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Items: 8

1.
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
K. Takayama, E. P. Salazar, B. C. Broughton, A. R. Lehmann, A. Sarasin, L. H. Thompson, C. A. Weber
Am J Hum Genet. 1996 Feb; 58(2): 263–270.
PMCID:
PMC1914548
SummaryPage BrowsePDF–1.4M
2.
The DNA repair genes XPB and XPD defend cells from retroviral infection
Kristine Yoder, Alain Sarasin, Kenneth Kraemer, Michael McIlhatton, Frederic Bushman, Richard Fishel
Proc Natl Acad Sci U S A. 2006 Mar 21; 103(12): 4622–4627. Published online 2006 Mar 13. doi: 10.1073/pnas.0509828103
PMCID:
PMC1450221
AbstractArticlePDF–621K
3.
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.
E Botta, T Nardo, B C Broughton, S Marinoni, A R Lehmann, M Stefanini
Am J Hum Genet. 1998 Oct; 63(4): 1036–1048. doi: 10.1086/302063
PMCID:
PMC1377495
Abstract
4.
Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy
John M. Graham, Jr., Kwame Anyane-Yeboa, Anja Raams, Esther Appeldoorn, Wim J. Kleijer, Victor H. Garritsen, David Busch, Terri G. Edersheim, Nicolaas G. J. Jaspers
Am J Hum Genet. 2001 Aug; 69(2): 291–300. Published online 2001 Jul 3. doi: 10.1086/321295
PMCID:
PMC1235303
AbstractArticlePDF–405K
5.
ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3.
C A Weber, E P Salazar, S A Stewart, L H Thompson
EMBO J. 1990 May; 9(5): 1437–1447. doi: 10.1002/j.1460-2075.1990.tb08260.x
PMCID:
PMC551832
SummaryPage BrowsePDF–2.3M
6.
Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells.
C A Weber, E P Salazar, S A Stewart, L H Thompson
Mol Cell Biol. 1988 Mar; 8(3): 1137–1146. doi: 10.1128/mcb.8.3.1137
PMCID:
PMC363258
SummaryPage BrowsePDF–2.2M
7.
Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene.
W L Flejter, L D McDaniel, D Johns, E C Friedberg, R A Schultz
Proc Natl Acad Sci U S A. 1992 Jan 1; 89(1): 261–265. doi: 10.1073/pnas.89.1.261
PMCID:
PMC48216
SummaryPage BrowsePDF–1.1M
8.
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene
Elaine M. Taylor, Bernard C. Broughton, Elena Botta, Miria Stefanini, Alain Sarasin, Nicolaas G. J. Jaspers, Heather Fawcett, Susan A. Harcourt, Colin F. Arlett, Alan R. Lehmann
Proc Natl Acad Sci U S A. 1997 Aug 5; 94(16): 8658–8663. doi: 10.1073/pnas.94.16.8658
PMCID:
PMC23065
AbstractArticlePDF–438K

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