Arachidonic Acid Enhances Turnover of the Dermal Skeleton: Studies on Zebrafish Scales

por de Vrieze, Erik, Moren, Mari, Metz, Juriaan R., Flik, Gert, Lie, Kai Kristoffer
Publicado 2014

Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology

por Stemerdink, Merel, Broekman, Sanne, Peters, Theo, Kremer, Hannie, de Vrieze, Erik, van Wijk, Erwin
Publicado 2023

A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa

por Schellens, Renske T.W., Broekman, Sanne, Peters, Theo, Graave, Pam, Malinar, Lucija, Venselaar, Hanka, Kremer, Hannie, De Vrieze, Erik, Van Wijk, Erwin
Publicado 2023

Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes

por de Vrieze, Erik, de Bruijn, Suzanne E., Reurink, Janine, Broekman, Sanne, van de Riet, Vince, Aben, Marco, Kremer, Hannie, van Wijk, Erwin
Publicado 2021

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa

por Schellens, Renske, de Vrieze, Erik, Graave, Pam, Broekman, Sanne, Nagel-Wolfrum, Kerstin, Peters, Theo, Kremer, Hannie, Collin, Rob W. J., van Wijk, Erwin
Publicado 2021

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

por de Vrieze, Erik, Cañas Martín, Jorge, Peijnenborg, Jolien, Martens, Aniek, Oostrik, Jaap, van den Heuvel, Simone, Neveling, Kornelia, Pennings, Ronald, Kremer, Hannie, van Wijk, Erwin
Publicado 2021

Disruption of the foxe1 gene in zebrafish reveals conserved functions in development of the craniofacial skeleton and the thyroid

por Raterman, Sophie T., Von Den Hoff, Johannes W., Dijkstra, Sietske, De Vriend, Cheyenne, Te Morsche, Tim, Broekman, Sanne, Zethof, Jan, De Vrieze, Erik, Wagener, Frank A. D. T. G., Metz, Juriaan R.
Publicado 2023

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

por Robijn, Sybren M. M., Smits, Jeroen J., Sezer, Kadriye, Huygen, Patrick L. M., Beynon, Andy J., van Wijk, Erwin, Kremer, Hannie, de Vrieze, Erik, Lanting, Cornelis P., Pennings, Ronald J. E.
Publicado 2022

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

por Toms, Maria, Dubis, Adam M, de Vrieze, Erik, Tracey-White, Dhani, Mitsios, Andreas, Hayes, Matthew, Broekman, Sanne, Baxendale, Sarah, Utoomprurkporn, Nattawan, Bamiou, Doris, Bitner-Glindzicz, Maria, Webster, Andrew R, Van Wijk, Erwin, Moosajee, Mariya
Publicado 2020

Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a

por Hendricks, Jessie M., Metz, Juriaan R., Velde, Hedwig M., Weeda, Jack, Hartgers, Franca, Yzer, Suzanne, Hoyng, Carel B., Pennings, Ronald J.E., Collin, Rob W.J., Boss, Myrthe H.M., de Vrieze, Erik, van Wijk, Erwin
Publicado 2023

Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish

por Quint, Wim H., Tadema, Kirke C. D., de Vrieze, Erik, Lukowicz, Rachel M., Broekman, Sanne, Winkelman, Beerend H. J., Hoevenaars, Melanie, de Gruiter, H. Martijn, van Wijk, Erwin, Schaeffel, Frank, Meester-Smoor, Magda, Miller, Adam C., Willemsen, Rob, Klaver, Caroline C. W., Iglesias, Adriana I.
Publicado 2021

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

por Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie
Publicado 2021

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

por Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Letteboer, Stef J.F., van Wijk, Erwin, Roepman, Ronald, den Hollander, Anneke I., Cremers, Frans P.M.
Publicado 2014

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

por Bachmann-Gagescu, Ruxandra, Dona, Margo, Hetterschijt, Lisette, Tonnaer, Edith, Peters, Theo, de Vrieze, Erik, Mans, Dorus A., van Beersum, Sylvia E. C., Phelps, Ian G., Arts, Heleen H., Keunen, Jan E., Ueffing, Marius, Roepman, Ronald, Boldt, Karsten, Doherty, Dan, Moens, Cecilia B., Neuhauss, Stephan C. F., Kremer, Hannie, van Wijk, Erwin
Publicado 2015

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

por Nguyen, Thanh-Minh T, Hull, Sarah, Roepman, Ronald, van den Born, L Ingeborgh, Oud, Machteld M, de Vrieze, Erik, Hetterschijt, Lisette, Letteboer, Stef J F, van Beersum, Sylvia E C, Blokland, Ellen A, Yntema, Helger G, Cremers, Frans P M, van der Zwaag, Paul A, Arno, Gavin, van Wijk, Erwin, Webster, Andrew R, Haer-Wigman, Lonneke
Publicado 2017

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish

por Dona, Margo, Bachmann-Gagescu, Ruxandra, Texier, Yves, Toedt, Grischa, Hetterschijt, Lisette, Tonnaer, Edith L., Peters, Theo A., van Beersum, Sylvia E. C., Bergboer, Judith G. M., Horn, Nicola, de Vrieze, Erik, Slijkerman, Ralph W. N., van Reeuwijk, Jeroen, Flik, Gert, Keunen, Jan E., Ueffing, Marius, Gibson, Toby J., Roepman, Ronald, Boldt, Karsten, Kremer, Hannie, van Wijk, Erwin
Publicado 2015

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

por Dulla, Kalyan, Slijkerman, Ralph, van Diepen, Hester C., Albert, Silvia, Dona, Margo, Beumer, Wouter, Turunen, Janne J., Chan, Hee Lam, Schulkens, Iris A., Vorthoren, Lars, den Besten, Cathaline, Buil, Levi, Schmidt, Iris, Miao, Jiayi, Venselaar, Hanka, Zang, Jingjing, Neuhauss, Stephan C.F., Peters, Theo, Broekman, Sanne, Pennings, Ronald, Kremer, Hannie, Platenburg, Gerard, Adamson, Peter, de Vrieze, Erik, van Wijk, Erwin
Publicado 2021

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

por Reurink, Janine, de Vrieze, Erik, Li, Catherina H. Z., van Berkel, Emma, Broekman, Sanne, Aben, Marco, Peters, Theo, Oostrik, Jaap, Neveling, Kornelia, Venselaar, Hanka, Ramos, Mariana Guimarães, Gilissen, Christian, Astuti, Galuh D. N., Galbany, Jordi Corominas, van Lith-Verhoeven, Janneke J. C., Ockeloen, Charlotte W., Haer-Wigman, Lonneke, Hoyng, Carel B., Cremers, Frans P. M., Kremer, Hannie, Roosing, Susanne, van Wijk, Erwin
Publicado 2022

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

por Zazo Seco, Celia, Castells-Nobau, Anna, Joo, Seol-hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S. Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M., Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P., Khor, Chiea Chuen, Göpfert, Martin C., Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima
Publicado 2017

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

por Sanders, Anna A. W. M., de Vrieze, Erik, Alazami, Anas M., Alzahrani, Fatema, Malarkey, Erik B., Sorusch, Nasrin, Tebbe, Lars, Kuhns, Stefanie, van Dam, Teunis J. P., Alhashem, Amal, Tabarki, Brahim, Lu, Qianhao, Lambacher, Nils J., Kennedy, Julie E., Bowie, Rachel V., Hetterschijt, Lisette, van Beersum, Sylvia, van Reeuwijk, Jeroen, Boldt, Karsten, Kremer, Hannie, Kesterson, Robert A., Monies, Dorota, Abouelhoda, Mohamed, Roepman, Ronald, Huynen, Martijn H., Ueffing, Marius, Russell, Rob B., Wolfrum, Uwe, Yoder, Bradley K., van Wijk, Erwin, Alkuraya, Fowzan S., Blacque, Oliver E.
Publicado 2015