232 related articles for article (PubMed ID: 18637129)
1. Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
Emmert S; Ueda T; Zumsteg U; Weber P; Khan SG; Oh KS; Boyle J; Laspe P; Zachmann K; Boeckmann L; Kuschal C; Bircher A; Kraemer KH
Exp Dermatol; 2009 Jan; 18(1):64-8. PubMed ID: 18637129
[TBL] [Abstract][Full Text] [Related]
2. 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; 2001 Oct; 10(22):2539-47. PubMed ID: 11709541
[TBL] [Abstract][Full Text] [Related]
3. Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.
Zhou X; Khan SG; Tamura D; Ueda T; Boyle J; Compe E; Egly JM; DiGiovanna JJ; Kraemer KH
Eur J Hum Genet; 2013 Aug; 21(8):831-7. PubMed ID: 23232694
[TBL] [Abstract][Full Text] [Related]
4. Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.
Schäfer A; Gratchev A; Seebode C; Hofmann L; Schubert S; Laspe P; Apel A; Ohlenbusch A; Tzvetkov M; Weishaupt C; Oji V; Schön MP; Emmert S
Exp Dermatol; 2013 Jul; 22(7):486-9. PubMed ID: 23800062
[TBL] [Abstract][Full Text] [Related]
5. 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
Hum Mutat; 1997; 9(4):322-31. PubMed ID: 9101292
[TBL] [Abstract][Full Text] [Related]
6. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
Frederick GD; Amirkhan RH; Schultz RA; Friedberg EC
Hum Mol Genet; 1994 Oct; 3(10):1783-8. PubMed ID: 7849702
[TBL] [Abstract][Full Text] [Related]
7. 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
Proc Natl Acad Sci U S A; 1997 Aug; 94(16):8658-63. PubMed ID: 9238033
[TBL] [Abstract][Full Text] [Related]
8. A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.
Ono R; Masaki T; Mayca Pozo F; Nakazawa Y; Swagemakers SM; Nakano E; Sakai W; Takeuchi S; Kanda F; Ogi T; van der Spek PJ; Sugasawa K; Nishigori C
Photodermatol Photoimmunol Photomed; 2016 Jul; 32(4):174-80. PubMed ID: 26993158
[TBL] [Abstract][Full Text] [Related]
9. Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.
Nishiwaki T; Kobayashi N; Iwamoto T; Yamamoto A; Sugiura S; Liu YC; Sarasin A; Okahashi Y; Hirano M; Ueno S; Mori T
DNA Repair (Amst); 2008 Dec; 7(12):1990-8. PubMed ID: 18817897
[TBL] [Abstract][Full Text] [Related]
10. 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
Am J Med Genet; 2002 Jul; 110(3):248-52. PubMed ID: 12116233
[TBL] [Abstract][Full Text] [Related]
11. A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
Falik-Zaccai TC; Erel-Segal R; Horev L; Bitterman-Deutsch O; Koka S; Chaim S; Keren Z; Kalfon L; Gross B; Segal Z; Orgal S; Shoval Y; Slor H; Spivak G; Hanawalt PC
Environ Mol Mutagen; 2012 Aug; 53(7):505-14. PubMed ID: 22826098
[TBL] [Abstract][Full Text] [Related]
12. Functional retroviral vector for gene therapy of xeroderma pigmentosum group D patients.
Carreau M; Quilliet X; Eveno E; Salvetti A; Danos O; Heard JM; Mezzina M; Sarasin A
Hum Gene Ther; 1995 Oct; 6(10):1307-15. PubMed ID: 8590735
[TBL] [Abstract][Full Text] [Related]
13. Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.
Queille S; Drougard C; Sarasin A; Daya-Grosjean L
J Invest Dermatol; 2001 Nov; 117(5):1162-70. PubMed ID: 11710928
[TBL] [Abstract][Full Text] [Related]
14. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
Graham JM; Anyane-Yeboa K; Raams A; Appeldoorn E; Kleijer WJ; Garritsen VH; Busch D; Edersheim TG; Jaspers NG
Am J Hum Genet; 2001 Aug; 69(2):291-300. PubMed ID: 11443545
[TBL] [Abstract][Full Text] [Related]
15. Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
Takayama K; Salazar EP; Lehmann A; Stefanini M; Thompson LH; Weber CA
Cancer Res; 1995 Dec; 55(23):5656-63. PubMed ID: 7585650
[TBL] [Abstract][Full Text] [Related]
16. Some mutations in the xeroderma pigmentosum D gene may lead to moderate but significant radiosensitivity associated with a delayed radiation-induced ATM nuclear localization.
Ferlazzo M; Berthel E; Granzotto A; Devic C; Sonzogni L; Bachelet JT; Pereira S; Bourguignon M; Sarasin A; Mezzina M; Foray N
Int J Radiat Biol; 2020 Mar; 96(3):394-410. PubMed ID: 31738647
[No Abstract] [Full Text] [Related]
17. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
Broughton BC; Thompson AF; Harcourt SA; Vermeulen W; Hoeijmakers JH; Botta E; Stefanini M; King MD; Weber CA; Cole J
Am J Hum Genet; 1995 Jan; 56(1):167-74. PubMed ID: 7825573
[TBL] [Abstract][Full Text] [Related]
18. Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
Espi P; Parajuli S; Benfodda M; Lebre AS; Paudel U; Grange A; Grybek V; Grange T; Soufir N; Grange F
J Eur Acad Dermatol Venereol; 2018 May; 32(5):832-839. PubMed ID: 29178624
[TBL] [Abstract][Full Text] [Related]
19. Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models.
van de Ven M; Andressoo JO; van der Horst GT; Hoeijmakers JH; Mitchell JR
DNA Repair (Amst); 2012 Nov; 11(11):874-83. PubMed ID: 23046824
[TBL] [Abstract][Full Text] [Related]
20. 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
Cancer Res; 1999 Jul; 59(14):3489-94. PubMed ID: 10416615
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
