Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Autor: Hanna M. Ollila, Eilon Sharon, Ling Lin, Nasa Sinnott-Armstrong, Aditya Ambati, Selina M. Yogeshwar, Ryan P. Hillary, Otto Jolanki, Juliette Faraco, Mali Einen, Guo Luo, Jing Zhang, Fang Han, Han Yan, Xiao Song Dong, Jing Li, Jun Zhang, Seung-Chul Hong, Tae Won Kim, Yves Dauvilliers, Lucie Barateau, Gert Jan Lammers, Rolf Fronczek, Geert Mayer, Joan Santamaria, Isabelle Arnulf, Stine Knudsen-Heier, May Kristin Lyamouri Bredahl, Per Medbøe Thorsby, Giuseppe Plazzi, Fabio Pizza, Monica Moresco, Catherine Crowe, Stephen K. Van den Eeden, Michel Lecendreux, Patrice Bourgin, Takashi Kanbayashi, Francisco J. Martínez-Orozco, Rosa Peraita-Adrados, Antonio Benetó, Jacques Montplaisir, Alex Desautels, Yu-Shu Huang, FinnGen, Poul Jennum, Sona Nevsimalova, David Kemlink, Alex Iranzo, Sebastiaan Overeem, Aleksandra Wierzbicka, Peter Geisler, Karel Sonka, Makoto Honda, Birgit Högl, Ambra Stefani, Fernando Morgadinho Coelho, Vilma Mantovani, Eva Feketeova, Mia Wadelius, Niclas Eriksson, Hans Smedje, Pär Hallberg, Per Egil Hesla, David Rye, Zerrin Pelin, Luigi Ferini-Strambi, Claudio L. Bassetti, Johannes Mathis, Ramin Khatami, Adi Aran, Sheela Nampoothiri, Tomas Olsson, Ingrid Kockum, Markku Partinen, Markus Perola, Birgitte R. Kornum, Sina Rueger, Juliane Winkelmann, Taku Miyagawa, Hiromi Toyoda, Seik-Soon Khor, Mihoko Shimada, Katsushi Tokunaga, Manuel Rivas, Jonathan K. Pritchard, Neil Risch, Zoltan Kutalik, Ruth O’Hara, Joachim Hallmayer, Chun Jimmie Ye, Emmanuel J. Mignot

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

Abstract Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environ

Externí odkaz: https://doaj.org/article/5ce5735744474cff8886bce42fe536b9

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

Autor: Vilma Mantovani, Sofia Bin, Claudio Graziano, Irene Capelli, Raffaella Minardi, Valeria Aiello, Enrico Ambrosini, Carlotta Pia Cristalli, Alessandro Mattiaccio, Milena Pariali, Sara De Fanti, Flavio Faletra, Enrico Grosso, Rachele Cantone, Elena Mancini, Francesca Mencarelli, Andrea Pasini, Anita Wischmeijer, Nicola Sciascia, Marco Seri, Gaetano La Manna

Publikováno v: Frontiers in Genetics, Vol 11 (2020)

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders in humans and the majority of patients carry a variant in either PKD1 or PKD2. Genetic testing is increasingly required for diagnosis, pr

Externí odkaz: https://doaj.org/article/26a65cc630334739b480a8c4a9ee3d31

Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing

Autor: Giovanni Vitale, Martina Pirillo, Vilma Mantovani, Elena Marasco, Adelia Aquilano, Nesrine Gamal, Paola Francalanci, Fabio Conti, Pietro Andreone

Publikováno v: Annals of Hepatology, Vol 15, Iss 5, Pp 795-800 (2016)

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive cholestatic diseases of childhood and represents the main indication for liver transplantation at this age; PFIC2 involves ABCB11 gene, that encodes

Externí odkaz: https://doaj.org/article/bd0050ac86494dc792ca307944d6c264

MR Brain Screening in ADPKD Patients

Autor: Davide Gori, Luca Faccioli, Vilma Mantovani, C Bortolotti, Marco Seri, M. Pastore Trossello, G. La Manna, Irene Capelli, Nicola Sciascia, Filippo Friso, Marco Zoli, Valeria Aiello, Diego Mazzatenta, Matteo Righini, Claudio Graziano, Arianna Rustici, Luca Spinardi

Publikováno v: Clinical Neuroradiology. 32:69-78

Background Adult polycystic kidney disease (ADPKD) still represents a major cause of renal failure and intracranial aneurisms (IA) have a higher prevalence in ADPKD than in the general population. Current guidelines suggest performing brain MRI only

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2c045756a7041ebc9af431e3d6c4b3f
https://doi.org/10.1007/s00062-021-01050-0

Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells

Autor: Giulia Daniele, Giorgia Simonetti, Caterina Fusilli, Ilaria Iacobucci, Angelo Lonoce, Antonio Palazzo, Mariana Lomiento, Fabiana Mammoli, Renè Massimiliano Marsano, Elena Marasco, Vilma Mantovani, Hilmar Quentmeier, Hans G Drexler, Jie Ding, Orazio Palumbo, Massimo Carella, Niroshan Nadarajah, Margherita Perricone, Emanuela Ottaviani, Carmen Baldazzi, Nicoletta Testoni, Cristina Papayannidis, Sergio Ferrari, Tommaso Mazza, Giovanni Martinelli, Clelia Tiziana Storlazzi

Publikováno v: Haematologica, Vol 102, Iss 7 (2017)

We here describe a leukemogenic role of the homeobox gene UNCX, activated by epigenetic modifications in acute myeloid leukemia (AML). We found the ectopic activation of UNCX in a leukemia patient harboring a t(7;10)(p22;p14) translocation, in 22 of

Externí odkaz: https://doaj.org/article/4b589795cbcb495fbb0a6a6e94770407