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Items: 1 to 20 of 255

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.

2.

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P.

Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15.

3.

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, Schrader KA, Small TN, O'Reilly R, Manschreck C, Harlan Fleischut MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JH.

PLoS Genet. 2013 Aug;9(8):e1003695. doi: 10.1371/journal.pgen.1003695. Epub 2013 Aug 29.

4.

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I.

Am J Hum Genet. 2013 Mar 7;92(3):448-53. doi: 10.1016/j.ajhg.2013.02.001. Epub 2013 Feb 28.

5.

RTEL1: functions of a disease-associated helicase.

Vannier JB, Sarek G, Boulton SJ.

Trends Cell Biol. 2014 Jul;24(7):416-25. doi: 10.1016/j.tcb.2014.01.004. Epub 2014 Feb 25. Review.

PMID:
24582487
6.

[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].

Le Guen T, Jullien L, Schertzer M, Lefebvre A, Kermasson L, de Villartay JP, Londoño-Vallejo A, Revy P.

Med Sci (Paris). 2013 Dec;29(12):1138-44. doi: 10.1051/medsci/20132912018. Epub 2013 Dec 20. Review. French.

7.

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA.

Br J Haematol. 2015 Aug;170(4):457-71. doi: 10.1111/bjh.13442. Epub 2015 May 4. Review.

8.

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.

9.

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

Touzot F, Gaillard L, Vasquez N, Le Guen T, Bertrand Y, Bourhis J, Leblanc T, Fischer A, Soulier J, de Villartay JP, Revy P.

J Allergy Clin Immunol. 2012 Feb;129(2):473-82, 482.e1-3. doi: 10.1016/j.jaci.2011.09.043. Epub 2011 Nov 10.

PMID:
22078571
10.

Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome.

Lee JW.

Clin Genet. 2013 Sep;84(3):210. doi: 10.1111/cge.12175. Epub 2013 May 27. No abstract available.

PMID:
23621889
11.

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.

12.

Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.

Lamm N, Ordan E, Shponkin R, Richler C, Aker M, Tzfati Y.

PLoS One. 2009 May 22;4(5):e5666. doi: 10.1371/journal.pone.0005666.

13.

The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.

Faure G, Revy P, Schertzer M, Londono-Vallejo A, Callebaut I.

Proteins. 2014 Jun;82(6):897-903. doi: 10.1002/prot.24438. Epub 2013 Nov 22.

PMID:
24130156
14.

Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ.

Gene. 2014 Aug 10;546(2):425-9. doi: 10.1016/j.gene.2014.06.011. Epub 2014 Jun 7.

PMID:
24914498
15.

A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.

Gramatges MM, Qi X, Sasa GS, Chen JJ, Bertuch AA.

Blood. 2013 May 2;121(18):3586-93. doi: 10.1182/blood-2012-08-447755. Epub 2013 Mar 28.

16.

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.

Gramatges MM, Bertuch AA.

Transl Res. 2013 Dec;162(6):353-63. doi: 10.1016/j.trsl.2013.05.003. Epub 2013 Jun 1. Review.

17.

A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex.

Vogiatzi P, Perdigones N, Mason PJ, Wilson DB, Bessler M.

Pediatr Blood Cancer. 2013 Jun;60(6):E4-6. doi: 10.1002/pbc.24389. Epub 2013 Jan 17.

18.

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.

Schertzer M, Jouravleva K, Perderiset M, Dingli F, Loew D, Le Guen T, Bardoni B, de Villartay JP, Revy P, Londoño-Vallejo A.

Nucleic Acids Res. 2015 Feb 18;43(3):1834-47. doi: 10.1093/nar/gku1402. Epub 2015 Jan 27.

19.

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.

20.

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome.

Touzot F, Callebaut I, Soulier J, Gaillard L, Azerrad C, Durandy A, Fischer A, de Villartay JP, Revy P.

Proc Natl Acad Sci U S A. 2010 Jun 1;107(22):10097-102. doi: 10.1073/pnas.0914918107. Epub 2010 May 17.

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