210 related articles for article (PubMed ID: 30516811)
21. Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
Messaoud O; Rekaya MB; Ouragini H; Benfadhel S; Azaiez H; Kefi R; Gouider-Khouja N; Mokhtar I; Amouri A; Boubaker MS; Zghal M; Abdelhak S
Arch Dermatol Res; 2012 Mar; 304(2):171-6. PubMed ID: 22081045
[TBL] [Abstract][Full Text] [Related]
22. Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
Tamhankar PM; Iyer SV; Ravindran S; Gupta N; Kabra M; Nayak C; Kura M; Sanghavi S; Joshi R; Chennuri VS; Khopkar U
Indian J Dermatol Venereol Leprol; 2015; 81(1):16-22. PubMed ID: 25566891
[TBL] [Abstract][Full Text] [Related]
23. Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer.
Muotri AR; Marchetto MC; Zerbini LF; Libermann TA; Ventura AM; Sarasin A; Menck CF
Hum Gene Ther; 2002 Oct; 13(15):1833-44. PubMed ID: 12396616
[TBL] [Abstract][Full Text] [Related]
24. Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
Zhou EY; Wang H; Lin Z; Xu G; Ma Z; Zhao J; Feng C; Duo L; Yin J; Yang Y
J Dermatol; 2017 Jan; 44(1):71-75. PubMed ID: 27607234
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Breast cancer risk is not associated with polymorphic forms of xeroderma pigmentosum genes in a cohort of women from Washington County, Maryland.
Jorgensen TJ; Visvanathan K; Ruczinski I; Thuita L; Hoffman S; Helzlsouer KJ
Breast Cancer Res Treat; 2007 Jan; 101(1):65-71. PubMed ID: 16823510
[TBL] [Abstract][Full Text] [Related]
27. Founder mutations in xeroderma pigmentosum.
Tamura D; DiGiovanna JJ; Kraemer KH
J Invest Dermatol; 2010 Jun; 130(6):1491-3. PubMed ID: 20463673
[TBL] [Abstract][Full Text] [Related]
28. Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.
Matsumura Y; Nishigori C; Yagi T; Imamura S; Takebe H
Hum Mol Genet; 1998 Jun; 7(6):969-74. PubMed ID: 9580660
[TBL] [Abstract][Full Text] [Related]
29. Association between DNA repair-deficiency and high level of p53 mutations in melanoma of Xeroderma pigmentosum.
Spatz A; Giglia-Mari G; Benhamou S; Sarasin A
Cancer Res; 2001 Mar; 61(6):2480-6. PubMed ID: 11289118
[TBL] [Abstract][Full Text] [Related]
30. Spotlight on 'xeroderma pigmentosum'.
Fassihi H
Photochem Photobiol Sci; 2013 Jan; 12(1):78-84. PubMed ID: 23132518
[TBL] [Abstract][Full Text] [Related]
31. Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
Khan SG; Metin A; Gozukara E; Inui H; Shahlavi T; Muniz-Medina V; Baker CC; Ueda T; Aiken JR; Schneider TD; Kraemer KH
Hum Mol Genet; 2004 Feb; 13(3):343-52. PubMed ID: 14662655
[TBL] [Abstract][Full Text] [Related]
32. Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.
Kindil Z; Senhaji MA; Bakhchane A; Charoute H; Chihab S; Nadifi S; Barakat A
BMC Res Notes; 2017 Dec; 10(1):704. PubMed ID: 29208038
[TBL] [Abstract][Full Text] [Related]
33. Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Garcia-Moreno H; Langbehn DR; Abiona A; Garrood I; Fleszar Z; Manes MA; Morley AMS; Craythorne E; Mohammed S; Henshaw T; Turner S; Naik H; Bodi I; Sarkany RPE; Fassihi H; Lehmann AR; Giunti P
Brain; 2023 Dec; 146(12):5044-5059. PubMed ID: 38040034
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. 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]
37. In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum.
Nasir M; Ahmad N; Sieber CM; Latif A; Malik SA; Hameed A
J Biomed Sci; 2013 Sep; 20(1):70. PubMed ID: 24063568
[TBL] [Abstract][Full Text] [Related]
38. Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.
Rabie E; Amr K; Zada S; El-Sayed H; El Darouti M; El-Kamah G
Genes (Basel); 2021 Feb; 12(2):. PubMed ID: 33672602
[TBL] [Abstract][Full Text] [Related]
39. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.
Hirai Y; Kodama Y; Moriwaki S; Noda A; Cullings HM; Macphee DG; Kodama K; Mabuchi K; Kraemer KH; Land CE; Nakamura N
Mutat Res; 2006 Oct; 601(1-2):171-8. PubMed ID: 16905156
[TBL] [Abstract][Full Text] [Related]
40. Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.
Bernardes de Jesus BM; Bjørås M; Coin F; Egly JM
Mol Cell Biol; 2008 Dec; 28(23):7225-35. PubMed ID: 18809580
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]