Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Rob W. J. Collin"'
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:
Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin
Publikováno v:
Cells, Vol 13, Iss 7, p 601 (2024)
Precision medicine is rapidly gaining recognition in the field of (ultra)rare conditions, where only a few individuals in the world are affected. Clinical trial design for a small number of patients is extremely challenging, and for this reason, the
Externí odkaz:
https://doaj.org/article/78195cd5174e462d99f4bd1b2718bd4e
Autor:
Siebren Faber, Stef J. F. Letteboer, Katrin Junger, Rossano Butcher, Trinadh V. Satish Tammana, Sylvia E. C. van Beersum, Marius Ueffing, Rob W. J. Collin, Qin Liu, Karsten Boldt, Ronald Roepman
Publikováno v:
Cells, Vol 12, Iss 2, p 312 (2023)
Mutations in PDE6D impair the function of its cognate protein, phosphodiesterase 6D (PDE6D), in prenylated protein trafficking towards the ciliary membrane, causing the human ciliopathy Joubert Syndrome (JBTS22) and retinal degeneration in mice. In t
Externí odkaz:
https://doaj.org/article/12a6f3da617b4ffea1586043b075c872
Autor:
Tomasz Z. Tomkiewicz, Sara E. Nieuwenhuis, Frans P. M. Cremers, Alejandro Garanto, Rob W. J. Collin
Publikováno v:
Cells, Vol 11, Iss 24, p 3947 (2022)
Stargardt disease is an inherited retinal disease caused by biallelic mutations in the ABCA4 gene, many of which affect ABCA4 splicing. In this study, nine antisense oligonucleotides (AONs) were designed to correct pseudoexon (PE) inclusion caused by
Externí odkaz:
https://doaj.org/article/d332dd9035664406962ab8615069c299
Autor:
Irene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, Eef C. W. Alaerds, Merel A. Post, Edwin M. van Oosten, Luke O’Gorman, Michael Kwint, Louet Koolen, Anita D. M. Hoogendoorn, Hester Y. Kroes, Christian Gilissen, Frans P. M. Cremers, Rob W. J. Collin, Susanne Roosing, Alejandro Garanto
Publikováno v:
Cells, Vol 11, Iss 22, p 3640 (2022)
Pathogenic variants in RPE65 lead to retinal diseases, causing a vision impairment. In this work, we investigated the pathomechanism behind the frequent RPE65 variant, c.11+5G>A. Previous in silico predictions classified this change as a splice varia
Externí odkaz:
https://doaj.org/article/7ee75d27cc704aa096038f239dd31708
Autor:
Renske Schellens, Erik de Vrieze, Pam Graave, Sanne Broekman, Kerstin Nagel-Wolfrum, Theo Peters, Hannie Kremer, Rob W. J. Collin, Erwin van Wijk
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 17, p 9154 (2021)
Retinitis pigmentosa (RP) is an inherited retinal disease (IRD) with an overall prevalence of 1 in 4000 individuals. Mutations in EYS (Eyes shut homolog) are among the most frequent causes of non-syndromic autosomal recessively inherited RP and act v
Externí odkaz:
https://doaj.org/article/4c5d3a9fb24242c7a177ed74f4aa17d4
Autor:
Tomasz Z. Tomkiewicz, Nuria Suárez-Herrera, Frans P. M. Cremers, Rob W. J. Collin, Alejandro Garanto
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4621 (2021)
The discovery of novel intronic variants in the ABCA4 locus has contributed significantly to solving the missing heritability in Stargardt disease (STGD1). The increasing number of variants affecting pre-mRNA splicing makes ABCA4 a suitable candidate
Externí odkaz:
https://doaj.org/article/6e56ce1ab7b94695bd7b1a303fc4577b
Publikováno v:
International Journal of Molecular Sciences, Vol 16, Iss 3, Pp 5285-5298 (2015)
A mutation in intron 26 of CEP290 (c.2991+1655A>G) is the most common genetic cause of Leber congenital amaurosis (LCA), a severe type of inherited retinal degeneration. This mutation creates a cryptic splice donor site, resulting in the insertion of
Externí odkaz:
https://doaj.org/article/f6c175dc5a1242af8345003d26993deb
Autor:
Lonneke Duijkers, L. Ingeborgh van den Born, John Neidhardt, Nathalie M. Bax, Laurence H. M. Pierrache, B. Jeroen Klevering, Rob W. J. Collin, Alejandro Garanto
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 3, p 753 (2018)
Leber congenital amaurosis (LCA) is a rare inherited retinal disorder affecting approximately 1:50,000 people worldwide. So far, mutations in 25 genes have been associated with LCA, with CEP290 (encoding the Centrosomal protein of 290 kDa) being the
Externí odkaz:
https://doaj.org/article/8d80f24ec5974e748441c6ca667991ee
PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion
Publikováno v:
Human Molecular Genetics, 31, 2560-2570
Human Molecular Genetics, 31, 15, pp. 2560-2570
Human Molecular Genetics, 31, 15, pp. 2560-2570
Contains fulltext : 282683.pdf (Publisher’s version ) (Open Access) Retinitis pigmentosa (RP) is a genetically heterogeneous form of inherited retinal disease that leads to progressive visual impairment. One genetic subtype of RP, RP54, has been li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1aaca161146285af244e88647443ce9
https://doi.org/10.1093/hmg/ddac057
https://doi.org/10.1093/hmg/ddac057