Literature DB >> 33510597

Chromothripsis and Duplications as Underappreciated Genomic Gremlins.

Martin Poot.   

Abstract

Entities:  

Year:  2020        PMID： 33510597      PMCID： PMC7802446          DOI： 10.1159/000512565

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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  35 in total

1.  Chromosomal instability in B-lymphoblasotoid cell lines from Werner and Bloom syndrome patients.

Authors:  Masamitsu Honma; Satoshi Tadokoro; Hiroko Sakamoto; Hideyuki Tanabe; Masanobu Sugimoto; Yasuhiro Furuichi; Takatomo Satoh; Toshio Sofuni; Makoto Goto; Makoto Hayashi
Journal:  Mutat Res       Date:  2002-09-26       Impact factor: 2.433

2.  Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Authors:  Zuzana Slamova; Lusine Nazaryan-Petersen; Mana M Mehrjouy; Jana Drabova; Miroslava Hancarova; Tatana Marikova; Drahuse Novotna; Marketa Vlckova; Zdenka Vlckova; Mads Bak; Zuzana Zemanova; Niels Tommerup; Zdenek Sedlacek
Journal:  Hum Mutat       Date:  2018-02-20       Impact factor: 4.878

3.  Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Authors:  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
Journal:  Cell Rep       Date:  2012-06-15       Impact factor: 9.423

4.  Nuclear structure in normal and Bloom syndrome cells.

Authors:  V Yankiwski; R A Marciniak; L Guarente; N F Neff
Journal:  Proc Natl Acad Sci U S A       Date:  2000-05-09       Impact factor: 11.205

5.  Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.

Authors:  Wigard P Kloosterman; Victor Guryev; Mark van Roosmalen; Karen J Duran; Ewart de Bruijn; Saskia C M Bakker; Tom Letteboer; Bernadette van Nesselrooij; Ron Hochstenbach; Martin Poot; Edwin Cuppen
Journal:  Hum Mol Genet       Date:  2011-02-24       Impact factor: 6.150

6.  Catastrophic nuclear envelope collapse in cancer cell micronuclei.

Authors:  Emily M Hatch; Andrew H Fischer; Thomas J Deerinck; Martin W Hetzer
Journal:  Cell       Date:  2013-07-03       Impact factor: 41.582

7.  Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.

Authors:  Mirjam S de Pagter; Markus J van Roosmalen; Annette F Baas; Ivo Renkens; Karen J Duran; Ellen van Binsbergen; Masoumeh Tavakoli-Yaraki; Ron Hochstenbach; Lars T van der Veken; Edwin Cuppen; Wigard P Kloosterman
Journal:  Am J Hum Genet       Date:  2015-03-19       Impact factor: 11.025

8.  Werner syndrome lymphoblastoid cells are sensitive to camptothecin-induced apoptosis in S-phase.

Authors:  M Poot; K A Gollahon; P S Rabinovitch
Journal:  Hum Genet       Date:  1999-01       Impact factor: 4.132

9.  Werner syndrome diploid fibroblasts are sensitive to 4-nitroquinoline-N-oxide and 8-methoxypsoralen: implications for the disease phenotype.

Authors:  Martin Poot; Katherine A Gollahon; Mary J Emond; John R Silber; Peter S Rabinovitch
Journal:  FASEB J       Date:  2002-03-12       Impact factor: 5.191

Review 10.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Authors:  Martin Poot; Thomas Haaf
Journal:  Mol Syndromol       Date:  2015-08-15
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