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Items: 1 to 20 of 116

1.

Telomerase and idiopathic pulmonary fibrosis.

Armanios M.

Mutat Res. 2012 Feb 1;730(1-2):52-8. doi: 10.1016/j.mrfmmm.2011.10.013. Epub 2011 Nov 4. Review.

2.

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

Parry EM, Alder JK, Qi X, Chen JJ, Armanios M.

Blood. 2011 May 26;117(21):5607-11. doi: 10.1182/blood-2010-11-322149. Epub 2011 Mar 24. Erratum in: Blood. 2016 Apr 7;127(14):1837.

3.

Syndromes of telomere shortening.

Armanios M.

Annu Rev Genomics Hum Genet. 2009;10:45-61. doi: 10.1146/annurev-genom-082908-150046. Review.

4.

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.

5.

Telomerase mutations in families with idiopathic pulmonary fibrosis.

Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA 3rd, Lansdorp PM, Greider CW, Loyd JE.

N Engl J Med. 2007 Mar 29;356(13):1317-26.

6.

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Diaz de Leon A, Cronkhite JT, Katzenstein AL, Godwin JD, Raghu G, Glazer CS, Rosenblatt RL, Girod CE, Garrity ER, Xing C, Garcia CK.

PLoS One. 2010 May 19;5(5):e10680. doi: 10.1371/journal.pone.0010680.

7.

Short telomeres are a risk factor for idiopathic pulmonary fibrosis.

Alder JK, Chen JJ, Lancaster L, Danoff S, Su SC, Cogan JD, Vulto I, Xie M, Qi X, Tuder RM, Phillips JA 3rd, Lansdorp PM, Loyd JE, Armanios MY.

Proc Natl Acad Sci U S A. 2008 Sep 2;105(35):13051-6. doi: 10.1073/pnas.0804280105. Epub 2008 Aug 27.

8.

A spectrum of severe familial liver disorders associate with telomerase mutations.

Calado RT, Regal JA, Kleiner DE, Schrump DS, Peterson NR, Pons V, Chanock SJ, Lansdorp PM, Young NS.

PLoS One. 2009 Nov 20;4(11):e7926. doi: 10.1371/journal.pone.0007926.

9.

Human diseases of telomerase dysfunction: insights into tissue aging.

Garcia CK, Wright WE, Shay JW.

Nucleic Acids Res. 2007;35(22):7406-16. Epub 2007 Oct 2. Review.

10.

The molecular genetics of the telomere biology disorders.

Bertuch AA.

RNA Biol. 2016 Aug 2;13(8):696-706. doi: 10.1080/15476286.2015.1094596. Epub 2015 Sep 23. Review.

11.

[Idiopathic pulmonary fibrosis--telomerase mutation in the familial form].

Herrmann M.

Pneumologie. 2008 Mar;62(3):121. doi: 10.1055/s-2008-1075045. German. No abstract available.

PMID:
18370353
12.

Telomerase gene mutations and telomere length shortening in patients with idiopathic pulmonary fibrosis in a Chinese population.

Dai J, Cai H, Zhuang Y, Wu Y, Min H, Li J, Shi Y, Gao Q, Yi L.

Respirology. 2015 Jan;20(1):122-8. doi: 10.1111/resp.12422. Epub 2014 Oct 23.

13.

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
14.

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
15.

Understanding telomere diseases through analysis of patient-derived iPS cells.

Batista LF, Artandi SE.

Curr Opin Genet Dev. 2013 Oct;23(5):526-33. doi: 10.1016/j.gde.2013.07.006. Epub 2013 Aug 28. Review.

16.

Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation.

Cerone MA, Ward RJ, LondoƱo-Vallejo JA, Autexier C.

Cell Cycle. 2005 Apr;4(4):585-9. Epub 2005 Apr 3.

PMID:
15753647
17.

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

Alder JK, Cogan JD, Brown AF, Anderson CJ, Lawson WE, Lansdorp PM, Phillips JA 3rd, Loyd JE, Chen JJ, Armanios M.

PLoS Genet. 2011 Mar;7(3):e1001352. doi: 10.1371/journal.pgen.1001352. Epub 2011 Mar 31.

18.

Recent progress in dyskeratosis congenita.

Nishio N, Kojima S.

Int J Hematol. 2010 Oct;92(3):419-24. doi: 10.1007/s12185-010-0695-5. Epub 2010 Oct 1. Review.

PMID:
20882440
19.

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.

Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I.

Nature. 2001 Sep 27;413(6854):432-5.

PMID:
11574891
20.

Telomere shortening in familial and sporadic pulmonary fibrosis.

Cronkhite JT, Xing C, Raghu G, Chin KM, Torres F, Rosenblatt RL, Garcia CK.

Am J Respir Crit Care Med. 2008 Oct 1;178(7):729-37. doi: 10.1164/rccm.200804-550OC. Epub 2008 Jul 17.

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