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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. Le Guen T, et al. Among authors: schertzer m. Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591994
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. Takedachi A, et al. Among authors: schertzer m. Nat Struct Mol Biol. 2020 May;27(5):438-449. doi: 10.1038/s41594-020-0419-3. Epub 2020 May 11. Nat Struct Mol Biol. 2020. PMID: 32398829
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. Deng Z, et al. Among authors: schertzer m. Proc Natl Acad Sci U S A. 2013 Sep 3;110(36):E3408-16. doi: 10.1073/pnas.1300600110. Epub 2013 Aug 19. Proc Natl Acad Sci U S A. 2013. PMID: 23959892 Free PMC article.
Genome-wide Control of Heterochromatin Replication by the Telomere Capping Protein TRF2.
Mendez-Bermudez A, Lototska L, Bauwens S, Giraud-Panis MJ, Croce O, Jamet K, Irizar A, Mowinckel M, Koundrioukoff S, Nottet N, Almouzni G, Teulade-Fichou MP, Schertzer M, Perderiset M, Londoño-Vallejo A, Debatisse M, Gilson E, Ye J. Mendez-Bermudez A, et al. Among authors: schertzer m. Mol Cell. 2018 May 3;70(3):449-461.e5. doi: 10.1016/j.molcel.2018.03.036. Mol Cell. 2018. PMID: 29727617 Free article.
Author Correction: 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. Takedachi A, et al. Among authors: schertzer m. Nat Struct Mol Biol. 2020 Jun;27(6):603. doi: 10.1038/s41594-020-0448-y. Nat Struct Mol Biol. 2020. PMID: 32409717
Publisher Correction: 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. Takedachi A, et al. Among authors: schertzer m. Nat Struct Mol Biol. 2020 Jun;27(6):604. doi: 10.1038/s41594-020-0447-z. Nat Struct Mol Biol. 2020. PMID: 32409716
61 results