Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Jim Swildens"'
Autor:
Melita Kaltak, Petra de Bruijn, Willemijn van Leeuwen, Gerard Platenburg, Frans P. M. Cremers, Rob W. J. Collin, Jim Swildens
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Stargardt disease type 1 (STGD1), the most common form of hereditary macular dystrophy, can be caused by biallelic combinations of over 2200 variants in the ABCA4 gene. This leads to reduced or absent ABCA4 protein activity, resulting in tox
Externí odkaz:
https://doaj.org/article/60dfc9994f29491fbe23cd17aa346c9d
Autor:
Melita Kaltak, Rocio Blanco-Garavito, Laurie L. Molday, Claire-Marie Dhaenens, Eric E. Souied, Gerard Platenburg, Jim Swildens, Robert S. Molday, Frans P. M. Cremers
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-15 (2023)
Abstract Background ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. The impact of in-frame exon skipping is yet to be determined. Antisense oligonucleotides (AONs) have b
Externí odkaz:
https://doaj.org/article/cddd2e0c77e44ce5a473e43acb5cf400
Autor:
Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard Platenburg, Jim Swildens
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 31, Iss , Pp 674-688 (2023)
Stargardt disease type 1 (STGD1) is the most common hereditary form of maculopathy and remains untreatable. STGD1 is caused by biallelic variants in the ABCA4 gene, which encodes the ATP-binding cassette (type 4) protein (ABCA4) that clears toxic byp
Externí odkaz:
https://doaj.org/article/40b153ac34224120aa4a8a2cd3c85817
Autor:
Wouter Beumer, Jim Swildens, Teresinha Leal, Sabrina Noel, Herma Anthonijsz, Geert van der Horst, Hester Kuiperij-Boersma, Marko Potman, Charlotte van Putten, Patricia Biasutto, Gerard Platenburg, Hugo de Jonge, Noreen Henig, Tita Ritsema
Publikováno v:
PLoS ONE, Vol 14, Iss 6, p e0219182 (2019)
Cystic fibrosis (CF) is caused by mutations in the gene encoding the epithelial chloride channel CF transmembrane conductance regulator (CFTR) protein. The most common mutation is a deletion of three nucleotides leading to the loss of phenylalanine a
Externí odkaz:
https://doaj.org/article/998648464a6246f1ba96ae9e7ad7986f
Publikováno v:
Iranian Journal of Basic Medical Sciences, Vol 16, Iss 7, Pp 813-821 (2013)
Objective(s): Adeno-associated virus type 2 (AAV2) vectors are widely used for both experimental and clinical gene therapy. A recent research has shown that the performance of these vectors can be greatly improved by substitution of specific surface-
Externí odkaz:
https://doaj.org/article/4fe96c3f58cc4b88a45bafc9e8d8f6ad
Autor:
Arti A Ramkisoensing, Daniël A Pijnappels, Saïd F A Askar, Robert Passier, Jim Swildens, Marie José Goumans, Cindy I Schutte, Antoine A F de Vries, Sicco Scherjon, Christine L Mummery, Martin J Schalij, Douwe E Atsma
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e24164 (2011)
Mesenchymal stem cells (MSCs) show unexplained differences in differentiation potential. In this study, differentiation of human (h) MSCs derived from embryonic, fetal and adult sources toward cardiomyocytes, endothelial and smooth muscle cells was i
Externí odkaz:
https://doaj.org/article/c6ee5c629f21467ba02a67d6dd875c9c
Autor:
Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard Platenburg, Jim Swildens
The c.5461-10T>C p.[Thr1821Aspfs*6,Thr1821Valfs*13] variant has been identified as the most common severe Stargardt disease type 1 (STGD1)-associated variant in ABCA4. STGD1 is the most recurrent hereditary form of maculopathy and so far, no treatmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a242d1e2c65466724a63f4654c95a121
https://doi.org/10.1101/2022.08.12.503728
https://doi.org/10.1101/2022.08.12.503728
Autor:
Verena Wally, Douglas R. Keene, M. Peter Marinkovich, Sara F. Tufa, Eva M. Murauer, Elisabeth M. Haisma, Alexander Nyström, Ulrich Koller, Dimitra Kiritsi, Pauline Nauroy, Marieke Hogervorst, Olivier Bornert, Stefan Hainzl, Gerard Platenburg, Ingrid Hausser, Tita Ritsema, Ioannis Athanasiou, Jim Swildens, Johannes Bischof
Publikováno v:
The Journal of investigative dermatology. 141(4)
Dystrophic epidermolysis bullosa (DEB) is a blistering skin disease caused by mutations in the gene COL7A1 encoding collagen VII. DEB can be inherited as recessive DEB (RDEB) or dominant DEB (DDEB) and is associated with a high wound burden. Perpetua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf86473d755768081844e5cb869d787
https://pubmed.ncbi.nlm.nih.gov/32946877
https://pubmed.ncbi.nlm.nih.gov/32946877
Autor:
Gerard Platenburg, Noreen Henig, Patricia Biasutto, Jim Swildens, Hugo R. de Jonge, Charlotte van Putten, Geert van der Horst, Sabrina Noël, Hester Kuiperij-Boersma, Teresinha Leal, Herma Anthonijsz, Tita Ritsema, Wouter Beumer, Marko Potman
Publikováno v:
PLoS ONE
PLoS One (print), 14(6):e0219182. Public Library of Science
PLoS ONE, Vol 14, Iss 6, p e0219182 (2019)
PLoS One (print), 14(6):e0219182. Public Library of Science
PLoS ONE, Vol 14, Iss 6, p e0219182 (2019)
Cystic fibrosis (CF) is caused by mutations in the gene encoding the epithelial chloride channel CF transmembrane conductance regulator (CFTR) protein. The most common mutation is a deletion of three nucleotides leading to the loss of phenylalanine a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97cf136844677fa84a415b3c9534a8ad
https://doi.org/10.1371/journal.pone.0219182
https://doi.org/10.1371/journal.pone.0219182
Autor:
Douglas R. Keene, C. Oort, I. Haisma, M.P. Marinkovich, Tita Ritsema, M. Hogervorst, Jim Swildens, M. van Berkel
Publikováno v:
Journal of Investigative Dermatology. 139:S64
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffee1ce9bab66a8d1012c04e34d3a223
https://doi.org/10.1016/j.jid.2019.03.447
https://doi.org/10.1016/j.jid.2019.03.447