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Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases.
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Chromosome instability syndromes.
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Uncoupling of transcription and translation of Fanconi anemia (FANC) complex proteins during spermatogenesis.
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FANCD2 regulates BLM complex functions independently of FANCI to promote replication fork recovery.
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The Werner and Bloom syndrome proteins help resolve replication blockage by converting (regressed) holliday junctions to functional replication forks.
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Expanded roles of the Fanconi anemia pathway in preserving genomic stability.
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本文引用的文献
1
BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome.
Genes Dev. 2008 Oct 15;22(20):2856-68. doi: 10.1101/gad.1725108.
2
RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability.
Genes Dev. 2008 Oct 15;22(20):2843-55. doi: 10.1101/gad.1708608.
3
A RECQ5-RNA polymerase II association identified by targeted proteomic analysis of human chromatin.
Proc Natl Acad Sci U S A. 2008 Jun 24;105(25):8580-4. doi: 10.1073/pnas.0804424105. Epub 2008 Jun 18.
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Association of human DNA helicase RecQ5beta with RNA polymerase II and its possible role in transcription.
Biochem J. 2008 Aug 1;413(3):505-16. doi: 10.1042/BJ20071392.
5
Functional role of BLAP75 in BLM-topoisomerase IIIalpha-dependent holliday junction processing.
J Biol Chem. 2008 Jun 6;283(23):15701-8. doi: 10.1074/jbc.M802127200. Epub 2008 Apr 4.
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RecQ helicases: guardian angels of the DNA replication fork.
Chromosoma. 2008 Jun;117(3):219-33. doi: 10.1007/s00412-007-0142-4. Epub 2008 Jan 11.
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RECQL5/Recql5 helicase regulates homologous recombination and suppresses tumor formation via disruption of Rad51 presynaptic filaments.
Genes Dev. 2007 Dec 1;21(23):3073-84. doi: 10.1101/gad.1609107. Epub 2007 Nov 14.
8
Binding and activation of DNA topoisomerase III by the Rmi1 subunit.
J Biol Chem. 2007 Sep 28;282(39):28971-28979. doi: 10.1074/jbc.M705427200. Epub 2007 Aug 9.
9
DNA helicases required for homologous recombination and repair of damaged replication forks.
Annu Rev Genet. 2006;40:279-306. doi: 10.1146/annurev.genet.40.110405.090636.
10
A double Holliday junction dissolvasome comprising BLM, topoisomerase IIIalpha, and BLAP75.
J Biol Chem. 2006 May 19;281(20):13861-4. doi: 10.1074/jbc.C600051200. Epub 2006 Apr 4.
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