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15 p, 2.1 MB |
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development
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Chee, Justine M. (Oakland University William Beaumont) ;
Lanoue, Louise (University of California Davis) ;
Clary, Dave (University of California Davis) ;
Higgins, Kendall (University of Miami) ;
Bower, Lynette (University of California Davis) ;
Flenniken, Ann (Lunenfeld-Tanenbaum Research Institute. Sinai Health (Canada)) ;
Guo, Ruolin (The Hospital for Sick Children (Canada)) ;
Adams, David J. (Wellcome Trust Sanger Institute (Regne Unit)) ;
Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i de Teràpia Gènica (CBATEG)) ;
Braun, Robert E. (The Jackson Laboratory) ;
Brown, Steve D. M. (Medical Research Council Harwell Institute (UK)) ;
Chin, Hsian-Jean Genie (National Applied Research Laboratories. National Laboratory Animal Center (Taiwan)) ;
Dickinson, Mary E. (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Hsu, Chih-Wei (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Dobbie, Michael (The John Curtin School of Medical Research (Australia)) ;
Gao, Xiang (Nanjing University. Nanjing Biomedical Research Institute) ;
Galande, Sanjeev (Indian Institutes of Science Education and Research) ;
Grobler, Anne (PCDDP North-West University (South Africa)) ;
Heaney, Jason D. (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Herault, Yann (Université de Strasbourg. Institut de Génétique et de Biologie Moléculaire et Cellulaire) ;
De Angelis, Martin Hrabe (Helmholtz Zentrum München. Institute of Experimental Genetics) ;
Mammano, Fabio (Italian National Research Council (Italy)) ;
Nutter, Lauryl M. J. (The Hospital for Sick Children (Canada)) ;
Parkinson, Helen (European Bioinformatics Institute (UK)) ;
Qin, Chuan (National Laboratory Animal Center. National Applied Research Laboratories (China)) ;
Shiroishi, Toshi (RIKEN BioResource Center (Japan)) ;
Sedlacek, Radislav (Institute of Molecular Genetics of the Czech Academy of Sciences. Czech Center for Phenogenomics) ;
Seong, J-K (Seoul National University. Research Institute for Veterinary Science) ;
Xu, Ying (Soochow University. CAM-SU Genomic Resource Center) ;
Brooks, Brian (National Eye Institute. Ophthalmic Genetics and Visual Function Branch (USA)) ;
McKerlie, Colin (University of Toronto. Department of Laboratory Medicine & Pathobiology) ;
Lloyd, K. C. Kent (University of California Davis. Department of Surgery, School of Medicine) ;
Westerberg, Henrik (Medical Research Council Harwell Institute (UK)) ;
Moshiri, Ala (UC Davis Eye Center (USA))
Background: Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is known to be heritable in nature, with 80% of cases displaying loss-of-function mutations in the ocular developmental genes OTX2 or SOX2, the genetic abnormalities underlying the remaining cases of MAC are incompletely understood. [...]
2023 -  10.1186/s12915-022-01475-0
BMC biology, Vol. 21 (February 2023) , art. 22
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2.
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17 p, 6.0 MB |
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes
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Higgins, Kendall (The University of Miami Leonard M. Miller School of Medicine) ;
Moore, Bret A. (University of Florida. Department of Small Animal Clinical Sciences) ;
Berberovic, Zorana (Mount Sinai Hospital. Lunenfeld-Tanenbaum Research Institute) ;
Adissu, Hibret A. (Covance Inc) ;
Eskandarian, Mohammad (Mount Sinai Hospital. Lunenfeld-Tanenbaum Research Institute) ;
Flenniken, Ann M. (Mount Sinai Hospital. Lunenfeld-Tanenbaum Research Institute) ;
Shao, Andy (University of Reno. School of Medicine) ;
Imai, Denise M. (U.C. Davis. Comparative Pathology Laboratory) ;
Clary, Dave (U.C. Davis. Mouse Biology Program) ;
Lanoue, Louise (U.C. Davis. Mouse Biology Program) ;
Newbigging, Susan (Mount Sinai Hospital. Lunenfeld-Tanenbaum Research Institute) ;
Nutter, Lauryl M. J. (The Hospital for Sick Children) ;
Adams, David J. (Wellcome Trust Sanger Institute (Regne Unit)) ;
Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i de Teràpia Gènica (CBATEG)) ;
Braun, Robert E. (The Jackson Laboratory) ;
Brown, Steve D. M. (Medical Research Council Harwell Institute) ;
Dickinson, Mary E. (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Dobbie, Michael (The Australian National University. Phenomics Australia) ;
Flicek, Paul (European Bioinformatics Institute. European Molecular Biology Laboratory) ;
Gao, Xiang (Nanjing University. SKL of Pharmaceutical Biotechnology and Model Animal Research Center) ;
Galande, Sanjeev (Indian Institutes of Science Education and Research) ;
Grobler, Anne (PCDDP North-West University. Faculty of Health Sciences) ;
Heaney, Jason D. (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Herault, Yann (Université of Strasbourg. Institut Clinique de la Souris) ;
De Angelis, Martin Hrabe (German Research Center for Environmental Health. German Mouse Clinic) ;
Chin, Hsian-Jean Genie (National Laboratory Animal Center. National Applied Research Laboratories) ;
Mammano, Fabio (Institute of Cell Biology and Neurobiology. Monterotondo Mouse Clinic) ;
Qin, Chuan (Chinese Academy of Medical Science. Institute of Laboratory Animal Sciences) ;
Shiroishi, Toshihiko (RIKEN BioResource Center) ;
Sedlacek, Radislav (Institute of Molecular Genetics of the Czech Academy of Sciences. Czech Center for Phenogenomics) ;
Seong, J.-K. (Seoul National University. Korea Mouse Phenotyping Consortium) ;
Xu, Ying (Soochow University. CAM-SU Genomic Resource Center) ;
Lloyd, K. C. Kent (U.C. Davis. Department of Surgery, School of Medicine) ;
McKerlie, Colin (Hospital for Sick Children) ;
Moshiri, Ala (U.C. Davis Eye Center. Department of Ophthalmology and Vision Science, School of Medicine)
We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes. We first screened for phenotypes in mouse lines with both ocular and renal or reproductive trait abnormalities. [...]
2022 - 10.1038/s41598-022-19710-7
Scientific reports, Vol. 12 (december 2022)
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3.
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20 p, 1.6 MB |
Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome
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Illouz, Tomer (Bar-Ilan University) ;
Biragyn, Arya (National Institute on Aging, National Institute of Health, Baltimore) ;
Iulita, M. Florencia (Institut d'Investigació Biomèdica Sant Pau) ;
Flores-Aguilar, Lisi (McGill University) ;
Dierssen, Mara (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
De Toma, Ilario (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Antonarakis, Stylianos E. (iGE3 Institute of Genetics and Genomics of Geneva) ;
Yu, Eugene (State University of New York at Buffalo) ;
Herault, Yann (Université de Strasbourg) ;
Potier, Marie-Claude (Paris Brain Institute (ICM)) ;
Botté, Alexandra (Paris Brain Institute (ICM)) ;
Roper, Randall (Indiana University-Purdue University Indianapolis) ;
Sredni, Benjamin (Bar-Ilan University) ;
London, Jacqueline (Université de Paris) ;
Mobley, William (University of California, San Diego) ;
Strydom, Andre (South London and Maudsley NHS Foundation Trust) ;
Okun, Eitan (Bar-Ilan University) ;
Universitat Autònoma de Barcelona
The risk of severe outcomes following respiratory tract infections is significantly increased in individuals over 60 years, especially in those with chronic medical conditions, i. e. , hypertension, diabetes, cardiovascular disease, dementia, chronic respiratory disease, and cancer. [...]
2021 - 10.3389/fimmu.2021.621440
Frontiers in immunology, Vol. 12 (june 2021)
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4.
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2 p, 347.5 KB |
Correction to : Specific Susceptibility to COVID-19 in Adults with Down Syndrome
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Illouz, Tomer (Bar-Ilan University) ;
Biragyn, Arya (NIA. Laboratory of Molecular Biology and Immunology) ;
Frenkel-Morgenstern, Milana (Bar-Ilan University) ;
Weissberg, Orly (Bar-Ilan University) ;
Gorohovski, Alessandro (Bar-Ilan University) ;
Merzon, Eugene (Tel Aviv University) ;
Green, Ilan (Tel Aviv University) ;
Iulita, M. Florencia (Institut d'Investigació Biomèdica Sant Pau) ;
Flores-Aguilar, Lisi (McGill University) ;
Dierssen, Mara (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
De Toma, Ilario (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Lifshitz, Hefziba (Bar-Ilan University) ;
Antonarakis, Stylianos E. (iGE3 Institute of Genetics and Genomics of Geneva) ;
Yu, Eugene (State University of New York At Buffalo) ;
Herault, Yann (Université de Strasbourg) ;
Potier, Marie-Claude (Sorbonne Université) ;
Botté, Alexandra (Sorbonne Université) ;
Roper, Randall (Indiana University-Purdue University Indianapolis) ;
Sredni, Benjamin (Bar-Ilan University) ;
Sarid, Ronit (Sorbonne Université) ;
London, Jacqueline (Université de Paris) ;
Mobley, William (University of California) ;
Strydom, Andre (South London and Maudsley NHS Foundation Trust) ;
Okun, Eitan (Bar-Ilan University) ;
Universitat Autònoma de Barcelona
2021 - 10.1007/s12017-021-08695-7
Neuromolecular Medicine, may 2021, p. 1-2
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5.
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16 p, 2.3 MB |
Identification of genetic elements in metabolism by high-throughput mouse phenotyping
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Rozman, Jan (German Center for Diabetes Research) ;
Rathkolb, Birgit (Ludwig Maximilians Universität München. Institute of Molecular Animal Breeding and Biotechnology) ;
Oestereicher, Manuela A. (Helmholtz Zentrum München. Institute of Experimental Genetics) ;
Schütt, Christine (Helmholtz Zentrum München. Institute of Experimental Genetics) ;
Ravindranath, Aakash Chavan (Helmholtz Zentrum München. Institute of Bioinformatics and Systems Biology) ;
Leuchtenberger, Stefanie (Helmholtz Zentrum München. Institute of Experimental Genetics) ;
Sharma, Sapna (Helmholtz Zentrum München. Institute of Epidemiology II) ;
Kistler, Martin (Helmholtz Zentrum München. Institute of Experimental Genetics) ;
Willershäuser, Monja (Technical University of Munich. Institute for Food and Health) ;
Brommage, Robert (Helmholtz Zentrum München. Institute of Experimental Genetics) ;
Meehan, Terrence F. (European Bioinformatics Institute) ;
Mason, Jeremy (European Bioinformatics Institute) ;
Haselimashhadi, Hamed (European Bioinformatics Institute) ;
Hough, Tertius (Medical Research Council Harwell) ;
Mallon, Ann-Marie (Medical Research Council Harwell) ;
Wells, Sara (Medical Research Council Harwell) ;
Santos, Luis (Medical Research Council Harwell) ;
Lelliott, Christopher J. (Wellcome Trust Sanger Institute (Regne Unit)) ;
White, Jacqueline K. (The Jackson Laboratory) ;
Sorg, Tania (Université de Strasbourg) ;
Champy, Marie-France (Université de Strasbourg) ;
Bower, Lynette R. (University of California. Mouse Biology Program) ;
Reynolds, Corey L. (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Flenniken, Ann M. (Mount Sinai Hospital) ;
Murray, Stephen A. (The Jackson Laboratory) ;
Nutter, Lauryl M. J. (The Hospital for Sick Children) ;
Svenson, Karen L. (The Jackson Laboratory) ;
West, David (Children's Hospital Oakland Research Institute) ;
Tocchini-Valentini, Glauco P. (Monterotondo Mouse Clinic. Institute of Cell Biology and Neurobiology) ;
Beaudet, Arthur L. (The Hospital for Sick Children) ;
Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Braun, Robert B. (The Jackson Laboratory) ;
Dobbie, Michael S. (Australian National University) ;
Gao, Xiang (Nanjing University. Collaborative Innovation Center for Genetics and Development) ;
Herault, Yann (Université de Strasbourg) ;
Moshiri, Ala (School of Medicine U.C. Davis. Department of Ophthalmology and Vision Science) ;
Moore, Bret A. (School of Veterinary Medicine U.C. Davis) ;
Lloyd, Kent (University of California) ;
McKerlie, Colin (The Hospital for Sick Children) ;
Masuya, Hiroshi (RIKEN BioResource Center) ;
Tanaka, Nobuhiko (RIKEN BioResource Center) ;
Flicek, Paul (European Bioinformatics Institute) ;
Parkinson, Helen E. (European Bioinformatics Institute) ;
Sedlacek, Radislav (Institute of Molecular Genetics. Czech Centre for Phenogenomics) ;
Seong, Je Kyung (Seoul National University. College of Veterinary Medicine) ;
Wang, Chi-Kuang Leo (National Laboratory Animal Center) ;
Moore, Mark (International Mouse Phenotyping Consortium) ;
Brown, Steve D. M (Medical Research Council Harwell) ;
Tschöp, Matthias H. (Technische Universität München. Department of Medicine) ;
Wurst, Wolfgang (Ludwig Maximilians Universität München. Adolf Butenandt Institut) ;
Klingenspor, Martin (Technical University of Munich. Institute for Food & Health) ;
Wolf, Eckhard (Ludwig Maximilians Universität München. Institute of Molecular Animal Breeding and Biotechnology) ;
Beckers, Johannes (Technische Universität München. School of Life Science Weihenstephan) ;
Machicao, Fausto (University of Tübingen. Department of Internal Medicine) ;
Peter, Andreas (Eberhard Karls University of Tuebingen. Institute for Diabetes Research and Metabolic Diseases) ;
Staiger, Harald (Eberhard Karls University Tübingen. Department of Pharmacy and Biochemistry) ;
Häring, Hans-Ulrich (Eberhard Karls University of Tuebingen. Institute for Diabetes Research and Metabolic Diseases) ;
Grallert, Harald (Ludwig-Maximilians-Universität München) ;
Campillos, Monica (Helmholtz Zentrum München. Institute of Bioinformatics and Systems Biology) ;
Maier, Holger (Helmholtz Zentrum München. Institute of Experimental Genetics) ;
Fuchs, Helmut (Helmholtz Zentrum München. Institute of Experimental Genetics) ;
Gailus-Durner, Valerie (Helmholtz Zentrum München. Institute of Experimental Genetics) ;
Werner, Thomas (University of Michigan. Internal Medicine Nephrology and Center for Computational Medicine and Bioinformatics) ;
De Angelis, Martin Hrabe (Technische Universität München. School of Life Science Weihenstephan)
Metabolic diseases are a worldwide problem but the underlying genetic factors and their relevance to metabolic disease remain incompletely understood. Genome-wide research is needed to characterize so-far unannotated mammalian metabolic genes. [...]
2018 - 10.1038/s41467-017-01995-2
Nature communications, Vol. 9 (January 2018) , art. 288
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6.
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11 p, 935.0 KB |
Specific Susceptibility to COVID-19 in Adults with Down Syndrome
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Illouz, Tomer (Bar-Ilan University. The Paul Feder Laboratory On Alzheimer's Disease Research) ;
Biragyn, Arya (NIA. Laboratory of Molecular Biology and Immunology) ;
Frenkel-Morgenstern, Milana (Bar-Ilan University. Cancer Genomics and BioComputing of Complex Diseases Lab, Azrieli Faculty of Medicine) ;
Weissberg, Orly (Bar-Ilan University. Cancer Genomics and BioComputing of Complex Diseases Lab, Azrieli Faculty of Medicine) ;
Gorohovski, Alessandro (Bar-Ilan University. Cancer Genomics and BioComputing of Complex Diseases Lab, Azrieli Faculty of Medicine) ;
Merzon, Eugene (Tel Aviv University. Leumit Health Services, Department of Family Medicine, Sackler School of Medicine) ;
Green, Ilan (Tel Aviv University. Leumit Health Services, Department of Family Medicine, Sackler School of Medicine) ;
Iulita, M. Florencia (Institut d'Investigació Biomèdica Sant Pau) ;
Flores-Aguilar, Lisi (McGill University. Department of Anatomy and Cell Biology) ;
del Mar Dierssen Sotos, Maria (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
De Toma, Ilario (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Lifshitz, Hefziba (Bar-Ilan University. School of Education) ;
Antonarakis, Stylianos E. (iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland) ;
Yu, Eugene (State University of New York At Buffalo. Genetics, Genomics and Bioinformatics Program) ;
Herault, Yann (IGBMC-UMR. Université de Strasbourg, CNRS, INSERM, Institut de Génétique Biologie Moléculaire Et Cellulaire) ;
Potier, Marie-Claude (Sorbonne Université, Hôpital de La Pitié-Salpêtrière. Paris Brain Institute (ICM), CNRS UMR7225, INSERM U1127) ;
Botté, Alexandra (Sorbonne Université, Hôpital de La Pitié-Salpêtrière. Paris Brain Institute (ICM), CNRS UMR7225, INSERM U1127) ;
Roper, Randall (Indiana University-Purdue University Indianapolis. Department of Biology) ;
Sredni, Benjamin (Bar-Ilan University. The Mina and Everard Goodman Faculty of Life Sciences) ;
Sarid, Ronit (Bar-Ilan University. The Mina and Everard Goodman Faculty of Life Sciences) ;
London, Jacqueline (CNRS. Université de Paris, BFA, UMR 8251) ;
Mobley, William (University of California. Department of Neurosciences) ;
Strydom, Andre (South London and Maudsley NHS Foundation Trust) ;
Okun, Eitan (Bar-Ilan University. The Mina and Everard Goodman Faculty of Life Sciences) ;
Universitat Autònoma de Barcelona
The current SARS-CoV-2 outbreak, which causes COVID-19, is particularly devastating for individuals with chronic medical conditions, in particular those with Down Syndrome (DS) who often exhibit a higher prevalence of respiratory tract infections, immune dysregulation and potential complications. [...]
2021 - 10.1007/s12017-021-08651-5
Neuromolecular Medicine, march 2021, p. 1-11
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7.
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6 p, 595.1 KB |
The Deep Genome Project
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Lloyd, K. C. Kent (University of California. Department of Surgery) ;
Adams, David J. (Wellcome Trust Sanger Institute (Regne Unit)) ;
Baynam, Gareth (Curtin University. Faculty of Science and Engineering) ;
Beaudet, Arthur L. (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i de Teràpia Gènica (CBATEG)) ;
Boycott, Kym M. (University of Ottawa. Children's Hospital of Eastern Ontario Research Institute) ;
Braun, Robert E. (The Jackson Laboratory) ;
Caulfield, Mark (Queen Mary University of London. William Harvey Research Institute) ;
Cohn, Ronald (The Hospital for Sick Children) ;
Dickinson, Mary E. (Baylor College of Medicine. Departments of Molecular Physiology and Biophysics) ;
Dobbie, Michael S. (The Australian National University) ;
Flenniken, Ann M. (Lunenfeld-Tanenbaum Research Institute. The Centre for Phenogenomics) ;
Flicek, Paul (European Bioinformatics Institute) ;
Galande, Sanjeev (Indian Institute of Science, Education and Research. National Facility for Gene Function in Health and Disease) ;
Gao, Xiang (Nanjing University. SKL of Pharmaceutical Biotechnology and Model Animal Research Center) ;
Grobler, Anne (North-West University. Preclinical Drug Development Platform) ;
Heaney, Jason D. (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Herault, Yann (Institut de Génétique, Biologie Moléculaire et Cellulaire) ;
De Angelis, Martin Hrabe (German Center for Diabetes Research) ;
Lupski, James R. (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Lyonnet, Stanislas (Institut Imagine (Paris, França)) ;
Mallon, Ann-Marie (Mammalian Genetics Unit and Mary Lyon Centre. Medical Research Council Harwell Institute) ;
Mammano, Fabio (Institute of Biochemistry and Cell Biology. Italian National Research Council) ;
MacRae, Calum A. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ;
McInnes, Roderick (McGill University. Lady Davis Research Institute) ;
McKerlie, Colin (The Hospital for Sick Children) ;
Meehan, Terrence F. (European Bioinformatics Institute) ;
Murray, Stephen A. (The Jackson Laboratory) ;
Nutter, Lauryl M. J. (The Hospital for Sick Children) ;
Obata, Yuichi (BioResource Research Center) ;
Parkinson, Helen (Indian Institute of Science. National Facility for Gene Function in Health and Disease) ;
Pepper, Michael S. (University of Pretoria. Institute for Cellular and Molecular Medicine) ;
Sedlacek, Radislav (Czech Centre for Phenogenomics) ;
Seong, Je Kyung (Seoul National University. Korea Mouse Phenotyping Consortium) ;
Shiroishi, Toshihiko (BioResource Research Center) ;
Smedley, Damian (Queen Mary University of London) ;
Tocchini-Valentini, Glauco (Institute of Biochemistry and Cell Biology. Italian National Research Council) ;
Valle, David (The Johns Hopkins University School of Medicine. McKusick-Nathans Department of Genetic Medicine) ;
Wang, Chi-Kuang Leo (National Laboratory Animal Center. National Applied Research Laboratories) ;
Wells, Sara (Medical Research Council Harwell Institute) ;
White, Jacqueline (The Jackson Laboratory) ;
Wurst, Wolfgang (Ludwig Maximillian's Universitat Munchen. Deutsches Zentrum für Neurodegenerative Erkrankungen) ;
Xu, Ying (Medical College of Soochow University. Cambridge-Suda Genomic Resource Center) ;
Brown, Steve D. M. (Medical Research Council Harwell Institute)
2020 - 10.1186/s13059-020-1931-9
Genome biology, Vol. 21 (february 2020)
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