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Your search keyword '"Kloosterman, Wigard P."' showing total 6 results
Start Over Author "Kloosterman, Wigard P." Publisher cell press
6 results on '"Kloosterman, Wigard P."'

1. A multi-platform reference for somatic structural variation detection

Author

CMM Groep Cuppen, CMM Groep De Ridder, Cancer, CMM Groep Kloosterman, Child Health, Espejo Valle-Inclan, Jose, Besselink, Nicolle J M, de Bruijn, Ewart, Cameron, Daniel L, Ebler, Jana, Kutzera, Joachim, van Lieshout, Stef, Marschall, Tobias, Nelen, Marcel, Priestley, Peter, Renkens, Ivo, Roemer, Margaretha G M, van Roosmalen, Markus J, Wenger, Aaron M, Ylstra, Bauke, Fijneman, Remond J A, Kloosterman, Wigard P, Cuppen, Edwin, CMM Groep Cuppen, CMM Groep De Ridder, Cancer, CMM Groep Kloosterman, Child Health, Espejo Valle-Inclan, Jose, Besselink, Nicolle J M, de Bruijn, Ewart, Cameron, Daniel L, Ebler, Jana, Kutzera, Joachim, van Lieshout, Stef, Marschall, Tobias, Nelen, Marcel, Priestley, Peter, Renkens, Ivo, Roemer, Margaretha G M, van Roosmalen, Markus J, Wenger, Aaron M, Ylstra, Bauke, Fijneman, Remond J A, Kloosterman, Wigard P, and Cuppen, Edwin

Published
2022

2. Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

Author

de Pagter, Mirjam S., van Roosmalen, Markus J., Baas, AF, Renkens, I.J., Duran, KJ, van Binsbergen, E, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T., Cuppen, Edwin, Kloosterman, Wigard P., de Pagter, Mirjam S., van Roosmalen, Markus J., Baas, AF, Renkens, I.J., Duran, KJ, van Binsbergen, E, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T., Cuppen, Edwin, and Kloosterman, Wigard P.

Published
2015

3. Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

Author

CMM Groep Kloosterman, Cancer, Genetica Klinische Genetica, Genetica, Genetica Groep Van Haaften, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Hubrecht Institute with UMC, de Pagter, Mirjam S., van Roosmalen, Markus J., Baas, AF, Renkens, I.J., Duran, KJ, van Binsbergen, E, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T., Cuppen, Edwin, Kloosterman, Wigard P., CMM Groep Kloosterman, Cancer, Genetica Klinische Genetica, Genetica, Genetica Groep Van Haaften, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Hubrecht Institute with UMC, de Pagter, Mirjam S., van Roosmalen, Markus J., Baas, AF, Renkens, I.J., Duran, KJ, van Binsbergen, E, Tavakoli-Yaraki, Masoumeh, Hochstenbach, Ron, van der Veken, Lars T., Cuppen, Edwin, and Kloosterman, Wigard P.

Published
2015

4. Genomic and functional overlap between somatic and germline chromosomal rearrangements.

Author

van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, van Binsbergen E, Talkowski ME, Lichtenbelt K, Cuppen E, and Kloosterman WP

Subjects
Animals, Chromosome Breakpoints, DNA-Binding Proteins genetics, Forkhead Transcription Factors genetics, HEK293 Cells, Humans, MicroRNAs genetics, Repressor Proteins genetics, Transcription Factors genetics, Zebrafish, Chromosome Aberrations, Chromosomes, Human genetics, Congenital Abnormalities genetics, Gene Rearrangement, Genome, Human, Germ-Line Mutation
Abstract

Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangements. We found that the rearrangements in both patients hit genes that are recurrently rearranged in cancer (ETV1, FOXP1, and microRNA cluster C19MC) and drive formation of fusion genes similar to those described in cancer. Subsequent analysis of a large set of 552 de novo germline genomic rearrangements underlying congenital disorders revealed enrichment for genes rearranged in cancer and overlap with somatic cancer breakpoints. Breakpoints of common (inherited) germline structural variations also overlap with cancer breakpoints but are depleted for cancer genes. We propose that the same genomic positions are prone to genomic rearrangements in germline and soma but that timing and context of breakage determines whether developmental defects or cancer are promoted., (Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2014
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5. Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Author

Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V, Poot M, and Cuppen E

Subjects
Base Sequence, Chromosome Breakage, Chromosome Deletion, Chromosome Duplication genetics, Cluster Analysis, DNA Replication genetics, Genome, Human genetics, Humans, Molecular Sequence Data, Chromosomes, Human genetics, DNA Breaks, Double-Stranded, DNA End-Joining Repair genetics, Gene Rearrangement genetics
Abstract

Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis. We find that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes. In addition, nucleotide resolution analysis of 98 breakpoint junctions indicates that break repair involves nonhomologous or microhomology-mediated end joining. We observed that these eight rearrangements are balanced or contain sporadic deletions ranging in size between a few hundred base pairs and several megabases. The two remaining complex rearrangements did not display signs of DSBs and contain duplications, indicative of rearrangement processes involving template switching. Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements., (Copyright © 2012 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2012
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6. The diverse functions of microRNAs in animal development and disease.

Author

Kloosterman WP and Plasterk RH

Subjects
Animals, Models, Biological, Animal Diseases physiopathology, Embryology, MicroRNAs genetics, MicroRNAs physiology
Abstract

MicroRNAs (miRNAs) control gene expression by translational inhibition and destabilization of mRNAs. While hundreds of miRNAs have been found, only a few have been studied in detail. miRNAs have been implicated in tissue morphogenesis, cellular processes like apoptosis, and major signaling pathways. Emerging evidence suggests a direct link between miRNAs and disease, and miRNA expression signatures are associated with various types of cancer. In addition, the gain and loss of miRNA target sites appears to be causal to some genetic disorders. Here, we discuss the current literature on the role of miRNAs in animal development and disease.

Published
2006
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