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Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communications
Nature Communications
In heterozygous genomes, allele-specific measurements can reveal biologically significant differences in DNA methylation between homologous alleles associated with local changes in genetic sequence. Current approaches for detecting such events from w
Autor:
Taner Basturk, Ali G. Gharavi, Patrick Hamilton, Nan Chen, Kai-Uwe Eckardt, Weiming Wang, Paul Brenchley, Olivia Balderes, Dong Ki Kim, Elisabet Ars, Antonio Amoroso, Mehmet Sukru Sever, Neil Ashman, Bartosz Foroncewicz, Dan Zhang, Maddalena Marasa, Francesca Lugani, Elion Hoxha, Mario Bonomini, Gang Liu, Detlef Bockenhauer, Hakki Arikan, Pietro A. Canetta, Bruno Vogt, Magdalena Durlik, Carlo Sidore, Abdulmecit Yildiz, Mehmet Koc, Magdalena Zoledziewska, Simone Sanna-Cherchi, Antonello Pani, Domenico Santoro, Francesca Zanoni, Landino Allegri, Matthias Kretzler, Ireneusz Habura, Claudia Izzi, Naomi Issler, Carmelita Marcantoni, Isabella Pisani, Monica Bodria, Hajeong Lee, Krzysztof Mucha, Ruth J. F. Loos, Lawrence H. Beck, Laura H. Mariani, Rolf A.K. Stahl, Eimear E. Kenny, Gonca E. Karahan, Pierre Ronco, Robert Kleta, Francesco Scolari, José Ballarín, Francesco Londrino, Bénédicte Stengel, Dario Roccatello, Atlas Khan, Belong Cho, Gerald B. Appel, Lili Liu, Xiaofan Hu, Savas Ozturk, Karla Mehl, Ming hui Zhao, Ruth J. Pepper, Shreeram Akilesh, Zhao Cui, Yifu Li, Anna Köttgen, Lambertus A. Kiemeney, Fatih Ozay, Jack F.M. Wetzels, Stephen H. Powis, Jun Zhang, Silvana Savoldi, Hong Ren, Matthias Wuttke, John O. Connolly, Yon Su Kim, Gianluigi Zaza, Chris Cheshire, Simona Granata, Andrew S. Bomback, Nurhan Seyahi, Donatella Spotti, Vladimir Tesar, Stephanie Dufek, Fernando C. Fervenza, Krzysztof Kiryluk, Barbara Moszczuk, Leszek Pączek, Agnieszka Perkowska-Ptasińska, Nikol Mladkova, Shelly Harris, Loreto Gesualdo, Hitoshi Suzuki, Jin Ho Park, Jana Reiterova, Julia M. Hofstra, Francesco Cucca, Li Lin, Laila Yasmin Mani, Sanjana Gupta, Ben Sprangers, Iuliana Ionita-Laza, Daniel C. Cattran, Gian Marco Ghiggeri, Sebahat Akgul, Horia Stanescu, Matthew G. Sampson, Piergiorgio Messa, Xialian Yu, Marieke J H Coenen, Hanna Debiec, Jingyuan Xie, Jing Xu, Yasar Caliskan, Raphael J. Rosen, Priya Krithivasan, Marco Galliani
Publikováno v:
Nature Communications
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Xie, Jingyuan; Liu, Lili; Mladkova, Nikol; Li, Yifu; Ren, Hong; Wang, Weiming; Cui, Zhao; Lin, Li; Hu, Xiaofan; Yu, Xialian; Xu, Jing; Liu, Gang; Caliskan, Yasar; Sidore, Carlo; Balderes, Olivia; Rosen, Raphael; Bodria, Monica; Zanoni, Francesca; Zhang, Yun; Krithivasan, Priya; ... (2020). The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis. Nature communications, 11(1), p. 1600. Nature Publishing Group 10.1038/s41467-020-15383-w
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Nature Communications, 11
Nature Communications, 11, 1
Xie, J, Liu, L, Mladkova, N, Li, Y, Ren, H, Wang, W, Cui, Z, Hu, X, Yu, X, Liu, G, Caliskan, Y, Sidore, C, Balderes, O, Rosen, R J, Bodria, M, Zanoni, F, Krithivasan, P, Mehl, K, Marasa, M, Khan, A, Ozay, F, Canetta, P A, Bomback, A S, Appel, G B, Sanna-Cherchi, S, Sampson, M G, Mariani, L H, Perkowska-Ptasinska, A, Durlik, M, Mucha, K, Moszczuk, B, Foroncewicz, B, Pączek, L, Habura, I, Ars, E, Ballarin, J, Mani, L-Y, Vogt, B, Ozturk, S, Yildiz, A, Seyahi, N, Arikan, H, Koc, M, Basturk, T, Karahan, G, Akgul, S U, Sever, M S, Zhang, D, Hamilton, P, Kleta, R & Brenchley, P 2020, ' The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis ', Nature Communications, vol. 11, no. 1, pp. 1600 . https://doi.org/10.1038/s41467-020-15383-w
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Xie, Jingyuan; Liu, Lili; Mladkova, Nikol; Li, Yifu; Ren, Hong; Wang, Weiming; Cui, Zhao; Lin, Li; Hu, Xiaofan; Yu, Xialian; Xu, Jing; Liu, Gang; Caliskan, Yasar; Sidore, Carlo; Balderes, Olivia; Rosen, Raphael; Bodria, Monica; Zanoni, Francesca; Zhang, Yun; Krithivasan, Priya; ... (2020). The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis. Nature communications, 11(1), p. 1600. Nature Publishing Group 10.1038/s41467-020-15383-w
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Nature Communications, 11
Nature Communications, 11, 1
Xie, J, Liu, L, Mladkova, N, Li, Y, Ren, H, Wang, W, Cui, Z, Hu, X, Yu, X, Liu, G, Caliskan, Y, Sidore, C, Balderes, O, Rosen, R J, Bodria, M, Zanoni, F, Krithivasan, P, Mehl, K, Marasa, M, Khan, A, Ozay, F, Canetta, P A, Bomback, A S, Appel, G B, Sanna-Cherchi, S, Sampson, M G, Mariani, L H, Perkowska-Ptasinska, A, Durlik, M, Mucha, K, Moszczuk, B, Foroncewicz, B, Pączek, L, Habura, I, Ars, E, Ballarin, J, Mani, L-Y, Vogt, B, Ozturk, S, Yildiz, A, Seyahi, N, Arikan, H, Koc, M, Basturk, T, Karahan, G, Akgul, S U, Sever, M S, Zhang, D, Hamilton, P, Kleta, R & Brenchley, P 2020, ' The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis ', Nature Communications, vol. 11, no. 1, pp. 1600 . https://doi.org/10.1038/s41467-020-15383-w
Vogt, Bruno/0000-0002-1548-6387; Dufek, Stephanie/0000-0002-6323-6673; Liu, Lili/0000-0002-2622-9669; Paczek, Leszek/0000-0003-0160-3009; Cui, Zhao/0000-0002-5837-1926; amoroso, antonio/0000-0002-9437-9407; Rosen, Raphael/0000-0003-1025-1965; Loos, R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2891f6f81e786be552d26cf13e755862
https://hdl.handle.net/11424/243224
https://hdl.handle.net/11424/243224
Autor:
González-Serna, David, Ochoa, Eguzkine, López-Isac, Elena, Julià, Antonio, Degenhardt, Frauke, Ortego-Centeno, Norberto, Radstake, Timothy R.D.J., Franke, Andre, Marsal, Sara, Mayes, Maureen D., Martín, Javier, Márquez, Ana, Assassi, Shervin, Zhou, Xiaodong, Tan, Filemon K., Arnett, Frank C., Reveille, John D., Gorlova, Olga, Chen, Wei V., Ying, Jun, Gregersen, Peter K., Lee, Annette T., Voskuyl, Alexandre E., de Vries-Bouwstra, Jeska, Magro-Checa, Cesar, Broen, Jasper, Koeleman, Bobby P.C., Simeón, Carmen P., Fonollosa, Vicente, Guillén, Alfredo, Carreira, Patricia, Castellví, Iván, González-Gay, Miguel A., Ríos, Raquel, Callejas-Rubio, Jose Luis, Vargas-Hitos, José A., García-Portales, Rosa, Camps, María Teresa, Fernández-Nebro, Antonio, González-Escribano, María F., García-Hernández, Francisco José, Castillo, Ma Jesús, Aguirre, Ma Ángeles, Gómez-Gracia, Inmaculada, Rodríguez-Rodríguez, Luis, Fernández-Gutiérrez, Benjamín, de la Peña, Paloma García, Vicente, Esther, Andreu, José Luis, Fernández de Castro, Mónica, López-Longo, Francisco Javier, Martínez, Lina, Espinosa, Gerard, Tolosa, Carlos, Pros, Anna, Rodríguez-Carballeira, Mónica, Narváez, Francisco Javier, Rubio-Rivas, Manel, Ortiz-Santamaría, Vera, Madroñero, Ana Belén, Díaz, Bernardino, Trapiella, Luis, Sousa, Adrián, Egurbide, María Victoria, Fanlo-Mateo, Patricia, Sáez-Comet, Luis, Díaz-González, Federico, Hernández, Vanesa, Beltrán, Emma, Román-Ivorra, José Andrés, Grau, Elena, Alegre-Sancho, Juan José, Blanco-García, Francisco J., Oreiro, Natividad, Freire, Mayka, Balsa, Alejandro, Ortiz, Ana M., Hunzelmann, Nicolas, Riemekasten, Gabriela, Distler, Jörg H.W., Witte, Torsten, Airó, Paolo, Beretta, Lorenzo, Santaniello, Alessandro, Bellocchi, Chiara, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando
Publikováno v:
Scientific Reports, 10(1):1862. Nature Publishing Group
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
González-Serna, D, Ochoa, E, López-Isac, E, Julià, A, Degenhardt, F, Ortego-Centeno, N, Radstake, T R D J, Franke, A, Marsal, S, Mayes, M D, Martín, J, Márquez, A, Assassi, S, Zhou, X, Tan, F K, Arnett, F C, Reveille, J D, Gorlova, O, Chen, W V, Ying, J, Gregersen, P K, Lee, A T, Voskuyl, A E, de Vries-Bouwstra, J, Magro-Checa, C, Broen, J, Koeleman, B P C, Simeón, C P, Fonollosa, V, Guillén, A, Carreira, P, Castellví, I, González-Gay, M A, Ríos, R, Callejas-Rubio, J L, Vargas-Hitos, J A, García-Portales, R, Camps, M T, Fernández-Nebro, A, González-Escribano, M F, García-Hernández, F J, Castillo, M J, Aguirre, M Á, Gómez-Gracia, I, Rodríguez-Rodríguez, L, Fernández-Gutiérrez, B, de la Peña, P G, Vicente, E, Andreu, J L, Fernández de Castro, M, López-Longo, F J, Martínez, L, Espinosa, G, Tolosa, C, Pros, A, Rodríguez-Carballeira, M, Narváez, F J, Rubio-Rivas, M, Ortiz-Santamaría, V, Madroñero, A B, Díaz, B, Trapiella, L, Sousa, A, Egurbide, M V, Fanlo-Mateo, P, Sáez-Comet, L, Díaz-González, F, Hernández, V, Beltrán, E, Román-Ivorra, J A, Grau, E, Alegre-Sancho, J J, Blanco-García, F J, Oreiro, N, Freire, M, Balsa, A, Ortiz, A M, Hunzelmann, N, Riemekasten, G, Distler, J H W, Witte, T, Airó, P, Beretta, L, Santaniello, A, Bellocchi, C, Lunardi, C, Moroncini, G, Gabrielli, A & Scleroderma Genetic Consortium 2020, ' A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease ', Scientific Reports, vol. 10, no. 1, 1862 . https://doi.org/10.1038/s41598-020-58741-w
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digibug. Repositorio Institucional de la Universidad de Granada
Scientific Reports
Scientific Reports (2020) 10:1862
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
González-Serna, D, Ochoa, E, López-Isac, E, Julià, A, Degenhardt, F, Ortego-Centeno, N, Radstake, T R D J, Franke, A, Marsal, S, Mayes, M D, Martín, J, Márquez, A, Assassi, S, Zhou, X, Tan, F K, Arnett, F C, Reveille, J D, Gorlova, O, Chen, W V, Ying, J, Gregersen, P K, Lee, A T, Voskuyl, A E, de Vries-Bouwstra, J, Magro-Checa, C, Broen, J, Koeleman, B P C, Simeón, C P, Fonollosa, V, Guillén, A, Carreira, P, Castellví, I, González-Gay, M A, Ríos, R, Callejas-Rubio, J L, Vargas-Hitos, J A, García-Portales, R, Camps, M T, Fernández-Nebro, A, González-Escribano, M F, García-Hernández, F J, Castillo, M J, Aguirre, M Á, Gómez-Gracia, I, Rodríguez-Rodríguez, L, Fernández-Gutiérrez, B, de la Peña, P G, Vicente, E, Andreu, J L, Fernández de Castro, M, López-Longo, F J, Martínez, L, Espinosa, G, Tolosa, C, Pros, A, Rodríguez-Carballeira, M, Narváez, F J, Rubio-Rivas, M, Ortiz-Santamaría, V, Madroñero, A B, Díaz, B, Trapiella, L, Sousa, A, Egurbide, M V, Fanlo-Mateo, P, Sáez-Comet, L, Díaz-González, F, Hernández, V, Beltrán, E, Román-Ivorra, J A, Grau, E, Alegre-Sancho, J J, Blanco-García, F J, Oreiro, N, Freire, M, Balsa, A, Ortiz, A M, Hunzelmann, N, Riemekasten, G, Distler, J H W, Witte, T, Airó, P, Beretta, L, Santaniello, A, Bellocchi, C, Lunardi, C, Moroncini, G, Gabrielli, A & Scleroderma Genetic Consortium 2020, ' A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease ', Scientific Reports, vol. 10, no. 1, 1862 . https://doi.org/10.1038/s41598-020-58741-w
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digibug. Repositorio Institucional de la Universidad de Granada
Scientific Reports
Scientific Reports (2020) 10:1862
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
We thank Sofia Vargas and Gema Robledo for her excellent technical assistance and all the patients and control donors for their essential collaboration. We thank WTCCC (Welcome Trust Case Control Consortium) for the access to GWAS data of Crohn’s d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d69d378d77c8af11b3972155f91244c
http://hdl.handle.net/10261/222176
http://hdl.handle.net/10261/222176
Autor:
Chao-Qun Wang, Chih-Hsin Tang, Yan Wang, Guinv Hu, Xiaoni Li, Bifei Huang, Chen-Ming Su, Qian Wang, Yongming Zhao, Lulu Jin
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Scientific Reports
Scientific Reports
Breast cancer is a major cause of cancer mortality worldwide. Fascin-1 (FSCN1) is an actin-binding protein found in mammalian cells, including endothelial, neuronal and mesenchymal cells. FSCN1 overexpression has been indicated in breast cancer patie
Publikováno v:
Scientific Reports
Rheumatoid arthritis (RA) is a common, chronic autoimmune disease affecting 0.5–1.0% of adults worldwide, including approximately 4.5–5.0 million patients in China. The genetic etiology and pathogenesis of RA have not yet been fully elucidated. R
Publikováno v:
Scientific Reports
Ten novel loci have been found to be associated with systemic lupus erythematosus (SLE) susceptibility by a recent genome-wide association study conducted in Europeans. To test their disease associations and genetic similarities/differences in Asians
Autor:
Wuraola A. Shokunbi, Belco Poudiougou, Delmiro Fernandez-Reyes, Abdoualye Traore, Florence Burté, AA Oumar, Charlène Couturier, SI Omokhodion, Alain Dessein, Biobele J. Brown, Sandrine Marquet, Olugbemiro Sodeinde, Laurent Argiro, Hélia Dessein, Nathaniel K. Afolabi, Abdoulaye Oury Barry, Ianina Conte, Ogobara K. Doumbo
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2017, 7, pp.41636. ⟨10.1038/srep41636⟩
Scientific Reports, 2017, 7, pp.41636. ⟨10.1038/srep41636⟩
Scientific Reports, Nature Publishing Group, 2017, 7, pp.41636. ⟨10.1038/srep41636⟩
Scientific Reports, 2017, 7, pp.41636. ⟨10.1038/srep41636⟩
Cerebral malaria (CM) is a severe complication of Plasmodium falciparum infection. This encephalopathy is characterized by coma and is thought to result from mechanical microvessel obstruction and an excessive activation of immune cells leading to pa
Autor:
Yunhai Li, Liangliang Li, Guosheng Ren, Hongtao Tie, Jing Huang, Jiazheng Sun, Ping Chen, Hongzhong Li
Publikováno v:
Scientific Reports
Growing evidence from recent studies has demonstrated an association between inflammatory bowel disease (IBD) susceptibility and two polymorphisms of DLG5 R30Q (rs1248696) and P1371Q (rs2289310), but the results remain controversial. We conducted a m
Publikováno v:
Scientific Reports
Scientific Reports, 6 . p. 32583.
Scientific Reports, 6 . p. 32583.
Among the genetic factors known to increase the risk of late onset Alzheimer’s diseases (AD), the presence of the apolipoproteine e4 (APOE4) allele has been recognized as the one with the strongest effect. However, despite decades of research, the
Autor:
James F. Wilson, Vincenzo Sorrentino, Zoltán Kutalik, Robert W. Williams, Maria Litovchenko, Peter K. Joshi, Sina Rüeger, Aaron McDaid, Marc Robinson-Rechavi, Johan Auwerx, Eleonora Porcu, Roel P. J. Bevers, Murielle Bochud, Bart Deplancke, Valentin Rousson, Hao Li, Alexandre Reymond, Fred Paccaud, Andrea Komljenovic
Publikováno v:
McDaid, A F, Joshi, P, Porcu, E, Komljenovic, A, Li, H, Sorrentino, V, Litovchenko, M, Bevers, R, Rüeger, S, Reymond, A, Bochud, M, Deplancke, B, Williams, R, Robinson-Rechavi, M, Paccaud, F, Rousson, V, Auwerx, J, Wilson, J & Kutalik, Z 2017, ' Bayesian association scan reveals loci associated with human lifespan and linked biomarkers ', Nature Communications . https://doi.org/10.1038/ncomms15842
Nature communications, vol. 8, pp. 15842
Nature Communications
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Nature communications, vol. 8, pp. 15842
Nature Communications
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
The enormous variation in human lifespan is in part due to a myriad of sequence variants, only a few of which have been revealed to date. Since many life-shortening events are related to diseases, we developed a Mendelian randomization-based method c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8e53f55d74a8dc78d3fd5f733768eb4
https://infoscience.epfl.ch/record/230625
https://infoscience.epfl.ch/record/230625