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arXiv 2017年

作者： Billeh, Yazan N. Schaub, Michael T. Computation and Neural Systems Program California Institute of Technology Université Catholique de Louvain Massachusetts Institute of Technology Institute for Data Systems and Society Massachusetts Institute of Technology Department of Engineering Science University of Oxford

Directed information transmission is paramount for many social, physical, and biological sys- tems. For neural systems, scientists have studied this problem under the paradigm of feedforward networks for decades. In most models of feedforward networks, activity is exclusively driven by excitatory neurons and the wiring patterns between them, while inhibitory neu- rons play only a stabilizing role for the network dy- namics. Motivated by recent experimental discoveries of hippocampal circuitry, cortical circuitry, and the di- versity of inhibitory neurons throughout the brain, here we illustrate that one can construct such networks even if the connectivity between the excitatory units in the system remains random. This is achieved by endowing inhibitory nodes with a more active role in the network. Our findings demonstrate that apparent feedforward activity can be caused by a much broader network- architectural basis than often assumed. Copyright © 2017, The Authors. All rights reserved.

关键词： Brain

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Correction: Clinical and laboratory features associated with macrophage activation syndrome in Still's disease: data from the international AIDA Network Still's Disease Registry

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Internal and emergency medicine 2024年第1期19卷 255-257页

作者： Paola Triggianese Antonio Vitale Giuseppe Lopalco Henrique Ayres Mayrink Giardini Francesco Ciccia Ibrahim Al-Maghlouth Piero Ruscitti Petros Paul Sfikakis Florenzo Iannone Isabele Parente de Brito Antonelli Martina Patrone Kazi Nur Asfina Ilenia Di Cola Katerina Laskari Carla Gaggiano Abdurrahman Tufan Paolo Sfriso Lorenzo Dagna Roberto Giacomelli Andrea Hinojosa-Azaola Gaafar Ragab Lampros Fotis Haner Direskeneli Veronica Spedicato Marilia Ambiel Dagostin Daniela Iacono Hebatallah Hamed Ali Paola Cipriani Jurgen Sota Riza Can Kardas Sara Bindoli Corrado Campochiaro Luca Navarini Stefano Gentileschi Eduardo Martín-Nares Jiram Torres-Ruiz Moustafa Ali Saad Katerina Kourtesi Fatma Alibaz-Oner Gizem Sevik Annamaria Iagnocco Joanna Makowska Marcello Govoni Sara Monti Maria Cristina Maggio Francesco La Torre Emanuela Del Giudice José Hernández-Rodríguez Elena Bartoloni Giacomo Emmi Maria Sole Chimenti Armin Maier Gabriele Simonini Giovanni Conti Alma Nunzia Olivieri Maria Tarsia Amato De Paulis Alberto Lo Gullo Ewa Więsik-Szewczyk Ombretta Viapiana Benson Ogunjimi Samar Tharwat Sukran Erten Rossana Nuzzolese Anastasios Karamanakos Micol Frassi Alessandro Conforti Valeria Caggiano Achille Marino Gian Domenico Sebastiani Antonio Gidaro Enrico Tombetti Francesco Carubbi Giovanni Rubegni Alessandra Cartocci Alberto Balistreri Claudia Fabiani Bruno Frediani Luca Cantarini Rheumatology Allergology and Clinical Immunology Department of Systems Medicine University of Rome Tor Vergata Rome Italy. University of Rome Tor Vergata Rome Italy. Department of Medical Sciences Surgery and Neurosciences Research Center of Systemic Autoinflammatory Diseases Behçet's Disease Clinic and Rheumatology-Ophthalmology Collaborative Uveitis Center University of Siena Siena Italy. vitale.reumatologia@***. UOC Reumatologia Azienda Ospedaliero-Universitaria Senese ERN-RITA Center Siena Italy. vitale.reumatologia@***. Policlinico "Le Scotte" Viale Bracci 1 53100 Siena Italy. vitale.reumatologia@***. Rheumatology Unit Department of Emergency and Organ Transplantation University of Bari Bari Italy. Rheumatology Division Faculdade de Medicina Hospital das Clínicas Universidade de São Paulo São Paulo Brazil. Department of Precision Medicine Università Degli Studi Della Campania Luigi Vanvitelli Naples Italy. Rheumatology Unit Department of Medicine College of Medicine King Saud University Riyadh Saudi Arabia. College of Medicine Research Center College of Medicine King Saud University Riyadh Saudi Arabia. Rheumatology Unit Department of Biotechnological and Applied Clinical Sciences University of L'Aquila L'Aquila Italy. Joint Academic Rheumatology Program National and Kapodistrian University of Athens Medical School Athens Greece. Department of Medical Sciences Surgery and Neurosciences Research Center of Systemic Autoinflammatory Diseases Behçet's Disease Clinic and Rheumatology-Ophthalmology Collaborative Uveitis Center University of Siena Siena Italy. UOC Reumatologia Azienda Ospedaliero-Universitaria Senese ERN-RITA Center Siena Italy. Division of Rheumatology Department of Internal Medicine Gazi University Faculty of Medicine Ankara Turkey. Rheumatology Unit Department of Medicine (DIMED) University of Padova Padua Italy. Unit of Immunology Rheumatology Allergy and Rare Diseases IRCCS San Raffaele Hospital Milan Italy. Vita-Salute Sa

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

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npj Genomic Medicine 2024年第1期9卷 49页

作者： Demidov, German Yaldiz, Burcu Garcia-Pelaez, José de Boer, Elke Schuermans, Nika Van de Vondel, Liedewei Paramonov, Ida Johansson, Lennart F. Musacchia, Francesco Benetti, Elisa Bullich, Gemma Sablauskas, Karolis Beltran, Sergi Gilissen, Christian Hoischen, Alexander Ossowski, Stephan de Voer, Richarda Lohmann, Katja Oliveira, Carla Topf, Ana Vissers, Lisenka E. L. M. Zguro, Kristina Zara, Federico Zaganas, Ioannis Yépez, Vicente A. Wirth, Brunhilde Webb, David Verdin, Hannah Van Nieuwenhove, Erika van Montfrans, Joris van Heurck, Roxane van der Veken, Lars Valle, Laura Uva, Paolo Udd, Bjarne Trimouille, Aurelien Thompson, Rachel Tartaglia, Marco Sznajer, Yves Striano, Pasquale Steinke-Lange, Verena Spilioti, Martha Scudieri, Paolo Schröck, Evelin Schon, Katherine Scala, Marcello Savarese, Marco Santen, Gijs W. E. Rump, Andreas Ruivenkamp, Claudia A. L. Roos, Andreas Rooryck, Caroline Riva, Antonella Renieri, Alessandra Ratnaike, Thiloka Radio, Francesca Clementina Privitera, Flavia De la Paz, Manuel Posada Poppe, Bruce Polavarapu, Kiran Platzer, Konrad Peterlin, Borut Pérez-Dueñas, Belén Pauly, Martje Parrini, Elena Olimpio, Catarina Reghan, Mary O. de Benito, Daniel Natera Osorio, Andrés Nascimento Munell, Francina Münchau, Alexander Moortgat, Stéphanie Monestier, Olivier Molnar, Maria Judit Meunier, Colombine Mertes, Christian Mei, Davide Maystadt, Isabelle May, Patrick Maver, Ales Mathioudakis, Lambros Masclaux, Frédéric Mary, Sandrine Delgado, Beatriz Martínez Marcé-Grau, Anna Malaichamy, Sivasankar Macaya, Alfons Luknárová, Rebeka Martín, Estrella López Lochmüller, Hanns Leitão, Elsa Lederer, Damien Leavis, Helen Laner, Andreas Lacombe, Didier Krass, Leon Korff, Christian Kokosali, Evgenia Karakaya, Mert Karadurmus, Deniz Kapaki, Elisabeth Johari, Mridul Iacomino, Michele Huibers, Manon Horvath, Rita Holinski-Feder, Elke Hoffer, Mariette J. V. Herzog, Rebecca Hemelsoet, Dimitri Bouveret, Eva Hammar Haimel, Matthias Hackman, Peter Guerrini, Renzo Grimbacher, Bodo Greally, Marie Ghani, Hamidah Gagneur, Julien Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany Institute for Bioinformatics and Medical Informatics (IBMI) University of Tübingen Tübingen Germany Department of Human Genetics Radboud University Medical Center Nijmegen Netherlands Department of Clinical Genetics Maastricht University Medical Center Maastricht Netherlands i3S - Instituto de Investigação e Inovação em Saúde Rua Alfredo Allen 208 Porto 4200-135 Portugal IPATIMUP - Institute of Molecular Pathology and Immunology University of Porto Porto Portugal Faculty of Medicine University of Porto Porto Portugal Donders Institute for Brain Cognition and Behaviour Radboud University Nijmegen Netherlands Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam Netherlands Center for Medical Genetics Ghent University Hospital Ghent Belgium Translational Neurosciences Faculty of Medicine and Health Sciences University of Antwerp Antwerp Belgium Laboratory of Neuromuscular Pathology Institute Born-Bunge University of Antwerp Antwerp Belgium Centro Nacional de Análisis Genómico (CNAG) C/Baldiri Reixac 4 Barcelona 08028 Spain Universitat de Barcelona (UB) Barcelona Spain University of Groningen University Medical Center Groningen Department of Genetics Groningen Netherlands Center for Human Technologies Italian Institute of Technology (IIT) Genova Italy Telethon Institute for Genetics and Medicine Pozzuoli (Napoli) 80078 Italy Department of Medical Biotechnologies Med Biotech Hub and Competence Center University of Siena Siena 53100 Italy Institute of Data Science and Digital Technologies Vilnius University Vilnius Lithuania Departament de Genètica Microbiologia i Estadística Facultat de Biologia Universitat de Barcelona (UB) Barcelona Spain Radboud Institute for Molecular Life Sciences Nijmegen Netherlands Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI) Radboud University Medical Center Nijmegen N

We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research groups across Europe partnering in the Solve-RD project. Each research group had previously undertaken their own analysis of the data but failed to identify disease-causing variants. We applied three CNV calling algorithms to maximise sensitivity, and rare CNVs overlapping genes of interest, provided by four partner European Reference Networks, were taken forward for interpretation by clinical experts. This reanalysis has resulted in a molecular diagnosis being provided to 51 families in this sample, with ClinCNV performing the best of the three algorithms. We also identified partially explanatory pathogenic CNVs in a further 34 individuals. This work illustrates the value of reanalysing ES cold cases for CNVs. © The Author(s) 2024.

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26th Annual computational Neuroscience Meeting (CNS*2017): Part 3 Antwerp, Belgium. 15-20 July 2017 Abstracts

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BMC NEUROscience 2017年第SUPPL 1期18卷 95-176页

作者： [Anonymous] Department of Neuroscience Yale University New Haven CT 06520 USA Department Physiology & Pharmacology SUNY Downstate Brooklyn NY 11203 USA NYU School of Engineering 6 MetroTech Center Brooklyn NY 11201 USA Departament de Matemàtica Aplicada Universitat Politècnica de Catalunya Barcelona 08028 Spain Institut de Neurobiologie de la Méditerrannée (INMED) INSERM UMR901 Aix-Marseille Univ Marseille France Center of Neural Science New York University New York NY USA Aix-Marseille Univ INSERM INS Inst Neurosci Syst Marseille France Laboratoire de Physique Théorique et Modélisation CNRS UMR 8089 Université de Cergy-Pontoise 95300 Cergy-Pontoise Cedex France Department of Mathematics and Computer Science ENSAT Abdelmalek Essaadi’s University Tangier Morocco Laboratory of Natural Computation Department of Information and Electrical Engineering and Applied Mathematics University of Salerno 84084 Fisciano SA Italy Department of Medicine University of Salerno 84083 Lancusi SA Italy Dipartimento di Fisica Università degli Studi Aldo Moro Bari and INFN Sezione Di Bari Italy Data Analysis Department Ghent University Ghent Belgium Coma Science Group University of Liège Liège Belgium Cruces Hospital and Ikerbasque Research Center Bilbao Spain BIOtech Department of Industrial Engineering University of Trento and IRCS-PAT FBK 38010 Trento Italy Department of Data Analysis Ghent University Ghent 9000 Belgium The Wellcome Trust Centre for Neuroimaging University College London London WC1N 3BG UK Department of Electronic Engineering NED University of Engineering and Technology Karachi Pakistan Blue Brain Project École Polytechnique Fédérale de Lausanne Lausanne Switzerland Departement of Mathematics Swansea University Swansea Wales UK Laboratory for Topology and Neuroscience at the Brain Mind Institute École polytechnique fédérale de Lausanne Lausanne Switzerland Institute of Mathematics University of Aberdeen Aberdeen Scotland UK Department of Integrativ

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