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Items: 1 to 20 of 98

1.

In vivo interactions of TTDA mutant proteins within TFIIH.

Nonnekens J, Cabantous S, Slingerland J, Mari PO, Giglia-Mari G.

J Cell Sci. 2013 Aug 1;126(Pt 15):3278-83. doi: 10.1242/jcs.126839. Epub 2013 May 31.

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.

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.

4.

Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality.

Theil AF, Nonnekens J, Steurer B, Mari PO, de Wit J, Lemaitre C, Marteijn JA, Raams A, Maas A, Vermeij M, Essers J, Hoeijmakers JH, Giglia-Mari G, Vermeulen W.

PLoS Genet. 2013 Apr;9(4):e1003431. doi: 10.1371/journal.pgen.1003431. Epub 2013 Apr 18.

5.

Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells.

Giglia-Mari G, Miquel C, Theil AF, Mari PO, Hoogstraten D, Ng JM, Dinant C, Hoeijmakers JH, Vermeulen W.

PLoS Biol. 2006 Jun;4(6):e156. Epub 2006 May 9.

6.

Structural basis for group A trichothiodystrophy.

Kainov DE, Vitorino M, Cavarelli J, Poterszman A, Egly JM.

Nat Struct Mol Biol. 2008 Sep;15(9):980-4.

PMID:
19172752
7.

TTDA: big impact of a small protein.

Theil AF, Hoeijmakers JH, Vermeulen W.

Exp Cell Res. 2014 Nov 15;329(1):61-8. doi: 10.1016/j.yexcr.2014.07.008. Epub 2014 Jul 10. Review.

PMID:
25016283
8.

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
9.

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
10.

Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing.

Nonnekens J, Perez-Fernandez J, Theil AF, Gadal O, Bonnart C, Giglia-Mari G.

Hum Mol Genet. 2013 Jul 15;22(14):2881-93. doi: 10.1093/hmg/ddt143. Epub 2013 Apr 4.

PMID:
23562818
11.

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
12.

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
13.

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.

14.

XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.

Orioli D, Compe E, Nardo T, Mura M, Giraudon C, Botta E, Arrigoni L, Peverali FA, Egly JM, Stefanini M.

Hum Mol Genet. 2013 Mar 15;22(6):1061-73. doi: 10.1093/hmg/dds508. Epub 2012 Dec 5.

PMID:
23221806
15.

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
16.

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.

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.

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
19.
20.

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.

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