157 related articles for article (PubMed ID: 34593652)
1. Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap.
Abiona A; Cordeiro N; Fawcett H; Tamura D; Khan SG; DiGiovanna JJ; Lehmann AR; Fassihi H
Pediatrics; 2021 Oct; 148(4):. PubMed ID: 34593652
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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
Hum Mutat; 2008 Oct; 29(10):1194-208. PubMed ID: 18470933
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
Tamura D; Khan SG; Merideth M; DiGiovanna JJ; Tucker MA; Goldstein AM; Oh KS; Ueda T; Boyle J; Sarihan M; Kraemer KH
Eur J Hum Genet; 2012 Dec; 20(12):1308-10. PubMed ID: 22617342
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
Singh A; Compe E; Le May N; Egly JM
Am J Hum Genet; 2015 Feb; 96(2):194-207. PubMed ID: 25620205
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Xeroderma pigmentosum: its overlap with trichothiodystrophy, Cockayne syndrome and other progeroid syndromes.
Lambert WC; Gagna CE; Lambert MW
Adv Exp Med Biol; 2008; 637():128-37. PubMed ID: 19181118
[No Abstract] [Full Text] [Related]
11. 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]
12. Metronidazole-induced hepatotoxicity in a patient with xeroderma pigmentosum: A case report.
Vanoli J; Nava M; Invernizzi C; Panizzuti F; Grassi G
Medicine (Baltimore); 2022 May; 101(21):e29416. PubMed ID: 35623073
[TBL] [Abstract][Full Text] [Related]
13. TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Lanzafame M; Nardo T; Ricotti R; Pantaleoni C; D'Arrigo S; Stanzial F; Benedicenti F; Thomas MA; Stefanini M; Orioli D; Botta E
Hum Mutat; 2022 Dec; 43(12):2222-2233. PubMed ID: 36259739
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
Andressoo JO; Mitchell JR; de Wit J; Hoogstraten D; Volker M; Toussaint W; Speksnijder E; Beems RB; van Steeg H; Jans J; de Zeeuw CI; Jaspers NG; Raams A; Lehmann AR; Vermeulen W; Hoeijmakers JH; van der Horst GT
Cancer Cell; 2006 Aug; 10(2):121-32. PubMed ID: 16904611
[TBL] [Abstract][Full Text] [Related]
16. XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.
Fan L; Fuss JO; Cheng QJ; Arvai AS; Hammel M; Roberts VA; Cooper PK; Tainer JA
Cell; 2008 May; 133(5):789-800. PubMed ID: 18510924
[TBL] [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. Novel ERCC2 mutation in two siblings with trichothiodystrophy.
Lund EB; Stein SL
Pediatr Dermatol; 2019 Sep; 36(5):668-671. PubMed ID: 31282071
[TBL] [Abstract][Full Text] [Related]
19. Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy.
Norris PG; Limb GA; Hamblin AS; Lehmann AR; Arlett CF; Cole J; Waugh AP; Hawk JL
J Invest Dermatol; 1990 Jan; 94(1):94-100. PubMed ID: 2295840
[TBL] [Abstract][Full Text] [Related]
20. Heterogeneity and overlaps in nucleotide excision repair disorders.
Ferri D; Orioli D; Botta E
Clin Genet; 2020 Jan; 97(1):12-24. PubMed ID: 30919937
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]