K
Karen Duran
Researcher at Utrecht University
Publications - 41
Citations - 2431
Karen Duran is an academic researcher from Utrecht University. The author has contributed to research in topics: Missense mutation & Chromothripsis. The author has an hindex of 25, co-authored 38 publications receiving 1977 citations. Previous affiliations of Karen Duran include University Medical Center Utrecht.
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Journal ArticleDOI
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
Wigard P. Kloosterman,Victor Guryev,Mark van Roosmalen,Karen Duran,Ewart de Bruijn,Saskia C.M. Bakker,Tom G.W. Letteboer,Bernadette P M van Nesselrooij,Ron Hochstenbach,Martin Poot,Edwin Cuppen +10 more
TL;DR: The pattern of random joining of chromosomal fragments that is observed here strongly resembles the somatic rearrangement patterns--termed chromothripsis--that have recently been described in deranged cancer cells and it is concluded that a similar mechanism may also drive the formation of de novo structural variation in the germline.
Journal ArticleDOI
Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms
Wigard P. Kloosterman,Masoumeh Tavakoli-Yaraki,Markus J. van Roosmalen,Ellen van Binsbergen,Ivo Renkens,Karen Duran,Lucia Ballarati,Sarah Vergult,Daniela Giardino,Kerstin Hansson,Claudia A. L. Ruivenkamp,Myrthe Jager,Arie van Haeringen,Elly F. Ippel,Thomas Haaf,Eberhard Passarge,Ron Hochstenbach,Björn Menten,Lidia Larizza,Victor Guryev,Martin Poot,Edwin Cuppen +21 more
TL;DR: Analysis of the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints finds that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes.
Journal ArticleDOI
Dominant missense mutations in ABCC9 cause Cantú syndrome
Magdalena Harakalova,Jeske J.T. van Harssel,Paulien A Terhal,Stef van Lieshout,Karen Duran,Ivo Renkens,David J. Amor,David J. Amor,Louise C. Wilson,Edwin P. Kirk,Claire L. S. Turner,Debbie Shears,Sixto García-Miñaur,Melissa Lees,Alison Ross,Hanka Venselaar,Gert Vriend,Hiroki Takanari,Martin B. Rook,Marcel A.G. van der Heyden,Folkert W. Asselbergs,Hans M P J Breur,Marielle E M Swinkels,Ingrid Scurr,Sarah F. Smithson,Nine V A M Knoers,Jasper J. van der Smagt,Isaac J. Nijman,Wigard P. Kloosterman,Mieke M. van Haelst,Mieke M. van Haelst,Gijs van Haaften,Edwin Cuppen,Edwin Cuppen +33 more
TL;DR: Using electrophysiological measurements, it is shown that mutations in ABCC9 reduce the ATP-mediated potassium channel inhibition, resulting in channel opening, and similarities between the phenotype of individuals with Cantú syndrome and side effects from the KATP channel agonist minoxidil indicate that the mutations inABCC9 result in channelOpening.
Journal ArticleDOI
Mechanisms of Therapy Resistance in Patient-Derived Xenograft Models of BRCA1-Deficient Breast Cancer
Petra ter Brugge,Petra Kristel,Eline van der Burg,Ute Boon,Michiel de Maaker,Esther H. Lips,Lennart Mulder,Julian R. de Ruiter,Catia Moutinho,Heidrun Gevensleben,Elisabetta Marangoni,Ian J. Majewski,Katarzyna Jozwiak,Wigard P. Kloosterman,Markus J. van Roosmalen,Karen Duran,Frans B. L. Hogervorst,Nicholas C. Turner,Manel Esteller,Edwin Cuppen,Jelle Wesseling,Jos Jonkers +21 more
TL;DR: A novel resistance mechanism is described in BRCA1-methylated PDX tumors involving de novo rearrangements at the BRC a1 locus, demonstrating that BRCa1- methylated breast cancers may acquire therapy resistance via both epigenetic and genetic mechanisms.
Journal ArticleDOI
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
Glen R. Monroe,Gerardus W.J. Frederix,Sanne M C Savelberg,Tamar I de Vries,Karen Duran,Jasper J. van der Smagt,Paulien A Terhal,Peter M. van Hasselt,Hester Y. Kroes,Nanda M. Verhoeven-Duif,Isaac J. Nijman,Ellen C Carbo,Koen L.I. van Gassen,Nine V A M Knoers,Anke M. Hövels,Mieke M. van Haelst,Gepke Visser,Gijs van Haaften +17 more
TL;DR: The increased causal variant detection yield by WES and the relatively high costs of the entire traditional diagnostic trajectory suggest that early implementation of WES is a relevant and cost-efficient option in patient diagnostics.