196 related articles for article (PubMed ID: 21199492)
1. 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. PubMed ID: 21199492
[TBL] [Abstract][Full Text] [Related]
2. 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; 112(9):3594-600. PubMed ID: 18669893
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 22078571
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 21477109
[TBL] [Abstract][Full Text] [Related]
5. 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; ; ; Maillard I; Alter BP; Keegan CE; Nandakumar J; Savage SA
Genes Dev; 2014 Oct; 28(19):2090-102. PubMed ID: 25233904
[TBL] [Abstract][Full Text] [Related]
6. [Dyskeratosis congenita: short telomeres are not the rule].
Touzot F; Le Guen T; de Villartay JP; Revy P
Med Sci (Paris); 2012; 28(6-7):618-24. PubMed ID: 22805138
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 25940403
[TBL] [Abstract][Full Text] [Related]
8. 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; 110(36):E3408-16. PubMed ID: 23959892
[TBL] [Abstract][Full Text] [Related]
9. 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; 22(16):3239-49. PubMed ID: 23591994
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 18252230
[TBL] [Abstract][Full Text] [Related]
11. TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase.
Yang D; He Q; Kim H; Ma W; Songyang Z
J Biol Chem; 2011 Jul; 286(26):23022-30. PubMed ID: 21536674
[TBL] [Abstract][Full Text] [Related]
12. Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita.
Choo S; Lorbeer FK; Regalado SG; Short SB; Wu S; Rieser G; Bertuch AA; Hockemeyer D
Blood; 2022 Aug; 140(6):608-618. PubMed ID: 35421215
[TBL] [Abstract][Full Text] [Related]
13. High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K; Walne AJ; Ponsford MJ; Cleal K; Grimstead JW; Ellison A; Alnajar J; Dokal I; Vulliamy T; Baird DM
Hum Genet; 2021 Jun; 140(6):945-955. PubMed ID: 33709208
[TBL] [Abstract][Full Text] [Related]
14. RTEL1: functions of a disease-associated helicase.
Vannier JB; Sarek G; Boulton SJ
Trends Cell Biol; 2014 Jul; 24(7):416-25. PubMed ID: 24582487
[TBL] [Abstract][Full Text] [Related]
15. Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models.
Benyelles M; Episkopou H; O'Donohue MF; Kermasson L; Frange P; Poulain F; Burcu Belen F; Polat M; Bole-Feysot C; Langa-Vives F; Gleizes PE; de Villartay JP; Callebaut I; Decottignies A; Revy P
EMBO Mol Med; 2019 Jul; 11(7):e10201. PubMed ID: 31273937
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 21209122
[TBL] [Abstract][Full Text] [Related]
17. Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.
Çepni E; Satkın NB; Moheb LA; Rocha ME; Kayserili H
Am J Med Genet A; 2022 Apr; 188(4):1226-1232. PubMed ID: 34890115
[TBL] [Abstract][Full Text] [Related]
18. 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; 546(2):425-9. PubMed ID: 24914498
[TBL] [Abstract][Full Text] [Related]
19. Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.
Bakar Ö; Işik U; Canpolat C; Alanay Y
Pediatr Dermatol; 2015; 32(6):e263-6. PubMed ID: 26446280
[TBL] [Abstract][Full Text] [Related]
20. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Walne AJ; Vulliamy T; Kirwan M; Plagnol V; Dokal I
Am J Hum Genet; 2013 Mar; 92(3):448-53. PubMed ID: 23453664
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
