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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 - DOI (Digital Object Identifier)

10.1186/s12915-022-01475-0
BMC biology, Vol. 21 (February 2023) , art. 22

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