Literature DB >> 14974079

Gross Rearrangement Breakpoint Database (GRaBD).

Shaun S Abeysinghe1, Peter D Stenson, Michael Krawczak, David N Cooper.   

Abstract

Translocations and gross gene deletions are an important cause of both cancer and inherited disease. Such DNA rearrangements are nonrandomly distributed in the human genome as a consequence of selection for growth advantage and/or the inherent potential of some DNA sequences to be particularly susceptible to breakage and recombination. The Gross Rearrangement Breakpoint Database (GRaBD; http://www.uwcm.ac.uk/uwcm/mg/grabd/) was established primarily for the analysis of the sequence context of translocation and deletion breakpoints in a search for characteristics that might have rendered these sequences prone to rearrangement. GRaBD, which contains 397 germline and somatic DNA breakpoint junction sequences derived from 219 different rearrangements underlying human inherited disease and cancer, is the only comprehensive collection of gross gene rearrangement breakpoint junctions currently available. Copyright 2004 Wiley-Liss, Inc.

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Year:  2004        PMID: 14974079     DOI: 10.1002/humu.20006

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  6 in total

1.  Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene.

Authors:  C Dehainault; A Laugé; V Caux-Moncoutier; S Pagès-Berhouet; F Doz; L Desjardins; J Couturier; M Gauthier-Villars; D Stoppa-Lyonnet; C Houdayer
Journal:  Nucleic Acids Res       Date:  2004-10-11       Impact factor: 16.971

2.  Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections.

Authors:  Y Yue; K Stout; B Grossmann; U Zechner; A Brinckmann; C White; D T Pilz; T Haaf
Journal:  J Med Genet       Date:  2005-05-20       Impact factor: 6.318

3.  CtIP maintains stability at common fragile sites and inverted repeats by end resection-independent endonuclease activity.

Authors:  Hailong Wang; Yongjiang Li; Lan N Truong; Linda Z Shi; Patty Yi-Hwa Hwang; Jing He; Johnny Do; Michael Jeffrey Cho; Hongzhi Li; Alejandro Negrete; Joseph Shiloach; Michael W Berns; Binghui Shen; Longchuan Chen; Xiaohua Wu
Journal:  Mol Cell       Date:  2014-05-15       Impact factor: 17.970

4.  Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly.

Authors:  Hsiao-Mei Liao; Jye-Siung Fang; Yann-Jang Chen; Kuang-Lun Wu; Kuei-Fang Lee; Chia-Hsiang Chen
Journal:  BMC Med Genet       Date:  2011-05-20       Impact factor: 2.103

5.  Replication stress triggers microsatellite destabilization and hypermutation leading to clonal expansion in vitro.

Authors:  Yusuke Matsuno; Yuko Atsumi; Atsuhiro Shimizu; Kotoe Katayama; Haruka Fujimori; Mai Hyodo; Yusuke Minakawa; Yoshimichi Nakatsu; Syuzo Kaneko; Ryuji Hamamoto; Teppei Shimamura; Satoru Miyano; Teruhisa Tsuzuki; Fumio Hanaoka; Ken-Ichi Yoshioka
Journal:  Nat Commun       Date:  2019-09-02       Impact factor: 14.919

6.  Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

Authors:  Janos Papp; Marietta Eva Kovacs; Zoltan Matrai; Enikő Orosz; Miklós Kásler; Anne-Lise Børresen-Dale; Edith Olah
Journal:  Fam Cancer       Date:  2016-01       Impact factor: 2.375

  6 in total

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