوان:
β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease
المؤلفون:
Vittori, A , Orth, M , Roos, Ra , Outeiro, Tf , Giorgini, F , Hollox, Ej , Bachoud-Levi, Ac , Bentivoglio, Ar , Biunno, I , Bonelli, Rm , Burgunder, Jm , Dunnett, Sb , Ferreira, Jj , Handley, Oj , Heiberg, A , Illmann, T , Landwehrmeyer, Gb , Levey, J , Martinez-Jaurrieta, Md , Nielsen, Je , Pro Koivisto, S , Piiiviirinta, M , Sebastian, Ar , Tabrizi, Sj , Vandenberghe, W , Verellen-Dumoulin, C , Zaremba, J , Uhrova, T , Wahlstrom, J , Barth, K , Correia-Guedes, L , Finisterra, Am , Bascuiiana Garde, M , Betz, S , Bos, R , Ecker, D , Held, C , Koppers, K , Laura, M , Descals, Am , Mestre, T , Monza, D , Townhill, J , Padieu, H , Paterski, L , Peppa, N , Rialland, A , Røren, N , Sasinkova, P , Trigo Cubillo, P , van Walsem, M , Witjes-Ane, Mn , Yudina, E , Zielonka, D , Zielonka, E , Zinzi, P , Herranhof, B , Hod, A , Kapfhammer, Hp , Koppitz, M , Magnet, M , Otti, D , Painold, A , Reisinge, K , Scheib, M , Hecht, K , Lilek, S , Muller, N , Schoggl, H , Ullah, J , Ribal, P , Klempff, J , Majerova, V , Roth, J , Hjermind, Le , Jakobsen, O , Vinthev-Jensen, T , Larsen, Iu , Stokholm, J , Hiivola, H , Martikainen, K , Tuuha, K , Santala, M , Milkereit, E , Kosinski, Cm , Probst, D , Reetz, K , Sass, C , Schiefer, J , Schlangen, C , Werner, Cj , Andrich, J , Ellrichmann, G , Hoffmann, R , Kaminski, B , Saft, C , Stamm, C , Lange, H , Lohle, M , Schmidt, S , Storch, A , Wolz, A , Wolz, M , Capetian, P , Lambeck, J , Zucker, B , Boelmans, K , Ganos, C , Hidding, U , Lewerenz, J , Miinchau, A , Schmalfeld, J , Stubbe, L , Zittel, S , Heinicke, W , Ribbat, M , Longinus, B , Miihlau, M , Peinemann, A , Stiidtler, M , Weindl, A , Winkelmann, J , Ziegler, C , Bechtel, N , Beckmann, H , Bohlen, S , Holzner, E , Reilmann, R , Rohm, S , Rumpf, S , Schepers, S , Dose, M , Leythaeuser, G , Marquard, R , Raab, T , Schrenk, C , Schuierer, M , Buck, A , Eschenbach, C , Landwehrmeyer, B , Lezius, F , Nepper, S , Niess, A , Schwenk, D , Siissmuth, S , Trautmann, S , Weydt, P , Cormio, C , de Tommaso, M , Sciruicchio, V , Serpino, C , Ghelli, E , Ginestroni, A , Bertini, E , Massaro, F , Mechi, C , Paganini, M , Piacentini, S , Pradella, S , Romoli, Am , Sorbi, S , Abbruzzese, G , Ferrandes, Mb , Di Maria, E , Ferrandes, G , Mandich, P , Marchese, R , Di Donato, S , Gellera, C , Genitrini, S , Mariotti, C , Nanetti, L , Soliveri, P , Tomasello, C , De Michele, G , Dimaio, L , Massarelli, M , Rinaldi, C , Roca, A , Rossi, F , Russo, Cv , Salvatore, E , Sorrentino, P , Tucci, T , De Nicola, A , Elifani, F , Petrollini, M , Martino, T , Lovo, F , Squitieri, F , Catalli, C , Di Giacopo, R , Fasano, A , Frontali, M , Guidubaldi, A , Ialongo, T , Jacopini, G , Loria, G , Piano, C , Piccininni, C , Quaranta, D , Romano, S , Soleti, F , Spadaro, M , van Hout MS , van Vugt JP , de Weert, A , Bolwijn, Jj , Neurologie, P , Dekker, M , Leenders, Kl , van Oostrom JC , Dumas, Em , Jurgens, Ck , van den Bogaard SJ , 't Hart EP , Kremer, B , Verstappen, Cc , van Walsem MR , Frich, J , Aaserud, O , Wehus, R , Bjørgo, K , Fannemel, M , Gørvell, P , Lorentzen, E , Koivisto, Sp , Retterstøl, L , Stokke, B , Bjørnevoll, I , Sando, Sb , Dziadkiewicz, A , Nowak, M , Robowski, P , Sitek, E , Slawek, J , Soltan, W , Szinwelski, M , Blaszczyk, M , Boczarska-Jedynak, M , Ciach-Wysocka, E , Gorzkowska, A , Jasinska-Myga, B , Opala, G , Klodowska, G , Stompel, D , Banaszkiewicz, K , Boewiriska, D , Bojakowska-Jaremek, K , Neurologii, A , Dec, M , Krawczyk, M , Rudziriska, M , Szczudlik, A , Szczygiel, E , Wasielewska, A , Wojcik, M , Bryl, A , Ciesielska, A , Klimberg, A , Marcinkowski, J , Samara, H , Sempolowicz, J , Janik, P , Kalbarczyk, A , Kwiecinski, H , Jamrozik, Z , Antczak, J , Jachinska, K , Krysa, W , Rakowicz, M , Richter, P , Rola, R , Ryglewicz, D , Sienkiewicz-Jarosz, H , Sulek, A , Witkowski, G , Zdzienicka, E , Zieora-Jakutowicz, K , Coelho, M , Mendes, T , Valadas, A , Andrade, C , Joao, Ps , Gago, M , Garrett, C , Guerra, Mr , Solis, P , Herrera, Cd , Garcia, Pm , Cubo, E , Mariscal, N , Sanchez, J , Barrero, Fj , Alonso-Frech, F , Perez, Mr , Fenollar, M , Garda, R , Rivera, Sv , Villanueva, C , Alegre, J , Bascuiiana, M , Ventura, Mf , Ribas, Gg , Moreno, Jl , Cubillo, Pt , Rufz, Pj , Frech, Fa , Dfaz, J , Guerrero, R , Artiga, Mj , Sanchez, V , Alcaraz, Lf , de Ia Arrixaca, V , Manzanares, S , Perea, Mf , Reinante, G , Arrixaca, Ia , Torres, Mm , Moreau, Lv , Barbera, Ma , Guia, Db , Hernanz, Lc , Catena, Jl , Sebastian, R , Ferrer, Pq , Carruesco, Gt , Bas, J , Busquets, N , Calopa, M , Buongiorno, Mt , Munoz, E , Elorza, Md , Lopez, Cd , Terol, Ds , Robert, Mf , Rufz, Bg , Casado, Ag , Martinez, Ih , Viladrich, Cm , Pons, R , Roca, E , Llesoy, Jr , Idiago, Jm , Vergara, Mr , Garcia, Ss , Riballo, Av , Hoglund, A , Palhagen, Se , Paucar, M , Sandstrom, B , Svenningsson, P , Reza-Soltani, Tw , Kaelin, A , Romero, I , Schupbach, M , Stebler, Y , Zaugg, Sw , Akhtar, S , Crooks, J , Curtis, A , de Souza, J , Rickards, H , Wright, J , Barker, Ra , Di Pietro, A , Fisher, K , Goodman, Ao , Hill, S , Kershaw, A , Mason, S , O'Keefe, D , Swain, R , Guzman, Nv , Busse, M , Butcher, C , Clenaghan, C , Dunnett, S , Fullam, R , Jones, L , Jones, U , Khalil, H , Minster, S , Owen, M , Hunt, S , Price, K , Rosser, A , Edwards, M , Ho, C , Mcgill, M , Pearson, P , Porteous, M , Brockie, P , Foster, J , Johns, N , Mckenzie, S , Rothery, J , Thomas, G , Yates, S , Burrows, L , Chu, C , Fletcher, A , Gallantrae, D , Harding, A , Hamer, S , Kraus, A , Laver, F , Longthorpe, M , Markova, I , Raman, A , Silva, M , Thomson, A , Wild, S , Yardumian, P , Hobson, E , Jamieson, S , Musgrave, H , Rowett, L , Toscano, J , Clayton, C , Dipple, H , Middleton, J , Patino, D , Andrews, T , Dougherty, A , Kavalier, F , Golding, C , Laing, H , Lashwood, A , Robertson, D , Ruddy, D , Whaite, A , Santhouse, A , Bruno, S , Doherty, K , Lahiri, N , Novak, M , Patel, A , Rosser, E , Tabrizi, S , Taylor, R , Warner, T , Wild, E , Arran, N , Bek, J , Callaghan, J , Craufurd, D , Howard, L , Hare, M , Huson, S , Johnson, L , Jones, M , Murphy, H , Oughton, E , Partington-Janes, L , Rogers, D , Snowden, J , Sollom, A , Stopford, C , Thompson, J , Trender-Gerhard, I.
المساهمون:
Vittori, Angelica, Orth, Michael, Roos, Raymund A C, Outeiro, Tiago F, Giorgini, F, Russo, Cinzia Valeria, Flaviano, Hollox, Edward J
سنة النشر:
2013
مصطلحات موضوعية:
Adult , Male , Age of Onset , DNA Copy Number Variations , Female , Genotype , Humans , Huntington Disease , Middle Aged , beta-Defensins , Disease , Biology , Genetic modifier , Article , Pathogenesis , 03 medical and health sciences , Cellular and Molecular Neuroscience , 0302 clinical medicine , Huntington's disease , medicine , Copy-number variation , Defensin , 030304 developmental biology , Genetics , 0303 health sciences , copy number variation , inflammation , Acquired immune system , medicine.disease , 3. Good health , Beta defensin , Neurology (clinical) , Age of onset , 030217 neurology & neurosurgery
الوصف:
Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammations is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2)- encoded by DEFB4- is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. Therefore, DEFB4 may contribute to the neuroinflammatory processes observed in HD. Objective: In this study we tested the hypothesis that copy number variation (CNV) of the β-defensin region, including DEFB4, modifies the AO in HD. Methods and results: We genotyped β-defensin CNV in 490 HD individuals using the paralogue ratio test and found no association between β-defensin CNV and onset of HD. Conclusions: We conclude that it is unlikely that DEFB4 plays a role in HD pathogenesis.
اللغة:
English
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::933d130f934e4d586b1e33f52ad0a68aTest http://hdl.handle.net/11573/895282Test
حقوق:
OPEN
رقم الانضمام:
edsair.doi.dedup.....933d130f934e4d586b1e33f52ad0a68a
قاعدة البيانات:
OpenAIRE
