217 related articles for article (PubMed ID: 32398829)
1. SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations.
Takedachi A; Despras E; Scaglione S; Guérois R; Guervilly JH; Blin M; Audebert S; Camoin L; Hasanova Z; Schertzer M; Guille A; Churikov D; Callebaut I; Naim V; Chaffanet M; Borg JP; Bertucci F; Revy P; Birnbaum D; Londoño-Vallejo A; Kannouche PL; Gaillard PHL
Nat Struct Mol Biol; 2020 May; 27(5):438-449. PubMed ID: 32398829
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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. PubMed ID: 23621889
[No Abstract] [Full Text] [Related]
6. 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. PubMed ID: 24009516
[TBL] [Abstract][Full Text] [Related]
7. [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. PubMed ID: 24356145
[TBL] [Abstract][Full Text] [Related]
8. Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.
Moriya K; Niizuma H; Rikiishi T; Yamaguchi H; Sasahara Y; Kure S
Pediatr Blood Cancer; 2016 Sep; 63(9):1683-4. PubMed ID: 27128385
[No Abstract] [Full Text] [Related]
9. Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.
Jullien L; Kannengiesser C; Kermasson L; Cormier-Daire V; Leblanc T; Soulier J; Londono-Vallejo A; de Villartay JP; Callebaut I; Revy P
Hum Mutat; 2016 May; 37(5):469-72. PubMed ID: 26847928
[TBL] [Abstract][Full Text] [Related]
10. Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.
Awad A; Glousker G; Lamm N; Tawil S; Hourvitz N; Smoom R; Revy P; Tzfati Y
Nucleic Acids Res; 2020 Jul; 48(13):7239-7251. PubMed ID: 32542379
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 24130156
[TBL] [Abstract][Full Text] [Related]
12. Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
Fedick AM; Shi L; Jalas C; Treff NR; Ekstein J; Kornreich R; Edelmann L; Mehta L; Savage SA
Clin Genet; 2015 Aug; 88(2):177-81. PubMed ID: 25047097
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Involvement of SLX4 in interstrand cross-link repair is regulated by the Fanconi anemia pathway.
Yamamoto KN; Kobayashi S; Tsuda M; Kurumizaka H; Takata M; Kono K; Jiricny J; Takeda S; Hirota K
Proc Natl Acad Sci U S A; 2011 Apr; 108(16):6492-6. PubMed ID: 21464321
[TBL] [Abstract][Full Text] [Related]
15. Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.
He M; Lian G; Hu H; He H; Wang M
Turk J Pediatr; 2023; 65(5):845-852. PubMed ID: 37853975
[TBL] [Abstract][Full Text] [Related]
16. Resonance assignment and secondary structure of the tandem harmonin homology domains of human RTEL1.
Kumar N; Ghosh M; Manikandan P; Basak S; Deepa A; Singh M
Biomol NMR Assign; 2022 Apr; 16(1):159-164. PubMed ID: 35320499
[TBL] [Abstract][Full Text] [Related]
17. TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation.
Bhattacharyya R; Tan AM; Chan MY; Jamuar SS; Foo R; Iyer P
Bone Marrow Transplant; 2016 May; 51(5):753-4. PubMed ID: 26808564
[No Abstract] [Full Text] [Related]
18. 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. PubMed ID: 23329068
[TBL] [Abstract][Full Text] [Related]
19. Coordinated roles of SLX4 and MutSβ in DNA repair and the maintenance of genome stability.
Young SJ; West SC
Crit Rev Biochem Mol Biol; 2021 Apr; 56(2):157-177. PubMed ID: 33596761
[TBL] [Abstract][Full Text] [Related]
20. Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Burris AM; Ballew BJ; Kentosh JB; Turner CE; Norton SA; ; ; Giri N; Alter BP; Nellan A; Gamper C; Hartman KR; Savage SA
Pediatr Neurol; 2016 Mar; 56():62-68.e1. PubMed ID: 26810774
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
