99 related articles for article (PubMed ID: 10744426)
1. Analysis of epitope-tagged forms of the dyskeratosis congenital protein (dyskerin): identification of a nuclear localization signal.
Youssoufian H; Gharibyan V; Qatanani M
Blood Cells Mol Dis; 1999; 25(5-6):305-9. PubMed ID: 10744426
[TBL] [Abstract][Full Text] [Related]
2. Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita.
Heiss NS; Girod A; Salowsky R; Wiemann S; Pepperkok R; Poustka A
Hum Mol Genet; 1999 Dec; 8(13):2515-24. PubMed ID: 10556300
[TBL] [Abstract][Full Text] [Related]
3. Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.
Thumati NR; Zeng XL; Au HH; Jang CJ; Jan E; Wong JM
Hum Mutat; 2013 Dec; 34(12):1698-707. PubMed ID: 24115260
[TBL] [Abstract][Full Text] [Related]
4. Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations.
Ashbridge B; Orte A; Yeoman JA; Kirwan M; Vulliamy T; Dokal I; Klenerman D; Balasubramanian S
Biochemistry; 2009 Nov; 48(46):10858-65. PubMed ID: 19835419
[TBL] [Abstract][Full Text] [Related]
5. Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein.
Mori N; Makino T; Mizawa M; Kagoyama K; Kanegane H; Sakaguchi H; Miyazono T; Kojima S; Shimizu T
Eur J Dermatol; 2015; 25(1):75-6. PubMed ID: 25499969
[No Abstract] [Full Text] [Related]
6. Dyskerin Mutations Present in Dyskeratosis Congenita Patients Increase Oxidative Stress and DNA Damage Signalling in
Rodriguez-Centeno J; Perona R; Sastre L
Cells; 2019 Nov; 8(11):. PubMed ID: 31717312
[TBL] [Abstract][Full Text] [Related]
7. GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant Cells.
Iarriccio L; Manguán-García C; Pintado-Berninches L; Mancheño JM; Molina A; Perona R; Sastre L
PLoS One; 2015; 10(11):e0142980. PubMed ID: 26571381
[TBL] [Abstract][Full Text] [Related]
8. Characterization of regions functional in the nuclear localization of the Fanconi anemia group A protein.
Lightfoot J; Alon N; Bosnoyan-Collins L; Buchwald M
Hum Mol Genet; 1999 Jun; 8(6):1007-15. PubMed ID: 10332032
[TBL] [Abstract][Full Text] [Related]
9. A telomerase component is defective in the human disease dyskeratosis congenita.
Mitchell JR; Wood E; Collins K
Nature; 1999 Dec; 402(6761):551-5. PubMed ID: 10591218
[TBL] [Abstract][Full Text] [Related]
10. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
Knight SW; Heiss NS; Vulliamy TJ; Greschner S; Stavrides G; Pai GS; Lestringant G; Varma N; Mason PJ; Dokal I; Poustka A
Am J Hum Genet; 1999 Jul; 65(1):50-8. PubMed ID: 10364516
[TBL] [Abstract][Full Text] [Related]
11. The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.
Qin J; Garus A; Autexier C
Hum Mol Genet; 2024 Feb; 33(4):318-332. PubMed ID: 37879098
[TBL] [Abstract][Full Text] [Related]
12. Dyskeratosis congenita and telomerase.
Bessler M; Wilson DB; Mason PJ
Curr Opin Pediatr; 2004 Feb; 16(1):23-8. PubMed ID: 14758110
[TBL] [Abstract][Full Text] [Related]
13. Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.
Brault ME; Lauzon C; Autexier C
Hum Mol Genet; 2013 Sep; 22(17):3498-507. PubMed ID: 23660516
[TBL] [Abstract][Full Text] [Related]
14. Human dyskerin: beyond telomeres.
Angrisani A; Vicidomini R; Turano M; Furia M
Biol Chem; 2014 Jun; 395(6):593-610. PubMed ID: 24468621
[TBL] [Abstract][Full Text] [Related]
15. SUMOylation- and GAR1-Dependent Regulation of Dyskerin Nuclear and Subnuclear Localization.
MacNeil DE; Lambert-Lanteigne P; Qin J; McManus FP; Bonneil E; Thibault P; Autexier C
Mol Cell Biol; 2021 Mar; 41(4):. PubMed ID: 33526451
[TBL] [Abstract][Full Text] [Related]
16. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ; Dokal I
Biochimie; 2008 Jan; 90(1):122-30. PubMed ID: 17825470
[TBL] [Abstract][Full Text] [Related]
17. Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
Trahan C; Martel C; Dragon F
Hum Mol Genet; 2010 Mar; 19(5):825-36. PubMed ID: 20008900
[TBL] [Abstract][Full Text] [Related]
18. Dyskeratosis congenita: a disorder of defective telomere maintenance?
Walne AJ; Marrone A; Dokal I
Int J Hematol; 2005 Oct; 82(3):184-9. PubMed ID: 16207588
[TBL] [Abstract][Full Text] [Related]
19. Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.
Grozdanov PN; Fernandez-Fuentes N; Fiser A; Meier UT
Hum Mol Genet; 2009 Dec; 18(23):4546-51. PubMed ID: 19734544
[TBL] [Abstract][Full Text] [Related]
20. Mutant dyskerin ends relationship with telomerase.
Shay JW; Wright WE
Science; 1999 Dec; 286(5448):2284-5. PubMed ID: 10636790
[No Abstract] [Full Text] [Related]
[Next] [New Search]
