Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum-Reference-Cited by-同舟云学术

Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum

Published:2012-05-23 Issue:12 Volume:20 Page:1308-1310
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Tamura Deborah,Khan Sikandar G,Merideth Melissa,DiGiovanna John J,Tucker Margaret A,Goldstein Alisa M,Oh Kyu-Seon,Ueda Takahiro,Boyle Jennifer,Sarihan Mansi,Kraemer Kenneth H

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201290.pdf

Reference27 articles.

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: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. Am J Hum Genet 1998; 63: 1036–1048.

2. Boyle J, Ueda T, Oh KS et alPersistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat 2008; 29: 1194–1208.

3. Dubaele S, Proietti dS, Bienstock RJ et al Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. Mol Cell 2003; 11: 1635–1646.

4. Egly JM, Coin F : A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor. DNA Repair (Amst) 2011; 10: 714–721.

5. Taylor EM, Broughton BC, Botta E et alXeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci USA 1997; 94: 8658–8663.

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