Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 142

1.

RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.

Yin J, Kwon YT, Varshavsky A, Wang W.

Hum Mol Genet. 2004 Oct 15;13(20):2421-30. Epub 2004 Aug 18.

PMID:
15317757
2.

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
3.

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
4.

The versatile RECQL4.

Kellermayer R.

Genet Med. 2006 Apr;8(4):213-6. Review.

PMID:
16617241
5.

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.

6.

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.

7.

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
8.

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
9.

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
10.

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
11.

RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex.

Shamanna RA, Singh DK, Lu H, Mirey G, Keijzers G, Salles B, Croteau DL, Bohr VA.

Carcinogenesis. 2014 Nov;35(11):2415-24. doi: 10.1093/carcin/bgu137. Epub 2014 Jun 18.

12.

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
13.

Impaired neurogenesis and cardiovascular development in mice lacking the E3 ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.

An JY, Seo JW, Tasaki T, Lee MJ, Varshavsky A, Kwon YT.

Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6212-7. Epub 2006 Apr 10.

14.

Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4.

Ohhata T, Araki R, Fukumura R, Kuroiwa A, Matsuda Y, Tatsumi K, Abe M.

Gene. 2000 Dec 31;261(2):251-8.

PMID:
11167012
15.

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.

16.

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
17.

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.

18.

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
19.

A family of mammalian E3 ubiquitin ligases that contain the UBR box motif and recognize N-degrons.

Tasaki T, Mulder LC, Iwamatsu A, Lee MJ, Davydov IV, Varshavsky A, Muesing M, Kwon YT.

Mol Cell Biol. 2005 Aug;25(16):7120-36.

20.

Supplemental Content

Support Center