Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 129

1.

HuR regulates telomerase activity through TERC methylation.

Tang H, Wang H, Cheng X, Fan X, Yang F, Zhang M, Chen Y, Tian Y, Liu C, Shao D, Jiang B, Dou Y, Cong Y, Xing J, Zhang X, Yi X, Songyang Z, Ma W, Zhao Y, Wang X, Ma J, Gorospe M, Ju Z, Wang W.

Nat Commun. 2018 Jun 7;9(1):2213. doi: 10.1038/s41467-018-04617-7. Erratum in: Nat Commun. 2018 Jul 10;9(1):2721.

2.

Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency.

Marrone A, Stevens D, Vulliamy T, Dokal I, Mason PJ.

Blood. 2004 Dec 15;104(13):3936-42. Epub 2004 Aug 19.

PMID:
15319288
3.

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. Epub 2007 Jul 20.

4.

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Vulliamy TJ, Dokal I.

Biochimie. 2008 Jan;90(1):122-30. Epub 2007 Jul 31. Review.

PMID:
17825470
5.
6.

Dyskeratosis congenita: telomerase, telomeres and anticipation.

Marrone A, Walne A, Dokal I.

Curr Opin Genet Dev. 2005 Jun;15(3):249-57. Review.

PMID:
15917199
7.

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Du HY, Pumbo E, Ivanovich J, An P, Maziarz RT, Reiss UM, Chirnomas D, Shimamura A, Vlachos A, Lipton JM, Goyal RK, Goldman F, Wilson DB, Mason PJ, Bessler M.

Blood. 2009 Jan 8;113(2):309-16. doi: 10.1182/blood-2008-07-166421. Epub 2008 Oct 17.

8.

Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.

Balakumaran A, Mishra PJ, Pawelczyk E, Yoshizawa S, Sworder BJ, Cherman N, Kuznetsov SA, Bianco P, Giri N, Savage SA, Merlino G, Dumitriu B, Dunbar CE, Young NS, Alter BP, Robey PG.

Blood. 2015 Jan 29;125(5):793-802. doi: 10.1182/blood-2014-06-566810. Epub 2014 Dec 12.

9.

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.

PMID:
16825992
10.

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.

Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I.

Hum Mol Genet. 2007 Jul 1;16(13):1619-29. Epub 2007 May 16.

11.

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 29;119(13):3060-3. doi: 10.1182/blood-2011-10-383182. Epub 2012 Feb 8.

12.

Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients.

Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ.

Nature. 2010 Mar 11;464(7286):292-6. doi: 10.1038/nature08792. Epub 2010 Feb 17.

13.

Dyskeratosis congenita: its link to telomerase and aplastic anaemia.

Dokal I, Vulliamy T.

Blood Rev. 2003 Dec;17(4):217-25. Review.

PMID:
14556776
14.

Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

Batista LF, Pech MF, Zhong FL, Nguyen HN, Xie KT, Zaug AJ, Crary SM, Choi J, Sebastiano V, Cherry A, Giri N, Wernig M, Alter BP, Cech TR, Savage SA, Reijo Pera RA, Artandi SE.

Nature. 2011 May 22;474(7351):399-402. doi: 10.1038/nature10084.

15.

Posttranscriptional modulation of TERC by PAPD5 inhibition rescues hematopoietic development in dyskeratosis congenita.

Fok WC, Shukla S, Vessoni AT, Brenner KA, Parker R, Sturgeon CM, Batista LFZ.

Blood. 2019 Mar 21;133(12):1308-1312. doi: 10.1182/blood-2018-11-885368. Epub 2019 Feb 6.

16.

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I.

Blood Cells Mol Dis. 2005 May-Jun;34(3):257-63.

PMID:
15885610
17.

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 15;106(4):1246-52. Epub 2005 May 10.

18.

The relationship between DNA methylation and telomere length in dyskeratosis congenita.

Gadalla SM, Katki HA, Shebl FM, Giri N, Alter BP, Savage SA.

Aging Cell. 2012 Feb;11(1):24-8. doi: 10.1111/j.1474-9726.2011.00755.x. Epub 2011 Nov 15.

19.

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.

Marrone A, Dokal I.

Expert Rev Mol Med. 2004 Dec 20;6(26):1-23. Review.

PMID:
15613268
20.

TERC mutations in children with refractory cytopenia.

Ortmann CA, Niemeyer CM, Wawer A, Ebell W, Baumann I, Kratz CP.

Haematologica. 2006 May;91(5):707-8.

Supplemental Content

Support Center