Zobrazeno 1 - 6 of 6 pro vyhledávání: '"Anke H. M. Van Vugt"'
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Akademický článek
Prime editing for functional repair in patient-derived disease models
Autor: Imre F. Schene, Indi P. Joore, Rurika Oka, Michal Mokry, Anke H. M. van Vugt, Ruben van Boxtel, Hubert P. J. van der Doef, Luc J. W. van der Laan, Monique M. A. Verstegen, Peter M. van Hasselt, Edward E. S. Nieuwenhuis, Sabine A. Fuchs
Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
Prime editing uses Cas9 nickase fused to a reverse transcriptase to edit genetic information. Here, the authors prime edit primary adult stem cells in 3D organoid cultures to show functional correction of pathogenic mutations without genome-wide off-
Externí odkaz: https://doaj.org/article/0ba02ae845834a578eb870a005592a64
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2
A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations
Autor: Kelly F. Meijsen, Hugo R. de Jonge, Antje Ballauff, Anke H M van Vugt, Roderick H. J. Houwen, Manuel B Bryant, Thomas Müller, Sabine Middendorp, Tanja Restin, Marcel J. C. Bijvelds, Andreas R. Janecke, Bart G. P. Koot
Publikováno v: Clinical and Translational Gastroenterology, 12(11):e00427. Nature Publishing Group
van Vugt, A H M, Bijvelds, M J C, de Jonge, H R, Meijsen, K F, Restin, T, Bryant, M B, Ballauff, A, Koot, B, Müller, T, Houwen, R H J, Janecke, A R & Middendorp, S 2021, ' A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations ', CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY, vol. 12, no. 11, pp. e00427 . https://doi.org/10.14309/ctg.0000000000000427
Clinical and translational gastroenterology, 12(11). Nature Publishing Group
Clinical and Translational Gastroenterology
CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY, 12(11). Nature Publishing Group
INTRODUCTION: Gain-of-function mutations in guanylyl cyclase C (GCC) result in persistent diarrhea with perinatal onset. We investigated a specific GCC inhibitor, SSP2518, for its potential to treat this disorder. METHODS: We investigated the effect
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d3192ebcfb634acea304772d3b318e
https://pure.eur.nl/en/publications/476a3967-0cd2-4270-92cc-95c7bcb17260
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3
Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus11The authors have no proprietary interest in any of the materials used in this study
Autor: Alfred J. L. G. Pinckers, J.J.M. Janssen, H.J. Winkens, August F. Deutman, B. P. M. Janssen, C.A.G.G. Driessen, Anke H. M. Van Vugt, Leonoor D. Kuhlmann
Publikováno v: Ophthalmology. 108:1479-1484
Purpose Recent studies show that mutations in the gene encoding 11- cis retinol dehydrogenase are associated with fundus albipunctatus. The authors wanted to investigate whether additional, more severe, mutations in the 11- cis retinol dehydrogenase
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1e07ee6cb22950f9993919810f906477
https://doi.org/10.1016/s0161-6420(01)00640-6
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4
Retinoic acid delays transcription of human retinal pigment neuroepithelium marker genes in ARPE-19 cells
Autor: Jacques J. M. Janssen, Eleonoor D. Kuhlmann, Anke H. M. van Vugt, Huub J. Winkens, Bert P. M. Janssen, August F. Deutman, Carola A. G. G. Driessen
Publikováno v: NeuroReport. 11:1571-1579
Meditation is a conscious mental process that induces a set of integrated physiologic changes termed the relaxation response. Functional magnetic resonance imaging (fMRI) was used to identify and characterize the brain regions that are active during
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::caa12a5810c6f59db8a40c0b388dcfbf
https://doi.org/10.1097/00001756-200005150-00041
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5
Disruption of the 11-cis-Retinol Dehydrogenase gene leads to accumulation of cis-retinols and cis-retinyl esters
Autor: August F. Deutman, Leonoor D. Kuhlmann, Kirstin Hoffmann, J. Preston Van Hooser, C.A.G.G. Driessen, Klaus Ruether, B. P. M. Janssen, Krzysztof Palczewski, J.J.M. Janssen, H.J. Winkens, Anke H. M. Van Vugt, Bé Wieringa
Publikováno v: Molecular and Cellular Biology, 20, pp. 4275-4287
Molecular and Cellular Biology, 20, 4275-4287
To elucidate the possible role of 11-cis-retinol dehydrogenase in the visual cycle and/or 9-cis-retinoic acid biosynthesis, we generated mice carrying a targeted disruption of the 11-cis-retinol dehydrogenase gene. Homozygous 11-cis-retinol dehydroge
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0c2f63629ce7fffa85a03ab41f6d50b
https://doi.org/10.1128/MCB.20.12.4275-4287.2000
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