Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis.

Autor: Silvia Tore, Stefania Casula, Giuseppina Casu, Maria Pina Concas, Paola Pistidda, Ivana Persico, Alessandro Sassu, Giovanni Battista Maestrale, Caterina Mele, Maria Rosa Caruso, Bibiana Bonerba, Paolo Usai, Ivo Deiana, Timothy Thornton, Mario Pirastu, Paola Forabosco

Publikováno v: PLoS Genetics, Vol 7, Iss 1, p e1001281 (2011)

In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for uric acid nephrolithiasis. Our cohort of closely related individuals is derived from a smal

Externí odkaz: https://doaj.org/article/a71184c3484143e1a5dd9399a5170e56

All cats are gray in the dark: enrichment/depletion approaches for biomarker discovery on felis catus plasma

Autor: Daniela Pagnozzi, Maria Filippa Addis, Eric Zini, Laura Carcangiu, Silvia Tore, Sergio Uzzau, Salvatore Pisanu

In veterinary medicine, assay performance is often affected by the lack of species-specific diagnostic tools. Reliable biomarkers might be identified by investigating biological fluids of the species of interest, but protein sequence databases are of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::725475402e5287f4d00ef96c07ccc21b
https://www.zora.uzh.ch/id/eprint/159351/

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

Autor: Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giulia Ferrari, Anna Kowala, Yung‐Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni

Publikováno v: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 2, Pp 1360-1372 (2022)

Abstract Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle and is also expressed in the central nervous system (CNS). Two shor

Externí odkaz: https://doaj.org/article/f0e9fb8a39b84e67b80fc0751fc0cab9

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

Autor: Jacqueline C.M. Witteman, Nicole Probst-Hensch, Gail Davies, Anna Köttgen, Qunyuan Zhang, Pio D'Adamo, Nicholas G. Martin, Silvia Tore, Stephan J. L. Bakker, Gian Andri Thun, Cinzia Sala, Peter P. Pramstaller, Tamara B. Harris, Aaron Isaacs, Sheila Ulivi, Rossella Sorice, Xuan Liu, Andrew A. Hicks, Henry Völzke, Daniela Ruggiero, Arnold von Eckardstein, Yukinori Okada, Andres Metspalu, Jeffrey Metter, Serena Sanna, Jennifer E. Huffman, Philipp S. Wild, Florian Ernst, Eva Albrecht, Mary F. Feitosa, Claudia Schurmann, Kathrin Budde, Veikko Salomaa, Darina Czamara, Elizabeth G. Holliday, Marcel Bruinenberg, Laura Portas, Maris Laan, Alan J. Gow, Caroline Hayward, Tim D. Spector, Ozren Polasek, Ilja M. Nolte, Rodney J. Scott, Massimo Mangino, David S. Siscovick, Nilesh J. Samani, Toomas Haller, Laura Frogheri, A. Jula, Mika Kähönen, Bruce H. R. Wolffenbuttel, Caroline S. Fox, David R. Jacobs, Julia Shi, Yusuke Nakamura, Daniel I. Chasman, Fabian J. Theis, Alan F. Wright, Ayse Demirkan, Francesco Cucca, Paolo Gasparini, Paul M. Ridker, Olli T. Raitakari, Daniela Toniolo, Maristella Steri, Mario Pirastu, Susan Campbell, Maksim Struchalin, So-Youn Shin, Mark J. Caulfield, H.-Erich Wichmann, Grant W. Montgomery, Åsa Johansson, Alexander Teumer, Ulf Gyllensten, Robert M. Plenge, Michel Burnier, Michael Schallert, Jan Krumsiek, Jing Hua Zhao, Andres Salumets, Poorva Mudgal, Anke Tönjes, James F. Meschia, Gauti Kjartan Gislason, Perttu Salo, Angela Döring, Afshin Parsa, Vilmundur Gudnason, Patrick F. McArdle, Rita P. S. Middelberg, W. H. Linda Kao, Aldi Kraja, Christopher Oldmeadow, Adrienne Tin, Loic Yengo, Murielle Bochud, Gerjan Navis, Christian Gieger, Toshiko Tanaka, Cornelia M. van Duijn, Samuli Ripatti, Terho Lehtimäki, Claudia Langenberg, Bernhard O. Boehm, Conall M. O'Seaghdha, Eric Boerwinkle, Nicole Soranzo, Tõnu Esko, Susan M. Farrington, Mike A. Nalls, John F. Peden, Hyon K. Choi, Anuj Goel, Andrew D. Johnson, Norman Klopp, Anne Grotevendt, Halit Ongen, Marcus E. Kleber, Myriam Fornage, Malcolm G. Dunlop, Igor Rudan, Federico Murgia, Beverley Balkau, Jorma Viikari, Christopher P. Nelson, Gérard Waeber, Lenore J. Launer, Ivana Persico, Inga Prokopenko, Guo Li, Tatijana Zemunik, Elisabetta Trabetti, Tanja Zeller, Hugh Watkins, Qiong Yang, James F. Wilson, Peter Vollenweider, Veronique Vitart, Markus Perola, Nicola Pirastu, Olivier Devuyst, Irene Mateo Leach, John Attia, Bruce M. Psaty, Nicholas J. Wareham, Susanne Lucae, Josef Coresh, Ingrid B. Borecki, Claudia Hundertmark, Weihua Zhang, Luigi Ferrucci, Jaspal S. Kooner, Stefan Kloiber, Lynda M. Rose, Naoyuki Kamatani, Zoltán Kutalik, Giovanni Malerba, Ian J. Deary, Albert V. Smith, Helena Schmidt, Eva Lattka, Philippe Froguel, Harry Campbell, Medea Imboden, Antonio Lupo, Angelo L. Gaffo, Vasiliki Lagou, Alan R. Shuldiner, John Whitfield, Abbas Dehghan, Winfried März, Elin Org, Albert Hofman, Margus Viigimaa, Konstantin Strauch, Toshihiro Tanaka, Andrew B. Singleton, Stefania Bandinelli, Christian Hengstenberg, Xinzhong Li, Wiek H. van Gilst, Pim van der Harst, Giorgio Pistis, Jerome I. Rotter, Maria Grazia Piras, Gary C. Curhan, Brenda W.J.H. Penninx, Ramaiah Nagaraja, Nabila Bouatia-Naji, Christian Müller, Ronald P. Stolk, Pau Navarro, Lorna M. Lopez, Ruth J. F. Loos, Albert Tenesa, Johannes H. Smit, Peter Kraft, Giovanni Gambaro, Sarah H. Wild, Patricia B. Munroe, André G. Uitterlinden, Ivana Kolcic, Bernhard R. Winkelmann, Pankaj Sharma, John C. Chambers, Nicholas D. Hastie, Matthias Nauck, Harold Snieder, Michael Stumvoll, Reinhold Schmidt, Hans L. Hillege, Kiang Liu, Fernando Rivadeneira, Owen M. Woodward, Morris J. Brown, Margus Putku, Sabine Schipf, Mirna Kirin, Kay-Tee Khaw, Melanie Waldenberger, Evropi Theodoratou, Marina Ciullo, Michiaki Kubo

Publikováno v: Nature Genetics, 45(2), 145-154. Nature Publishing Group
Nature Genetics
Nature Genetics, 45(2), 145-54. Nature Publishing Group
Kottgen, A, Albrecht, E, Teumer, A, Vitart, V, Krumsiek, J, Hundertmark, C, Pistis, G, Ruggiero, D, O'Seaghdha, C M, Haller, T, Yang, Q, Johnson, A D, Kutalik, Z, Smith, A V, Shi, J L, Struchalin, M, Middelberg, R P S, Brown, M J, Gaffo, A L, Pirastu, N, Li, G, Hayward, C, Zemunik, T, Huffman, J, Yengo, L, Zhao, J H, Demirkan, A, Feitosa, M F, Liu, X, Malerba, G, Lopez, L M, van der Harst, P, Li, X Z, Kleber, M E, Hicks, A A, Nolte, I M, Johansson, A, Murgia, F, Wild, S H, Bakker, S J L, Peden, J F, Dehghan, A, Steri, M, Tenesa, A, Lagou, V, Salo, P, Mangino, M, Rose, L M, Lehtimaki, T, Woodward, O M, Okada, Y, Tin, A, Muller, C, Oldmeadow, C, Putku, M, Czamara, D, Kraft, P, Frogheri, L, Thun, G A, Grotevendt, A, Gislason, G K, Harris, T B, Launer, L J, McArdle, P, Shuldiner, A R, Boerwinkle, E, Coresh, J, Schmidt, H, Schallert, M, Martin, N G, Montgomery, G W, Kubo, M, Nakamura, Y, Tanaka, T, Munroe, P B, Samani, N J, Jacobs, D R, Liu, K, d'Adamo, P, Ulivi, S, Rotter, J I, Psaty, B M, Vollenweider, P, Waeber, G, Campbell, S, Devuyst, O, Navarro, P, Kolcic, I, Hastie, N, Balkau, B, Froguel, P, Esko, T, Salumets, A, Khaw, K T, Langenberg, C, Wareham, N J, Isaacs, A, Kraja, A, Zhang, Q Y, Penninx, B W J H, Smit, J H, Bochud, M & Gieger, C 2013, ' Genome-wide association analyses identify 18 new loci associated with serum urate concentrations ', Nature Genetics, vol. 45, no. 2, pp. 145-154 . https://doi.org/10.1038/ng.2500
Köttgen, A, Albrecht, E, Teumer, A, Vitart, V, Krumsiek, J, Hundertmark, C, Pistis, G, Ruggiero, D, O'Seaghdha, C M, Haller, T, Yang, Q, Tanaka, T, Johnson, A D, Kutalik, Z, Smith, A V, Shi, J, Struchalin, M, Middelberg, R P S, Brown, M J, Gaffo, A L, Pirastu, N, Li, G, Hayward, C, Zemunik, T, Huffman, J, Yengo, L, Zhao, J H, Demirkan, A, Feitosa, M F, Liu, X, Malerba, G, Lopez, L M, van der Harst, P, Li, X, Kleber, M E, Wild, S H, Tenesa, A, Navarro, P, Hastie, N, Davies, G, Gow, A J, Wilson, J F, Farrington, S M, Theodoratou, E, Polasek, O, Campbell, H, Rudan, I, Deary, I J & Wright, A F & Dunlop, M G 2013, ' Genome-wide association analyses identify 18 new loci associated with serum urate concentrations ', Nature Genetics, vol. 45, no. 2, pp. 145-154 . https://doi.org/10.1038/ng.2500
Nature genetics
(2013). doi:10.1038/ng.2500
info:cnr-pdr/source/autori:Köttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T, Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg RP, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T, Huffman J, Yengo L, Zhao JH, Demirkan A, Feitosa MF, Liu X, Malerba G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM, Johansson A, Murgia F, Wild SH, Bakker SJ, Peden JF, Dehghan A, Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimäki T, Woodward OM, Okada Y, Tin A, Müller C, Oldmeadow C, Putku M, Czamara D, Kraft P, Frogheri L, Thun GA, Grotevendt A, Gislason GK, Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M, Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR Jr, Liu K, D'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G, Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B, Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ, Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E, Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R, Döring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann HE, Davies G, Gow AJ, Bruinenberg M; LifeLines Cohort Study, Stolk RP, Kooner JS, Zhang W, Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G, Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Mateo Leach I, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F, Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R, Piras MG, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM, Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa V, Shin SY, Spector TD, Sala C, Ridker PM, Kähönen M, Viikari J, Hengstenberg C, Nelson CP; CARDIoGRAM Consortium; DIAGRAM Consortium; ICBP Consortium; MAGIC Consortium, Meschia JF, Nalls MA, Sharma P, Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M, Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S, Probst-Hensch NM, Völzke H, Gudnason V, Parsa A, Schmidt R, Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Pola?ek O, Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJ, van Duijn CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BH, Chambers JC, März W, Pramstaller PP, Snieder H, Gyllensten U, Wright AF, Navis G, Watkins H, Witteman JC, Sanna S, Schipf S, Dunlop MG, Tönjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI, Raitakari O, Kao WH, Ciullo M, Fox CS, Caulfield M, Bochud M, Gieger C./titolo:Genome-wide association analyses identify 18 new loci associated with serum urate concentrations/doi:10.1038%2Fng.2500/rivista:Nature genetics (Print)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume
Nature Genetics; Vol 45
Nature Genetics, vol. 45, no. 2, pp. 145-154
Human Genetics, 45(2):145, 154-11. Springer-Verlag

Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc47fb35390519f51b5ff7c2f271262b
https://www.bib.irb.hr/639277

Expression pattern of zygote arrest 1 (ZAR1), maternal antigen that embryo requires (MATER), growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) genes in ovine oocytes and in vitro-produced preimplantation embryos

Autor: Sara Succu, Salvatore Naitana, Fiammetta Berlinguer, Giovanni Giuseppe Leoni, S Fois, Luisa Bogliolo, Silvia Tore, Sergio Ledda, Federica Ariu, Daniela Bebbere

Publikováno v: Reproduction, fertility, and development. 20(8)

The expression patterns of four maternal effect genes (MEG), namely zygote arrest 1 (ZAR1), maternal antigen that embryo requires (MATER), growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15), were determined in ovine oocy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ce6ac8b55963638ffc40653a3e26549
https://pubmed.ncbi.nlm.nih.gov/19007555