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Articles 2 registres trobats  
1.
15 p, 2.1 MB Genome-wide screening reveals the genetic basis of mammalian embryonic eye development / 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  
Registre complet - Creative Commons
2.
16 p, 2.3 MB Identification of genetic elements in metabolism by high-throughput mouse phenotyping / 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  
Registre complet - Creative Commons

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