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Items: 1 to 20 of 167

1.

RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome.

Werner SR, Prahalad AK, Yang J, Hock JM.

Biochem Biophys Res Commun. 2006 Jun 23;345(1):403-9. Epub 2006 Apr 27.

PMID:
16678792
2.

Growth retardation and skin abnormalities of the Recql4-deficient mouse.

Hoki Y, Araki R, Fujimori A, Ohhata T, Koseki H, Fukumura R, Nakamura M, Takahashi H, Noda Y, Kito S, Abe M.

Hum Mol Genet. 2003 Sep 15;12(18):2293-9. Epub 2003 Jul 29.

PMID:
12915449
3.

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE.

J Natl Cancer Inst. 2003 May 7;95(9):669-74.

PMID:
12734318
4.

Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents.

Cabral RE, Queille S, Bodemer C, de Prost Y, Neto JB, Sarasin A, Daya-Grosjean L.

Mutat Res. 2008 Aug 25;643(1-2):41-7. doi: 10.1016/j.mrfmmm.2008.06.002. Epub 2008 Jun 21.

PMID:
18616953
5.

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.

Larizza L, Magnani I, Roversi G.

Cancer Lett. 2006 Jan 28;232(1):107-20. Epub 2005 Nov 3. Review.

PMID:
16271439
6.

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.

Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen AM, Peltonen L, Kestilä M.

Hum Mol Genet. 2003 Nov 1;12(21):2837-44. Epub 2003 Sep 2.

PMID:
12952869
7.

Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.

Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A.

Genomics. 1999 Nov 1;61(3):268-76.

PMID:
10552928
8.

RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.

Beghini A, Castorina P, Roversi G, Modiano P, Larizza L.

Am J Med Genet A. 2003 Jul 30;120A(3):395-9.

PMID:
12838562
9.

RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress.

De S, Kumari J, Mudgal R, Modi P, Gupta S, Futami K, Goto H, Lindor NM, Furuichi Y, Mohanty D, Sengupta S.

J Cell Sci. 2012 May 15;125(Pt 10):2509-22. doi: 10.1242/jcs.101501. Epub 2012 Feb 22.

10.

Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.

Mann MB, Hodges CA, Barnes E, Vogel H, Hassold TJ, Luo G.

Hum Mol Genet. 2005 Mar 15;14(6):813-25. Epub 2005 Feb 9.

PMID:
15703196
11.

Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.

Jin W, Liu H, Zhang Y, Otta SK, Plon SE, Wang LL.

Hum Genet. 2008 Jul;123(6):643-53. doi: 10.1007/s00439-008-0518-4. Epub 2008 May 27.

12.

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.

13.

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.

Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y.

Nat Genet. 1999 May;22(1):82-4.

PMID:
10319867
14.

Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice.

Lu H, Fang EF, Sykora P, Kulikowicz T, Zhang Y, Becker KG, Croteau DL, Bohr VA.

Cell Death Dis. 2014 May 15;5:e1226. doi: 10.1038/cddis.2014.168.

15.

The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability.

Petkovic M, Dietschy T, Freire R, Jiao R, Stagljar I.

J Cell Sci. 2005 Sep 15;118(Pt 18):4261-9. Epub 2005 Sep 1. Erratum in: J Cell Sci. 2005 Oct 1;118(Pt 19):4587.

16.
17.

Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome.

Sangrithi MN, Bernal JA, Madine M, Philpott A, Lee J, Dunphy WG, Venkitaraman AR.

Cell. 2005 Jun 17;121(6):887-98.

18.

The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress.

Woo LL, Futami K, Shimamoto A, Furuichi Y, Frank KM.

Exp Cell Res. 2006 Oct 15;312(17):3443-57. Epub 2006 Aug 2.

PMID:
16949575
19.

RECQ DNA helicases and osteosarcoma.

Lu L, Jin W, Liu H, Wang LL.

Adv Exp Med Biol. 2014;804:129-45. doi: 10.1007/978-3-319-04843-7_7. Review.

PMID:
24924172
20.

The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress.

Dietschy T, Shevelev I, Stagljar I.

Cell Mol Life Sci. 2007 Apr;64(7-8):796-802. Review.

PMID:
17364146

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