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Items: 1 to 20 of 116

1.

Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.

Ueda T, Compe E, Catez P, Kraemer KH, Egly JM.

J Exp Med. 2009 Dec 21;206(13):3031-46. doi: 10.1084/jem.20091892. Epub 2009 Nov 23.

2.

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.

3.

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
4.

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.

PMID:
23046824
5.

Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.

Kobayashi T, Uchiyama M, Fukuro S, Tanaka K.

Am J Med Genet. 2002 Jul 1;110(3):248-52.

PMID:
12116233
6.
7.

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.

8.

Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.

Dubaele S, Proietti De Santis L, Bienstock RJ, Keriel A, Stefanini M, Van Houten B, Egly JM.

Mol Cell. 2003 Jun;11(6):1635-46.

9.

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.

10.
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.

PMID:
23800062
12.

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.

Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM.

Nat Genet. 1998 Oct;20(2):184-8.

PMID:
9771713
13.

TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair.

Winkler GS, Araújo SJ, Fiedler U, Vermeulen W, Coin F, Egly JM, Hoeijmakers JH, Wood RD, Timmers HT, Weeda G.

J Biol Chem. 2000 Feb 11;275(6):4258-66.

14.

Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality.

de Boer J, Donker I, de Wit J, Hoeijmakers JH, Weeda G.

Cancer Res. 1998 Jan 1;58(1):89-94.

16.

The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-Cockayne syndrome-like phenotypes.

Herrera-Moyano E, Moriel-Carretero M, Montelone BA, Aguilera A.

PLoS Genet. 2014 Dec 11;10(12):e1004859. doi: 10.1371/journal.pgen.1004859. eCollection 2014 Dec.

17.

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. Epub 2012 Jul 23.

PMID:
22826098
18.

Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.

Kobayashi T, Kuraoka I, Saijo M, Nakatsu Y, Tanaka A, Someda Y, Fukuro S, Tanaka K.

Hum Mutat. 1997;9(4):322-31.

PMID:
9101292
19.

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
20.

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

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