219 related articles for article (PubMed ID: 34353901)
21. Dyskeratosis congenita: its link to telomerase and aplastic anaemia.
Dokal I; Vulliamy T
Blood Rev; 2003 Dec; 17(4):217-25. PubMed ID: 14556776
[TBL] [Abstract][Full Text] [Related]
22. Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita.
Ly H; Schertzer M; Jastaniah W; Davis J; Yong SL; Ouyang Q; Blackburn EH; Parslow TG; Lansdorp PM
Blood; 2005 Aug; 106(4):1246-52. PubMed ID: 15886322
[TBL] [Abstract][Full Text] [Related]
23. Comparable Effects of the Androgen Derivatives Danazol, Oxymetholone and Nandrolone on Telomerase Activity in Human Primary Hematopoietic Cells from Patients with Dyskeratosis Congenita.
Vieri M; Kirschner M; Tometten M; Abels A; Rolles B; Isfort S; Panse J; Brümmendorf TH; Beier F
Int J Mol Sci; 2020 Sep; 21(19):. PubMed ID: 33003434
[TBL] [Abstract][Full Text] [Related]
24. Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation.
Cerone MA; Ward RJ; Londoño-Vallejo JA; Autexier C
Cell Cycle; 2005 Apr; 4(4):585-9. PubMed ID: 15753647
[TBL] [Abstract][Full Text] [Related]
25. Human telomere disease due to disruption of the CCAAT box of the TERC promoter.
Aalbers AM; Kajigaya S; van den Heuvel-Eibrink MM; van der Velden VH; Calado RT; Young NS
Blood; 2012 Mar; 119(13):3060-3. PubMed ID: 22323451
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.
Marrone A; Sokhal P; Walne A; Beswick R; Kirwan M; Killick S; Williams M; Marsh J; Vulliamy T; Dokal I
Haematologica; 2007 Aug; 92(8):1013-20. PubMed ID: 17640862
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
Zeng XL; Thumati NR; Fleisig HB; Hukezalie KR; Savage SA; Giri N; Alter BP; Wong JM
Hum Mol Genet; 2012 Feb; 21(4):721-9. PubMed ID: 22058290
[TBL] [Abstract][Full Text] [Related]
30. Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome.
Field JJ; Mason PJ; An P; Kasai Y; McLellan M; Jaeger S; Barnes YJ; King AA; Bessler M; Wilson DB
J Pediatr Hematol Oncol; 2006 Jul; 28(7):450-3. PubMed ID: 16825992
[TBL] [Abstract][Full Text] [Related]
31. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Marrone A; Walne A; Tamary H; Masunari Y; Kirwan M; Beswick R; Vulliamy T; Dokal I
Blood; 2007 Dec; 110(13):4198-205. PubMed ID: 17785587
[TBL] [Abstract][Full Text] [Related]
32. Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts.
Westin ER; Chavez E; Lee KM; Gourronc FA; Riley S; Lansdorp PM; Goldman FD; Klingelhutz AJ
Aging Cell; 2007 Jun; 6(3):383-94. PubMed ID: 17381549
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. 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]
35. Dyskeratosis congenita: a genetic disorder of many faces.
Kirwan M; Dokal I
Clin Genet; 2008 Feb; 73(2):103-12. PubMed ID: 18005359
[TBL] [Abstract][Full Text] [Related]
36. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA.
Fogarty PF; Yamaguchi H; Wiestner A; Baerlocher GM; Sloand E; Zeng WS; Read EJ; Lansdorp PM; Young NS
Lancet; 2003 Nov; 362(9396):1628-30. PubMed ID: 14630445
[TBL] [Abstract][Full Text] [Related]
37. Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.
Aslan D; Akata RF; Holme H; Vulliamy T; Dokal I
Int Ophthalmol; 2012 Dec; 32(6):615-22. PubMed ID: 22814958
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Posttranscriptional manipulation of TERC reverses molecular hallmarks of telomere disease.
Boyraz B; Moon DH; Segal M; Muosieyiri MZ; Aykanat A; Tai AK; Cahan P; Agarwal S
J Clin Invest; 2016 Sep; 126(9):3377-82. PubMed ID: 27482890
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
