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Items: 1 to 20 of 29

1.

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
2.

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
3.

[Functional analysis of yeast homologue gene associated with human DNA helicase causative syndromes].

Miyajima A.

Kokuritsu Iyakuhin Shokuhin Eisei Kenkyusho Hokoku. 2002;(120):53-74. Review. Japanese.

PMID:
12638184
4.

DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.

Mohaghegh P, Hickson ID.

Hum Mol Genet. 2001 Apr;10(7):741-6. Review.

PMID:
11257107
5.

Function of recQ family helicase in genome stability.

Seki M, Tada S, Enomoto T.

Subcell Biochem. 2006;40:49-73. Review.

PMID:
17623900
6.

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
7.
8.

The versatile RECQL4.

Kellermayer R.

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

PMID:
16617241
9.

Rothmund-Thomson syndrome.

Larizza L, Roversi G, Volpi L.

Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Review.

10.

Premature aging in RecQ helicase-deficient human syndromes.

Mohaghegh P, Hickson ID.

Int J Biochem Cell Biol. 2002 Nov;34(11):1496-501. Review.

PMID:
12200042
11.

DNA helicases, genomic instability, and human genetic disease.

van Brabant AJ, Stan R, Ellis NA.

Annu Rev Genomics Hum Genet. 2000;1:409-59. Review.

PMID:
11701636
12.

Role of the Bloom's syndrome helicase in maintenance of genome stability.

Hickson ID, Davies SL, Li JL, Levitt NC, Mohaghegh P, North PS, Wu L.

Biochem Soc Trans. 2001 May;29(Pt 2):201-4. Review.

PMID:
11356154
13.

Premature aging and predisposition to cancers caused by mutations in RecQ family helicases.

Furuichi Y.

Ann N Y Acad Sci. 2001 Apr;928:121-31. Review.

PMID:
11795503
14.

Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.

Simon T, Kohlhase J, Wilhelm C, Kochanek M, De Carolis B, Berthold F.

Am J Med Genet A. 2010 Jun;152A(6):1575-9. doi: 10.1002/ajmg.a.33427. Review.

PMID:
20503338
15.

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
16.

[DNA helicases and human diseases].

Uhring M, Poterszman A.

Med Sci (Paris). 2006 Dec;22(12):1087-94. Review. French.

17.

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.

18.

RecQ family helicases in genome stability: lessons from gene disruption studies in DT40 cells.

Seki M, Otsuki M, Ishii Y, Tada S, Enomoto T.

Cell Cycle. 2008 Aug 15;7(16):2472-8. Epub 2008 Aug 18. Review.

PMID:
18719387
19.

Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology.

Monnat RJ Jr.

Semin Cancer Biol. 2010 Oct;20(5):329-39. doi: 10.1016/j.semcancer.2010.10.002. Epub 2010 Oct 8. Review.

20.

Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.

Lu L, Jin W, Wang LL.

Ageing Res Rev. 2017 Jan;33:30-35. doi: 10.1016/j.arr.2016.06.002. Epub 2016 Jun 7. Review.

PMID:
27287744

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