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Results: 1 to 20 of 28

References for PMC Articles for PubMed (Select 17020410)

1.

An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.

Andressoo JO, Mitchell JR, de Wit J, Hoogstraten D, Volker M, Toussaint W, Speksnijder E, Beems RB, van Steeg H, Jans J, de Zeeuw CI, Jaspers NG, Raams A, Lehmann AR, Vermeulen W, Hoeijmakers JH, van der Horst GT.

Cancer Cell. 2006 Aug;10(2):121-32.

2.

From proteomics to disease.

Kraemer KH.

Nat Genet. 2004 Jul;36(7):677-8. No abstract available.

PMID:
15226750
3.

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.

Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W.

Nat Genet. 2004 Jul;36(7):714-9. Epub 2004 Jun 27.

PMID:
15220921
4.

The phenotypic consequences of CFTR mutations.

Rowntree RK, Harris A.

Ann Hum Genet. 2003 Sep;67(Pt 5):471-85. Review.

PMID:
12940920
5.

Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.

Dubaele S, Proietti De Santis L, Bienstock RJ, Keriel A, Stefanini M, Van Houten B, Egly JM.

Mol Cell. 2003 Jun;11(6):1635-46.

PMID:
12820975
6.

Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways.

Jaspers NG, Raams A, Kelner MJ, Ng JM, Yamashita YM, Takeda S, McMorris TC, Hoeijmakers JH.

DNA Repair (Amst). 2002 Dec 5;1(12):1027-38.

PMID:
12531012
7.

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.

Botta E, Nardo T, Lehmann AR, Egly JM, Pedrini AM, Stefanini M.

Hum Mol Genet. 2002 Nov 1;11(23):2919-28.

8.

Premature aging in mice deficient in DNA repair and transcription.

de Boer J, Andressoo JO, de Wit J, Huijmans J, Beems RB, van Steeg H, Weeda G, van der Horst GT, van Leeuwen W, Themmen AP, Meradji M, Hoeijmakers JH.

Science. 2002 May 17;296(5571):1276-9. Epub 2002 Apr 11.

9.

Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.

Viprakasit V, Gibbons RJ, Broughton BC, Tolmie JL, Brown D, Lunt P, Winter RM, Marinoni S, Stefanini M, Brueton L, Lehmann AR, Higgs DR.

Hum Mol Genet. 2001 Nov 15;10(24):2797-802.

10.

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR.

Hum Mol Genet. 2001 Oct 15;10(22):2539-47.

11.

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG.

Am J Hum Genet. 2001 Aug;69(2):291-300. Epub 2001 Jul 3.

12.

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.

Itin PH, Sarasin A, Pittelkow MR.

J Am Acad Dermatol. 2001 Jun;44(6):891-920; quiz 921-4. Review.

PMID:
11369901
13.

A temperature-sensitive disorder in basal transcription and DNA repair in humans.

Vermeulen W, Rademakers S, Jaspers NG, Appeldoorn E, Raams A, Klein B, Kleijer WJ, Hansen LK, Hoeijmakers JH.

Nat Genet. 2001 Mar;27(3):299-303.

PMID:
11242112
14.

Cockayne syndrome and xeroderma pigmentosum.

Rapin I, Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH.

Neurology. 2000 Nov 28;55(10):1442-9. Review.

15.

Helicases and aging.

Nakura J, Ye L, Morishima A, Kohara K, Miki T.

Cell Mol Life Sci. 2000 May;57(5):716-30. Review.

PMID:
10892338
16.

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

Cleaver JE, Thompson LH, Richardson AS, States JC.

Hum Mutat. 1999;14(1):9-22. Review.

PMID:
10447254
17.

A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy.

de Boer J, de Wit J, van Steeg H, Berg RJ, Morreau H, Visser P, Lehmann AR, Duran M, Hoeijmakers JH, Weeda G.

Mol Cell. 1998 Jun;1(7):981-90.

18.

Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality.

de Boer J, Donker I, de Wit J, Hoeijmakers JH, Weeda G.

Cancer Res. 1998 Jan 1;58(1):89-94.

20.

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR.

Proc Natl Acad Sci U S A. 1997 Aug 5;94(16):8658-63.

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