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Li, V. ERCC2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5395 (accessed on 21 September 2026).
Li V. ERCC2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5395. Accessed September 21, 2026.
Li, Vivi. "ERCC2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5395 (accessed September 21, 2026).
Li, V. (2020, December 24). ERCC2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5395
Li, Vivi. "ERCC2 Gene." Encyclopedia. Web. 24 December, 2020.
ERCC2 Gene
Edit

ERCC excision repair 2, TFIIH core complex helicase subunit

genes

References

  1. Botta E, Nardo T, Broughton BC, Marinoni S, Lehmann AR, Stefanini M. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: siteof mutation correlates with repair deficiency, but gene dosage appears todetermine clinical severity. Am J Hum Genet. 1998 Oct;63(4):1036-48.
  2. Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C,Digiovanna JJ, Kraemer KH. Persistence of repair proteins at unrepaired DNAdamage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat. 2008Oct;29(10):1194-208. doi: 10.1002/humu.20768.
  3. Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, StefaniniM, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR. Two individuals with features of both xerodermapigmentosum and trichothiodystrophy highlight the complexity of the clinicaloutcomes of mutations in the XPD gene. Hum Mol Genet. 2001 Oct 15;10(22):2539-47.
  4. Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J, et al. Molecular and cellular analysis ofthe DNA repair defect in a patient in xeroderma pigmentosum complementation groupD who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.Am J Hum Genet. 1995 Jan;56(1):167-74. Review.
  5. Faghri S, Tamura D, Kraemer KH, Digiovanna JJ. Trichothiodystrophy: asystematic review of 112 published cases characterises a wide spectrum ofclinical manifestations. J Med Genet. 2008 Oct;45(10):609-21. doi:10.1136/jmg.2008.058743.
  6. Lambert WC, Gagna CE, Lambert MW. Xeroderma pigmentosum: its overlap withtrichothiodystrophy, Cockayne syndrome and other progeroid syndromes. Adv Exp MedBiol. 2008;637:128-37. Review.
  7. Lehmann AR. The xeroderma pigmentosum group D (XPD) gene: one gene, twofunctions, three diseases. Genes Dev. 2001 Jan 1;15(1):15-23. Review.
  8. Nishiwaki T, Kobayashi N, Iwamoto T, Yamamoto A, Sugiura S, Liu YC, Sarasin A,Okahashi Y, Hirano M, Ueno S, Mori T. Comparative study of nucleotide excisionrepair defects between XPD-mutated fibroblasts derived from trichothiodystrophyand xeroderma pigmentosum patients. DNA Repair (Amst). 2008 Dec 1;7(12):1990-8.doi: 10.1016/j.dnarep.2008.08.009.
  9. Oksenych V, Coin F. The long unwinding road: XPB and XPD helicases in damaged DNA opening. Cell Cycle. 2010 Jan 1;9(1):90-6.
  10. Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR. Xeroderma pigmentosum andtrichothiodystrophy are associated with different mutations in the XPD (ERCC2)repair/transcription gene. Proc Natl Acad Sci U S A. 1997 Aug 5;94(16):8658-63.
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