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Your search keyword '"Vázquez-Domínguez, Irene"' showing total 9 results
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9 results on '"Vázquez-Domínguez, Irene"'

4. The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Author

Vázquez-Domínguez, Irene, primary, Duijkers, Lonneke, additional, Fadaie, Zeinab, additional, Alaerds, Eef C. W., additional, Post, Merel A., additional, van Oosten, Edwin M., additional, O’Gorman, Luke, additional, Kwint, Michael, additional, Koolen, Louet, additional, Hoogendoorn, Anita D. M., additional, Kroes, Hester Y., additional, Gilissen, Christian, additional, Cremers, Frans P. M., additional, Collin, Rob W. J., additional, Roosing, Susanne, additional, and Garanto, Alejandro, additional

Published
2022
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5. Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene

Author

de Jong, Sarah, primary, Koolen, Louet, additional, Vázquez-Domínguez, Irene, additional, de Breuk, Anita, additional, Albert, Silvia, additional, Hoyng, Carel B., additional, Katti, Suresh, additional, den Hollander, Anneke I., additional, and Garanto, Alejandro, additional

Published
2022
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7. The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.

Author

Genetica Klinische Genetica, Child Health, Vázquez-Domínguez, Irene, Duijkers, Lonneke, Fadaie, Zeinab, Alaerds, Eef C W, Post, Merel A, van Oosten, Edwin M, O'Gorman, Luke, Kwint, Michael, Koolen, Louet, Hoogendoorn, Anita D M, Kroes, Hester Y, Gilissen, Christian, Cremers, Frans P M, Collin, Rob W J, Roosing, Susanne, Garanto, Alejandro, Genetica Klinische Genetica, Child Health, Vázquez-Domínguez, Irene, Duijkers, Lonneke, Fadaie, Zeinab, Alaerds, Eef C W, Post, Merel A, van Oosten, Edwin M, O'Gorman, Luke, Kwint, Michael, Koolen, Louet, Hoogendoorn, Anita D M, Kroes, Hester Y, Gilissen, Christian, Cremers, Frans P M, Collin, Rob W J, Roosing, Susanne, and Garanto, Alejandro

Published
2022

9. Considerations for Generating Humanized Mouse Models to Test Efficacy of Antisense Oligonucleotides.

Author

Vázquez-Domínguez I and Garanto A

Subjects
Animals, Disease Models, Animal, Mice, Rats, Oligonucleotides, Antisense genetics
Abstract

Over the last decades, animal models have become increasingly important in therapeutic drug development and assessment. The use of these models, mainly mice and rats, allow evaluating drugs in the real-organism environment and context. However, several molecular therapeutic approaches are sequence-dependent, and therefore, the humanization of such models is required to assess the efficacy. The generation of genetically modified humanized mouse models is often an expensive and laborious process that may not always recapitulate the human molecular and/or physiological phenotype. In this chapter, we summarize basic aspects to consider before designing and generating humanized models, especially when they are aimed to test antisense-based therapies., (© 2022. The Author(s).)

Published
2022
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