397 related articles for article (PubMed ID: 10364516)
1. 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]
2. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
Heiss NS; Knight SW; Vulliamy TJ; Klauck SM; Wiemann S; Mason PJ; Poustka A; Dokal I
Nat Genet; 1998 May; 19(1):32-8. PubMed ID: 9590285
[TBL] [Abstract][Full Text] [Related]
3. Cloning and characterization of Arabidopsis thaliana AtNAP57--a homologue of yeast pseudouridine synthase Cbf5p.
Maceluch J; Kmieciak M; Szweykowska-Kulińska Z; Jarmołowski A
Acta Biochim Pol; 2001; 48(3):699-709. PubMed ID: 11833778
[TBL] [Abstract][Full Text] [Related]
4. Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.
Ratnasamy V; Navaneethakrishnan S; Sirisena ND; Grüning NM; Brandau O; Thirunavukarasu K; Dagnall CL; McReynolds LJ; Savage SA; Dissanayake VHW
BMC Med Genet; 2018 May; 19(1):85. PubMed ID: 29801475
[TBL] [Abstract][Full Text] [Related]
5. Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.
Ding YG; Zhu TS; Jiang W; Yang Y; Bu DF; Tu P; Zhu XJ; Wang BX
J Invest Dermatol; 2004 Sep; 123(3):470-3. PubMed ID: 15304085
[TBL] [Abstract][Full Text] [Related]
6. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.
Knight SW; Vulliamy TJ; Morgan B; Devriendt K; Mason PJ; Dokal I
Hum Genet; 2001 Apr; 108(4):299-303. PubMed ID: 11379875
[TBL] [Abstract][Full Text] [Related]
7. Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.
Gu BW; Apicella M; Mills J; Fan JM; Reeves DA; French D; Podsakoff GM; Bessler M; Mason PJ
PLoS One; 2015; 10(5):e0127414. PubMed ID: 25992652
[TBL] [Abstract][Full Text] [Related]
8. Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita.
Kanegane H; Kasahara Y; Okamura J; Hongo T; Tanaka R; Nomura K; Kojima S; Miyawaki T
Br J Haematol; 2005 May; 129(3):432-4. PubMed ID: 15842668
[TBL] [Abstract][Full Text] [Related]
9. DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita.
Lin JH; Lee JY; Tsao CJ; Chao SC
Kaohsiung J Med Sci; 2002 Nov; 18(11):573-7. PubMed ID: 12513020
[TBL] [Abstract][Full Text] [Related]
10. Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.
Machado-Pinilla R; Carrillo J; Manguan-Garcia C; Sastre L; Mentzer A; Gu BW; Mason PJ; Perona R
Clin Transl Oncol; 2012 Oct; 14(10):755-63. PubMed ID: 22855157
[TBL] [Abstract][Full Text] [Related]
11. Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier.
Vulliamy TJ; Knight SW; Heiss NS; Smith OP; Poustka A; Dokal I; Mason PJ
Blood; 1999 Aug; 94(4):1254-60. PubMed ID: 10438713
[TBL] [Abstract][Full Text] [Related]
12. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Vulliamy T; Beswick R; Kirwan M; Marrone A; Digweed M; Walne A; Dokal I
Proc Natl Acad Sci U S A; 2008 Jun; 105(23):8073-8. PubMed ID: 18523010
[TBL] [Abstract][Full Text] [Related]
13. Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene.
Hassock S; Vetrie D; Giannelli F
Genomics; 1999 Jan; 55(1):21-7. PubMed ID: 9888995
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. [Clinical and genetic characteristics of a patient with dyskeratosis congenita].
Li JG; Li Y; Lin ZM; Ma ZH; Li JH; Liu R; Shi XD; Yang Y; Wang TY
Zhonghua Er Ke Za Zhi; 2009 Nov; 47(11):867-70. PubMed ID: 20079002
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel mutation in DKC1 in dyskeratosis congenita.
Kurnikova M; Shagina I; Khachatryan L; Schagina O; Maschan M; Shagin D
Pediatr Blood Cancer; 2009 Jan; 52(1):135-7. PubMed ID: 18802941
[TBL] [Abstract][Full Text] [Related]
17. One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC).
Heiss NS; Mégarbané A; Klauck SM; Kreuz FR; Makhoul E; Majewski F; Poustka A
Genet Couns; 2001; 12(2):129-36. PubMed ID: 11491307
[TBL] [Abstract][Full Text] [Related]
18. A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita.
Hiramatsu H; Fujii T; Kitoh T; Sawada M; Osaka M; Koami K; Irino T; Miyajima T; Ito M; Sugiyama T; Okuno T
Pediatr Hematol Oncol; 2002 Sep; 19(6):413-9. PubMed ID: 12186364
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita.
Li S; Duan J; Li D; Ma S; Ye K
EMBO J; 2011 Nov; 30(24):5010-20. PubMed ID: 22117216
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]