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Results: 13

1.

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

Deng Z, Glousker G, Molczan A, Fox AJ, Lamm N, Dheekollu J, Weizman OE, Schertzer M, Wang Z, Vladimirova O, Schug J, Aker M, Londoño-Vallejo A, Kaestner KH, Lieberman PM, Tzfati Y.

Proc Natl Acad Sci U S A. 2013 Sep 3;110(36):E3408-16. doi: 10.1073/pnas.1300600110. Epub 2013 Aug 19.

PMID:
23959892
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Finding the end: recruitment of telomerase to telomeres.

Nandakumar J, Cech TR.

Nat Rev Mol Cell Biol. 2013 Feb;14(2):69-82. doi: 10.1038/nrm3505. Epub 2013 Jan 9. Review.

PMID:
23299958
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The gastrointestinal manifestations of telomere-mediated disease.

Jonassaint NL, Guo N, Califano JA, Montgomery EA, Armanios M.

Aging Cell. 2013 Apr;12(2):319-23. doi: 10.1111/acel.12041. Epub 2013 Jan 4.

PMID:
23279657
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Keratinization and its disorders.

Shetty S; Gokul S.

Oman Med J. 2012 Sep;27(5):348-57. doi: 10.5001/omj.2012.90.

PMID:
23074543
[PubMed]
Free PMC Article
5.

Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita.

Beier F, Foronda M, Martinez P, Blasco MA.

Blood. 2012 Oct 11;120(15):2990-3000. doi: 10.1182/blood-2012-03-418038. Epub 2012 Aug 29.

PMID:
22932806
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mitochondrial localization of telomeric protein TIN2 links telomere regulation to metabolic control.

Chen LY, Zhang Y, Zhang Q, Li H, Luo Z, Fang H, Kim SH, Qin L, Yotnda P, Xu J, Tu BP, Bai Y, Songyang Z.

Mol Cell. 2012 Sep 28;47(6):839-50. doi: 10.1016/j.molcel.2012.07.002. Epub 2012 Aug 9.

PMID:
22885005
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE.

Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1.

PMID:
22387016
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The genetics of dyskeratosis congenita.

Mason PJ, Bessler M.

Cancer Genet. 2011 Dec;204(12):635-45. doi: 10.1016/j.cancergen.2011.11.002. Review.

PMID:
22285015
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A role for sister telomere cohesion in telomere elongation by telomerase.

Houghtaling BR, Canudas S, Smith S.

Cell Cycle. 2012 Jan 1;11(1):19-25. doi: 10.4161/cc.11.1.18633. Epub 2012 Jan 1.

PMID:
22157096
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
21981348
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

Vulliamy TJ, Kirwan MJ, Beswick R, Hossain U, Baqai C, Ratcliffe A, Marsh J, Walne A, Dokal I.

PLoS One. 2011;6(9):e24383. doi: 10.1371/journal.pone.0024383. Epub 2011 Sep 13.

PMID:
21931702
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A role for heterochromatin protein 1γ at human telomeres.

Canudas S, Houghtaling BR, Bhanot M, Sasa G, Savage SA, Bertuch AA, Smith S.

Genes Dev. 2011 Sep 1;25(17):1807-19. doi: 10.1101/gad.17325211. Epub 2011 Aug 24.

PMID:
21865325
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Dyskeratosis congenita as a disorder of telomere maintenance.

Nelson ND, Bertuch AA.

Mutat Res. 2012 Feb 1;730(1-2):43-51. doi: 10.1016/j.mrfmmm.2011.06.008. Epub 2011 Jul 2. Review.

PMID:
21745483
[PubMed - indexed for MEDLINE]
Free PMC Article

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