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Narcolepsy-Associated HLA Class I Alleles Implicate Cell-Mediated Cytotoxicity

Tafti, Mehdi ; Lammers, Gert J. ; Dauvilliers, Yves ; Overeem, Sebastiaan ; Mayer, Geert ; Nowak, Jacek ; Pfister, Corinne ; Dubois, Valérie ; Eliaou, Jean-François ; Eberhard, Hans-Peter ; Liblau, Roland ; Wierzbicka, Aleksandra ; Geisler, Peter ; Bassetti, Claudio L. ; Mathis, Johannes ; Lecendreux, Michel ; Khatami, Ramin ; Heinzer, Raphaël ; Haba-Rubio, José ; Feketeova, Eva ; Baumann, Christian R. ; Kutalik, Zoltán ; Tiercy, Jean-Marie

In: Sleep, 2016, vol. 39, no. 3, p. 581-587

Embodied neurology: an integrative framework for neurological disorders

Freund, Patrick ; Friston, Karl ; Thompson, Alan J. ; Stephan, Klaas E. ; Ashburner, John ; Bach, Dominik R. ; Nagy, Zoltan ; Helms, Gunther ; Draganski, Bogdan ; Mohammadi, Siawoosh ; Schwab, Martin E. ; Curt, Armin ; Weiskopf, Nikolaus

In: Brain, 2016, vol. 139, no. 6, p. 1855-1861

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Huemer, Martina ; Karall, Daniela ; Schossig, Anna ; Abdenur, Jose ; Al Jasmi, Fatma ; Biagosch, Caroline ; Distelmaier, Felix ; Freisinger, Peter ; Graham, Brett ; Haack, Tobias ; Hauser, Natalie ; Hertecant, Jozef ; Ebrahimi-Fakhari, Darius ; Konstantopoulou, Vassiliki ; Leydiker, Karen ; Lourenco, Charles ; Scholl-Bürgi, Sabine ; Wilichowski, Ekkehard ; Wolf, Nicole ; Wortmann, Saskia ; Taylor, Robert ; Mayr, Johannes ; Bonnen, Penelope ; Sperl, Wolfgang ; Prokisch, Holger ; McFarland, Robert

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 905-914

Embodiment and Schizophrenia: A Review of Implications and Applications

Tschacher, Wolfgang ; Giersch, Anne ; Friston, Karl

In: Schizophrenia Bulletin, 2017, vol. 43, no. 4, p. 745-753

Biological and clinical implications of BIRC3 mutations in chronic lymphocytic leukemia

Diop, Fary ; Moia, Riccardo ; Favini, Chiara ; Spaccarotella, Elisa ; De Paoli, Lorenzo ; Bruscaggin, Alessio ; Spina, Valeria ; Terzi-di-Bergamo, Lodovico ; Arruga, Francesca ; Tarantelli, Chiara ; Deambrogi, Clara ; Rasi, Silvia ; Adhinaveni, Ramesh ; Patriarca, Andrea ; Favini, Simone ; Sagiraju, Sruthi ; Jabangwe, Clive ; Kodipad, Ahad A. ; Peroni, Denise ; Mauro, Francesca R. ; Del Giudice, Ilaria ; Forconi, Francesco ; Cortelezzi, Agostino ; Zaja, Francesco ; Bomben, Riccardo ; Rossi, Francesca Maria ; Visco, Carlo ; Chiarenza, Annalisa ; Rigolin, Gian Matteo ; Marasca, Roberto ; Coscia, Marta ; Perbellini, Omar ; Tedeschi, Alessandra ; Laurenti, Luca ; Motta, Marina ; Donaldson, David ; Weir, Phil ; Mills, Ken ; Thornton, Patrick ; Lawless, Sarah ; Bertoni, Francesco ; Del Poeta, Giovanni ; Cuneo, Antonio ; Follenzi, Antonia ; Gattei, Valter ; Boldorini, Renzo Luciano ; Catherwood, Mark ; Deaglio, Silvia ; Foà, Robin ; Gaidano, Gianluca ; Rossi, Davide

In: Haematologica, 2020, vol. 105, no. 2, p. 448-456

BIRC3 is a recurrently mutated gene in chronic lymphocytic leukemia (CLL) but the functional implications of BIRC3 mutations are largely unexplored. Furthermore, little is known about the prognostic impact of BIRC3 mutations in CLL cohorts homogeneously treated with first-line fludarabine, cyclophosphamide, and rituximab (FCR). By immunoblotting analysis, we showed that the non-canonical...

A LAIR-1 insertion creates broadly reactive antibodies against malaria variant antigens

Tan, Joshua ; Pieper, Kathrin ; Piccoli, Luca ; Abdi, Abdirahman ; Tully, Claire Maria ; Foglierini Perez, Mathilde ; Geiger, Roger ; Jarrossay, David ; Maina Ndungu, Francis ; Wambua, Juliana ; Bejon, Philip ; Silacci Fregni, Chiara : Institute for Research in Biomedicine (IRB), Faculty of Biomedical Sciences, Università della Svizzera italiana, Switzerland ; Fernandez-Rodriguez, Blanca ; Barbieri, Sonia ; Bianchi, Siro ; Marsh, Kevin ; Thathy, Vandana ; Corti, Davide ; Sallusto, Federica ; Bull, Peter ; Lanzavecchia, Antonio

In: Nature, 2016, vol. 529, p. 25 p

Plasmodium falciparum antigens expressed on the surface of infected erythrocytes are important targets of naturally acquired immunity against malaria, but their high number and variability provide the pathogen with a powerful means of escape from host antibodies1,2,3,4. Although broadly reactive antibodies against these antigens could be useful as therapeutics and in vaccine design, their...

Identification of a novel non-desmoglein autoantigen in Pemphigus Vulgaris

Di Lullo, Giulia ; Calabresi, Valentina ; Mariotti, Feliciana ; Zambruno, Giovanna ; Lanzavecchia, Antonio ; Di Zenzo, Giovanni

In: Frontiers in immunology, 2019, vol. 10, p. 1391

Pemphigus vulgaris (PV) is an autoimmune bullous disease of the skin and mucous membranes characterized by the presence of circulating and tissue-bound autoantibodies against keratinocyte cell surface antigens, specifically desmoglein (Dsg) 1 and 3. The pathogenic role of anti-Dsg antibodies is well-established, while the mechanism of blister formation is only partly defined. We have applied...

Pemphigus autoantibodies generated through somatic mutations target the desmoglein-3 cis-interface

Di Zenzo, Giovanni ; Di Lullo, Giulia ; Corti, Davide ; Calabresi, Valentina ; Sinistro, Anna ; Vanzetta, Fabrizia ; Didona, Biagio ; Cianchini, Giuseppe ; Hertl, Michael ; Eming, Rudiger ; Amagai, Masayuki ; Ohyama, Bungo ; Hashimoto, Takashi ; Sloostra, Jerry ; Sallusto, Federica ; Zambruno, Giovanna ; Lanzavecchia, Antonio

In: The journal of clinical investigation, 2012, vol. 122, no. 10, p. 3781-3790

Pemphigus vulgaris (PV) is an autoimmune blistering disease of skin and mucous membranes caused by autoantibodies to the desmoglein (DSG) family proteins DSG3 and DSG1, leading to loss of keratinocyte cell adhesion. To learn more about pathogenic PV autoantibodies, we isolated 15 IgG antibodies specific for DSG3 from 2 PV patients. Three antibodies disrupted keratinocyte monolayers in vitro,...

Analysis of blood and lymph vascularization patterns in tissue-engineered human dermo-epidermal skin analogs of different pigmentation

Klar, Agnieszka ; Böttcher-Haberzeth, Sophie ; Biedermann, Thomas ; Schiestl, Clemens ; Reichmann, Ernst ; Meuli, Martin

In: Pediatric Surgery International, 2014, vol. 30, no. 2, p. 223-231

Experimental tissue engineering of fetal skin

Mazzone, L. ; Pontiggia, L. ; Reichmann, E. ; Ochsenbein-Kölble, N. ; Moehrlen, U. ; Meuli, M.

In: Pediatric Surgery International, 2014, vol. 30, no. 12, p. 1241-1247