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Kiryluk, Krzysztof; Sanchez-Rodriguez, Elena; Zhou, Xu-Jie; Zanoni, Francesca; Liu, Lili; Mladkova, Nikol; Khan, Atlas; Marasa, Maddalena; Zhang, Jun Y; Balderes, Olivia; Sanna-Cherchi, Simone; Bomback, Andrew S; Canetta, Pietro A; Appel, Gerald B; Radhakrishnan, Jai; Trimarchi, Hernan; Sprangers, Ben; Cattran, Daniel C; Reich, Heather; Pei, York; ... (2023). Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Nature genetics, 55(7), pp. 1091-1105. Springer Nature 10.1038/s41588-023-01422-x
Gómez-Fernández, Paloma; Lopez de Lapuente Portilla, Aitzkoa; Astobiza, Ianire; Mena, Jorge; Urtasun, Andoni; Altmann, Vivian; Matesanz, Fuencisla; Otaegui, David; Urcelay, Elena; Antigüedad, Alfredo; Malhotra, Sunny; Montalban, Xavier; Castillo-Triviño, Tamara; Espino-Paisán, Laura; Aktas, Orhan; Buttmann, Mathias; Chan, Andrew; Fontaine, Bertrand; Gourraud, Pierre-Antoine; Hecker, Michael; ... (2020). The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis. Cells, 9(1) MDPI 10.3390/cells9010175
Sadovnick, A Dessa; Traboulsee, Anthony L; Bernales, Cecily Q; Ross, Jay P; Forwell, Amanda L; Yee, Irene M; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, Maria; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Dubois, Bénédicte; Goris, An; Astobiza, Ianire; Alloza, Iraide; Antigüedad, Alfredo; Vandenbroeck, Koen; ... (2016). Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients. G3 Genes Genomes Genetics, 6(7), pp. 2073-2079. Genetics Society of America 10.1534/g3.116.030841
Faraco, Juliette; Lin, Ling; Kornum, Birgitte Rahbek; Kenny, Eimear E; Trynka, Gosia; Einen, Mali; Rico, Tom J; Lichtner, Peter; Dauvilliers, Yves; Arnulf, Isabelle; Lecendreux, Michel; Javidi, Sirous; Geisler, Peter; Mayer, Geert; Pizza, Fabio; Poli, Francesca; Plazzi, Giuseppe; Overeem, Sebastiaan; Lammers, Gert Jan; Kemlink, David; ... (2013). ImmunoChip study implicates antigen presentation to T cells in narcolepsy. PLoS genetics, 9(2), e1003270. San Francisco, Calif.: Public Library of Science 10.1371/journal.pgen.1003270
Bangratz, Marie; Sarrazin, Nadège; Devaux, Jérôme; Zambroni, Désirée; Echaniz-Laguna, Andoni; René, Frédérique; Boërio, Delphine; Davoine, Claire-Sophie; Fontaine, Bertrand; Feltri, Maria Laura; Benoit, Evelyne; Nicole, Sophie (2012). A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking. American journal of pathology, 180(5), pp. 2040-55. New York, N.Y.: Elsevier 10.1016/j.ajpatb.2012.01.035
