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Items: 1 to 20 of 113

1.

Adult-onset pulmonary fibrosis caused by mutations in telomerase.

Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK.

Proc Natl Acad Sci U S A. 2007 May 1;104(18):7552-7. Epub 2007 Apr 25.

2.

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.

3.

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.

4.

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.

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.

A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.

Fernandez BA, Fox G, Bhatia R, Sala E, Noble B, Denic N, Fernandez D, Duguid N, Dohey A, Kamel F, Edwards L, Mahoney K, Stuckless S, Parfrey PS, Woods MO.

Respir Res. 2012 Aug 1;13:64. doi: 10.1186/1465-9921-13-64.

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.

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.

9.

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.

10.

Telomerase deficiency does not alter bleomycin-induced fibrosis in mice.

Degryse AL, Xu XC, Newman JL, Mitchell DB, Tanjore H, Polosukhin VV, Jones BR, McMahon FB, Gleaves LA, Phillips JA 3rd, Cogan JD, Blackwell TS, Lawson WE.

Exp Lung Res. 2012 Apr;38(3):124-34. doi: 10.3109/01902148.2012.658148.

11.

Short telomeres in pulmonary fibrosis: from genetics to clinical significance.

Trăilă D, Mlădinescu OF, Oancea C, Tudorache V.

Pneumologia. 2015 Jan-Mar;64(1):8, 11-3. Review.

PMID:
26016050
12.

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS.

N Engl J Med. 2005 Apr 7;352(14):1413-24.

13.

Idiopathic pulmonary fibrosis: update on genetic discoveries.

Garcia CK.

Proc Am Thorac Soc. 2011 May;8(2):158-62. doi: 10.1513/pats.201008-056MS.

14.

Telomerase mutations in smokers with severe emphysema.

Stanley SE, Chen JJ, Podlevsky JD, Alder JK, Hansel NN, Mathias RA, Qi X, Rafaels NM, Wise RA, Silverman EK, Barnes KC, Armanios M.

J Clin Invest. 2015 Feb;125(2):563-70. doi: 10.1172/JCI78554. Epub 2014 Dec 22.

15.

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.

16.

Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations.

Diaz de Leon A, Cronkhite JT, Yilmaz C, Brewington C, Wang R, Xing C, Hsia CC, Garcia CK.

Chest. 2011 Sep;140(3):753-63. doi: 10.1378/chest.10-2865. Epub 2011 Feb 24.

17.

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.

Du HY, Pumbo E, Manley P, Field JJ, Bayliss SJ, Wilson DB, Mason PJ, Bessler M.

Blood. 2008 Feb 1;111(3):1128-30. Epub 2007 Nov 27.

18.

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.

19.

hTERT mutations associated with idiopathic pulmonary fibrosis affect telomerase activity, telomere length, and cell growth by distinct mechanisms.

Tsang AR, Wyatt HD, Ting NS, Beattie TL.

Aging Cell. 2012 Jun;11(3):482-90. doi: 10.1111/j.1474-9726.2012.00810.x. Epub 2012 Mar 19.

20.

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

Kannengiesser C, Borie R, Ménard C, Réocreux M, Nitschké P, Gazal S, Mal H, Taillé C, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, Boileau C, Cottin V, Grandchamp B, Revy P, Crestani B.

Eur Respir J. 2015 Aug;46(2):474-85. doi: 10.1183/09031936.00040115. Epub 2015 May 28.

PMID:
26022962
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