Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Imre F. Schene"'
Autor:
Arif Ibrahim Ardisasmita, Imre F. Schene, Indi P. Joore, Gautam Kok, Delilah Hendriks, Benedetta Artegiani, Michal Mokry, Edward E. S. Nieuwenhuis, Sabine A. Fuchs
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)
A systematic comparison of transcriptomes across different hepatocyte models provides a valuable resource to determine the most suitable model for a particular application or research question.
Externí odkaz:
https://doaj.org/article/403bc2d40d484beeaa9b734f875b3b5d
Autor:
Monique M. A. Verstegen, Floris J. M. Roos, Ksenia Burka, Helmuth Gehart, Myrthe Jager, Maaike de Wolf, Marcel J. C. Bijvelds, Hugo R. de Jonge, Arif I. Ardisasmita, Nick A. van Huizen, Henk P. Roest, Jeroen de Jonge, Michael Koch, Francesco Pampaloni, Sabine A. Fuchs, Imre F. Schene, Theo M. Luider, Hubert P. J. van der Doef, Frank A. J. A. Bodewes, Ruben H. J. de Kleine, Bart Spee, Gert-Jan Kremers, Hans Clevers, Jan N. M. IJzermans, Edwin Cuppen, Luc J. W. van der Laan
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-16 (2020)
Abstract The development, homeostasis, and repair of intrahepatic and extrahepatic bile ducts are thought to involve distinct mechanisms including proliferation and maturation of cholangiocyte and progenitor cells. This study aimed to characterize hu
Externí odkaz:
https://doaj.org/article/eb9e7d98f7234f40b94f21db6d99f8db
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
Autor:
Irena J.J. Muffels, Imre F. Schene, Holger Rehmann, Maarten P.G. Massink, Maria M. van der Wal, Corinna Bauder, Martha Labeur, Natalia G. Armando, Maarten H. Lequin, Michiel L. Houben, Jaques C. Giltay, Saskia Haitjema, Albert Huisman, Fleur Vansenne, Judith Bluvstein, John Pappas, Lala V. Shailee, Yuri A. Zarate, Michal Mokry, Gijs W. van Haaften, Edward E.S. Nieuwenhuis, Damian Refojo, Femke van Wijk, Sabine A. Fuchs, Peter M. van Hasselt
Publikováno v:
Am. J. Hum. Genet. 110, 146-160 (2023)
Am J Hum Genet
Am J Hum Genet
Neddylation has been implicated in various cellular pathways and in the pathophysiology of numerous diseases. We identified four individuals with bi-allelic variants in NAE1, which encodes the neddylation E1 enzyme. Pathogenicity was supported by dec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c527b80bc5f1809a16c16e4c32929181
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=67154
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=67154
Autor:
Monique E. Dijsselhof, Tom J. de Koning, Laura A. Tseng, Edward E. S. Nieuwenhuis, Elise A. Ferreira, Rachel Kassel, Margreet van den Born, Holger Rehmann, Sabine A. Fuchs, Gautam Kok, Imre F. Schene, Marie Canton, Suzanne W J Terheggen-Lagro, Arnaud Wiedemann, Joy Dean, Desiree E.C. Smith, Megan Boothe, Clara D.M. van Karnebeek, Gajja Salomons, François Feillet, Marisa I. Mendes
Publikováno v:
Genetics in Medicine
Genetics in medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Kok, G, Tseng, L, Schene, I F, Dijsselhof, M E, Salomons, G, Mendes, M I, Smith, D E C, Wiedemann, A, Canton, M, Feillet, F, de Koning, T J, Boothe, M, Dean, J, Kassel, R, Ferreira, E A, van den Born, M, Nieuwenhuis, E E S, Rehmann, H, Terheggen-Lagro, S W J, van Karnebeek, C D M & Fuchs, S A 2021, ' Treatment of ARS deficiencies with specific amino acids ', Genetics in Medicine, vol. 23, no. 11, pp. 2202-2207 . https://doi.org/10.1038/s41436-021-01249-z
Genetics in Medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2202-2207. Nature Publishing Group
Genetics in medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Kok, G, Tseng, L, Schene, I F, Dijsselhof, M E, Salomons, G, Mendes, M I, Smith, D E C, Wiedemann, A, Canton, M, Feillet, F, de Koning, T J, Boothe, M, Dean, J, Kassel, R, Ferreira, E A, van den Born, M, Nieuwenhuis, E E S, Rehmann, H, Terheggen-Lagro, S W J, van Karnebeek, C D M & Fuchs, S A 2021, ' Treatment of ARS deficiencies with specific amino acids ', Genetics in Medicine, vol. 23, no. 11, pp. 2202-2207 . https://doi.org/10.1038/s41436-021-01249-z
Genetics in Medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2202-2207. Nature Publishing Group
Purpose: Recessive cytosolic aminoacyl-tRNA synthetase (ARS) deficiencies are severe multiorgan diseases, with limited treatment options. By loading transfer RNAs (tRNAs) with their cognate amino acids, ARS are essential for protein translation. Howe
Autor:
Sabine A. Fuchs, Judith Klumperman, Bart Spee, Judith J.M. Jans, Nalan Liv, Henkjan J. Verkade, Hubert P. J. van der Doef, Peter M. van Hasselt, Vivian Lehmann, Edward E. S. Nieuwenhuis, Luc J. W. van der Laan, Imre F. Schene, Tineke Veenendaal, Nanda M. Verhoeven-Duif, Monique M A Verstegen, Arif I Ardisasmita
Publikováno v:
Journal of Inherited Metabolic Disease, 45(2), 353-365. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(2). SPRINGER
Journal of Inherited Metabolic Disease, 45(2). SPRINGER
Inborn errors of metabolism (IEMs) comprise a diverse group of individually rare monogenic disorders that affect metabolic pathways. Mutations lead to enzymatic deficiency or dysfunction, which results in intermediate metabolite accumulation or defic
Autor:
Indi P. Joore, Rurika Oka, Peter M. van Hasselt, Edward E. S. Nieuwenhuis, Hubert P. J. van der Doef, Ruben van Boxtel, Monique M A Verstegen, Anke H.M. van Vugt, Michal Mokry, Sabine A. Fuchs, Imre F. Schene, Luc J. W. van der Laan
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
Nature Communications, 11(1):5352. Nature Publishing Group
Nature Communications
Nature Communications, 11(1):5352, 1-8. Nature Publishing Group
Nature Communications, 11(1):5352. Nature Publishing Group
Nature Communications
Nature Communications, 11(1):5352, 1-8. Nature Publishing Group
Prime editing is a recent genome editing technology using fusion proteins of Cas9-nickase and reverse transcriptase, that holds promise to correct the vast majority of genetic defects. Here, we develop prime editing for primary adult stem cells grown
Autor:
Ruby Lieshout, Chen Chen, Natalia Sánchez-Romero, Kerstin Schneeberger, Iris Pla Palacin, Louis C. Penning, Joery De Kock, Hans Clevers, Sabine A. Fuchs, Bart Spee, Monique E van Wolferen, Loes A Oosterhoff, Haaike Colemonts-Vroninks, Imre F. Schene, Ruurdtje Hoekstra, Pedro M. Baptista, Shicheng Ye, Luc J. W. van der Laan, Monique M A Verstegen, Gilles S van Tienderen, Frank G. van Steenbeek
Publikováno v:
Hepatology, 72(1), 257-270. John Wiley & Sons Ltd.
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Hepatology (Baltimore, Md.)
Hepatology
Hepatology. American Association for the Study of Liver Diseases (AASLD)
Hepatology (Baltimore, Md.), 72(1), 257-270. John Wiley and Sons Ltd
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Hepatology (Baltimore, Md.)
Hepatology
Hepatology. American Association for the Study of Liver Diseases (AASLD)
Hepatology (Baltimore, Md.), 72(1), 257-270. John Wiley and Sons Ltd
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Background and Aims: The gap between patients on transplant waiting lists and available donor organs is steadily increasing. Human organoids derived from leucine-rich repeat-containing G protein-coupled receptor 5 (LGR5)–positive adult stem cells r
Autor:
Irina A. Pikuleva, Monique G.M. de Sain-van der Velden, Erik Koomen, Imre F. Schene, Maria van der Ham, Sabine A. Fuchs, Joep L A Claesen, Judith J.M. Jans, Natalia Mast
Publikováno v:
Journal of Inherited Metabolic Disease
Background Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder, characterised by chronic diarrhoea, xanthomas, cataracts, and neurological deterioration. CTX is caused by CYP27A1 deficiency, which leads to abnormal cholesterol and bile ac
Autor:
Dian Bolhuis, Remi Stevelink, Eveline Ilcken, Rosalie van Rees, Edward E. S. Nieuwenhuis, Sabine A. Fuchs, Hubert P. J. van der Doef, Sawsan Shehata, Imre F. Schene, Jan Baijens, Indi P. Joore, Jeffrey M. Beekman, Roderick H. J. Houwen, Gautam Kok, Sacha Spelier
Prime editing is a versatile genome-editing technique. However, some genomic sites remain difficult to edit and optimal design of prime-editing tools is elusive. We present a fluorescent prime editing and enrichment reporter (fluoPEER), which can be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7203ea9e76a7bf9888556854b7e5e6f6
https://doi.org/10.21203/rs.3.rs-563512/v1
https://doi.org/10.21203/rs.3.rs-563512/v1