Anneke I. den Hollander

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Mutations in the human Crumbs homologue 1 (CRB1) gene cause severe retinal dystrophies. CRB1 is homologous to Drosophila Crumbs, a protein essential for establishing and maintaining epithelial polarity. We have isolated the mouse orthologue, Crb1, and analyzed its expression pattern in embryonic and post-natal stages. Crb1 is expressed exclusively in the(More)
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease(More)
BAG-1 has been identified as a Bcl-2-binding protein that inhibits apoptosis, either alone or in co-operation with Bcl-2. Here we show that BAG-1 inhibits p53- induced apoptosis in the human tumour cell line Saos-2. In contrast, BAG-1 was unable to inhibit the p53-independent pathway induced by apoptin, an apoptosis-inducing protein derived from chicken(More)
Retina and retinal pigment epithelium (RPE) belong to the metabolically most active tissues in the human body. Efficient removal of acid load from retina and RPE is a critical function mediated by the choriocapillaris. However, the mechanism by which pH homeostasis is maintained is largely unknown. Here, we show that a functional complex of carbonic(More)
Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. Using homozygosity mapping and whole-exome and candidate gene sequencing, we identified ten families carrying six homozygous and two compound-heterozygous mutations in the ATF6 gene (encoding activating(More)
Linkage analysis was performed on a large Dutch family with autosomal dominant retinitis pigmentosa. Linkage was found to the RP17 locus on chromosome 17q22, which was previously described in two South African families by Bardien et al. (1995, 1997). Assuming that the disease phenotypes in these families are caused by the same gene, the RP17 critical region(More)
PURPOSE To describe the clinical phenotype in a family with primary open angle glaucoma harboring a p.Gln368X mutation in MYOC. MATERIALS AND METHODS We identified a proband with primary open angle glaucoma and the p.Gln368X MYOC mutation. She and her six siblings were examined clinically, including Heidelberg Retina Tomography II, and venous blood(More)
Published online: 3 October 2010 Gelareh Abedi Marc MordekhaÏ Abitbol N. Leyla Acan Nisha Acharya Ron Adelman Pia Agervi Fabio Bom Aggio Hansjürgen Agostini Lloyd Paul Aiello Sabine Aisenbrey Yonca A. Akova Jose Alfonso Jorge L. Alio Saleh ALI Al-Obeidan Gerasimos Anastassiou G. E. Anastassov Siamak Ansari-Shahrezaei Geoffrey Arden J. Fernando Arevalo(More)
Anneke I den Hollander1,16, Robert K Koenekoop2,16, Moin D Mohamed3,4,16, Heleen H Arts1,16, Karsten Boldt5,6, Katherine V Towns3, Tina Sedmak7, Monika Beer5,6, Kerstin Nagel-Wolfrum7, Martin McKibbin3,8, Sharola Dharmaraj4, Irma Lopez2, Lenka Ivings3,9, Grange A Williams3, Kelly Springell3, C Geoff Woods10, Hussain Jafri11, Yasmin Rashid12, Tim M Strom5,6,(More)
Takayuki Baba Paul Badenoch Lelio Baldeschi Francesco Bandello Adiel Barak Irene Barbazetto Brendan Barrett Luigi Bartalena Yavuz Basterzi Maurizio Battaglia Parodi Martin Baumeister Lamis Baydoun Paul E. Beaumont Matthias Becker David Beebe Guy Ben Simon Delia Bendschneider Boel Bengtsson Armando Bertone Sven Beutelspacher Anjali Bhorade Susanne Binder(More)