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Homeostatic imbalance between apoptosis and cell renewal in the liver of premature aging Xpd mice.

Park JY, Cho MO, Leonard S, Calder B, Mian IS, Kim WH, Wijnhoven S, van Steeg H, Mitchell J, van der Horst GT, Hoeijmakers J, Cohen P, Vijg J, Suh Y.

PLoS One. 2008 Jun 11;3(6):e2346. doi: 10.1371/journal.pone.0002346.


Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction.

Wijnhoven SW, Beems RB, Roodbergen M, van den Berg J, Lohman PH, Diderich K, van der Horst GT, Vijg J, Hoeijmakers JH, van Steeg H.

DNA Repair (Amst). 2005 Nov 21;4(11):1314-24.


Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models.

van de Ven M, Andressoo JO, van der Horst GT, Hoeijmakers JH, Mitchell JR.

DNA Repair (Amst). 2012 Nov 1;11(11):874-83. doi: 10.1016/j.dnarep.2012.08.003.


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.


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.


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.


Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.

Schäfer A, Gratchev A, Seebode C, Hofmann L, Schubert S, Laspe P, Apel A, Ohlenbusch A, Tzvetkov M, Weishaupt C, Oji V, Schön MP, Emmert S.

Exp Dermatol. 2013 Jul;22(7):486-9. doi: 10.1111/exd.12166.


Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.

Queille S, Drougard C, Sarasin A, Daya-Grosjean L.

J Invest Dermatol. 2001 Nov;117(5):1162-70.


Ageing: repair and transcription keep us from premature ageing.

Lehmann A.

Curr Biol. 2002 Aug 20;12(16):R550-1.


Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice.

Diderich KE, Nicolaije C, Priemel M, Waarsing JH, Day JS, Brandt RM, Schilling AF, Botter SM, Weinans H, van der Horst GT, Hoeijmakers JH, van Leeuwen JP.

Age (Dordr). 2012 Aug;34(4):845-61. doi: 10.1007/s11357-011-9291-8.


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.


Nucleotide excision DNA repair is associated with age-related vascular dysfunction.

Durik M, Kavousi M, van der Pluijm I, Isaacs A, Cheng C, Verdonk K, Loot AE, Oeseburg H, Bhaggoe UM, Leijten F, van Veghel R, de Vries R, Rudez G, Brandt R, Ridwan YR, van Deel ED, de Boer M, Tempel D, Fleming I, Mitchell GF, Verwoert GC, Tarasov KV, Uitterlinden AG, Hofman A, Duckers HJ, van Duijn CM, Oostra BA, Witteman JC, Duncker DJ, Danser AH, Hoeijmakers JH, Roks AJ.

Circulation. 2012 Jul 24;126(4):468-78. doi: 10.1161/CIRCULATIONAHA.112.104380.


A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.

Falik-Zaccai TC, Erel-Segal R, Horev L, Bitterman-Deutsch O, Koka S, Chaim S, Keren Z, Kalfon L, Gross B, Segal Z, Orgal S, Shoval Y, Slor H, Spivak G, Hanawalt PC.

Environ Mol Mutagen. 2012 Aug;53(7):505-14. doi: 10.1002/em.21716.


The XPD subunit of TFIIH is required for transcription-associated but not DNA double-strand break-induced recombination in mammalian cells.

Savolainen L, Cassel T, Helleday T.

Mutagenesis. 2010 Nov;25(6):623-9. doi: 10.1093/mutage/geq054.


Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice.

Dollé ME, Busuttil RA, Garcia AM, Wijnhoven S, van Drunen E, Niedernhofer LJ, van der Horst G, Hoeijmakers JH, van Steeg H, Vijg J.

Mutat Res. 2006 Apr 11;596(1-2):22-35.


XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.

Fan L, Fuss JO, Cheng QJ, Arvai AS, Hammel M, Roberts VA, Cooper PK, Tainer JA.

Cell. 2008 May 30;133(5):789-800. doi: 10.1016/j.cell.2008.04.030.


Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.

Tamura D, Khan SG, Merideth M, DiGiovanna JJ, Tucker MA, Goldstein AM, Oh KS, Ueda T, Boyle J, Sarihan M, Kraemer KH.

Eur J Hum Genet. 2012 Dec;20(12):1308-10. doi: 10.1038/ejhg.2012.90.


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.

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