Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 135

1.

Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.

Savage SA, Giri N, Jessop L, Pike K, Plona T, Burdett L, Alter BP.

J Med Genet. 2011 Apr;48(4):285-8. doi: 10.1136/jmg.2010.082727. Epub 2011 Jan 5.

PMID:
21209122
2.

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP.

Am J Hum Genet. 2008 Feb;82(2):501-9. doi: 10.1016/j.ajhg.2007.10.004. Epub 2008 Jan 31.

3.

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I.

Blood. 2008 Nov 1;112(9):3594-600. doi: 10.1182/blood-2008-05-153445. Epub 2008 Jul 30.

4.

High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.

Carrillo J, Martínez P, Solera J, Moratilla C, González A, Manguán-García C, Aymerich M, Canal L, Del Campo M, Dapena JL, Escoda L, García-Sagredo JM, Martín-Sala S, Rives S, Sevilla J, Sastre L, Perona R.

Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):140-6. doi: 10.1016/j.bcmd.2012.05.008. Epub 2012 Jun 2.

PMID:
22664374
5.

[Dyskeratosis congenital: clinical features and genotype analysis in two Chinese patients].

Liu R, Shi XD, Wang TY, Liu ZQ, Hu T, Fan W, Cao J, Hou R, Liang C, Huang SA.

Zhonghua Xue Ye Xue Za Zhi. 2011 Oct;32(10):684-7. Chinese.

PMID:
22339828
6.

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.

7.

Advances in the understanding of dyskeratosis congenita.

Walne AJ, Dokal I.

Br J Haematol. 2009 Apr;145(2):164-72. doi: 10.1111/j.1365-2141.2009.07598.x. Epub 2009 Feb 4. Review.

8.

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

Vulliamy T, Beswick R, Kirwan MJ, Hossain U, Walne AJ, Dokal I.

Clin Genet. 2012 Jan;81(1):76-81. doi: 10.1111/j.1399-0004.2010.01605.x. Epub 2011 Jan 4.

9.

[Genotype analysis and telomere length measure in patients with dyskeratosis congenita].

Zhang JY, An WB, Zhang L, Chang LX, Qi BQ, Liu TF, Liu F, Yang WY, Guo Y, Zhu XF.

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2015 Feb;23(1):212-6. doi: 10.7534/j.issn.1009-2137.2015.01.040. Chinese.

PMID:
25687075
10.

[Clinical and genetic features of dyskeratosis congenital with bone marrow failure in eight patients].

Wan Y, An WB, Zhang JY, Zhang JL, Zhang RR, Zhu S, Chang LX, Zhang YC, Liu F, Yang WY, Chen XJ, Zou Y, Chen YM, Zhu XF.

Zhonghua Xue Ye Xue Za Zhi. 2016 Mar;37(3):216-20. doi: 10.3760/cma.j.issn.0253-2727.2016.03.008. Chinese.

PMID:
27033759
11.

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.

Aoude LG, Pritchard AL, Robles-Espinoza CD, Wadt K, Harland M, Choi J, Gartside M, Quesada V, Johansson P, Palmer JM, Ramsay AJ, Zhang X, Jones K, Symmons J, Holland EA, Schmid H, Bonazzi V, Woods S, Dutton-Regester K, Stark MS, Snowden H, van Doorn R, Montgomery GW, Martin NG, Keane TM, López-Otín C, Gerdes AM, Olsson H, Ingvar C, Borg A, Gruis NA, Trent JM, Jönsson G, Bishop DT, Mann GJ, Newton-Bishop JA, Brown KM, Adams DJ, Hayward NK.

J Natl Cancer Inst. 2014 Dec 13;107(2). pii: dju408. doi: 10.1093/jnci/dju408. Print 2015 Feb.

12.

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA.

Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18.

13.

A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex.

Sarper N, Zengin E, Kılıç SÇ.

Pediatr Blood Cancer. 2010 Dec 1;55(6):1185-6. doi: 10.1002/pbc.22624.

PMID:
20979174
14.

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.

15.

Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.

Pereboeva L, Hubbard M, Goldman FD, Westin ER.

PLoS One. 2016 Feb 9;11(2):e0148793. doi: 10.1371/journal.pone.0148793. eCollection 2016.

16.

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA.

Hum Genet. 2013 Apr;132(4):473-80. doi: 10.1007/s00439-013-1265-8. Epub 2013 Jan 18.

17.

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Ballew BJ, Savage SA.

Expert Rev Hematol. 2013 Jun;6(3):327-37. doi: 10.1586/ehm.13.23. Review.

PMID:
23782086
18.

Dyskeratosis congenita, stem cells and telomeres.

Kirwan M, Dokal I.

Biochim Biophys Acta. 2009 Apr;1792(4):371-9. doi: 10.1016/j.bbadis.2009.01.010. Epub 2009 Feb 7. Review.

19.

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I.

Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8073-8. doi: 10.1073/pnas.0800042105. Epub 2008 Jun 3.

20.

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.

Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA.

Clin Genet. 2012 May;81(5):470-8. doi: 10.1111/j.1399-0004.2011.01658.x. Epub 2011 Apr 7.

Supplemental Content

Support Center