Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Autor: Stijn L.M. in ’t Groen, Douglas O.S. de Faria, Alessandro Iuliano, Johanna M.P. van den Hout, Hannie Douben, Trijnie Dijkhuizen, David Cassiman, Peter Witters, Miguel-Ángel Barba Romero, Annelies de Klein, Galhana M. Somers-Bolman, Jasper J. Saris, Lies H. Hoefsloot, Ans T. van der Ploeg, Atze J. Bergsma, W.W.M. Pim Pijnappel

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 337-348 (2020)

Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated vari

Externí odkaz: https://doaj.org/article/e6495002c7f2473f996cb5f819b48be9

Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation

Autor: Celine E.F. de Esch, Mehrnaz Ghazvini, Friedemann Loos, Nune Schelling-Kazaryan, W. Widagdo, Shashini T. Munshi, Erik van der Wal, Hannie Douben, Nilhan Gunhanlar, Steven A. Kushner, W.W.M. Pim Pijnappel, Femke M.S. de Vrij, Niels Geijsen, Joost Gribnau, Rob Willemsen

Publikováno v: Stem Cell Reports, Vol 3, Iss 4, Pp 548-555 (2014)

Silencing of the FMR1 gene leads to fragile X syndrome, the most common cause of inherited intellectual disability. To study the epigenetic modifications of the FMR1 gene during silencing in time, we used fibroblasts and induced pluripotent stem cell

Externí odkaz: https://doaj.org/article/4bc398bc60f04d64abcc5a91b2acd30d

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

Autor: Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel-Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine M.A. van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L.T. van der Sterre, Farah Sadeghi Niaraki, Daphne J. Smits, Hidde H. Huidekoper, Monique Williams, Martina Wilke, Virginie J.M. Verhoeven, Marieke Joosten, Anneke J.A. Kievit, Ingrid M.B.H. van de Laar, Lies H. Hoefsloot, Marianne Hoogeveen-Westerveld, Mark Nellist, Grazia M.S. Mancini, Tjakko J. van Ham

Publikováno v: American Journal of Human Genetics, 110(2), 251-272. Cell Press

For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a genetic diagnosis in NDDs. Transcriptome analysis (RNA sequencing [RNA-seq])

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e91c5b19bb7b0e62a630a2aed65e87
https://doi.org/10.1016/j.ajhg.2022.12.015

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Autor: Alessandro Iuliano, Johanna M. P. Van den Hout, Stijn L.M. in 't Groen, Lies H. Hoefsloot, W.W.M. Pim Pijnappel, David Cassiman, Hannie Douben, Ans T. van der Ploeg, Atze J. Bergsma, Jasper J. Saris, Galhana M. Somers-Bolman, Miguel-Ángel Barba Romero, Douglas O. S. de Faria, Peter Witters, T. Dijkhuizen, Annelies de Klein

Publikováno v: Molecular Therapy-Methods and Clinical Development, 17, 337-348. Cell Press
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 337-348 (2020)
Molecular therapy-Methods & clinical development, 17, 337-348. CELL PRESS

Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated vari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ecb78b1b70d26d2f28c85fc9157510
https://research.rug.nl/en/publications/02aef7b6-9cb2-463a-9307-f5565e370da8

Aging of bone marrow- and umbilical cord-derived mesenchymal stromal cells during expansion

Autor: Hannie Douben, Annelies de Klein, Martin J. Hoogduijn, Tanja Strini, Philip N. Newsome, Eleonora E. Lambert, Carla C. Baan, Samantha F.H. de Witte, Steve J. Elliman, Ana Merino, Lisa O'Flynn

Publikováno v: Cytotherapy, 19(7), 798-807. Informa Healthcare
de Witte, S F H, Lambert, E E, Merino, A, Strini, T, Douben, H J C W, O'Flynn, L, Elliman, S J, de Klein, A J E M M, Newsome, P N, Baan, C C & Hoogduijn, M J 2017, ' Aging of bone marrow– and umbilical cord–derived mesenchymal stromal cells during expansion ', Cytotherapy, vol. 19, no. 7, pp. 798-807 . https://doi.org/10.1016/j.jcyt.2017.03.071
Cytotherapy, 19(7), 798-807. Elsevier Inc.

Background aims Mesenchymal stromal cells (MSCs) are used as experimental immunotherapy. Extensive culture expansion is necessary to obtain clinically relevant cell numbers, although the impact on MSCs stability and function is unclear. This study in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c58d456013e0bd2eecb183d5512650c
https://doi.org/10.1016/j.jcyt.2017.03.071