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