Literature DB >> 7603564

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.

C Jones1, L Penny, T Mattina, S Yu, E Baker, L Voullaire, W Y Langdon, G R Sutherland, R I Richards, A Tunnacliffe.   

Abstract

The fragile site FRA11B has been localized to the p(CCG)n repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q-) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)n expansion, which was truncated close to FRA11B. These results have broad implications for the role of p(CCG)n repeat expansion in the aetiology of genetic disease involving chromosome rearrangements.

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Year:  1995        PMID： 7603564     DOI： 10.1038/376145a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


  41 in total

1.  Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability.

Authors:  A Hellman; A Rahat; S W Scherer; A Darvasi; L C Tsui; B Kerem
Journal:  Mol Cell Biol       Date:  2000-06       Impact factor: 4.272

2.  Long-distance control of origin choice and replication timing in the human beta-globin locus are independent of the locus control region.

Authors:  D M Cimbora; D Schübeler; A Reik; J Hamilton; C Francastel; E M Epner; M Groudine
Journal:  Mol Cell Biol       Date:  2000-08       Impact factor: 4.272

3.  Molecular basis for expression of common and rare fragile sites.

Authors:  Eitan Zlotorynski; Ayelet Rahat; Jennifer Skaug; Neta Ben-Porat; Efrat Ozeri; Ruth Hershberg; Ayala Levi; Stephen W Scherer; Hanah Margalit; Batsheva Kerem
Journal:  Mol Cell Biol       Date:  2003-10       Impact factor: 4.272

4.  Sequence conservation at human and mouse orthologous common fragile regions, FRA3B/FHIT and Fra14A2/Fhit.

Authors:  T Shiraishi; T Druck; K Mimori; J Flomenberg; L Berk; H Alder; W Miller; K Huebner; C M Croce
Journal:  Proc Natl Acad Sci U S A       Date:  2001-04-24       Impact factor: 11.205

Review 5.  Comparative genomics and molecular dynamics of DNA repeats in eukaryotes.

Authors:  Guy-Franck Richard; Alix Kerrest; Bernard Dujon
Journal:  Microbiol Mol Biol Rev       Date:  2008-12       Impact factor: 11.056

6.  Anticipation in familial leukemia.

Authors:  M Horwitz; E L Goode; G P Jarvik
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

7.  The enigma of common fragile sites.

Authors:  I Simonic; G S Gericke
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

8.  A heritable folate-sensitive fragile site on chromosome 2p 11.2 (FRA2L).

Authors:  S Schuffenhauer; G Lederer; J Murken
Journal:  Chromosome Res       Date:  1996-04       Impact factor: 5.239

9.  Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.

Authors:  D Mishmar; A Rahat; S W Scherer; G Nyakatura; B Hinzmann; Y Kohwi; Y Mandel-Gutfroind; J R Lee; B Drescher; D E Sas; H Margalit; M Platzer; A Weiss; L C Tsui; A Rosenthal; B Kerem
Journal:  Proc Natl Acad Sci U S A       Date:  1998-07-07       Impact factor: 11.205

10.  Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q.

Authors:  A Tunnacliffe; C Jones; D Le Paslier; R Todd; D Cherif; M Birdsall; L Devenish; C Yousry; F E Cotter; M R James
Journal:  Genome Res       Date:  1999-01       Impact factor: 9.043
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