UAB Digital Repository of Documents 7 records found  Search took 0.00 seconds. 
1.
63 p, 25.7 MB A draft human pangenome reference / Liao, Wen-Wei (Washington University School of Medicine) ; Asri, Mobin (University of California) ; Ebler, Jana (Heinrich Heine University) ; Doerr, Daniel (Heinrich Heine University) ; Haukness, Marina (University of California) ; Hickey, Glenn (University of California) ; Lu, Shuangjia (Yale University School of Medicine) ; Lucas, Julian K. (University of California) ; Monlong, Jean (University of California) ; Abel, Haley J. (Washington University School of Medicine) ; Buonaiuto, Silvia (Consiglio Nazionale delle Ricerche. Istituto di Genetica e Biofisica) ; Chang, Xian H. (University of California) ; Cheng, Haoyu (Harvard Medical School) ; Chu, Justin (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ; Colonna, Vincenza (University of Tennessee Health Science Center) ; Eizenga, Jordan (University of California) ; Feng, Xiaowen (Harvard Medical School) ; Fischer, Christian (University of Tennessee Health Science Center) ; Fulton, Robert S. (Washington University School of Medicine) ; Garg, Shilpa (Technical University of Denmark) ; Groza, Cristian (McGill University) ; Guarracino, Andrea (Tecnopolo umano. Centro di ricerca sulla genomica) ; Harvey, William T. (University of Washington School of Medicine) ; Heumos, Simon (University of Tübingen) ; Howe, Kerstin (Wellcome Trust Sanger Institute (Regne Unit)) ; Jain, Miten (Northeastern University (USA)) ; Lu, Tsung-Yu (University of Southern California) ; Markello, Charles (University of California) ; Martin, Fergal J. (Wellcome Genome Campus (UK)) ; Mitchell, Matthew W. (Coriell Institute for Medical Research (USA)) ; Munson, Katherine M. (University of Washington School of Medicine) ; Mwaniki, Moses Njagi (Università di Pisa) ; Novak, Adam M. (University of California) ; Olsen, Hugh E. (University of California) ; Pesout, Trevor (University of California) ; Porubsky, David (University of Washington School of Medicine) ; Prins, Pjotr (University of Tennessee Health Science Center) ; Sibbesen, Jonas A. (University of Copenhagen) ; Sirén, Jouni (University of California) ; Tomlinson, Chad (Washington University School of Medicine) ; Villani, Flavia (University of Tennessee Health Science Center) ; Vollger, Mitchell R. (University of Washington School of Medicine) ; Antonacci-Fulton, Lucinda L. (Washington University School of Medicine) ; Baid, Gunjan (Google (USA)) ; Baker, Carl A. (University of Washington School of Medicine) ; Belyaeva, Anastasiya (Google (USA)) ; Billis, Konstantinos (Wellcome Genome Campus (UK)) ; Carroll, Andrew (Google (USA)) ; Chang, Pi-Chuan (Google (USA)) ; Cody, Sarah (Washington University School of Medicine) ; Cook, Daniel E. (Google (USA)) ; Cook-Deegan, Robert M. (Arizona State University) ; Cornejo, Omar E. (University of California) ; Diekhans, Mark (University of California) ; Ebert, Peter (Heinrich Heine University) ; Fairley, Susan (Wellcome Genome Campus (UK)) ; Fedrigo, Olivier (The Rockefeller University) ; Felsenfeld, Adam L. (National Institutes of Health (USA)) ; Formenti, Giulio (The Rockefeller University) ; Frankish, Adam (Wellcome Genome Campus (UK)) ; Gao, Yan (The Children's Hospital of Philadelphia) ; Garrison, Nanibaa' A. (University of California) ; Giron, Carlos Garcia (Wellcome Genome Campus (UK)) ; Green, Richard E. (Dovetail Genomics) ; Haggerty, Leanne (Wellcome Genome Campus (UK)) ; Hoekzema, Kendra (University of Washington School of Medicine) ; Hourlier, Thibaut (Wellcome Genome Campus (UK)) ; Ji, Hanlee P. (Stanford University School of Medicine) ; Kenny, Eimear E. (Icahn School of Medicine at Mount Sinai) ; Koenig, Barbara A. (University of California) ; Kolesnikov, Alexey (Google (USA)) ; Korbel, Jan O. (European Molecular Biology Laboratory) ; Kordosky, Jennifer (University of Washington School of Medicine) ; Koren, Sergey (National Institutes of Health (USA)) ; Lee, HoJoon (Stanford University School of Medicine) ; Lewis, Alexandra P. (University of Washington School of Medicine) ; Magalhães, Hugo (Heinrich Heine University) ; Marco-Sola, Santiago (Universitat Autònoma de Barcelona. Departament d'Arquitectura de Computadors i Sistemes Operatius) ; Marijon, Pierre (Heinrich Heine University) ; McCartney, Ann (National Institutes of Health (USA)) ; McDaniel, Jennifer (National Institute of Standards and Technology (USA)) ; Mountcastle, Jacquelyn (The Rockefeller University) ; Nattestad, Maria (Google (USA)) ; Nurk, Sergey (National Institutes of Health (USA)) ; Olson, Nathan D. (National Institute of Standards and Technology (USA)) ; Popejoy, Alice B. (University of California) ; Puiu, Daniela (Johns Hopkins University) ; Rautiainen, Mikko (National Institutes of Health (USA)) ; Regier, Allison A. (Washington University School of Medicine) ; Rhie, Arang (National Institutes of Health (USA)) ; Sacco, Samuel (University of California) ; Sanders, Ashley D. (Max Delbrück Center for Molecular Medicine in the Helmholtz Association) ; Schneider, Valerie A. (National Institutes of Health (USA)) ; Schultz, Baergen I. (National Institutes of Health (USA)) ; Shafin, Kishwar (Google (USA)) ; Smith, Michael W. (National Institutes of Health (USA)) ; Sofia, Heidi J. (National Institutes of Health (USA)) ; Abou Tayoun, Ahmad N. (Mohammed Bin Rashid University of Medicine and Health Sciences) ; Thibaud-Nissen, Françoise (National Institutes of Health (USA)) ; Tricomi, Francesca Floriana (Wellcome Genome Campus (UK)) ; Wagner, Justin (National Institute of Standards and Technology (USA)) ; Walenz, Brian (National Institutes of Health (USA)) ; Wood, Jonathan M. D. (Wellcome Trust Sanger Institute (Regne Unit)) ; Zimin, Aleksey V. (Johns Hopkins University) ; Bourque, Guillaume (Kyoto University) ; Chaisson, Mark (University of Southern California) ; Flicek, Paul (Wellcome Genome Campus (UK)) ; Phillippy, Adam M. (National Institutes of Health (USA)) ; Zook, Justin M. (National Institute of Standards and Technology (USA)) ; Eichler, Evan E. (Howard Hughes Medical Institute) ; Haussler, David (Howard Hughes Medical Institute) ; Wang, Ting (Washington University School of Medicine) ; Jarvis, Erich (The Rockefeller University) ; Miga, Karen H. (University of California) ; Garrison, Erik (University of Tennessee Health Science Center) ; Marschall, Tobias (Heinrich Heine University) ; Hall, Ira M. (Yale University School of Medicine) ; Li, Heng (Harvard Medical School) ; Paten, Benedict (University of California)
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. [...]
2023 - 10.1038/s41586-023-05896-x
Nature, Vol. 617 (May 2023) , p. 312-324  
2.
14 p, 3.8 MB Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution / Maggiolini, Flavia Angela Maria (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Sanders, Ashley D. (European Molecular Biology Laboratory) ; Shew, Colin James (University of California. Department of Biochemistry & Molecular Medicine) ; Sulovari, Arvis (University of Washington School of Medicine. Department of Genome Sciences) ; Mao, Yafei (University of Washington School of Medicine. Department of Genome Sciences) ; Puig Font, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Catacchio, Claudia Rita (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Dellino, Maria (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Palmisano, Donato (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Mercuri, Ludovica (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Bitonto, Miriana (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Porubský, David (University of Washington School of Medicine. Department of Genome Sciences) ; Cáceres Aguilar, Mario (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Eichler, Evan E. (University of Washington. Howard Hughes Medical Institute) ; Ventura, Mario (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia) ; Dennis, Megan Y. (University of California. Department of Biochemistry & Molecular Medicine) ; Korbel, Jan O. (European Molecular Biology Laboratory) ; Antonacci, Francesca (Università degli Studi di Bari "Aldo Moro". Dipartimento di Biologia)
Rhesus macaque is an Old World monkey that shared a common ancestor with human ∼25 Myr ago and is an important animal model for human disease studies. A deep understanding of its genetics is therefore required for both biomedical and evolutionary studies. [...]
2020 - 10.1101/gr.265322.120
Genome research, Vol. 30, Issue 11 (November 2020) , p. 1680-1693  
3.
8 p, 990.0 KB The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild / Prado-Martinez, Javier (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Hernando Herraez, Irene (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Lorente-Galdos, Belen (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Dabad, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Ramírez, Óscar (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Baeza Delgado, Carlos (Universitat de València. Departament de Bioquímica i Biologia Molecular) ; Morcillo-Suarez, Carlos (Universitat Pompeu Fabra. Instituto Nacional de Bioinformatica) ; Alkan, Can (Bilkent University. Department of Computer Engineering) ; Hormozdiari, Fereydoun (University of Washington. Department of Genome Sciences) ; Raineri, Emanuele (Centre Nacional d'Anàlisi Genòmica) ; Estellé, Jordi (Centre Nacional d'Anàlisi Genòmica) ; Fernández, Marcos (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Valles, Mònica (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Ritscher, Lars (University of Leipzig. Institute of Biochemistry) ; Schöneberg, Torsten (University of Leipzig. Institute of Biochemistry) ; De la Calle-Mustienes, Elisa (Centro Andaluz de Biología del Desarrollo) ; Casillas Viladerrams, Sònia (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Rubio Acero, Raquel (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Melé, M. (Universitat Pompeu Fabra. Centre de Regulació Genòmica (CRG-UPF)) ; Engelken, Johannes (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Cáceres Aguilar, Mario (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Gomez-Skarmeta, José Luis (Centro Andaluz de Biología del Desarrollo) ; Gut, Marta (Centre Nacional d'Anàlisi Genòmica) ; Bertranpetit, Jaume (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Gut, Ivo (Centre Nacional d'Anàlisi Genòmica) ; Abello, Teresa (Zoo de Barcelona) ; Eichler, Evan E. (Howard Hugues Medical Institute) ; Mingarro, Ismael (Universitat de València. Departament de Bioquímica i Biologia Molecular) ; Lalueza-Fox, Carles (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Navarro, Arcadi, 1969- (Institució Catalana de Recerca i Estudis Avançats) ; Marques-Bonet, Tomas 1975- (Institució Catalana de Recerca i Estudis Avançats)
Background: the only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i. [...]
2013 - 10.1186/1471-2164-14-363
BMC genomics, Vol. 14 (2013) , art. 363  
4.
5 p, 788.2 KB Great ape genetic diversity and population history / Prado-Martinez, Javier (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Sudmant, Peter H. (Department of Genome Sciences. University of Washington) ; Kidd, Jeffrey (Department of Genetics. Stanford University) ; Li, Heng (Department of Genetics. Harvard Medical School, Boston) ; Kelley, Joanna (Department of Genetics. Stanford University) ; Lorente-Galdos, Belen (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Veeramah, Krishna (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ; Woerner, August (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ; O'Connor, Timothy (Department of Genome Sciences. University of Washington) ; Santpere, Gabriel (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Cagan, Alexander (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ; Theunert, Christoph (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ; Casals, Ferran (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Laayouni, Hafid (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Munch Terkelsen, Kasper (Aarhus University. Bioinformatics Research Centre) ; Hobolth, Asger (Aarhus University. Bioinformatics Research Centre) ; Halager, Anders E. (Aarhus University. Bioinformatics Research Centre) ; Malig, Maika (Department of Genome Sciences. University of Washington) ; Hernandez-Rodriguez, Jessica (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Hernando-Herraez, Irene (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Prüfer, Kay (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ; Pybus, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Johnstone, Laurel (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ; Lachmann, Michael (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ; Alkan, Can (Bilkent University. Faculty of Engineering) ; Twigg, Dorina (Department of Human Genetics. University of Michigan) ; Petit Marty, Natalia (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Baker, Carl (Department of Genome Sciences. University of Washington) ; Hormozdiari, Fereydoun (University of Washington. Department of Genome Sciences) ; Fernández, Marcos (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Dabad, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Wilson, Michael L. (Department of Anthropology. University of Minnesota) ; Stevison, Laurie (Institute for Human Genetics. University of California San Francisco) ; Camprubí Sánchez, Cristina (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Carvalho, Tiago (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Ruiz-Herrera Moreno, Aurora (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Vives, Laura T. (Department of Genome Sciences. University of Washington) ; Mele, Marta (Centre de Regulació Genòmica) ; Abelló, María Teresa. (Zoo de Barcelona) ; Kondova, Ivanela (Biomedical Primate Research Centre) ; Bontrop, Ronald (Biomedical Primate Research Centre) ; Pusey, Anne E (Duke University. Department of Evolutionary Anthropology) ; Lankester, Felix (Washington State University. Paul G. Allen School for Global Animal Health) ; Kiyang, John A. (Limbe Wildlife Centre) ; Bergl, Richard A. (North Carolina Zoological Park) ; Lonsdorf, E. (Franklin and Marshall College. Department of Psychology) ; Myers, S. (Oxford University. Department of Statistics) ; Ventura, M. (University of Bari. Department of Genetics and Microbiology) ; Gagneux, Pascal (University of California San Diego. Department of Cellular and Molecular Medicine) ; Comas, D. (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Siegismund, H. (University of Copenhagen Department of Biology, Bioinformatics) ; Blanc, Julie (Centro Nacional de Análisis Genómico (CNAG). PCB) ; Agueda Calpena, Lidia (Centro Nacional de Análisis Genómico (CNAG). PCB) ; Gut, Marta (Centro Nacional de Análisis Genómico (CNAG). PCB) ; Fulton, L. A (Washington University School of Medicine. Genome Sequencing Center) ; Tishkoff, S. A. (University of Pennsylvania. Department of Biology and Genetics) ; Mullikin, J. C. (National Institutes of Health Intramural Sequencing Center (Bethesda, Estats Units d'Amèrica)) ; Wilson, R. K. (Washington University School of Medicine. Genome Sequencing Center) ; Gut, I. G. (Centro Nacional de Análisis Genómico (CNAG). PCB) ; Gonder, M. K. (University at Albany) ; Ryder, O. A. (Genetics Division. San Diego Zoo's Institute for Conservation Research) ; Hahn, B. H. (University of Pennsylvania. Departments of Medicine and Microbiology) ; Navarro, Arcadi, 1969- (Institució Catalana de Recerca i Estudis Avançats) ; Akey, J. M. (University of Washington. Department of Genome Sciences) ; Bertranpetit, Jaume (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ; Reich, D. (Harvard Medical School. Department of Genetics) ; Mailund, Thomas (Aarhus University. Bioinformatics Research Centre) ; Schierup, Mikkel Heide (Aarhus University. Department of Bioscience) ; Hvilsom, Christina (Copenhagen Zoo) ; Andrés, A. M. (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ; Wall, J. D. (University of California San Francisco. Institute for Human Genetics) ; Bustamante, Carlos D (Stanford University. Department of Genetics) ; Hammer, M. F. (University of Arizona. Arizona Research Laboratories. Division of Biotechnology) ; Eichler, Evan E (Howard Hughes Medical Institute) ; Marques-Bonet, Tomas 1975- (Institució Catalana de Recerca i Estudis Avançats)
Most great ape genetic variation remains uncharacterized; however, its study is critical for understanding population history, recombination, selection and susceptibility to disease. Here we sequence to high coverage a total of 79 wild- and captive-born individuals representing all six great ape species and seven subspecies and report 88. [...]
2013 - 10.1038/nature12228
Nature, Vol. 499, issue 7459 (July 2013) , p. 471-475  
5.
16 p, 3.4 MB AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders / Salpietro, Vincenzo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Dixon, Christine L. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Guo, Hui (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bello, Oscar D. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ; Efthymiou, Stephanie (University College London) ; Maroofian, Reza (UCL Queen Square Institute of Neurology (Regne Unit)) ; Heimer, Gali (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Burglen, Lydie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Département de Génétique et Embryologie Médicale. APHP. Hôpital Trousseau) ; Valence, Stephanie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Service de Neurologie Pédiatrique. APHP. Hôpital Trousseau) ; Torti, Erin (GeneDx) ; Hacke, Moritz (Biochemistry Center. Heidelberg University) ; Rankin, Julia (Royal Devon and Exeter NHS Foundation Trust) ; Tariq, Huma (UCL Queen Square Institute of Neurology (Regne Unit)) ; Colin, Estelle (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Procaccio, Vincent (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Striano, Pasquale (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Mankad, Kshitij (Great Ormond Street Hospital for Children (Londres)) ; Lieb, Andreas (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Chen, Sharon (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Pisani, Laura (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Bettencourt, Conceição (UCL Institute of Neurology (Regne Unit)) ; Männikkö, Roope (UCL Queen Square Institute of Neurology (Regne Unit)) ; Manole, Andreea (UCL Queen Square Institute of Neurology (Regne Unit)) ; Brusco, Alfredo (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Grosso, Enrico (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Ferrero, Giovanni Battista (Department of Public Health and Pediatrics. University of Torino) ; Armstrong, Judith (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Gueden, Sophie (Unit of Neuropediatrics. University Hospital) ; Bar-Yosef, Omer (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Tzadok, Michal (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Monaghan, Kristin G. (GeneDx) ; Santiago-Sim, Teresa (GeneDx) ; Person, Richard E. (GeneDx) ; Cho, Megan T. (GeneDx) ; Willaert, Rebecca (GeneDx) ; Yoo, Kristin (Department of Biomedical Sciences. Seoul National University) ; Chae, Jong-Hee (Department of Pediatrics. Seoul National University) ; Quan, Yingting (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wu, Huidan (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wang, Tianyun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bernier, Raphael A. (Department of Psychiatry. University of Washington) ; Xia, Kun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Blesson, Alyssa (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Jain, Mahim (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Motazacker, Mohammad M. (Department of Clinical Genetics. University of Amsterdam) ; Jaeger, Bregje (Department of Pediatric Neurology. Amsterdam UMC) ; Schneider, Amy L. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Boysen, Katja (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Muir, Alison M. (Department of Pediatrics. University of Washington) ; Myers, Candance T. (Department of Pediatrics. Division of Genetic Medicine. University of Washington) ; Gavrilova, Ralitza H. (Department of Clinical Genomics. Mayo Clinic) ; Gunderson, Lauren (Department of Clinical Genomics. Mayo Clinic) ; Schultz-Rogers, Laura (Department of Clinical Genomics. Mayo Clinic) ; Klee, Eric W. (Department of Clinical Genomics. Mayo Clinic) ; Dyment, David (Children's Hospital of Eastern Ontario Research Institute. University of Ottawa) ; Osmond, Matthew (Genome Québec Innovation Center) ; Parellada, Mara (Hospital General Universitario Gregorio Marañón) ; Llorente, Cloe (Hospital General Universitario Gregorio Marañón) ; González-Peñas, Javier (Hospital General Universitario Gregorio Marañón) ; Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ; Van Haeringen, Arie (Department of Clinical Genetics. Leiden University Medical Center) ; Ruivenkamp, Claudia (Department of Clinical Genetics. Leiden University Medical Center) ; Nava, Caroline (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Heron, Delphine (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Nardello, Rosaria (Department of Health Promotion,Mother and Child Care. Internal Medicine and Medical Specialities "G. D'Alessandro". University of Palermo) ; Iacomino, Michele (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Minetti, Carlo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Skabar, Aldo (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Fabretto, Antonella (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Hanna, Michael (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bugiardini, Enrico (UCL Queen Square Institute of Neurology (Regne Unit)) ; Hostettler, Isabel Charlotte (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Callaghan, Benjamin (UCL Queen Square Institute of Neurology (Regne Unit)) ; Khan, Alaa (UCL Queen Square Institute of Neurology (Regne Unit)) ; Cortese, Andrea (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Connor, Emer (UCL Queen Square Institute of Neurology (Regne Unit)) ; Yau, Wai Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bourinaris, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ; Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ; Madej, Monika (UCL Queen Square Institute of Neurology (Regne Unit)) ; Diana, Maria C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Vari, Maria S. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Pedemonte, Marina (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Bruno, Claudio (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Balagura, Ganna (University of Genoa. Department of Neurosciences) ; Scala, Marcello (University of Genoa. Department of Neurosciences) ; Fiorillo, Chiara (University of Genoa. Department of Neurosciences) ; Nobili, Lino (University of Genoa. Department of Neurosciences) ; Malintan, Nancy T. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Zanetti, Maria N. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Krishnakumar, Shyam S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Lignani, Gabriele (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Jepson, James E. C. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Broda, Paolo (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Baldassari, Simona (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Rossi, Pia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Fruscione, Floriana (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Madia, Francesca (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Traverso, Monica (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; De-Marco, Patrizia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ; Kriouile, Yamna (Children's Hospital of Rabat. University of Rabat) ; El-Khorassani, Mohamed (Children's Hospital of Rabat. University of Rabat) ; Karashova, Blagovesta (Department of Paediatrics. Medical University of Sofia) ; Avdjieva, Daniela (Department of Paediatrics. Medical University of Sofia) ; Kathom, Hadil (Department of Paediatrics. Medical University of Sofia) ; Tincheva, Radka (Department of Paediatrics. Medical University of Sofia) ; Van-Maldergem, Lionel (Centre of Human Genetics. University Hospital Liege) ; Nachbauer, Wolfgang (Department of Neurology. Medical University Innsbruck) ; Boesch, Sylvia (Department of Neurology. Medical University Innsbruck) ; Gagliano, Antonella (Ospedale Pediatrico "A. Cao". Department of Biomedical Sciences. University of Cagliari) ; Amadori, Elisabetta (Child and Adolescent Neuropsychiatry. University of Campania "Luigi Vanvitelli") ; Goraya, Jatinder S. (Division of Paediatric Neurology. Dayanand Medical College & Hospital) ; Sultan, Tipu (Department of Paediatric Neurology. Children's Hospital of Lahore) ; Kirmani, Salman (Department of Medical Genetics. Aga Khan University Hospital. Karachi) ; Ibrahim, Shahnaz (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Jan, Farida (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Mine, Jun (Department of Pediatrics. Shimane University School of Medicine) ; Banu, Selina (Institute of Child Health and Shishu Shastho Foundation Hospital) ; Veggiotti, Pierangelo (Vittore Buzzi Children's Hospital) ; Zuccotti, Gian V. (Vittore Buzzi Children's Hospital) ; Ferrari, Michel D.. (Leiden University Medical Center) ; Van Den Maagdenberg, Arn M. J. (Leiden University Medical Center) ; Verrotti, Alberto (Paediatric Department. San Salvatore Hospital. University of L'Aquila) ; Marseglia, Gian Luigi (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Savasta, Salvatore (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Soler, Miguel A. (Computational Modelling of Nanoscale and Biophysical systems Laboratory. Italian Institute of Technology) ; Scuderi, Carmela (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Borgione, Eugenia (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Chimenz, Roberto (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Gitto, Eloisa (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Dipasquale, Valeria (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Sallemi, Alessia (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Fusco, Monica (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cuppari, Caterina (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cutrupi, Maria C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Ruggieri, Martino (Department of Clinical and Experimental Medicine. Section of Pediatrics and Child Neuropsychiatry. University of Catania) ; Cama, Armando (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Capra, Valeria (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Mencacci, Niccolò Emanuele (Department of Neurology. Northwestern University Feinberg School of Medicine) ; Boles, Richard (Courtagen Life Sciences) ; Gupta, Neerja (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Kabra, Madhulika (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Papacostas, Savvas (The Cyprus Institute of Neurology and Genetics) ; Zamba-Papanicolaou, Eleni (The Cyprus Institute of Neurology and Genetics) ; Dardiotis, Efthimios (General University Hospital of Larissa (Grècia)) ; Maqbool, Shazia (Department of Developmental and Behavioral Pediatrics. Children Hospital Complex and Institute of Child Health) ; Rana, Nuzhat (Department of Pediatric Neurology. Children Hospital Complex and Institute of Child Health) ; Atawneh, Osama (Hilal Pediatric Hospital Hebron. Hebron. West Bank) ; Lim, Shen Y. (Department of Biomedical Science. Faculty of Medicine. University of Malaysia) ; Shaikh, Mohmad Farooq (Jeffrey Cheah School of Medicine and Health Sciences. Monash University Malaysia) ; Koutsis, George (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Breza, Marianthi (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Coviello, Domenico (Laboratorio di Genetica Umana. IRCCS Istituto Giannina Gaslini) ; Dauvilliers, Yves (University Hospital of Montpellier (França)) ; AlKhawaja, Issam (Albashir University Hospital) ; AlKhawaja, Mariam (Prince Hamzah Hospital. Ministry of Health) ; Al-Mutairi, Fuad (King Saud University) ; Stojkovic, Tanya (Institute of Myology. Hôpital La Pitié Salpêtrière) ; Ferrucci, Veronica (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Zollo, Massimo (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Alkuraya, Fowzan S (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ; Kinali, Maria (The Portland Hospital) ; Sherifa, Hamed (Assiut University Hospital) ; Benrhouma, Hanene (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Turki, Ilhem B. Y. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Tazir, Meriem (Laboratoire de Recherche en Neurosciences. Service de Neurologie) ; Obeid, Makram (Department of Anatomy. Cell Biology and Physiology. American University of Beirut Medical Center) ; Bakhtadze, Sophia (Department of Child Neurology. Tbilisi State Medical University) ; Saadi, Marianthi W. (Baghdad College of Medicine. Children Welfare Teaching Hospital) ; Zaki, Maha (Human Genetics and Genome Research Division. National Research Centre) ; Triki, Chahnez C. (Child Neurology Department. Hedi Chaker hospital- Sfax Tunisia) ; Benfenati, Fabio (Istituto Italiano di Tecnologia) ; Gustincich, Stefano (Istituto Italiano di Tecnologia) ; Kara, Majdi (Paediatric Neurology Unit. Department of Pediatrics. University of Tripoli) ; Belcastro, Vincenzo (Neurology Unit. S. Anna Hospital) ; Specchio, Nicola (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ; Capovilla, Giuseppe (Child Neuropsychiatry Department. Epilepsy Center. C. Poma Hospital) ; Karimiani, Ehsan G. (Genetics Research Centre. Molecular and Clinical Sciences Institute. St George's. University of London. Cranmer Terrace) ; Salih, Ahmed M. (Medical University of Duhok) ; Okubadejo, Njideka (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Ojo, Oluwadamilola (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oshinaike, Olajumoke O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oguntunde, Olapeju (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Wahab, Kolawole Wasiu (University of Ilorin Teaching Hospital (UITH)) ; Bello, Abiodun H. (University of Ilorin Teaching Hospital (UITH)) ; Abubakar, Sanni (Ahmadu Bello University) ; Obiabo, Yahaya (Delta State University Teaching Hospital) ; Nwazor, Ernest (Federal Medical Centre) ; Ekenze, Oluchi (University of Nigeria Teaching Hospital) ; Williams, Uduak (University of Calabar Teaching Hospital) ; Iyagba, Alagoma (University of Port Harcourt Teaching Hospital) ; Taiwo, Lolade (Babcock University. Ilishan. Remo & Federal Medical Centre) ; Komolafe, Morenikeji (Obafemi Awolowo University Teaching Hospital (OAUTH)) ; Senkevich, Konstantin (Pavlov First Saint Petersburg State Medical University) ; Shashkin, Chingiz (Kazakh National State University) ; Zharkynbekova, Nazira (Shymkent Medical Academy) ; Koneyev, Kairgali (Kazakh National State University) ; Manizha, Ganieva (Avicenna Tajik State Medical University) ; Isrofilov, Maksud (Avicenna Tajik State Medical University) ; Guliyeva, Ulviyya (Mediclub clinic) ; Salayev, Kamran (Azerbaijan State Medical University) ; Khachatryan, Samson G. ("Somnus" Neurology Clinic Sleep and Movement Disorders Center) ; Rossi, Salvatore (Department of Neurology. Università Cattolica del Sacro Cuore) ; Silvestri, Gabriella (Department of Neurology. Università Cattolica del Sacro Cuore) ; Haridy, Nourelhoda A. (Department of Neurology and Psychiatry. Assuit University Hospital) ; Ramenghi, Luca A. (Neonatal Intensive Care Unit. Istituto Giannina Gaslini) ; Xiromerisiou, Georgia (Department of Neurology. Medical School. University of Thessaly) ; David, Emanuele (Radiology Unit. Papardo Hospital. Viale Ferdinando Stagno d'Alcontres. Contrada Papardo) ; Aguennouz, M'hammed (Unit of Neurology and Neuromuscular Diseases. Department of Clinical and Experimental Medicine. University of Messina) ; Fidani, Lliana (Department of Biology. Medical School. Aristotle University) ; Spanaki, Cleanthe (Department of Neurology. Medical School. University of Crete) ; Tucci, Arianna (William Harvey Research Institute. The NIHR Biomedical Research Centre at Barts. Queen Mary University London) ; Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ; Chez, Michael (Neuroscience Medical Group. 1625 Stockton Boulevard. Suite 104) ; Tsai, Anne (Department of Genetics and Inherited Metabolic diseases. Children's Hospital Colorado) ; Fassi, Emily (Department of Pediatrics. Washington University School of Medicine) ; Shinawi, Marwan (Department of Pediatrics. Washington University School of Medicine) ; Constantino, John N. (William Greenleaf Eliot Division of Child & Adolescent Psychiatry. Department of Psychiatry. Washington University School of Medicine) ; De Zorzi, Rita (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Fortuna, Sara (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Kok, Fernando (Mendelics Genomic Analysis) ; Keren, Boris (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Bonneau, Dominique (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Choi, Murim (Department of Biomedical Sciences. Seoul National University) ; Benzeev, Bruria (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Zara, Federico (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Mefford, Heather C. (Department of Pediatrics. University of Washington) ; Scheffer, Ingrid E. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Clayton-Smith, Jill (Division of Evolution and Genomic Sciences. School of Biological Sciences. University of Manchester) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Rothman, James E. (Department of Cell Biology. Yale University School of Medicine) ; Eichler, Evan E (Howard Hughes Medical Institute. University of Washington) ; Kullmann, Dimitri M. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Houlden, Henry (UCL Queen Square Institute of Neurology (Regne Unit)) ; Universitat Autònoma de Barcelona
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca-impermeable, with a linear relationship between current and trans-membrane voltage. [...]
2019 - 10.1038/s41467-019-10910-w
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3094  
6.
15 p, 775.3 KB The comparative genomics and complex population history of Papio baboons / Rogers, Jeffrey (Baylor College of Medicine. Human Genome Sequencing Center) ; Raveendran, Muthuswamy (Baylor College of Medicine. Human Genome Sequencing Center) ; Harris, R. Alan (Baylor College of Medicine. Human Genome Sequencing Center) ; Mailund, Thomas (Aarhus University. Bioinformatics Research Centre) ; Leppälä, Kalle (Aarhus University. Bioinformatics Research Centre) ; Athanasiadis, Georgios (Aarhus University. Bioinformatics Research Centre) ; Schierup, Mikkel Heide (Aarhus University. Bioinformatics Research Centre) ; Cheng, Jade (Aarhus University. Bioinformatics Research Centre) ; Munch, Kasper (Aarhus University. Bioinformatics Research Centre) ; Walker, Jerilyn A. (Louisiana State University. Department of Biological Sciences) ; Konkel, Miriam K. (Clemson University. Department of Genetics and Biochemistry) ; Jordan, Vallmer (Louisiana State University. Department of Biological Sciences) ; Steely, Cody J. (Louisiana State University. Department of Biological Sciences) ; Beckstrom, Thomas O. (Louisiana State University. Department of Biological Sciences) ; Bergey, Christina (New York University. Department of Anthropology) ; Burrell, Andrew (New York University. Department of Anthropology) ; Schrempf, Dominik (Universität Wien. Institut für Populationsgenetik, Veterinärmedizinische) ; Noll, Angela (Leibniz Institute for Primate Research. German Primate Center) ; Kothe, Maximillian (Leibniz Institute for Primate Research. German Primate Center) ; Kopp, Gisela H. (Leibniz Institute for Primate Research. German Primate Center) ; Liu, Yue (Baylor College of Medicine. Human Genome Sequencing Center) ; Murali, Shwetha (Baylor College of Medicine. Human Genome Sequencing Center) ; Billis, Konstantinos (Wellcome Genome Campus. European Bioinformatics Institute) ; Martin, Fergal J. (Wellcome Genome Campus. European Bioinformatics Institute) ; Muffato, Matthieu (Wellcome Genome Campus. European Bioinformatics Institute) ; Cox, Laura (Texas Biomedical Research Institute. Southwest National Primate Research Center) ; Else, James (Emory University. Yerkes Primate Research Center) ; Disotell, Todd (New York University. Department of Anthropology) ; Muzny, Donna M. (Baylor College of Medicine. Human Genome Sequencing Center) ; Phillips-Conroy, Jane (Washington University School of Medicine. Department of Neuroscience) ; Aken, Bronwen (Wellcome Genome Campus. European Bioinformatics Institute) ; Eichler, Evan E. (University of Washington. Department of Genome Sciences) ; Marques-Bonet, Tomas, 1975- (Institut Català de Paleontologia Miquel Crusafont) ; Kosiol, Carolin (Universität Wien. Institut für Populationsgenetik, Veterinärmedizinische) ; Batzer, Mark A. (Louisiana State University. Department of Biological Sciences) ; Hahn, Matthew W. (Indiana University Bloomington. Department of Biology) ; Tung, Jenny (Duke University. Department of Biology) ; Zinner, Dietmar (Leibniz Institute for Primate Research. German Primate Center) ; Roos, Christian (Leibniz Institute for Primate Research. German Primate Center) ; Jolly, Clifford (New York University. Department of Anthropology) ; Gibbs, Richard A. (Baylor College of Medicine. Human Genome Sequencing Center) ; Worley, Kim C. (Baylor College of Medicine. Human Genome Sequencing Center) ; Baboon Genome Analysis Consortium
Recent studies suggest that closely related species can accumulate substantial genetic and phenotypic differences despite ongoing gene flow, thus challenging traditional ideas regarding the genetics of speciation. [...]
2019 - 10.1126/sciadv.aau6947
Science advances, Vol. 5, no. 1 (Jan. 2019) , art. eaau6947  
7.
2 p, 26.1 KB Evan E. Eichler / Eichler, Evan E. (University of Washington (Seattle, Estats Units d'Amèrica)) ; Gallegos Riera, Pablo ; Santos, Lucas
Des de 2005 és investigador de l'Institut Mèdic Howard Hughes i professor adjunt del deptartament de Ciències del Genoma de la Universitat de Washington, Seattle, (Washington). El professor Eichler es va doctorar en Genètica molecular Baylor al College of Medicine, Houston, (Texas), als Estats Units. [...]
Desde el 2005 es investigador del Instituto Médico Howard Hughes y profesor adjunto del Departamento de Ciencias del Genoma del la Universidad de Washington, Seattle, (Washington). El profesor Eichler se doctoró en Genética molecular Baylor al College of Medicine, Houston, (Texas), en los Estados Unidos. [...]

2007
UAB divulga, gener 2007, p. 1-2 (Entrevistes)
2 documents

See also: similar author names
2 Eichler, Evan E
5 Eichler, Evan E.
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