| 1 | CDK7, ELL, GTF2H2
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| ELL, a novel TFIIH partner, is involved in transcription restart after DNA repair.
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| Mourgues S, Gautier V, Lagarou A, Bordier C, Mourcet A, Slingerland J, Kaddoum L, Coin F, Vermeulen W, Gonzales de Peredo A, Monsarrat B, Mari PO, Giglia-Mari G.
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| Proc Natl Acad Sci U S A 110(44):17927-32. doi: 10.1073/pnas.1305009110. Epub 2013 Oct 14.
2013
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| 2 | GTF2H2, MMS19
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| Mms19 protein functions in nucleotide excision repair by sustaining an adequate cellular concentration of the TFIIH component Rad3.
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| Kou H, Zhou Y, Gorospe RM, Wang Z.
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| Proc Natl Acad Sci U S A 105(41):15714-9. Epub 2008 Oct 3.
2008
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| 3 | GTF2H2
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| Solution structure of the C-terminal domain of TFIIH P44 subunit reveals a novel type of C4C4 ring domain involved in protein-protein interactions.
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| Kellenberger E, Dominguez C, Fribourg S, Wasielewski E, Moras D, Poterszman A, Boelens R, Kieffer B.
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| J Biol Chem 280(21):20785-92. Epub 2005 Mar 24. 2005
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| 4 | CKN1, GTF2H1, GTF2H2, GTF2H3, GTF2H4, XPD
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| Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
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| 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.
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| Hum Mol Genet 10(22):2539-47. 2001
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| 5 | NAIP, SMN1, SMN2, GTF2H2
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| Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.
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| Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE.
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| Genomics 48(1):121-7. 1998
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| 6 | GTF2H2, SMA
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| The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.
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| BŸrglen L, et al.
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| Am J Hum Genet 60 : 72-79. 1997
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| 7 | GTF2H2
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| A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.
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| Carter TA, et al.
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| Hum Mol Genet 6 : 229-236. 1997
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| 8 | GTF2H2
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| The multiple roles of transcription/repair factor TFIIH.
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| Svejstrup JQ, Vichi P, Egly JM.
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| Trends Biochem Sci 21(9):346-50. Review. 1996
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| 9 | SMA, GTF2H2
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| A provisional transcript map of the spinal muscular atrophy (SMA) critical region.
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| van der Steege G, Draaijers TG, Grootscholten PM, Osinga J, Anzevino R, Velona I, Den Dunnen JT, Scheffer H, Brahe C, van Ommen GJ, et al.
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| Eur J Hum Genet 3(2):87-95. 1995
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| 10 | GTF2H2, GTF2H3
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| p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair.
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| Humbert S, van Vuuren H, Lutz Y, Hoeijmakers JH, Egly JM, Moncollin V.
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| EMBO J 13(10):2393-8. 1994
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