Similar articles for PMID: 11709541

Year	Number of Results
1974	1
1986	3
1987	2
1989	1
1991	1
1992	2
1993	3
1994	11
1995	10
1996	8
1997	9
1998	8
1999	8
2000	7
2001	18
2002	6
2003	9
2004	5
2005	7
2006	11
2007	4
2008	14
2009	11
2010	13
2011	11
2012	18
2013	18
2014	12
2015	12
2016	5
2017	9
2018	10
2019	19
2020	23
2021	20
2022	22
2023	5
2024	1

1

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. Broughton BC, et al. Hum Mol Genet. 2001 Oct 15;10(22):2539-47. doi: 10.1093/hmg/10.22.2539. Hum Mol Genet. 2001. PMID: 11709541

2

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taïeb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A. Weeda G, et al. Am J Hum Genet. 1997 Feb;60(2):320-9. Am J Hum Genet. 1997. PMID: 9012405 Free PMC article.

3

Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.

Kobayashi T, Uchiyama M, Fukuro S, Tanaka K. Kobayashi T, et al. Am J Med Genet. 2002 Jul 1;110(3):248-52. doi: 10.1002/ajmg.10465. Am J Med Genet. 2002. PMID: 12116233

4

The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect.

Berneburg M, Clingen PH, Harcourt SA, Lowe JE, Taylor EM, Green MH, Krutmann J, Arlett CF, Lehmann AR. Berneburg M, et al. Cancer Res. 2000 Jan 15;60(2):431-8. Cancer Res. 2000. PMID: 10667598

5

Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.

de Boer J, van Steeg H, Berg RJ, Garssen J, de Wit J, van Oostrum CT, Beems RB, van der Horst GT, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH, Weeda G. de Boer J, et al. Cancer Res. 1999 Jul 15;59(14):3489-94. Cancer Res. 1999. PMID: 10416615

6

Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.

Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH, Weber CA. Takayama K, et al. Am J Hum Genet. 1996 Feb;58(2):263-70. Am J Hum Genet. 1996. PMID: 8571952 Free PMC article.

7

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.

Botta E, Nardo T, Broughton BC, Marinoni S, Lehmann AR, Stefanini M. Botta E, et al. Am J Hum Genet. 1998 Oct;63(4):1036-48. doi: 10.1086/302063. Am J Hum Genet. 1998. PMID: 9758621 Free PMC article.

8

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH. Boyle J, et al. Hum Mutat. 2008 Oct;29(10):1194-208. doi: 10.1002/humu.20768. Hum Mutat. 2008. PMID: 18470933 Free PMC article.

9

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR. Taylor EM, et al. Proc Natl Acad Sci U S A. 1997 Aug 5;94(16):8658-63. doi: 10.1073/pnas.94.16.8658. Proc Natl Acad Sci U S A. 1997. PMID: 9238033 Free PMC article.

10

Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.

Kobayashi T, Kuraoka I, Saijo M, Nakatsu Y, Tanaka A, Someda Y, Fukuro S, Tanaka K. Kobayashi T, et al. Hum Mutat. 1997;9(4):322-31. doi: 10.1002/(SICI)1098-1004(1997)9:4<322::AID-HUMU4>3.0.CO;2-7. Hum Mutat. 1997. PMID: 9101292

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