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RecQL4 helicase amplification is involved in human breast tumorigenesis.

Fang H, Nie L, Chi Z, Liu J, Guo D, Lu X, Hei TK, Balajee AS, Zhao Y.

PLoS One. 2013 Jul 22;8(7):e69600. doi: 10.1371/journal.pone.0069600. Print 2013.


The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions.

Ferrarelli LK, Popuri V, Ghosh AK, Tadokoro T, Canugovi C, Hsu JK, Croteau DL, Bohr VA.

DNA Repair (Amst). 2013 Jul;12(7):518-28. doi: 10.1016/j.dnarep.2013.04.005. Epub 2013 May 15.


The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients.

Jensen MB, Dunn CA, Keijzers G, Kulikowicz T, Rasmussen LJ, Croteau DL, Bohr VA.

Aging (Albany NY). 2012 Nov;4(11):790-802.


RECQL4 in genomic instability and aging.

Croteau DL, Singh DK, Hoh Ferrarelli L, Lu H, Bohr VA.

Trends Genet. 2012 Dec;28(12):624-31. doi: 10.1016/j.tig.2012.08.003. Epub 2012 Aug 30. Review.


RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.

Croteau DL, Rossi ML, Ross J, Dawut L, Dunn C, Kulikowicz T, Bohr VA.

Biochim Biophys Acta. 2012 Nov;1822(11):1727-34. doi: 10.1016/j.bbadis.2012.07.014. Epub 2012 Jul 31.


RecQL4 cytoplasmic localization: implications in mitochondrial DNA oxidative damage repair.

Chi Z, Nie L, Peng Z, Yang Q, Yang K, Tao J, Mi Y, Fang X, Balajee AS, Zhao Y.

Int J Biochem Cell Biol. 2012 Nov;44(11):1942-51. doi: 10.1016/j.biocel.2012.07.016. Epub 2012 Jul 21.


The N-terminus of the human RecQL4 helicase is a homeodomain-like DNA interaction motif.

Ohlenschläger O, Kuhnert A, Schneider A, Haumann S, Bellstedt P, Keller H, Saluz HP, Hortschansky P, Hänel F, Grosse F, Görlach M, Pospiech H.

Nucleic Acids Res. 2012 Sep 1;40(17):8309-24. Epub 2012 Jun 22.


The helicase domain and C-terminus of human RecQL4 facilitate replication elongation on DNA templates damaged by ionizing radiation.

Kohzaki M, Chiourea M, Versini G, Adachi N, Takeda S, Gagos S, Halazonetis TD.

Carcinogenesis. 2012 Jun;33(6):1203-10. doi: 10.1093/carcin/bgs149. Epub 2012 Apr 16.


RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity.

Croteau DL, Rossi ML, Canugovi C, Tian J, Sykora P, Ramamoorthy M, Wang ZM, Singh DK, Akbari M, Kasiviswanathan R, Copeland WC, Bohr VA.

Aging Cell. 2012 Jun;11(3):456-66. doi: 10.1111/j.1474-9726.2012.00803.x. Epub 2012 Mar 2.


RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance.

Ghosh AK, Rossi ML, Singh DK, Dunn C, Ramamoorthy M, Croteau DL, Liu Y, Bohr VA.

J Biol Chem. 2012 Jan 2;287(1):196-209. doi: 10.1074/jbc.M111.295063. Epub 2011 Oct 28.


RecQL4: a helicase linking formation and maintenance of a replication fork.

Masai H.

J Biochem. 2011 Jun;149(6):629-31. doi: 10.1093/jb/mvr031. Epub 2011 Mar 24.


The N-terminal region of RECQL4 lacking the helicase domain is both essential and sufficient for the viability of vertebrate cells. Role of the N-terminal region of RECQL4 in cells.

Abe T, Yoshimura A, Hosono Y, Tada S, Seki M, Enomoto T.

Biochim Biophys Acta. 2011 Mar;1813(3):473-9. doi: 10.1016/j.bbamcr.2011.01.001. Epub 2011 Jan 20.


Human RecQL4 helicase plays critical roles in prostate carcinogenesis.

Su Y, Meador JA, Calaf GM, Proietti De-Santis L, Zhao Y, Bohr VA, Balajee AS.

Cancer Res. 2010 Nov 15;70(22):9207-17. doi: 10.1158/0008-5472.CAN-10-1743. Epub 2010 Nov 2.


Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding.

Rossi ML, Ghosh AK, Kulikowicz T, Croteau DL, Bohr VA.

DNA Repair (Amst). 2010 Jul 1;9(7):796-804. doi: 10.1016/j.dnarep.2010.04.003. Epub 2010 May 6.


Rothmund-Thomson Syndrome.

Wang LL, Plon SE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1999 Oct 6 [updated 2016 Aug 11].


Baller-Gerold Syndrome.

Van Maldergem L, Piard J, Larizza L, Wang LL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Aug 13 [updated 2018 Apr 19].


The involvement of human RECQL4 in DNA double-strand break repair.

Singh DK, Karmakar P, Aamann M, Schurman SH, May A, Croteau DL, Burks L, Plon SE, Bohr VA.

Aging Cell. 2010 Jun;9(3):358-71. doi: 10.1111/j.1474-9726.2010.00562.x. Epub 2010 Mar 6.


Drosophila RecQ4 has a 3'-5' DNA helicase activity that is essential for viability.

Capp C, Wu J, Hsieh TS.

J Biol Chem. 2009 Nov 6;284(45):30845-52. doi: 10.1074/jbc.M109.008052. Epub 2009 Sep 15.


dRecQ4 is required for DNA synthesis and essential for cell proliferation in Drosophila.

Xu Y, Lei Z, Huang H, Dui W, Liang X, Ma J, Jiao R.

PLoS One. 2009 Jul 2;4(7):e6107. doi: 10.1371/journal.pone.0006107.


Direct and indirect roles of RECQL4 in modulating base excision repair capacity.

Schurman SH, Hedayati M, Wang Z, Singh DK, Speina E, Zhang Y, Becker K, Macris M, Sung P, Wilson DM 3rd, Croteau DL, Bohr VA.

Hum Mol Genet. 2009 Sep 15;18(18):3470-83. doi: 10.1093/hmg/ddp291. Epub 2009 Jun 29.

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