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Genome-wide screening reveals the genetic basis of mammalian embryonic eye development

Autor: Chee, J. M., Lanoue, L., Clary, D., Higgins, K., Bower, L., Flenniken, A., Guo, R., Adams, D. J., Bosch, F., Braun, R. E., Brown, S. D. M., Chin, H. J. G., Dickinson, M. E., Hsu, C. W., Dobbie, M., Gao, X., Galande, S., Grobler, A., Heaney, J. D., Herault, Y., de Angelis, M. H., Mammano, F., Nutter, L. M. J., Parkinson, H., Qin, C., Shiroishi, T., Sedlacek, R., Seong, J. K., Xu, Y., Ackert-Bicknell, C., Adams, D., Adoum, A. T., Aguilar-Pimentel, J. A., Akoma, U., Ali-Hadji, D., Amarie, O. V., André, P., Auburtin, A., Bam’Hamed, C., Beckers, J., Beig, J., Berberovic, Z., Bezginov, A., Birling, M. C., Boroviak, K., Bottomley, J., Bürger, A., Busch, D. H., Butterfield, N. C., Cacheiro, P., Calzada-Wack, J., Cambridge, E. L., Camilleri, S., Champy, M. F., Cater, H., Charles, P., Chesler, E. J., Cho, Y. L., Christiansen, A. E., Cipriani, V., Cockle, N., Codner, G., Creighton, A., Cruz, M., Curry, K. F., D’Souza, A., Danisment, O., Delbarre, D., Dewhurst, H. F., Doe, B., Dorr, A., Giesert, F., Duddy, G., Duffin, K., El Amri, A., Elrick, H., Eskandarian, M., Fray, M., Frost, A., Fuchs, H., Gailus-Durner, V., Gampe, K. K., Ganguly, M., Gannon, D., Garrett, L., Gertsenstein, M., Gleeson, D., Goodwin, L., Graw, J., Grimsrud, K., Haselimashhadi, H., Hobson, L., Hörlein, A., Hölter, S. M., Hong, S. H., Horner, N., Trainor, A. G., Huang, Z., Kane, C., Katsman, Y.

Publikováno v: BMC Biology. 21

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 na

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9ff3b28f8cd1d8878613ce4e0623d60
https://doi.org/10.1186/s12915-022-01475-0

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Autor: Lorés de Motta, Laura, Cipriani, V., He, F., Fathalla, D., McHarg, S., Bayatti, N., Acar, I.E., Hoyng, C.C.B., Fauser, S., Moore, A., Yates, J.R.W., Morgan, P., de Jong, E.K., den Hollander, A.I., Bishop, P.N., Clark, S.J.

Publikováno v: 7th International Symposium on AMD: Age-related Macular Degeneration-Understanding Pathogenetic Mechanisms of Disease; 20190920-20190921; Baden-Baden; DOC19amd16 /20200205/

Background: Age-related macular degeneration (AMD) is a leading cause of blindness. Genetic studies reported strong associations at the CFH locus, with 8 independent signals across KCNT2, CFH, and CFHR1-5. How these variants impact protein expression

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e9c9937f5d985140196aad7af678e24
http://nbn-resolving.de/urn:nbn:de:0183-19amd167

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