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BT-02FUNCTIONALLY-DEFINED THERAPEUTIC TARGETS IN DIFFUSE INTRINSIC PONTINE GLIOMA

Neuro-Oncology 2015年第SUPPL_3期17卷 iii3-iii3页

作者： Grasso, Catherine S. Tang, Yujie Truffaux, Nathalene Berlow, Noah E. Liu, Lining Debily, Marie-Anne Quist, Michael J. Davis, Lara Huang, Elaine C. Woo, Pamelyn J. Ponnuswami, Anitha Chen, Spenser Johung, Tessa Sun, Wenchao Kogiso, Mari Du, Yuchen Lin, Qi Huang, Yulun Hutt-Cabezas, Marianne Warren, Katherine E. Le Dret, Ludivine Meltzer, Paul S. Mao, Hua Quezado, Martha van Vuurden, Dannis G. Abraham, Jinu Fouladi, Maryam Svalina, Matthew N. Wang, Nicholas Hawkins, Cynthia Raabe, Eric Hulleman, Esther Spellman, Paul T. Li, Xiao-Nan Keller, Charles Pal, Ranadip Grill, Jacques Monje, Michelle Center for Spatial Systems Biomedicine Department of Molecular and Medical Genetics Oregon Health & Science University Portland OR USA These authors contributed equally to this work Depts. of Neurology Neurosurgery and Pediatrics Stanford University Stanford CA USA Unité Mixte de Recherche du Centre National de la Recherche Scientifique 8203 Institut Gustave Roussy et Université Paris-Sud Villejuif France Electrical and Computer Engineering Texas Tech University Lubbock TX USA Université d'Evry-Val d'Essone Evry France Pediatric Cancer Biology Program Papé Family Pediatric Research Institute Dept. of Pediatrics Oregon Health & Science University Portland OR USA Children's Cancer Therapy Development Institute Fort Collins CO USA Laboratory of Molecular Neurooncology Texas Children's Cancer Center Baylor College of Medicine Houston TX USA Department of Neurosurgery The First Affiliated Hospital of Soochow Suzhou China Departments of Oncology and Pathology Johns Hopkins University Baltimore MD USA National Cancer Institute Bethesda MD USA Department of Pediatric Oncology Hematology and Neuro-Oncology Research Group Cancer Center Amsterdam VU University Medical Center Amsterdam The Netherlands Cancer and Blood Diseases Institute Cincinnati Children's Hospital Medical Center Cincinnati OH USA Dept. of Paediatric Laboratory Medicine University of Toronto Scientist Labatt Brain Tumour Research Centre Hospital for Sick Children University of Toronto Toronto ON Canada Departement de Cancerologie de l'Enfant et de l'Adolescent Institut Gustave Roussy Université Paris-Sud Villejuif France

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024)

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AMERICAN JOURNAL OF HUMAN GENETICS 2024年第4期11卷 805-805页

作者： Paul, Maimuna S. Michener, Sydney L. Pan, Hongling Chan, Hiuling Pfliger, Jessica M. Rosenfeld, Jill A. Lerma, Vanesa C. Tran, Alyssa Longley, Megan A. Lewis, Richard A. Weisz-Hubshman, Monika Bekheirnia, Mir Reza Bekheirnia, Nasim Massingham, Lauren Zech, Michael Wagner, Matias Engels, Hartmut Cremer, Kirsten Mangold, Elisabeth Peters, Sophia Trautmann, Jessica Perne, Claudia Mester, Jessica L. Sacoto, Maria J. Guillen Person, Richard McDonnell, Pamela P. Cohen, Stacey R. Lusk, Laina Cohen, Ana S. A. Le Pichon, Jean-Baptiste Pastinen, Tomi Zhou, Dihong Engleman, Kendra Racine, Caroline Faivre, Laurence Moutton, Sebastien Denomme-Pichon, Anne-Sophie Koh, Hyun Yong Poduri, Annapurna Bolton, Jeffrey Knopp, Cordula Suh, Dong Sun Julia Maier, Andrea Toosi, Mehran Beiraghi Karimiani, Ehsan Ghayoor Maroofian, Reza Schaefer, Gerald Bradley Ramakumaran, Vijayalakshmi Vasudevan, Pradeep Banos-Pinero, Benito Pagnamenta, Alistair T. Prasad, Chitra Osmond, Matthew Schuhmann, Sarah Vasileiou, Georgia Russ-Hall, Sophie Scheffer, Ingrid E. Carvill, Gemma L. Mefford, Heather Bacino, Carlos A. Lee, Brendan H. Chao, Hsiao-Tuan Department of Pediatrics Section of Neurology and Developmental Neuroscience Baylor College of Medicine Houston TX USA Jan and Dan Duncan Neurological Research Institute Texas Children’s Hospital Houston TX USA Cain Pediatric Neurology Research Foundation Laboratories Jan and Dan Duncan Neurological Research Institute Houston TX USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Augustana College Rock Island IL USA Summer Undergraduate Research Training (SMART) Program Baylor College of Medicine Houston TX USA Graduate Program in Electrical and Computer Engineering Rice University Houston TX USA Department of Psychology University of Houston Houston TX USA Department of Ophthalmology Baylor College of Medicine Houston TX USA Renal Genetics Clinic Baylor College of Medicine Houston TX USA Rhode Island Hospital and Hasbro Children’s Hospital Providence RI USA Institute of Neurogenomics Helmholtz Zentrum München Munich Germany Institute of Human Genetics School of Medicine Technical University Munich Germany Institute for Advanced Study Technical University of Munich Garching Germany Division of Pediatric Neurology Developmental Neurology and Social Pediatrics Dr. von Hauner Children’s Hospital Munich Germany Institute of Human Genetics School of Medicine University Hospital Bonn University of Bonn Bonn Germany GeneDx Gaithersburg MD USA Epilepsy NeuroGenetics Initiative (ENGIN) Division of Neurology Children’s Hospital of Philadelphia Philadelphia PA USA Department of Neurology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Children’s Mercy Kansas City Genomic Medicine Center The University of Missouri-Kansas City (UMKC) School of Medicine Kansas City MO USA Department of Pediatrics Children’s Mercy Kansas City Kansas City MO USA Children’s Mercy Research Institute Kansas City MO USA Children’s Mercy Hospital Kansas City MO USA University Hospital Dijon Franc

PPFIA3 encodes the protein-tyrosine phosphatase, receptor-type, F-polypeptide-interacting-protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase-interacting-protein (liprin) family involved in synapse formation and function, synaptic vesicle transport, and presynaptic active zone assembly. The protein structure and function are evolutionarily well conserved, but human diseases related to PPFIA3 dysfunction are not yet reported in OMIM. Here, we report 20 individuals with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy with reduced penetrance. Seventeen unique PPFIA3 variants were detected in 18 families. To determine the pathogenicity of PPFIA3 variants in vivo, we generated transgenic fruit flies producing either human wild-type (WT) PPFIA3 or five missense variants using GAL4-UAS targeted gene expression systems. In the fly overexpression assays, we found that the PPFIA3 variants in the region encoding the N-terminal coiled-coil domain exhibited stronger phenotypes compared to those affecting the C-terminal region. In the loss-of-function fly assay, we show that the homozygous loss of fly Liprin-α leads to embryonic lethality. This lethality is partially rescued by the expression of human PPFIA3 WT, suggesting human PPFIA3 function is partially conserved in the fly. However, two of the tested variants failed to rescue the lethality at the larval stage and one variant failed to rescue lethality at the adult stage. Altogether, the human and fruit fly data reveal that the rare PPFIA3 variants are dominant-negative loss-of-function alleles that perturb multiple developmental processes and synapse formation.

关键词： neurodevelopmental disorder synaptic protein active zone protein Mendelian phenotypes fruit flies

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Galactic transient sources with the Cherenkov Telescope Array Observatory

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Monthly Notices of the Royal Astronomical Society 2025年第1期540卷 205–238页

作者： Abe, K Abe, S Abhir, J Abhishek, A Acero, F Acharyya, A Adam, R Aguasca-Cabot, A Agudo, I Aguirre-Santaella, A Alfaro, J Alfaro, R Alvarez-Crespo, N Alves Batista, R Amans, J-P Amato, E Ambrosi, G Ambrosino, F Angüner, E O Antonelli, L A Aramo, C Arcaro, C Arnesen, T T H Asano, K Ascasibar, Y Aschersleben, J Ashkar, H Augusto Stuani, L Baack, D Backes, M Balazs, C Balbo, M Baquero Larriva, A Barbosa Martins, V Barres de Almeida, U Barrio, J A Barrios-Jiménez, L Batković, I Batzofin, R Baxter, J Becerra González, J Becker Tjus, J Belmont, R Benbow, W Bernete, J Bernlöhr, K Berti, A Bertucci, B Beshley, V Bhattacharjee, P Bhattacharyya, S Bigongiari, C Bissaldi, E Blanch, O Blazek, J Bocchino, F Boisson, C Bolmont, J Bonnoli, G Bonollo, A Bordas, P Bosnjak, Z Bottacini, E Böttcher, M Bradascio, F Bronzini, E Brown, A M Brunelli, G Bulgarelli, A Burelli, I Burger-Scheidlin, C Burmistrov, L Burton, M Buscemi, M Cailleux, J Campoy-Ordaz, A Cantlay, B K Capasso, G Caproni, A Capuzzo-Dolcetta, R Caraveo, P Caroff, S Carosi, A Carosi, R Carquin, E Carrasco, M-S Cascone, E Cassol, F Castaldini, L Castrejon, N Castro-Tirado, A J Cerasole, D Ceribella, G Cerruti, M Chadwick, P M Chaty, S Chen, A W Chernyakova, M Chiavassa, A Chudoba, J Chytka, L Cicciari, G M Cifuentes, A Coimbra Araujo, C H Colapietro, M Conforti, V Contreras, J L Cortina, J Costa, A Costantini, H Cotter, G Cristofari, P Cuevas, O Curtis-Ginsberg, Z D’Aì, A D’Amico, G D’Ammando, F Dai, S Dazzi, F de Bony de Lavergne, M De Caprio, V De Cesare, G De Frondat Laadim, F de Gouveia Dal Pino, E M De Lotto, B De Lucia, M de Martino, D de Menezes, R de Naurois, M de Ona Wilhelmi, E de Souza, V del Peral, L del Valle, M V Delgado, C Dell’aiera, M Della Valle, M della Volpe, D Depaoli, D Devin, J Di Girolamo, T Di Piano, A Di Pierro, F Di Tria, R Di Venere, L Diebold, S Dignam, C Dima, R Dinesh, A Djuvsland, J Dominik, R M Dominis Prester, D Donini, A Dorner, D Dörner, J Doro, M Dubos, C Ducci, L Dwarkadas, V V Ebr, J Eckner, C Egberts, K Einecke, S Elsässer, D Emery Department of Physics Tokai University 4-1-1 Kita-Kaname Hiratsuka Kanagawa 259-1292 Japan Institute for Cosmic Ray Research University of Tokyo 5-1-5 Kashiwa-no-ha Kashiwa Chiba 277-8582 Japan ETH Zürich Institute for Particle Physics and Astrophysics Otto-Stern-Weg 5 CH-8093 Zürich Switzerland INFN and Università degli Studi di Siena Dipartimento di Scienze Fisiche della Terra e dell’Ambiente (DSFTA) Sezione di Fisica Via Roma 56 I-53100 Siena Italy Université Paris-Saclay Université Paris Cité CEA CNRS AIM F-91191 Gif-sur-Yvette Cedex France FSLAC IRL 2009 CNRS/IAC E-38205 La Laguna Tenerife Spain University of Alabama Tuscaloosa Department of Physics and Astronomy Gallalee Hall Box 870324 Tuscaloosa AL 35487-0324 USA Université Côte d’Azur Observatoire de la Côte d’Azur CNRS Laboratoire Lagrange UF 06304 Nice France Laboratoire Leprince-Ringuet CNRS/IN2P3 École Polytechnique Institut Polytechnique de Paris F-91120 Palaiseau France Departament de Física Quàntica i Astrofísica Institut de Ciències del Cosmos Universitat de Barcelona IEEC-UB Martí i Franquès 1 E-08028 Barcelona Spain Instituto de Astrofísica de Andalucía-CSIC Glorieta de la Astronomía s/n E-18008 Granada Spain Institute for Computational Cosmology and Department of Physics Durham University South Road Durham DH1 3LE UK Pontificia Universidad Católica de Chile Av. Libertador Bernardo O’Higgins 340 8331150 Santiago Chile Universidad Nacional Autónoma de México Delegación Coyoacán 04510 Ciudad de México Mexico IPARCOS-UCM Instituto de Física de Partículas y del Cosmos and EMFTEL Department Universidad Complutense de Madrid E-28040 Madrid Spain Instituto de Física Teórica UAM/CSIC and Departamento de Física Teórica Universidad Autónoma de Madrid c/ Nicolás Cabrera 13-15 Campus de Cantoblanco UAM E-28049 Madrid Spain LUTH GEPI and LERMA Observatoire de Paris Université PSL Université Paris Cité CNRS 5 place Jules Janssen F-92190 Meudon France INAF – Osservatorio

A wide variety of Galactic sources show transient emission at soft and hard X-ray energies: low- and high-mass X-ray binaries containing compact objects, isolated neutron stars exhibiting extreme variability as magnetars as well as pulsar-wind nebulae. Although most of them can show emission up to MeV and/or GeV energies, many have not yet been detected in the TeV domain by Imaging Atmospheric Cherenkov Telescopes. In this paper, we explore the feasibility of detecting new Galactic transients with the Cherenkov Telescope Array Observatory (CTAO) and the prospects for studying them with Target of Opportunity observations. We show that CTAO will likely detect new sources in the TeV regime, such as the massive microquasars in the Cygnus region, low-mass X-ray binaries with low-viewing angle, flaring emission from the Crab pulsar-wind nebula or other novae explosions, among others. Since some of these sources could also exhibit emission at larger time-scales, we additionally test their detectability at longer exposures. We finally discuss the multiwavelength synergies with other instruments and large astronomical facilities.

关键词： binaries: general stars: magnetars novae cataclysmic variables pulsars: general gamma-rays: general

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Harmonized-Multinational qEEG norms (HarMNqEEG)

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NEUROIMAGE 2022年 256卷 119190-119190页

作者： Li, Min Wang, Ying Lopez-Naranjo, Carlos Hu, Shiang Reyes, Ronaldo Cesar Garcia Paz-Linares, Deirel Areces-Gonzalez, Ariosky Hamid, Aini Ismafairus Abd Evans, Alan C. Savostyanov, Alexander N. Calzada-Reyes, Ana Villringer, Arno Tobon-Quintero, Carlos A. Garcia-Agustin, Daysi Yao, Dezhong Dong, Li Aubert-Vazquez, Eduardo Reza, Faruque Razzaq, Fuleah Abdul Omar, Hazim Abdullah, Jafri Malin Galler, Janina R. Ochoa-Gomez, John F. Prichep, Leslie S. Galan-Garcia, Lidice Morales-Chacon, Lilia Valdes-Sosa, Mitchell J. Trondle, Marius Zulkifly, Mohd Faizal Mohd Rahman, Muhammad Riddha Bin Abdul Milakhina, Natalya S. Langer, Nicolas Rudych, Pavel Koenig, Thomas Virues-Alba, Trinidad A. Lei, Xu Bringas-Vega, Maria L. Bosch-Bayard, Jorge F. Valdes-Sosa, Pedro Antonio [a]The Clinical Hospital of Chengdu Brain Science Institute MOE Key Lab for Neuroinformation School of Life Science and Technology University of Electronic Science and Technology of China Chengdu China [b]Cuban Center for Neurocience La Habana Cuba [c]McGill Centre for Integrative Neuroscience Ludmer Centre for Neuroinformatics and Mental Health Montreal Neurological Institute Canada [d]Department of Neurosciences School of Medical Sciences Universiti Sains Malaysia Universiti Sains Malaysia Health Campus Kota Bharu Kelantan 16150 Malaysia [e]Brain and Behaviour Cluster School of Medical Sciences Universiti Sains Malaysia Health Campus Kota Bharu Kelantan 16150 Malaysia [f]Hospital Universiti Sains Malaysia Universiti Sains Malaysia Health Campus Kota Bharu Kelantan 16150 Malaysia [g]Humanitarian Institute Novosibirsk State University Novosibirsk 630090 Russia [h]Laboratory of Psychophysiology of Individual Differences Federal State Budgetary Scientific Institution Scientific Research Institute of Neurosciences and Medicine Novosibirsk 630117 Russia [i]Laboratory of Psychological Genetics at the Institute of Cytology and Genetics Siberian Branch of the Russian Academy of Sciences Novosibirsk 630090 Russia [j]University of Pinar del Río “Hermanos Saiz Montes de Oca” Pinar del Río Cuba [k]Department of Neurology Max Planck Institute for Human Cognitive and Brain Sciences Leipzig Germany [l]Department of Cognitive Neurology University Hospital Leipzig Leipzig Germany [m]Center for Stroke Research Charité-Universitätsmedizin Berlin Berlin Germany [n]Grupo Neuropsicología y Conducta - GRUNECO Faculty of Medicine Universidad de Antioquia Colombia [o]Research Department Institución Prestadora de Servicios de Salud IPS Universitaria Colombia [p]The Cuban center aging longevity and health Havana Cuba [q]Research Unit of NeuroInformation Chinese Academy of Medical Sciences Chengdu 2019RU035 China [r]School of Electrical Engineering Zhengzhou University Zhengzhou 4500

This paper extends frequency domain quantitative electroencephalography (qEEG) methods pursuing higher sensitivity to detect Brain Developmental Disorders. Prior qEEG work lacked integration of cross-spectral information omitting important functional connectivity descriptors. Lack of geographical diversity precluded accounting for site-specific variance, increasing qEEG nuisance variance. We ameliorate these weaknesses. (i) Create lifespan Riemannian multinational qEEG norms for cross-spectral tensors. These norms result from the HarMNqEEG project fostered by the Global Brain Consortium. We calculate the norms with data from 9 countries, 12 devices, and 14 studies, including 1564 subjects. Instead of raw data, only anonymized metadata and EEG cross spectral tensors were shared. After visual and automatic quality control, developmental equations for the mean and standard deviation of qEEG traditional and Riemannian DPs were calculated using additive mixed-effects models. We demonstrate qEEG "batch effects " and provide methods to calculate harmonized z-scores. (ii) We also show that harmonized Riemannian norms produce z-scores with increased diagnostic accuracy predicting brain dysfunction produced by malnutrition in the first year of life and detecting COVID induced brain dysfunction. (iii) We offer open code and data to calculate different individual z-scores from the HarMNqEEG dataset. These results contribute to developing bias-free, low-cost neuroimaging technologies applicable in various health settings.

关键词： Quantitative EEG EEG cross-spectrum Riemannian geometry Batch effects Z-score Harmonization Malnutrition Covid induced brain dysfunction Developmental Brain Chart

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Author Correction: BigNeuron: a resource to benchmark and predict performance of algorithms for automated tracing of neurons in light microscopy datasets

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Nature methods 2024年第10期21卷 1959页

作者： Linus Manubens-Gil Zhi Zhou Hanbo Chen Arvind Ramanathan Xiaoxiao Liu Yufeng Liu Alessandro Bria Todd Gillette Zongcai Ruan Jian Yang Miroslav Radojević Ting Zhao Li Cheng Lei Qu Siqi Liu Kristofer E Bouchard Lin Gu Weidong Cai Shuiwang Ji Badrinath Roysam Ching-Wei Wang Hongchuan Yu Amos Sironi Daniel Maxim Iascone Jie Zhou Erhan Bas Eduardo Conde-Sousa Paulo Aguiar Xiang Li Yujie Li Sumit Nanda Yuan Wang Leila Muresan Pascal Fua Bing Ye Hai-Yan He Jochen F Staiger Manuel Peter Daniel N Cox Michel Simonneau Marcel Oberlaender Gregory Jefferis Kei Ito Paloma Gonzalez-Bellido Jinhyun Kim Edwin Rubel Hollis T Cline Hongkui Zeng Aljoscha Nern Ann-Shyn Chiang Jianhua Yao Jane Roskams Rick Livesey Janine Stevens Tianming Liu Chinh Dang Yike Guo Ning Zhong Georgia Tourassi Sean Hill Michael Hawrylycz Christof Koch Erik Meijering Giorgio A Ascoli Hanchuan Peng Institute for Brain and Intelligence Southeast University Nanjing China. Microsoft Corporation Redmond WA USA. Tencent AI Lab Bellevue WA USA. Computing Environment and Life Sciences Directorate Argonne National Laboratory Lemont IL USA. Kaya Medical Seattle WA USA. University of Cassino and Southern Lazio Cassino Italy. Center for Neural Informatics Structures and Plasticity Krasnow Institute for Advanced Study George Mason University Fairfax VA USA. Faculty of Information Technology Beijing University of Technology Beijing China. Beijing International Collaboration Base on Brain Informatics and Wisdom Services Beijing China. Nuctech Netherlands Rotterdam the Netherlands. Janelia Research Campus Howard Hughes Medical Institute Ashburn VA USA. Department of Electrical and Computer Engineering University of Alberta Edmonton Alberta Canada. Ministry of Education Key Laboratory of Intelligent Computation and Signal Processing Anhui University Hefei China. Paige AI New York NY USA. Scientific Data Division and Biological Systems and Engineering Division Lawrence Berkeley National Lab Berkeley CA USA. Helen Wills Neuroscience Institute and Redwood Center for Theoretical Neuroscience UC Berkeley Berkeley CA USA. RIKEN AIP Tokyo Japan. Research Center for Advanced Science and Technology (RCAST) The University of Tokyo Tokyo Japan. School of Computer Science University of Sydney Sydney New South Wales Australia. Texas A&M University College Station TX USA. Cullen College of Engineering University of Houston Houston TX USA. Graduate Institute of Biomedical Engineering National Taiwan University of Science and Technology Taipei Taiwan. National Centre for Computer Animation Bournemouth University Poole UK. PROPHESEE Paris France. Department of Neuroscience Columbia University New York NY USA. Mortimer B. Zuckerman Mind Brain Behavior Institute Columbia University New York NY USA. Department of Computer Science Northern Illinois Universit

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Small P values may not yield robust findings:an example using REST-meta-PD

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Science Bulletin 2021年第21期66卷 2148-2152,M0003页

作者： Xi-Ze Jia Na Zhao Hao-Ming Dong Jia-Wei Sun Marek Barton Roxana Burciu Nicolas Carrière Antonio Cerasa Bo-Yu Chen Jun Chen Stephen Coombes Luc Defebvre Christine Delmaire Kathy Dujardin Fabrizio Esposito Guo-Guang Fan Federica Di Nardo Yi-Xuan Feng Brett W.Fling Saurabh Garg Moran Gilat Martin Gorges Shu-Leong Ho Fay BHorak Xiao Hu Xiao-Fei Hu Biao Huang Pei-Yu Huang Ze-Juan Jia Christina Jones Jan Kassubek Lenka Krajcovicova Ajay Kurani Jing Li Qing Li Ai-Ping Liu Bo Liu Hu Liu Wei-Guo Liu Renaud Lopes Yu-Ting Lou Wei Luo Tara Madhyastha Ni-Ni Mao Grainne McAlonan Martin J.McKeown Shirley Pang Andrea Quattrone Irena Rektorova Alessia Sarica Hui-Fang Shang James M.Shine Priyank Shukla Tomas Slavicek Xiao-Peng Song Gioacchino Tedeschi Alessandro Tessitore David Vaillancourt Jian Wang Jue Wang Z.Jane Wang Lu-Qing Wei Xia Wu Xiao-Jun Xu Lei Yan Jing Yang Wan-Qun Yang Nai-Lin Yao De-Long Zhang Jiu-Quan Zhang Min-Ming Zhang Yan-Ling Zhang Cai-Hong Zhou Chao-Gan Yan Xi-Nian Zuo Mark Hallett Tao Wu Yu-Feng Zang Center for Cognition and Brain Disorders the Affiliated HospitalHangzhou Normal UniversityHangzhou 310015China Zhejiang Key Laboratory for Research in Assessment of Cognitive Impairments Hangzhou 311121China National Basic Science Data Center Beijing 100190China State Key Laboratory of Cognitive Neuroscience and Learning&McGovern Institute for Brain Research Beijing Normal UniversityBeijing 100875China School of Information and Electronics Technology Jiamusi UniversityJiamusi 154007China Neuroscience Program Central European Institute of TechnologyCEITECMasaryk UniversityBrno 62500Czech Republic Department of Applied Physiology and Kinesiology University of FloridaGainesville FL 32611USA Univ.Lille InsermCHU LilleU1172-LilNCog-Lille Neuroscience&CognitionLille F-59000France The Institute for Biomedical Research and Innovation National Research CouncilMangone CS 87050Italy Department of Radiology The First Affiliated Hospital of China Medical UniversityShenyang 110001China Department of Radiology Guangdong Provincial Hospital of Chinese MedicineGuangzhou 510120China Department of Medicine Surgery and DentistryScuola Medica SalernitanaUniversity of SalernoFiscianoSA 132-84084Italy Department of Advanced Medical and Surgery Sciences University of Campania“Luigi Vanvitelli”Caserta 81100Italy Eye Center of the 2nd Affiliated Hospital Medical College of Zhejiang UniversityHangzhou 310020China Zhejiang Provincial Key Lab of Ophthalmology Hangzhou 310020China Department of Health and Exercise Science Colorado State UniversityFort Collins CO 80523USA Pacific Parkinson’s Research Centre University of British ColumbiaVancouver BC V6E 2M6Canada Department of Medicine(Neurology)University of British Columbia Vancouver BC V6T 1B7Canada Brain and Mind Center The University of SydneySydney NSW 2006Australia Department of Neurology Ulm UniversityUlm 89081Germany Division of Neurology Department of MedicineQueen Mary HospitalUniversity of Hong KongHong Kong 999077China Department of

Thousands of resting state functional magnetic resonance imaging(RS-f MRI)articles have been published on brain *** precise localization of abnormal brain activity,a voxel-level comparison is *** of the large number of voxels in the brain,multiple comparison correction(MCC)must be performed to reduce false positive rates,and a smaller P value(usually including either liberal or stringent MCC)is widely recommended[1].

关键词：帕金森病 precise correction

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High-depth African genomes inform human migration and health (vol 586, pg 741, 2020)

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NATURE 2021年第7856期592卷 E26-E26页

作者： Choudhury, Ananyo Aron, Shaun Botigue, Laura R. Sengupta, Dhriti Botha, Gerrit Bensellak, Taoufik Wells, Gordon Kumuthini, Judit Shriner, Daniel Fakim, Yasmina J. Ghoorah, Anisah W. Dareng, Eileen Odia, Trust Falola, Oluwadamilare Adebiyi, Ezekiel Hazelhurst, Scott Mazandu, Gaston Nyangiri, Oscar A. Mbiyavanga, Mamana Benkahla, Alia Kassim, Samar K. Mulder, Nicola Adebamowo, Sally N. Chimusa, Emile R. Muzny, Donna Metcalf, Ginger Gibbs, Richard A. Matovu, Enock Bucheton, Bruno Hertz-Fowler, Christiane Koffi, Mathurin Macleod, Annette Mumba-Ngoyi, Dieudonne Noyes, Harry Nyangiri, Oscar A. Simo, Gustave Simuunza, Martin Rotimi, Charles Ramsay, Michele Choudhury, Ananyo Choudhury, Ananyo Aron, Shaun Botigue, Laura Sengupta, Dhriti Botha, Gerrit Bensellak, Taoufik Wells, Gordon Kumuthini, Judit Shriner, Daniel Fakim, Yasmina J. Ghoorah, Anisah W. Dareng, Eileen Odia, Trust Falola, Oluwadamilare Adebiyi, Ezekiel Hazelhurst, Scott Mazandu, Gaston Nyangiri, Oscar A. Mbiyavanga, Mamana Benkahla, Alia Kassim, Samar K. Mulder, Nicola Adebamowo, Sally N. Chimusa, Emile R. Rotimi, Charles Ramsay, Michele Adeyemo, Adebowale A. Lombard, Zane Hanchard, Neil A. Adebamowo, Clement Agongo, Godfred Boua, Romuald P. Oduro, Abraham Sorgho, Hermann Landoure, Guida Cisse, Lassana Diarra, Salimata Samassekou, Oumar Anabwani, Gabriel Matshaba, Mogomotsi Joloba, Moses Kekitiinwa, Adeodata Mardon, Graeme Mpoloka, Sununguko W. Kyobe, Samuel Mlotshwa, Busisiwe Mwesigwa, Savannah Retshabile, Gaone Williams, Lesedi Wonkam, Ambroise Moussa, Ahmed Adu, Dwomoa Ojo, Akinlolu Burke, David Salako, Babatunde O. Matovu, Enock Bucheton, Bruno Hertz-Fowler, Christiane Koffi, Mathurin Macleod, Annette Mumba-Ngoyi, Dieudonne Noyes, Harry Nyangiri, Oscar A. Simo, Gustave Simuunza, Martin Awadalla, Philip Bruat, Vanessa Gbeha, Elias Adeyemo, Adebowale A. Lombard, Zane Hanchard, Neil A. Sydney Brenner Institute for Molecular Bioscience Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa School of Electrical and Information Engineering University of the Witwatersrand Johannesburg South Africa Division of Human Genetics National Health Laboratory Service and School of Pathology Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa Navrongo Health Research Centre Navrongo Ghana Clinical Research Unit of Nanoro Institut de Recherche en Sciences de la Sante Bobo-Dioulasso Burkina Faso Center for Research in Agricultural Genomics (CRAG) Plant and Animal Genomics Program CSIC-IRTA-UAB-UB Barcelona Spain Computational Biology Division and H3ABioNet Department of Integrative Biomedical Sciences IDM University of Cape Town Cape Town South Africa System and Data Engineering Team Abdelmalek Essaadi University ENSA Tangier Morocco Centre for Proteomic and Genomic Research (CPGR) Cape Town South Africa South African National Bioinformatics Institute University of the Western Cape Bellville South Africa Africa Health Research Institute Durban South Africa Center for Research on Genomics and Global Health National Human Genome Research Institute National Institutes of Health Bethesda MD USA Department of Agriculture and Food Science Faculty of Agriculture University of Mauritius Reduit Mauritius Department of Digital Technologies Faculty of Information Communication & Digital Technologies University of Mauritius Reduit Mauritius Department of Public Health and Primary Care University of Cambridge Cambridge UK Institute of Human Virology Nigeria Abuja Nigeria Department of Epidemiology and Public Health University of Maryland School of Medicine University of Maryland Baltimore Baltimore MD USA University of Maryland Greenebaum Comprehensive Cancer Center University of Maryland School of Medicine University of Maryland Baltimore Baltimore MD USA Institute of Human Virology and Greeneba

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A repeating fast radio burst source localised to a nearby spiral galaxy

arXiv

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arXiv 2020年

作者： Marcote, B. Nimmo, K. Hessels, J.W.T. Tendulkar, S.P. Bassa, C.G. Paragi, Z. Keimpema, A. Bhardwaj, M. Karuppusamy, R. Kaspi, V.M. Law, C.J. Michilli, D. Aggarwal, K. Andersen, B. Archibald, A.M. Bandura, K. Bower, G.C. Boyle, P.J. Brar, C. Burke-Spolaor, S. Butler, B.J. Cassanelli, T. Chawla, P. Demorest, P. Dobbs, M. Fonseca, E. Giri, U. Good, D.C. Gourdji, K. Josephy, A. Kirichenko, A.Yu. Kirsten, F. Landecker, T.L. Lang, D. Lazio, T.J.W. Li, D.Z. Lin, H.-H. Linford, J.D. Masui, K. Mena-Parra, J. Naidu, A. Ng, C. Patel, C. Pen, U.-L. Pleunis, Z. Rafiei-Ravandi, M. Rahman, M. Renard, A. Scholz, P. Siegel, S.R. Smith, K.M. Stairs, I.H. Vanderlinde, K. Zwaniga, A.V. Oude Hoogeveensedijk 4 PD Dwingeloo7991 Netherlands ASTRON Netherlands Institute for Radio Astronomy Oude Hoogeveensedijk 4 PD Dwingeloo7991 Netherlands Anton Pannekoek Institute for Astronomy University of Amsterdam Science Park 904 Amsterdam1098 XH Netherlands Department of Physics McGill University 3600 University Street MontréalQCH3A 2T8 Canada McGill Space Institute McGill University 3550 University Street MontréalQCH3A 2A7 Canada Max-Planck-Institut für Radioastronomie Auf dem Hügel 69 BonnD-53121 Germany Department of Astronomy and Owens Valley Radio Observatory California Institute of Technology PasadenaCA91125 United States Department of Physics and Astronomy West Virginia University P.O. Box 6315 MorgantownWV26506 United States Center for Gravitational Waves and Cosmology West Virginia University Chestnut Ridge Research Building MorgantownWV26505 United States School of Mathematics Physics and Statistics University of Newcastle Newcatle upon TyneNE1 7RU United Kingdom Lane Department of Computer Science and Electrical Engineering MorgantownWV26506 United States Academia Sinica Institute of Astronomy and Astrophysics 645 N. A’ohoku Place HiloHI96720 United States National Radio Astronomy Observatory SocorroNM87801 United States Dunlap Institute for Astronomy & Astrophysics University of Toronto 50 St. George Street TorontoONM5S 3H4 Canada Department of Astronomy & Astrophysics University of Toronto 50 St. George Street TorontoONM5S 3H4 Canada Perimeter Institute for Theoretical Physics WaterlooONN2L 2Y5 Canada Department of Physics and Astronomy University of Waterloo WaterlooONN2L 3G1 Canada Department of Physics and Astronomy University of British Columbia 6224 Agricultural Road VancouverBCV6T 1Z1 Canada Instituto de Astronomía Universidad Nacional Autónoma de México Apdo. Postal 877 EnsenadaBaja California22800 Mexico Ioffe Institute 26 Politekhnicheskaya st. St. Petersburg194021 Russia Department o

Fast radio bursts (FRBs) are brief, bright, extragalactic radio flashes1, 2. Their physical origin remains unknown, but dozens of possible models have been postulated3. Some FRB sources exhibit repeat bursts4–7. Though over a hundred FRB sources have been discovered to date8, only four have been localised and associated with a host galaxy9–12, with just one of the four known to repeat9. The properties of the host galaxies, and the local environments of FRBs, provide important clues about their physical origins. However, the first known repeating FRB has been localised to a low-metallicity, irregular dwarf galaxy, and the apparently non-repeating sources to higher-metallicity, massive elliptical or star-forming galaxies, suggesting that perhaps the repeating and apparently non-repeating sources could have distinct physical origins. Here we report the precise localisation of a second repeating FRB source6, FRB 180916.J0158+65, to a star-forming region in a nearby (redshift z = 0.0337 ±0.0002) massive spiral galaxy, whose properties and proximity distinguish it from all known hosts. The lack of both a comparably luminous persistent radio counterpart and a high Faraday rotation measure6 further distinguish the local environment of FRB 180916.J0158+65 from that of the one previously localised repeating FRB source, FRB 121102. This demonstrates that repeating FRBs have a wide range of luminosities, and originate from diverse host galaxies and local environments. Copyright © 2020, The Authors. All rights reserved.

关键词： Galaxies

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The Brain Tumor Segmentation (BraTS-METS) Challenge 2023: Brain Metastasis Segmentation on Pre-treatment MRI

arXiv

引用

arXiv 2023年

作者： Moawad, Ahmed W. Janas, Anastasia Baid, Ujjwal Ramakrishnan, Divya Saluja, Rachit Ashraf, Nader Jekel, Leon Amiruddin, Raisa Adewole, Maruf Albrecht, Jake Anazodo, Udunna Aneja, Sanjay Anwar, Syed Muhammad Bergquist, Timothy Calabrese, Evan Chiang, Veronica Chung, Verena Conte, Gian Marco Marco Dako, Farouk Eddy, James Ezhov, Ivan Familiar, Ariana Farahani, Keyvan Iglesias, Juan Eugenio Jiang, Zhifan Johanson, Elaine Kazerooni, Anahita Fathi Kofler, Florian Krantchev, Kiril LaBella, Dominic Van Leemput, Koen Li, Hongwei Bran Linguraru, Marius George Link, Katherine E. Liu, Xinyang Maleki, Nazanin Meier, Zeke Menze, Bjoern H. Moy, Harrison Osenberg, Klara Piraud, Marie Reitman, Zachary Shinohara, Russel Takeshi Tahon, Nourel hoda Nada, Ayman Velichko, Yuri S. Wang, Chunhao Wiestler, Benedikt Wiggins, Walter Shafique, Umber Willms, Klara Avesta, Arman Bousabarah, Khaled Chakrabarty, Satrajit Gennaro, Nicolo Holler, Wolfgang Kaur, Manpreet LaMontagne, Pamela Lin, MingDe Lost, Jan Marcus, Daniel S. Maresca, Ryan Merkaj, Sarah Nada, Ayaman Pedersen, Gabriel Cassinelli von Reppert, Marc Sotiras, Aristeidis Teytelboym, Oleg Tillmans, Niklas Westerhoff, Malte Youssef, Ayda Godfrey, Devon Floyd, Scott Rauschecker, Andreas Villanueva-Meyer, Javier Pflüger, Irada Cho, Jaeyoung Bendszus, Martin Brugnara, Gianluca Cramer, Justin Perez-Carillo, Gloria Guzman J. Johnson, Derek R. Kam, Anthony Kwan, Benjamin Yin Ming Lai, Lillian Lall, Neil U. Memon, Fatima Patro, Satya Narayana Petrovic, Bojan So, Tiffany Y. Thompson, Gerard Wu, Lei Schrickel, E. Brooke Bansal, Anu Barkhof, Frederik Besada, Cristina Chu, Sammy Druzgal, Jason Dusoi, Alexandru Farage, Luciano Feltrin, Fabricio Fong, Amy Fung, Steve H. Gray, R. Ian Ikuta, Ichiro Iv, Michael Postma, Alida A. Mahajan, Amit Joyner, David Krumpelman, Chase Letourneau-Guillon, Laurent Lincoln, Christie M. Maros, Mate E. Miller, Elka Morón, Fanny Nimchinsky, Esther A. Ozsarlak, Ozkan Patel, Uresh Rohatgi, Saurabh Saha, Atin Sayah, Anousheh Schwartz, Eric D. Shih, Robert Shiroishi, Mark Trinity health Mid Atlantic Hosiptals DarbyPA United States Department of Radiology and Biomedical Imaging Yale School of Medicine New HavenCT United States Division of Computational Pathology Department of Pathology and Laboratory Medicine School of Medicine Indiana University IndianapolisIN United States Department of Electical and Computer Engineering Cornell University Cornell Tech New YorkNY United States Department of Radiology Weill Cornell Medicine New YorkNY United States ImagineQuant Children’s Hospital of Philadelphia PhiladelphiaPA United States College of Medicine Alfaisal University Riyadh Saudi Arabia DKFZ Division of Translational Neurooncology The WTZ German Cancer Consortium DKTK Partner Site University Hospital Essen Essen Germany Medical Artificial Intelligence Lab Crestview Radiology Lagos Nigeria Sage Bionetworks SeattleWA United States Montreal Neurological Institute McGill University Montreal Canada lab Crestview Radiology Lagos Nigeria Department of Therapeutic Radiology Yale School of Medicine New HavenCT United States Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Hospital WashingtonDC United States Department of Radiology Mayo Clinic RochesterMN United States Department of Radiology Duke University Medical Center DurhamNC United States Department of Neurosurgery Yale School of Medicine New HavenCT United States Center for Global Health Perelman School of Medicine University of Pennsylvania PA United States Department of Informatics Technical University Munich Germany Children’s Hospital of Philadelphia University of Pennsylvania PhiladelphiaPA United States Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD United States Athinoula A. Martinos Center for Biomedical Imaging Massachusetts General Hospital BostonMA United States Children’s National Hospital WashingtonDC United States PrecisionFDA U.S. Food and Drug Administration S

The translation of AI-generated brain metastases (BM) segmentation into clinical practice relies heavily on diverse, high-quality annotated medical imaging datasets. The BraTS-METS 2023 challenge has gained momentum for testing and benchmarking algorithms using rigorously annotated internationally compiled real-world datasets. This study presents the results of the segmentation challenge and characterizes the challenging cases that impacted the performance of the winning algorithms. Untreated brain metastases on standard anatomic MRI sequences (T1, T2, FLAIR, T1PG) from eight contributed international datasets were annotated in stepwise method: published UNET algorithms, student, neuroradiologist, final approver neuroradiologist. Segmentations were ranked based on lesion-wise Dice and Hausdorff distance (HD95) scores. False positives (FP) and false negatives (FN) were rigorously penalized, receiving a score of 0 for Dice and a fixed penalty of 374 for HD95. The mean scores for the teams were calculated. Eight datasets comprising 1303 studies were annotated, with 402 studies (3076 lesions) released on Synapse as publicly available datasets to challenge competitors. Additionally, 31 studies (139 lesions) were held out for validation, and 59 studies (218 lesions) were used for testing. Segmentation accuracy was measured as rank across subjects, with the winning team achieving a LesionWise mean score of 7.9. The Dice score for the winning team was 0.65 ± 0.25. Common errors among the leading teams included false negatives for small lesions and misregistration of masks in space. The Dice scores and lesion detection rates of all algorithms diminished with decreasing tumor size, particularly for tumors smaller than 100 mm3. In conclusion, algorithms for BM segmentation require further refinement to balance high sensitivity in lesion detection with the minimization of false positives and negatives. The BraTS-METS 2023 challenge successfully curated well-annotated, diverse d

关键词： Image segmentation

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The evolutionary history of 2,658 cancers (vol 578, pg 122, 2020)

引用

NATURE 2023年第7948期614卷 E42-E42页

作者： Gerstung, Moritz Jolly, Clemency Leshchiner, Ignaty Dentro, Stefan C. Gonzalez, Santiago Rosebrock, Daniel Mitchell, Thomas J. Rubanova, Yulia Anur, Pavana Yu, Kaixian Tarabichi, Maxime Deshwar, Amit Wintersinger, Jeff Kleinheinz, Kortine Vazquez-Garcia, Ignacio Haase, Kerstin Jerman, Lara Sengupta, Subhajit Macintyre, Geoff Malikic, Salem Donmez, Nilgun Livitz, Dimitri G. Cmero, Marek Demeulemeester, Jonas Schumacher, Steven Fan, Yu Yao, Xiaotong Lee, Juhee Schlesner, Matthias Boutros, Paul C. Bowtell, David D. Zhu, Hongtu Getz, Gad Imielinski, Marcin Beroukhim, Rameen Sahinalp, S. Cenk Ji, Yuan Peifer, Martin Markowetz, Florian Mustonen, Ville Yuan, Ke Wang, Wenyi Morris, Quaid D. Spellman, Paul T. Wedge, David C. Van Loo, Peter European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Wellcome Sanger Institute Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany University of Ljubljana Ljubljana Slovenia The Francis Crick Institute London UK Big Data Institute University of Oxford Oxford UK Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Big Data Institute Li Ka Shing Centre University of Oxford Oxford UK University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Department of Applied Mathematics and Theoretical Physics Centre for Mathematical Sciences University of Cambridge Cambridge UK Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York NY USA Department of Statistics Columbia University New York NY USA Department of Haematology University of Cambridge Cambridge UK University of Leuven Leuven Belgium Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Charlestown MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Dana-Farber Cancer Institute Boston MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Oxford NIHR Biomedical Research Centre Oxford UK Oxford NIHR Biomedical Research Centre University of Oxford Oxford UK University of Toronto Toronto Ontario Canada Vector Institute Toronto Ontario Canada Vector Institute Toronto ON Canada Department of Computer Science University of Toronto Toronto ON Canada Ontario Institute for Cancer Research Toronto Ontario Canada University of California Los Angeles

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