Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Erik De Vrieze"'
Autor:
Tabea V. Riepe, Merel Stemerdink, Renee Salz, Alfredo Dueñas Rey, Suzanne E. de Bruijn, Erica Boonen, Tomasz Z. Tomkiewicz, Michael Kwint, Jolein Gloerich, Hans J. C. T. Wessels, Emma Delanote, Elfride De Baere, Filip van Nieuwerburgh, Sarah De Keulenaer, Barbara Ferrari, Stefano Ferrari, Frauke Coppieters, Frans P. M. Cremers, Erwin van Wyk, Susanne Roosing, Erik de Vrieze, Peter A. C. ‘t Hoen
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The human neural retina is a complex tissue with abundant alternative splicing and more than 10% of genetic variants linked to inherited retinal diseases (IRDs) alter splicing. Traditional short-read RNA-sequencing methods have been used for understa
Externí odkaz:
https://doaj.org/article/597f13c9088a47f6afda9d373f062809
Autor:
Renske T.W. Schellens, Sanne Broekman, Theo Peters, Pam Graave, Lucija Malinar, Hanka Venselaar, Hannie Kremer, Erik De Vrieze, Erwin Van Wijk
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 980-994 (2023)
Loss-of-function mutations in USH2A are among the most common causes of syndromic and non-syndromic retinitis pigmentosa (RP). We previously presented skipping of USH2A exon 13 as a promising treatment paradigm for USH2A-associated RP. However, RP-as
Externí odkaz:
https://doaj.org/article/819a81b9ec714c17aee7bfc70895bac8
Autor:
Jessie M. Hendricks, MSc, Juriaan R. Metz, PhD, Hedwig M. Velde, MSc, Jack Weeda, BSc, Franca Hartgers, PhD, Suzanne Yzer, MD, PhD, Carel B. Hoyng, MD, PhD, Ronald J.E. Pennings, MD, PhD, Rob W.J. Collin, PhD, Myrthe H.M. Boss, MD, PhD, Erik de Vrieze, PhD, Erwin van Wijk, PhD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 4, Pp 100323- (2023)
Purpose: To study the prevalence, level, and nature of sleep problems and fatigue experienced by Usher syndrome type 2a (USH2a) patients. Design: Cross-sectional study. Participants: Fifty-six genetically confirmed Dutch patients with syndromic USH2a
Externí odkaz:
https://doaj.org/article/bf81ea053cd84a33a56be3dd5f51f776
Autor:
Vincent Van Rompaey, Hanne Gommeren, Joyce Bosmans, Dorien Verdoodt, Sebastien JanssensdeVarebeke, Erik de Vrieze, Ronald Pennings, Raymond Van de Berg, Marc Lammers, Olivier Vanderveken, Erik Fransen, Guy Van Camp, Erwin Van Wijk
Publikováno v:
B-ENT, Vol 18, Iss 4, Pp 273-283 (2022)
Externí odkaz:
https://doaj.org/article/2cb1c3d5a66a48399ec0d0f621b0140d
Autor:
Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract The USH2A variant c.2276 G > T (p.(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa (arRP). However, this is in contrast with the description of two asymptomatic individuals homoz
Externí odkaz:
https://doaj.org/article/6094fbd31fc64081a2b2723bd0ebe783
Autor:
Sophie T. Raterman, Johannes W. Von Den Hoff, Sietske Dijkstra, Cheyenne De Vriend, Tim Te Morsche, Sanne Broekman, Jan Zethof, Erik De Vrieze, Frank A. D. T. G. Wagener, Juriaan R. Metz
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Mutations in the FOXE1 gene are implicated in cleft palate and thyroid dysgenesis in humans.Methods: To investigate whether zebrafish could provide meaningful insights into the etiology of developmental defects in humans related to FOXE
Externí odkaz:
https://doaj.org/article/cd69ba0d7225418db7d9b46198853552
Publikováno v:
Cells, Vol 12, Iss 12, p 1598 (2023)
Worldwide, around 40,000 people progressively lose their eyesight as a consequence of retinitis pigmentosa (RP) caused by pathogenic variants in the ADGRV1 gene, for which currently no treatment options exist. A model organism that mimics the human p
Externí odkaz:
https://doaj.org/article/97d038a73fe4437c98ddc4d39ffe7738
Autor:
Erik de Vrieze, Jorge Cañas Martín, Jolien Peijnenborg, Aniek Martens, Jaap Oostrik, Simone van den Heuvel, Kornelia Neveling, Ronald Pennings, Hannie Kremer, Erwin van Wijk
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 24, Iss , Pp 274-283 (2021)
The c.151C>T founder mutation in COCH is a frequent cause of late-onset, dominantly inherited hearing impairment and vestibular dysfunction (DFNA9) in the Dutch/Belgian population. The initial clinical symptoms only manifest between the 3rd and 5th d
Externí odkaz:
https://doaj.org/article/0da8c0567f494dd592518d218bfb3359
Autor:
Wim H. Quint, Kirke C. D. Tadema, Erik de Vrieze, Rachel M. Lukowicz, Sanne Broekman, Beerend H. J. Winkelman, Melanie Hoevenaars, H. Martijn de Gruiter, Erwin van Wijk, Frank Schaeffel, Magda Meester-Smoor, Adam C. Miller, Rob Willemsen, Caroline C. W. Klaver, Adriana I. Iglesias
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
Quint et al. use zebrafish lines deficient in one of two orthologs of the Gap Junction Delta-2 (GJD2) gene, which is associated with myopia by genome-wide association studies. They link gjd2 with refractive error and report evidence to suggest that g
Externí odkaz:
https://doaj.org/article/34eb9c818e744750bea9066079088f6f
Autor:
Sybren M. M. Robijn, Jeroen J. Smits, Kadriye Sezer, Patrick L. M. Huygen, Andy J. Beynon, Erwin van Wijk, Hannie Kremer, Erik de Vrieze, Cornelis P. Lanting, Ronald J. E. Pennings
Publikováno v:
Biomolecules, Vol 12, Iss 2, p 220 (2022)
Pathogenic missense variants in COCH are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of genotype-phenotype corr
Externí odkaz:
https://doaj.org/article/76007738f70f47bb8d879ea1a1a1ea33