Literature DB >> 28588432

Of Simple and Complex Genome Rearrangements, Chromothripsis, Chromoanasynthesis, and Chromosome Chaos.

Martin Poot.   

Abstract

Year:  2017        PMID: 28588432      PMCID: PMC5448448          DOI: 10.1159/000454964

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


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  28 in total

1.  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

Review 2.  Criteria for inference of chromothripsis in cancer genomes.

Authors:  Jan O Korbel; Peter J Campbell
Journal:  Cell       Date:  2013-03-14       Impact factor: 41.582

3.  Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations.

Authors:  Tobias Rausch; David T W Jones; Marc Zapatka; Adrian M Stütz; Thomas Zichner; Joachim Weischenfeldt; Natalie Jäger; Marc Remke; David Shih; Paul A Northcott; Elke Pfaff; Jelena Tica; Qi Wang; Luca Massimi; Hendrik Witt; Sebastian Bender; Sabrina Pleier; Huriye Cin; Cynthia Hawkins; Christian Beck; Andreas von Deimling; Volkmar Hans; Benedikt Brors; Roland Eils; Wolfram Scheurlen; Jonathon Blake; Vladimir Benes; Andreas E Kulozik; Olaf Witt; Dianna Martin; Cindy Zhang; Rinnat Porat; Diana M Merino; Jonathan Wasserman; Nada Jabado; Adam Fontebasso; Lars Bullinger; Frank G Rücker; Konstanze Döhner; Hartmut Döhner; Jan Koster; Jan J Molenaar; Rogier Versteeg; Marcel Kool; Uri Tabori; David Malkin; Andrey Korshunov; Michael D Taylor; Peter Lichter; Stefan M Pfister; Jan O Korbel
Journal:  Cell       Date:  2012-01-20       Impact factor: 41.582

4.  Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.

Authors:  Lusine Nazaryan-Petersen; Birgitte Bertelsen; Mads Bak; Lars Jønson; Niels Tommerup; Dustin C Hancks; Zeynep Tümer
Journal:  Hum Mutat       Date:  2016-02-04       Impact factor: 4.878

5.  A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains.

Authors:  Heleen Masset; Matthew S Hestand; Hilde Van Esch; Pascale Kleinfinger; Julie Plaisancié; Alexandra Afenjar; Romain Molignier; Caroline Schluth-Bolard; Damien Sanlaville; Joris R Vermeesch
Journal:  Hum Mutat       Date:  2016-04-06       Impact factor: 4.878

Review 6.  Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.

Authors:  Franck Pellestor; Vincent Gatinois; Jacques Puechberty; David Geneviève; Geneviève Lefort
Journal:  Fertil Steril       Date:  2014-10-18       Impact factor: 7.329

7.  Chromothripsis and Kataegis Induced by Telomere Crisis.

Authors:  John Maciejowski; Yilong Li; Nazario Bosco; Peter J Campbell; Titia de Lange
Journal:  Cell       Date:  2015-12-17       Impact factor: 41.582

Review 8.  The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway.

Authors:  Michael R Lieber
Journal:  Annu Rev Biochem       Date:  2010       Impact factor: 23.643

9.  L1-associated genomic regions are deleted in somatic cells of the healthy human brain.

Authors:  Jennifer A Erwin; Apuã C M Paquola; Tatjana Singer; Iryna Gallina; Mark Novotny; Carolina Quayle; Tracy A Bedrosian; Francisco I A Alves; Cheyenne R Butcher; Joseph R Herdy; Anindita Sarkar; Roger S Lasken; Alysson R Muotri; Fred H Gage
Journal:  Nat Neurosci       Date:  2016-09-12       Impact factor: 24.884

10.  Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

Authors:  Christine R Beck; Claudia M B Carvalho; Linda Banser; Tomasz Gambin; Danielle Stubbolo; Bo Yuan; Karen Sperle; Suzanne M McCahan; Marco Henneke; Pavel Seeman; James Y Garbern; Grace M Hobson; James R Lupski
Journal:  PLoS Genet       Date:  2015-03-06       Impact factor: 5.917

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  5 in total

Review 1.  Living Organisms Author Their Read-Write Genomes in Evolution.

Authors:  James A Shapiro
Journal:  Biology (Basel)       Date:  2017-12-06

Review 2.  Nonclonal Chromosome Aberrations and Genome Chaos in Somatic and Germ Cells from Patients and Survivors of Hodgkin Lymphoma.

Authors:  Sara Frias; Sandra Ramos; Consuelo Salas; Bertha Molina; Silvia Sánchez; Roberto Rivera-Luna
Journal:  Genes (Basel)       Date:  2019-01-10       Impact factor: 4.096

Review 3.  What Is Karyotype Coding and Why Is Genomic Topology Important for Cancer and Evolution?

Authors:  Christine J Ye; Lukas Stilgenbauer; Amanda Moy; Guo Liu; Henry H Heng
Journal:  Front Genet       Date:  2019-11-01       Impact factor: 4.599

4.  A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes.

Authors:  Yan Luo; Hezhen Lu; Yanshang Zhang; Zhiqiang Cui; Pingping Zhang; Yali Li
Journal:  Mol Cytogenet       Date:  2022-08-21       Impact factor: 1.904

5.  Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Authors:  Jan Smetana; Jan Oppelt; Martin Štork; Luděk Pour; Petr Kuglík
Journal:  Mol Cytogenet       Date:  2018-01-18       Impact factor: 2.009

  5 in total

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