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Items: 1 to 20 of 121

1.

Shining a light on xeroderma pigmentosum.

DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2012 Mar;132(3 Pt 2):785-96. doi: 10.1038/jid.2011.426. Epub 2012 Jan 5. Review.

2.

Spotlight on 'xeroderma pigmentosum'.

Fassihi H.

Photochem Photobiol Sci. 2013 Jan;12(1):78-84. doi: 10.1039/c2pp25267h. Erratum in: Photochem Photobiol Sci. 2014 Sep;13(9):1359.

PMID:
23132518
4.

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH.

Hum Mutat. 2008 Oct;29(10):1194-208. doi: 10.1002/humu.20768.

5.

[Xeroderma pigmentosum].

Takeuchi S.

Nihon Rinsho. 2000 Jul;58(7):1496-500. Review. Japanese.

PMID:
10921330
6.

Cockayne syndrome and xeroderma pigmentosum.

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

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

7.

Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.

Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH.

Ophthalmology. 2013 Jul;120(7):1324-36. doi: 10.1016/j.ophtha.2012.12.044. Epub 2013 Apr 16.

8.

Xeroderma pigmentosum.

Lehmann AR, McGibbon D, Stefanini M.

Orphanet J Rare Dis. 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. Review.

9.

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
10.

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).

Lai JP, Liu YC, Alimchandani M, Liu Q, Aung PP, Matsuda K, Lee CC, Tsokos M, Hewitt S, Rushing EJ, Tamura D, Levens DL, Digiovanna JJ, Fine HA, Patronas N, Khan SG, Kleiner DE, Oberholtzer JC, Quezado MM, Kraemer KH.

Acta Neuropathol Commun. 2013 May 8;1:4. doi: 10.1186/2051-5960-1-4.

11.

A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma.

Sidwell RU, Sandison A, Wing J, Fawcett HD, Seet JE, Fisher C, Nardo T, Stefanini M, Lehmann AR, Cream JJ.

Br J Dermatol. 2006 Jul;155(1):81-8. Review.

PMID:
16792756
12.
13.

Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer.

Muotri AR, Marchetto MC, Zerbini LF, Libermann TA, Ventura AM, Sarasin A, Menck CF.

Hum Gene Ther. 2002 Oct 10;13(15):1833-44.

PMID:
12396616
14.

Forty years of research on xeroderma pigmentosum at the US National Institutes of Health.

Kraemer KH, DiGiovanna JJ.

Photochem Photobiol. 2015 Mar-Apr;91(2):452-9. doi: 10.1111/php.12345. Epub 2015 Jan 8. Review.

15.

The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm.

Kraemer KH, Lee MM, Andrews AD, Lambert WC.

Arch Dermatol. 1994 Aug;130(8):1018-21.

PMID:
8053698
16.

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.

17.

Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum.

Pawsey SA, Magnus IA, Ramsay CA, Benson PF, Giannelli F.

Q J Med. 1979 Apr;48(190):179-210.

PMID:
504548
18.

Defective repair replication of DNA in xeroderma pigmentosum. 1968.

Cleaver JE.

DNA Repair (Amst). 2004 Feb 3;3(2):183-87.

PMID:
15344228
19.

DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells.

Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH.

J Invest Dermatol. 1996 Oct;107(4):647-53.

20.

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
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