1 | GTF2H5
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| TTDA inhibited apoptosis by regulating the p53-Bax/Bcl2 axis in glioma.
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| Bai HL, Kang CM, Sun ZQ, Li XH, Dai XY, Huang RY, Zhao JJ, Bei YR, Huang XZ, Lu ZF, Wu SG, Lu JB, Ping BH, Wang Q, Hu YW.
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| Exp Neurol. Sep;331:113380. doi: 10.1016/j.expneurol.2020.113380. Epub 2020 Jun 12. PMID: 2020
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2 | GTF2H5, TTDA
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| A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report.
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| Michalska E, Koppolu A, Dobrzańska A, Płoski R, Gruszfeld D.
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| Eur J Med Genet. Sep;62(9):103557. doi: 10.1016/j.ejmg.2018.10.009. Epub 2018 Oct 22. 2019
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3 | GTF2H5
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| Small molecule-based targeting of TTD-A dimerization to control TFIIH transcriptional activity represents a potential strategy for anticancer therapy.
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| Gervais V, Muller I, Mari PO, Mourcet A, Movellan KT, Ramos P, Marcoux J, Guillet V, Javaid S, Burlet-Schiltz O, Czaplicki G, Milon A, Giglia-Mari G.
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| J Biol Chem. Sep 28;293(39):14974-14988. doi: 10.1074/jbc.RA118.003444. Epub 2018 Aug 1. 2018
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4 | ERCC2, ERCC3, GTF2H5, TTDA, TTDP, TTDP2, XPB, XPD
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| TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription.
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| Singh A, Compe E, Le May N, Egly JM.
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| Am J Hum Genet 96(2):194-207. doi: 10.1016/j.ajhg.2014.12.012. Epub 2015 Jan 22.
2015
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5 | GTF2H5, TTDA
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| Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.
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| Moriwaki S, Saruwatari H, Kanzaki T, Kanekura T, Minoshima S.
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| J Dermatol 41(8):705-8. doi: 10.1111/1346-8138.12549. Epub 2014 Jul 2.
2014
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6 | GTF2H5, XPA
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| Sequential and ordered assembly of a large DNA repair complex on undamaged chromatin.
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| Ziani S, Nagy Z, Alekseev S, Soutoglou E, Egly JM, Coin F.
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| J Cell Biol 206(5):589-98. doi: 10.1083/jcb.201403096. Epub 2014 Aug 25.
2014
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7 | GTF2H5
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| TTDA: big impact of a small protein.
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| Theil AF, Hoeijmakers JH, Vermeulen W.
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| Exp Cell Res 329(1):61-8. doi: 10.1016/j.yexcr.2014.07.008. Epub 2014 Jul 10. Review.
2014
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8 | GTF2H4, GTF2H5
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| In vivo interactions of TTDA mutant proteins within TFIIH.
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| Nonnekens J, Cabantous S, Slingerland J, Mari PO, Giglia-Mari G.
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| J Cell Sci 126(Pt 15):3278-83. doi: 10.1242/jcs.126839. Epub 2013 May 31.
2013
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9 | GTF2H5, TTDA
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| Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing
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| Nonnekens J, Perez-Fernandez J, Theil AF, Gadal O, Bonnart C, Giglia-Mari G.
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| Hum Mol Genet. Jul 15;22(14):2881-93. doi: 10.1093/hmg/ddt143. Epub 2013 Apr 4. 2013
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10 | GTF2H5, TTDA
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| Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.
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| Theil AF, Nonnekens J, Wijgers N, Vermeulen W, Giglia-Mari G.
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| Mol Cell Biol 31(17):3630-8. doi: 10.1128/MCB.01462-10. Epub 2011 Jul 5.
2011
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11 | C7ORF11, ERCC2, GTF2H5, TTDA, TTDN1, XPD
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| Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.
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| Hashimoto S, Egly JM.
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| Hum Mol Genet 18(R2):R224-30. Review.PMID: 19808800 2009
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12 | ERCC2, GTF2H5, TTDA, XPD
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| Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
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| Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH.
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| Hum Mutat 29(10):1194-208.
2008
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13 | GTF2H5
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| Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy.
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| Vitorino M, Coin F, Zlobinskaya O, Atkinson RA, Moras D, Egly JM, Poterszman A, Kieffer B.
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| J Mol Biol 368(2):473-80. Epub 2007 Feb 20. 2007
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14 | GTF2H5, TTDA
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| Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH.
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| Compe E, Malerba M, Soler L, Marescaux J, Borrelli E, Egly JM.
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| Nat Neurosci 10(11):1414-22. Epub 2007 Oct 21. 2007
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15 | GTF2H5, TTDA
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| A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
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| Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W.
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| Nat Genet 36(7):714-9. Epub 2004 Jun 27. 2004
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16 | GTF2H5, TTDA
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| Identification of TFB5, a new component of general transcription and DNA repair factor IIH.
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| Ranish JA, Hahn S, Lu Y, Yi EC, Li XJ, Eng J, Aebersold R.
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| Nat Genet 36(7):707-13. Epub 2004 Jun 27. 2004
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