Publications by authors named "Arthur A B Bergen"

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A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Berith M Balfoort, Mark J N Buijs, Anneloor L M A Ten Asbroek, Arthur A B Bergen, Camiel J F Boon

Mol Genet Metab· February 2022

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An alternative approach to produce versatile retinal organoids with accelerated ganglion cell development.
Ellie L Wagstaff, Anneloor L M A Ten Asbroek, Jacoline B Ten Brink, Nomdo M Jansonius, Arthur A B Bergen

Sci Rep· January 2021

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Genetic deletion of Abcc6 disturbs cholesterol homeostasis in mice.
Bettina Ibold, Janina Tiemann, Isabel Faust, Uta Ceglarek, Julia Dittrich, Arthur A B Bergen

Sci Rep· January 2021

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Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.
Valeria Lo Faro, Sorath N Siddiqui, Muhammad I Khan, Cristina Villanueva-Mendoza, Vianney Cortés-González, Arthur A B Bergen

Mol Genet Genomic Med· July 2020

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Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.
Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Ilse Therésia Gabriëla Niewold, Muhammad Imran Khan, Arthur A B Bergen

Cornea· June 2019

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Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
Sanne K Verbakel, Ramon A C van Huet, Anneke I den Hollander, Maartje J Geerlings, Eveline Kersten, Arthur A B Bergen

Invest Ophthalmol Vis Sci· March 2019

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Abcc6 deficiency in mice leads to altered ABC transporter gene expression in metabolic active tissues.
Bettina Ibold, Isabel Faust, Janina Tiemann, Theo G M F Gorgels, Arthur A B Bergen

Lipids Health Dis· January 2019

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Amyloid-beta and phosphorylated tau in post-mortem Alzheimer's disease retinas.
Jurre den Haan, Tjado H J Morrema, Frank D Verbraak, Johannes F de Boer, Philip Scheltens, Arthur A B Bergen

Acta Neuropathol Commun· December 2018

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Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.
Shazia Micheal, Ilse Therésia Gabriëla Niewold, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Muhammad Imran Khan, Arthur A B Bergen

Genes (Basel)· February 2018

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LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.
Inge B Mathijssen, Ralph J Florijn, L Ingeborgh van den Born, Renate C Zekveld-Vroon, Jacoline B Ten Brink, Arthur A B Bergen

Retina· January 2017

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Loss of MAPK Pathway Activation in Post-Mitotic Retinal Cells as Mechanism in MEK Inhibition-Related Retinopathy in Cancer Patients.
Elon H C van Dijk, Danique E M Duits, Mieke Versluis, Gregrorius P M Luyten, Arthur A B Bergen

Medicine (Baltimore)· May 2016

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Correspondence.
Camiel J F Boon, L Ingeborgh van den Born, Jan E E Keunen, Arthur A B Bergen, Frans C Riemslag

Retina· September 2015

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Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.
Ariana Kariminejad, Bita Bozorgmehr, Abdolhamid Najafi, Atefeh Khoshaeen, Maryam Ghalandari, Arthur A B Bergen

J Invest Dermatol· September 2014

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Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
Henriët Springelkamp, René Höhn, Aniket Mishra, Pirro G Hysi, Chiea-Chuen Khor, Arthur A B Bergen

Nat Commun· September 2014

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Gene expression and functional annotation of the human and mouse choroid plexus epithelium.
Sarah F Janssen, Sophie J F van der Spek, Jacoline B Ten Brink, Anke H W Essing, Theo G M F Gorgels, Arthur A B Bergen

PLoS One· August 2014

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Human ciliary epithelia do express genes with retinal progenitor cell characteristics in vivo.
Sarah F Janssen, Anna Bennis, Vivi M Heine, Arthur A B Bergen

Exp Eye Res· April 2014

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Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.
Fabrice Prunier, Gwenola Terrien, Yannick Le Corre, Ailea L Y Apana, Loïc Bière, Arthur A B Bergen

PLoS One· March 2014

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Alzheimer's disease and glaucoma-reply.
Sarah F Janssen, Theo G M F Gorgels, Wishal D Ramdas, Caroline C W Klaver, Cornelia M van Duijn, Arthur A B Bergen

Prog Retin Eye Res· March 2014

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The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury.
Christopher Brampton, Zouhair Aherrahrou, Li-Hsieh Chen, Ludovic Martin, Arthur A B Bergen

Am J Pathol· January 2014

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ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.
Robert S Jansen, Aslı Küçükosmanoglu, Marcel de Haas, Sunny Sapthu, Jon Andoni Otero, Arthur A B Bergen

Proc Natl Acad Sci U S A· December 2013

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The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology.
Sarah F Janssen, Theo G M F Gorgels, Wishal D Ramdas, Caroline C W Klaver, Cornelia M van Duijn, Arthur A B Bergen

Prog Retin Eye Res· November 2013

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Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
Mieke M C Bijveld, Ralph J Florijn, Arthur A B Bergen, L Ingeborgh van den Born, Maarten Kamermans

Ophthalmology· October 2013

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Complement factor C3a alters proteasome function in human RPE cells and in an animal model of age-related RPE degeneration.
J Emanuel Ramos de Carvalho, Ingeborg Klaassen, Ilse M C Vogels, Sabine Schipper-Krom, Cornelis J F van Noorden, Arthur A B Bergen

Invest Ophthalmol Vis Sci· October 2013

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Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.
Jan Klooster, Maria M van Genderen, Minzhong Yu, Ralph J Florijn, Frans C C Riemslag, Arthur A B Bergen

Invest Ophthalmol Vis Sci· October 2013

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Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Virginie J M Verhoeven, Pirro G Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A Guggenheim, Arthur A B Bergen

Nat Genet· March 2013

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