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Resultats globals: 3 registres trobats en 0.03 segons.
Articles, 3 registres trobats
Articles 3 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.
17 p, 6.0 MB Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes / 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)  
Registre complet - Creative Commons
3.
6 p, 595.1 KB The Deep Genome Project / 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)  
Registre complet - Creative Commons

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