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Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome.

Chabosseau P, Buhagiar-Labarchède G, Onclercq-Delic R, Lambert S, Debatisse M, Brison O, Amor-Guéret M.

Nat Commun. 2011 Jun 28;2:368. doi: 10.1038/ncomms1363.


Pyrimidine Pool Disequilibrium Induced by a Cytidine Deaminase Deficiency Inhibits PARP-1 Activity, Leading to the Under Replication of DNA.

Gemble S, Ahuja A, Buhagiar-Labarchède G, Onclercq-Delic R, Dairou J, Biard DS, Lambert S, Lopes M, Amor-Guéret M.

PLoS Genet. 2015 Jul 16;11(7):e1005384. doi: 10.1371/journal.pgen.1005384. eCollection 2015 Jul.


Correction of the Bloom syndrome cellular phenotypes.

Giesler T, Baker K, Zhang B, McDaniel LD, Schultz RA.

Somat Cell Mol Genet. 1997 Sep;23(5):303-12.


Bloom helicase is involved in DNA surveillance in early S phase in vertebrate cells.

Imamura O, Fujita K, Shimamoto A, Tanabe H, Takeda S, Furuichi Y, Matsumoto T.

Oncogene. 2001 Mar 8;20(10):1143-51.


Deficiency of Bloom syndrome helicase activity is radiomimetic.

Horowitz DP, Topaloglu O, Zhang Y, Bunz F.

Cancer Biol Ther. 2008 Nov;7(11):1783-6. Epub 2008 Nov 4.


A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.

Ben Salah G, Hadj Salem I, Masmoudi A, Kallabi F, Turki H, Fakhfakh F, Ayadi H, Kamoun H.

Mol Biol Rep. 2014 Nov;41(11):7373-80. doi: 10.1007/s11033-014-3624-5. Epub 2014 Aug 17.


Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.

Hudson DF, Amor DJ, Boys A, Butler K, Williams L, Zhang T, Kalitsis P.

PLoS Genet. 2016 Dec 15;12(12):e1006483. doi: 10.1371/journal.pgen.1006483. eCollection 2016 Dec.


Aberrant chromosome morphology in human cells defective for Holliday junction resolution.

Wechsler T, Newman S, West SC.

Nature. 2011 Mar 31;471(7340):642-6. doi: 10.1038/nature09790. Epub 2011 Mar 13.


Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.

Ellis NA, Proytcheva M, Sanz MM, Ye TZ, German J.

Am J Hum Genet. 1999 Nov;65(5):1368-74.


Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis.

Amor-Guéret M.

Cancer Lett. 2006 May 8;236(1):1-12. Epub 2005 Jun 13. Review.


Role of the BLM helicase in replication fork management.

Wu L.

DNA Repair (Amst). 2007 Jul 1;6(7):936-44. Epub 2007 Mar 23. Review.


Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome.

Suhasini AN, Rawtani NA, Wu Y, Sommers JA, Sharma S, Mosedale G, North PS, Cantor SB, Hickson ID, Brosh RM Jr.

EMBO J. 2011 Feb 16;30(4):692-705. doi: 10.1038/emboj.2010.362. Epub 2011 Jan 14.


The human Bloom syndrome gene suppresses the DNA replication and repair defects of yeast dna2 mutants.

Imamura O, Campbell JL.

Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8193-8. Epub 2003 Jun 25.


Mutator Phenotype and DNA Double-Strand Break Repair in BLM Helicase-Deficient Human Cells.

Suzuki T, Yasui M, Honma M.

Mol Cell Biol. 2016 Nov 14;36(23):2877-2889. Print 2016 Dec 1.


Intrachromosomal recombination between highly diverged DNA sequences is enabled in human cells deficient in Bloom helicase.

Wang Y, Li S, Smith K, Waldman BC, Waldman AS.

DNA Repair (Amst). 2016 May;41:73-84. doi: 10.1016/j.dnarep.2016.03.005. Epub 2016 Apr 6.


Endogenous gamma-H2AX-ATM-Chk2 checkpoint activation in Bloom's syndrome helicase deficient cells is related to DNA replication arrested forks.

Rao VA, Conti C, Guirouilh-Barbat J, Nakamura A, Miao ZH, Davies SL, Saccá B, Hickson ID, Bensimon A, Pommier Y.

Mol Cancer Res. 2007 Jul;5(7):713-24.


Bloom DNA helicase facilitates homologous recombination between diverged homologous sequences.

Kikuchi K, Abdel-Aziz HI, Taniguchi Y, Yamazoe M, Takeda S, Hirota K.

J Biol Chem. 2009 Sep 25;284(39):26360-7. doi: 10.1074/jbc.M109.029348. Epub 2009 Aug 5.


The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.

Neff NF, Ellis NA, Ye TZ, Noonan J, Huang K, Sanz M, Proytcheva M.

Mol Biol Cell. 1999 Mar;10(3):665-76.

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