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Items: 1 to 20 of 179

1.

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome.

Du HY, Idol R, Robledo S, Ivanovich J, An P, Londono-Vallejo A, Wilson DB, Mason PJ, Bessler M.

Aging Cell. 2007 Oct;6(5):689-97.

2.

The effect of TERC haploinsufficiency on the inheritance of telomere length.

Goldman F, Bouarich R, Kulkarni S, Freeman S, Du HY, Harrington L, Mason PJ, Londoño-Vallejo A, Bessler M.

Proc Natl Acad Sci U S A. 2005 Nov 22;102(47):17119-24. Epub 2005 Nov 11.

3.

Heterozygous telomerase deficiency in mouse and man: when less is definitely not more.

Mason PJ, Bessler M.

Cell Cycle. 2004 Sep;3(9):1127-9. Epub 2004 Sep 23. Review.

PMID:
15326392
4.

Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome.

Zhang A, Zheng C, Hou M, Lindvall C, Li KJ, Erlandsson F, Björkholm M, Gruber A, Blennow E, Xu D.

Am J Hum Genet. 2003 Apr;72(4):940-8. Epub 2003 Mar 10.

5.

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. Epub 2007 Mar 23.

6.
7.

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.

8.

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. Epub 2005 Apr 3.

PMID:
15753647
9.

Telomeres and marrow failure.

Calado RT.

Hematology Am Soc Hematol Educ Program. 2009:338-43. doi: 10.1182/asheducation-2009.1.338. Review.

PMID:
20008219
10.

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
11.

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.

Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW.

Proc Natl Acad Sci U S A. 2005 Nov 1;102(44):15960-4. Epub 2005 Oct 24.

12.

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.

13.

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I.

Blood. 2006 Apr 1;107(7):2680-5. Epub 2005 Dec 6.

14.

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
15.

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I.

Nat Genet. 2004 May;36(5):447-9. Epub 2004 Apr 18.

PMID:
15098033
16.

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.

17.

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.

18.

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.

19.

Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance.

Mason PJ, Wilson DB, Bessler M.

Curr Mol Med. 2005 Mar;5(2):159-70. Review.

PMID:
15974869
20.

Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.

Kirwan M, Beswick R, Vulliamy T, Nathwani AC, Walne AJ, Casimir C, Dokal I.

Br J Haematol. 2009 Mar;144(5):771-81. doi: 10.1111/j.1365-2141.2008.07516.x. Epub 2008 Nov 20.

PMID:
19036115
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