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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. Epub 2012 May 23.


Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

Zhou X, Khan SG, Tamura D, Ueda T, Boyle J, Compe E, Egly JM, DiGiovanna JJ, Kraemer KH.

Eur J Hum Genet. 2013 Aug;21(8):831-7. doi: 10.1038/ejhg.2012.246. Epub 2012 Dec 12.


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. Epub 2008 Oct 10.


Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.

Moslehi R, Kumar A, Mills JL, Ambroggio X, Signore C, Dzutsev A.

Eur J Hum Genet. 2012 Jun;20(6):626-31. doi: 10.1038/ejhg.2011.249. Epub 2012 Jan 11.


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.


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.


Analysis of mutations in the XPD gene in a patient with brittle hair.

Shin S, Kim J, Kim Y, Sun JY, Yoo JH, Lee KA.

Ann Clin Lab Sci. 2013 Summer;43(3):323-7.


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.


High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.

Tamura D, Merideth M, DiGiovanna JJ, Zhou X, Tucker MA, Goldstein AM, Brooks BP, Khan SG, Oh KS, Ueda T, Boyle J, Moslehi R, Kraemer KH.

Prenat Diagn. 2011 Nov;31(11):1046-53. doi: 10.1002/pd.2829. Epub 2011 Jul 29.


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. Epub 2012 Oct 7.


Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.

Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH, Weber CA.

Am J Hum Genet. 1996 Feb;58(2):263-70.


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.


TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.

Singh A, Compe E, Le May N, Egly JM.

Am J Hum Genet. 2015 Feb 5;96(2):194-207. doi: 10.1016/j.ajhg.2014.12.012. Epub 2015 Jan 22.


A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taïeb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A.

Am J Hum Genet. 1997 Feb;60(2):320-9.


The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect.

Berneburg M, Clingen PH, Harcourt SA, Lowe JE, Taylor EM, Green MH, Krutmann J, Arlett CF, Lehmann AR.

Cancer Res. 2000 Jan 15;60(2):431-8.


A Japanese trichothiodystrophy patient with XPD mutations.

Usuda T, Saijo M, Tanaka K, Sato N, Uchiyama M, Kobayashi T.

J Hum Genet. 2011 Jan;56(1):77-9. doi: 10.1038/jhg.2010.123. Epub 2010 Oct 14.


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.

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