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Items: 1 to 20 of 45

1.

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.

PMID:
11709541
2.

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
3.

Trichothiodystrophy, a transcription syndrome.

Bergmann E, Egly JM.

Trends Genet. 2001 May;17(5):279-86. Review.

PMID:
11335038
4.

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J, et al.

Am J Hum Genet. 1995 Jan;56(1):167-74. Review.

5.

XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase.

Fuss JO, Tainer JA.

DNA Repair (Amst). 2011 Jul 15;10(7):697-713. doi: 10.1016/j.dnarep.2011.04.028. Epub 2011 May 14. Review.

7.

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

Berneburg M, Lehmann AR.

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

PMID:
11037299
8.

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
9.

The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.

Lehmann AR.

Genes Dev. 2001 Jan 1;15(1):15-23. Review. No abstract available.

10.

The 14th Datta Lecture. TFIIH: from transcription to clinic.

Egly JM.

FEBS Lett. 2001 Jun 8;498(2-3):124-8. Review.

11.

Xeroderma pigmentosum and molecular cloning of DNA repair genes.

Boulikas T.

Anticancer Res. 1996 Mar-Apr;16(2):693-708. Review.

PMID:
8687116
12.

Unraveling DNA repair in human: molecular mechanisms and consequences of repair defect.

Tuteja N, Tuteja R.

Crit Rev Biochem Mol Biol. 2001;36(3):261-90. Review.

PMID:
11450971
14.
15.

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.

Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ.

Neuroscience. 2007 Apr 14;145(4):1388-96. Epub 2007 Feb 1. Review.

16.

Nucleotide excision repair and cancer.

Leibeling D, Laspe P, Emmert S.

J Mol Histol. 2006 Sep;37(5-7):225-38. Epub 2006 Jul 20. Review.

PMID:
16855787
17.

Xeroderma pigmentosum--bridging a gap between clinic and laboratory.

Moriwaki S, Kraemer KH.

Photodermatol Photoimmunol Photomed. 2001 Apr;17(2):47-54. Review.

PMID:
11338401
18.

Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer.

van Steeg H, Kraemer KH.

Mol Med Today. 1999 Feb;5(2):86-94. Review.

PMID:
10200950
19.

Cockayne syndrome and xeroderma pigmentosum.

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

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

20.

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