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Items: 1 to 20 of 78

1.
2.

Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.

de Boer J, van Steeg H, Berg RJ, Garssen J, de Wit J, van Oostrum CT, Beems RB, van der Horst GT, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH, Weeda G.

Cancer Res. 1999 Jul 15;59(14):3489-94.

3.

Tissue specific mutagenic and carcinogenic responses in NER defective mouse models.

Wijnhoven SW, Hoogervorst EM, de Waard H, van der Horst GT, van Steeg H.

Mutat Res. 2007 Jan 3;614(1-2):77-94. Review.

PMID:
16769089
4.

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
5.
6.

Nucleotide excision repair and human syndromes.

de Boer J, Hoeijmakers JH.

Carcinogenesis. 2000 Mar;21(3):453-60. Review.

PMID:
10688865
7.

Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.

Nishiwaki T, Kobayashi N, Iwamoto T, Yamamoto A, Sugiura S, Liu YC, Sarasin A, Okahashi Y, Hirano M, Ueno S, Mori T.

DNA Repair (Amst). 2008 Dec 1;7(12):1990-8. doi: 10.1016/j.dnarep.2008.08.009. Epub 2008 Oct 10.

PMID:
18817897
9.

Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription.

Berneburg M, Lehmann AR.

Adv Genet. 2001;43:71-102. Review.

PMID:
11037299
10.

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.

11.
12.

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.

13.

UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice.

van der Horst GT, Meira L, Gorgels TG, de Wit J, Velasco-Miguel S, Richardson JA, Kamp Y, Vreeswijk MP, Smit B, Bootsma D, Hoeijmakers JH, Friedberg EC.

DNA Repair (Amst). 2002 Feb 28;1(2):143-57.

PMID:
12509261
14.

Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus.

Armelini MG, Muotri AR, Marchetto MC, de Lima-Bessa KM, Sarasin A, Menck CF.

Cancer Gene Ther. 2005 Apr;12(4):389-96.

PMID:
15650764
15.

Cell-type-specific consequences of nucleotide excision repair deficiencies: Embryonic stem cells versus fibroblasts.

de Waard H, Sonneveld E, de Wit J, Esveldt-van Lange R, Hoeijmakers JH, Vrieling H, van der Horst GT.

DNA Repair (Amst). 2008 Oct 1;7(10):1659-69. doi: 10.1016/j.dnarep.2008.06.009. Epub 2008 Jul 26.

PMID:
18634906
16.

Nucleotide excision repair syndromes: molecular basis and clinical symptoms.

Bootsma D, Weeda G, Vermeulen W, van Vuuren H, Troelstra C, van der Spek P, Hoeijmakers J.

Philos Trans R Soc Lond B Biol Sci. 1995 Jan 30;347(1319):75-81. Review.

PMID:
7746858
17.

Bacterial DNA repair genes and their eukaryotic homologues: 4. The role of nucleotide excision DNA repair (NER) system in mammalian cells.

Maddukuri L, DudziƄska D, Tudek B.

Acta Biochim Pol. 2007;54(3):469-82. Epub 2007 Sep 23. Review.

18.

Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence.

Weeda G, Donker I, de Wit J, Morreau H, Janssens R, Vissers CJ, Nigg A, van Steeg H, Bootsma D, Hoeijmakers JH.

Curr Biol. 1997 Jun 1;7(6):427-39.

19.

Codominance associated with overexpression of certain XPD mutations.

Kadkhodayan S, Coin F, Salazar EP, George JW, Egly JM, Thompson LH.

Mutat Res. 2001 Mar 7;485(2):153-68.

PMID:
11182546
20.

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer WJ, Lehmann AR, Sarasin A.

Carcinogenesis. 1993 Jun;14(6):1101-5.

PMID:
8508495

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