Codrut C. Paun
Radboud University Nijmegen Medical Centre
4 Papers
141 Citations
Codrut C. Paun is an academic researcher from Radboud University Nijmegen Medical Centre. The author has contributed to research in topics: Biology & Gene. The author has an hindex of 4, co-authored 4 publications. Previous affiliations of Codrut C. Paun include Radboud University Nijmegen.
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Papers
A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
Johannes P. H. van de Ven,Sara C. Nilsson,Perciliz L. Tan,Gabriëlle H.S. Buitendijk,Tina Ristau,Frida C. Mohlin,Sander B. Nabuurs,Frederieke E. Schoenmaker-Koller,Dzenita Smailhodzic,Peter A. Campochiaro,Donald J. Zack,Maheswara R Duvvari,Bjorn Bakker,Codrut C. Paun,Camiel J. F. Boon,André G. Uitterlinden,Sandra Liakopoulos,B. Jeroen Klevering,Sascha Fauser,Mohamed R. Daha,Nicholas Katsanis,Caroline C W Klaver,Anna M. Blom,Carel B. Hoyng,Anneke I. den Hollander +24 more
TL;DR: It is demonstrated that rare, highly penetrant mutations contribute to the genetic burden of AMD by showing that human CFI mRNA encoding Arg119 had reduced activity compared to wild-type mRNA encoding Gly119 in regulating vessel thickness and branching in the zebrafish retina.
141
•Journal Article
A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen
Codrut C. Paun,Benjamin J. Pijl,Anna M. Siemiatkowska,Rob W.J. Collin,Frans P.M. Cremers,Carel B. Hoyng,Anneke I. den Hollander +6 more
TL;DR: It is demonstrated that a similar disease complex can be caused by mutations in the CRB1 gene.
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Rob W.J. Collin,L. Ingeborgh van den Born,B. Jeroen Klevering,Marta de Castro-Miro,Karin W. Littink,Kentar Arimadyo,Maleeha Azam,Volkan Yazar,Marijke N. Zonneveld,Codrut C. Paun,Anna M. Siemiatkowska,Tim M. Strom,Jayne Y. Hehir-Kwa,Hester Y. Kroes,Jan Tjeerd H N de Faber,Mary J. van Schooneveld,John R. Heckenlively,Carel B. Hoyng,Anneke I. den Hollander,Frans P.M. Cremers,Frans P.M. Cremers +20 more
TL;DR: This report demonstrates that homozygosity mapping is a powerful tool for identifying the genetic defect underlying genetically heterogeneous recessive disorders like RP, even in populations with little consanguinity.
Analysis of Rare Variants in the C3 Gene in Patients with Age-Related Macular Degeneration
Maheswara R Duvvari,Codrut C. Paun,Gabriëlle H.S. Buitendijk,Nicole T.M. Saksens,Elena B. Volokhina,Tina Ristau,Frederieke E. Schoenmaker-Koller,Johannes P. H. van de Ven,Joannes M. M. Groenewoud,Lambertus P. van den Heuvel,Albert Hofman,Sascha Fauser,André G. Uitterlinden,Caroline C W Klaver,Carel B. Hoyng,Eiko K. de Jong,Anneke I. den Hollander +16 more
TL;DR: Three rare variants at the C3 locus that are associated with AMD in the EUGENDA cohort are identified, however, the Arg735Trp and Ser1619Arg variants were not found to be associated withAMD in the Rotterdam Study.