169 related articles for article (PubMed ID: 15744458)
1. Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.
Ridley AJ; Colley J; Wynford-Thomas D; Jones CJ
J Hum Genet; 2005; 50(3):151-154. PubMed ID: 15744458
[TBL] [Abstract][Full Text] [Related]
2. CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.
Cao H; Williams C; Carter M; Hegele RA
J Hum Genet; 2004; 49(1):61-63. PubMed ID: 14661080
[TBL] [Abstract][Full Text] [Related]
3. Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice.
Rainey RN; Ng SY; Llamas J; van der Horst GT; Segil N
J Neurosci; 2016 Apr; 36(17):4758-70. PubMed ID: 27122034
[TBL] [Abstract][Full Text] [Related]
4. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Oh KS; Khan SG; Jaspers NG; Raams A; Ueda T; Lehmann A; Friedmann PS; Emmert S; Gratchev A; Lachlan K; Lucassan A; Baker CC; Kraemer KH
Hum Mutat; 2006 Nov; 27(11):1092-103. PubMed ID: 16947863
[TBL] [Abstract][Full Text] [Related]
5. Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
Emmert S; Slor H; Busch DB; Batko S; Albert RB; Coleman D; Khan SG; Abu-Libdeh B; DiGiovanna JJ; Cunningham BB; Lee MM; Crollick J; Inui H; Ueda T; Hedayati M; Grossman L; Shahlavi T; Cleaver JE; Kraemer KH
J Invest Dermatol; 2002 Jun; 118(6):972-82. PubMed ID: 12060391
[TBL] [Abstract][Full Text] [Related]
6. Xeroderma pigmentosum and molecular cloning of DNA repair genes.
Boulikas T
Anticancer Res; 1996; 16(2):693-708. PubMed ID: 8687116
[TBL] [Abstract][Full Text] [Related]
7. Characterisation of a novel missense mutation in the
Stehnach WC; Cantor A; Bongiorno M
BMJ Case Rep; 2023 Oct; 16(10):. PubMed ID: 37848274
[TBL] [Abstract][Full Text] [Related]
8. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Khan SG; Oh KS; Shahlavi T; Ueda T; Busch DB; Inui H; Emmert S; Imoto K; Muniz-Medina V; Baker CC; DiGiovanna JJ; Schmidt D; Khadavi A; Metin A; Gozukara E; Slor H; Sarasin A; Kraemer KH
Carcinogenesis; 2006 Jan; 27(1):84-94. PubMed ID: 16081512
[TBL] [Abstract][Full Text] [Related]
9. [Trichothiodystrophies: anomalies of the repair and transcription of genes].
Robert C; Sarasin A
Ann Dermatol Venereol; 1999 Oct; 126(10):669-71. PubMed ID: 10604001
[No Abstract] [Full Text] [Related]
10. Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription.
Schäfer A; Schubert S; Gratchev A; Seebode C; Apel A; Laspe P; Hofmann L; Ohlenbusch A; Mori T; Kobayashi N; Schürer A; Schön MP; Emmert S
J Invest Dermatol; 2013 Jul; 133(7):1841-9. PubMed ID: 23370536
[TBL] [Abstract][Full Text] [Related]
11. Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant.
Gu Y; Chang X; Dai S; Song Q; Zhao H; Lei P
Gene; 2017 Sep; 628():162-169. PubMed ID: 28669926
[TBL] [Abstract][Full Text] [Related]
12. Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.
Bensenouci S; Louhibi L; De Verneuil H; Mahmoudi K; Saidi-Mehtar N
Biomed Res Int; 2016; 2016():2180946. PubMed ID: 27413738
[TBL] [Abstract][Full Text] [Related]
13. Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.
Cui YP; Chen YY; Wang XM; Wang XL; Nan X; Zhao H
Pediatr Neurol; 2015 Sep; 53(3):262-5. PubMed ID: 26173784
[TBL] [Abstract][Full Text] [Related]
14. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.
Lehmann AR
Genes Dev; 2001 Jan; 15(1):15-23. PubMed ID: 11156600
[No Abstract] [Full Text] [Related]
15. Complementation of transformed fibroblasts from patients with combined xeroderma pigmentosum-Cockayne syndrome.
Ellison AR; Nouspikel T; Jaspers NG; Clarkson SG; Gruenert DC
Exp Cell Res; 1998 Aug; 243(1):22-8. PubMed ID: 9716445
[TBL] [Abstract][Full Text] [Related]
16. Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.
Soltys DT; Rocha CR; Lerner LK; de Souza TA; Munford V; Cabral F; Nardo T; Stefanini M; Sarasin A; Cabral-Neto JB; Menck CF
Hum Mutat; 2013 Mar; 34(3):481-9. PubMed ID: 23255472
[TBL] [Abstract][Full Text] [Related]
17. The genetic defect in DNA repair deficiency syndromes. EACR--Mühlbock Memorial Lecture, 1993.
Bootsma D
Eur J Cancer; 1993; 29A(10):1482-8. PubMed ID: 8398280
[No Abstract] [Full Text] [Related]
18. Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells.
Dianov GL; Houle JF; Iyer N; Bohr VA; Friedberg EC
Nucleic Acids Res; 1997 Sep; 25(18):3636-42. PubMed ID: 9278484
[TBL] [Abstract][Full Text] [Related]
19. Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.
Hijazi H; Salih MA; Hamad MH; Hassan HH; Salih SB; Mohamed KA; Mukhtar MM; Karrar ZA; Ansari S; Ibrahim N; Alkuraya FS
Clin Genet; 2015; 87(1):56-61. PubMed ID: 24354460
[TBL] [Abstract][Full Text] [Related]
20. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.
Gozukara EM; Khan SG; Metin A; Emmert S; Busch DB; Shahlavi T; Coleman DM; Miller M; Chinsomboon N; Stefanini M; Kraemer KH
J Invest Dermatol; 2001 Aug; 117(2):197-204. PubMed ID: 11511294
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
