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Items: 1 to 20 of 108

1.

Nucleotide Excision Repair and Transcriptional Regulation: TFIIH and Beyond.

Compe E, Egly JM.

Annu Rev Biochem. 2016 Jun 2;85:265-90. doi: 10.1146/annurev-biochem-060815-014857. Review.

PMID:
27294439
2.

Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.

Theil AF, Nonnekens J, Wijgers N, Vermeulen W, Giglia-Mari G.

Mol Cell Biol. 2011 Sep;31(17):3630-8. doi: 10.1128/MCB.01462-10. Epub 2011 Jul 5.

3.

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.

4.

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.

5.

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
6.

A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor.

Egly JM, Coin F.

DNA Repair (Amst). 2011 Jul 15;10(7):714-21. doi: 10.1016/j.dnarep.2011.04.021. Epub 2011 May 17. Review.

PMID:
21592869
7.

Nucleotide excision repair/transcription gene defects in the fetus and impaired TFIIH-mediated function in transcription in placenta leading to preeclampsia.

Moslehi R, Ambroggio X, Nagarajan V, Kumar A, Dzutsev A.

BMC Genomics. 2014 May 15;15:373. doi: 10.1186/1471-2164-15-373.

8.

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.

9.
10.

Role of XPD in cellular functions: To TFIIH and beyond.

Houten BV, Kuper J, Kisker C.

DNA Repair (Amst). 2016 Aug;44:136-142. doi: 10.1016/j.dnarep.2016.05.019. Epub 2016 May 16. Review.

PMID:
27262611
11.

Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.

Hashimoto S, Egly JM.

Hum Mol Genet. 2009 Oct 15;18(R2):R224-30. doi: 10.1093/hmg/ddp390. Review.

PMID:
19808800
12.

Trichothiodystrophy: from basic mechanisms to clinical implications.

Stefanini M, Botta E, Lanzafame M, Orioli D.

DNA Repair (Amst). 2010 Jan 2;9(1):2-10. doi: 10.1016/j.dnarep.2009.10.005. Review.

PMID:
19931493
13.

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M.

Am J Hum Genet. 2016 Apr 7;98(4):627-42. doi: 10.1016/j.ajhg.2016.02.008. Epub 2016 Mar 17.

14.

Architecture of the Human and Yeast General Transcription and DNA Repair Factor TFIIH.

Luo J, Cimermancic P, Viswanath S, Ebmeier CC, Kim B, Dehecq M, Raman V, Greenberg CH, Pellarin R, Sali A, Taatjes DJ, Hahn S, Ranish J.

Mol Cell. 2015 Sep 3;59(5):794-806. doi: 10.1016/j.molcel.2015.07.016.

15.

TFIIH: a link between transcription, DNA repair and cell cycle regulation.

Seroz T, Hwang JR, Moncollin V, Egly JM.

Curr Opin Genet Dev. 1995 Apr;5(2):217-21. Review.

PMID:
7613092
16.

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.

Botta E, Nardo T, Orioli D, Guglielmino R, Ricotti R, Bondanza S, Benedicenti F, Zambruno G, Stefanini M.

Hum Mutat. 2009 Mar;30(3):438-45. doi: 10.1002/humu.20912.

PMID:
19085937
17.

Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome.

Chiganças V, Lima-Bessa KM, Stary A, Menck CF, Sarasin A.

Cancer Res. 2008 Aug 1;68(15):6074-83. doi: 10.1158/0008-5472.CAN-07-6695.

18.
19.

p8/TTDA overexpression enhances UV-irradiation resistance and suppresses TFIIH mutations in a Drosophila trichothiodystrophy model.

Aguilar-Fuentes J, Fregoso M, Herrera M, Reynaud E, Braun C, Egly JM, Zurita M.

PLoS Genet. 2008 Nov;4(11):e1000253. doi: 10.1371/journal.pgen.1000253. Epub 2008 Nov 14.

20.

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.

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