Literature DB >> 26279648

Gene Fusion due to Chromosome Misconnection May Seriously Affect Your Health.

Martin Poot.   

Abstract

Year:  2015        PMID： 26279648      PMCID： PMC4521073          DOI： 10.1159/000381081

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


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  30 in total

1.  Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation.

Authors:  Mahmoud Reza Mansouri; Birgit Carlsson; Edward Davey; Agneta Nordenskjöld; Tomas Wester; Göran Annerén; Göran Läckgren; Niklas Dahl
Journal:  Hum Genet       Date:  2006-01-03       Impact factor: 4.132

2.  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

3.  A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD.

Authors:  Birgitte Bertelsen; Linea Melchior; Lars Riff Jensen; Camilla Groth; Lusine Nazaryan; Nanette Mol Debes; Liselotte Skov; Gangcai Xie; Wei Sun; Karen Brøndum-Nielsen; Andreas Walter Kuss; Wei Chen; Zeynep Tümer
Journal:  Psychiatry Res       Date:  2014-12-30       Impact factor: 3.222

4.  Functional role of the Werner syndrome RecQ helicase in human fibroblasts.

Authors:  Kiranjit K Dhillon; Julia Sidorova; Yannick Saintigny; Martin Poot; Katherine Gollahon; Peter S Rabinovitch; Raymond J Monnat
Journal:  Aging Cell       Date:  2007-02       Impact factor: 9.304

5.  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

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

Authors:  Sebastiaan van Heesch; Marieke Simonis; Markus J van Roosmalen; Vamsee Pillalamarri; Harrison Brand; Ewart W Kuijk; Kim L de Luca; Nico Lansu; A Koen Braat; Androniki Menelaou; Wensi Hao; Jeroen Korving; Simone Snijder; Lars T van der Veken; Ron Hochstenbach; Alida C Knegt; Karen Duran; Ivo Renkens; Najla Alekozai; Myrthe Jager; Sarah Vergult; Björn Menten; Ewart de Bruijn; Sander Boymans; Elly Ippel; Ellen van Binsbergen; Michael E Talkowski; Klaske Lichtenbelt; Edwin Cuppen; Wigard P Kloosterman
Journal:  Cell Rep       Date:  2014-12-11       Impact factor: 9.423

7.  Distinct functions for WRN and TP53 in a shared pathway of cellular response to 1-beta-D-arabinofuranosylcytosine and bleomycin.

Authors:  Martin Poot; Xiaoyang Jin; Juliane P Hill; Katherine A Gollahon; Peter S Rabinovitch
Journal:  Exp Cell Res       Date:  2004-06-10       Impact factor: 3.905

Review 8.  The impact of translocations and gene fusions on cancer causation.

Authors:  Felix Mitelman; Bertil Johansson; Fredrik Mertens
Journal:  Nat Rev Cancer       Date:  2007-03-15       Impact factor: 60.716

9.  Mutator phenotype of Werner syndrome is characterized by extensive deletions.

Authors:  K Fukuchi; G M Martin; R J Monnat
Journal:  Proc Natl Acad Sci U S A       Date:  1989-08       Impact factor: 11.205

10.  A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins.

Authors:  Jennifer E Eykelenboom; Gareth J Briggs; Nicholas J Bradshaw; Dinesh C Soares; Fumiaki Ogawa; Sheila Christie; Elise L V Malavasi; Paraskevi Makedonopoulou; Shaun Mackie; Mary P Malloy; Martin A Wear; Elizabeth A Blackburn; Janice Bramham; Andrew M McIntosh; Douglas H Blackwood; Walter J Muir; David J Porteous; J Kirsty Millar
Journal:  Hum Mol Genet       Date:  2012-04-30       Impact factor: 6.150
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