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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. 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.
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.
Touzot F, Kermasson L, Jullien L, Moshous D, Ménard C, Ikincioğullari A, Doğu F, Sari S, Giacobbi-Milet V, Etzioni A, Soulier J, Londono-Vallejo A, Fischer A, Callebaut I, de Villartay JP, Leblanc T, Kannengiesser C, Revy P. Touzot F, et al. Blood Adv. 2016 Nov 22;1(1):36-46. doi: 10.1182/bloodadvances.2016001313. eCollection 2016 Nov 29. Blood Adv. 2016. PMID: 29296694 Free PMC article.
Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes.
Borie R, Bouvry D, Cottin V, Gauvain C, Cazes A, Debray MP, Cadranel J, Dieude P, Degot T, Dominique S, Gamez AS, Jaillet M, Juge PA, Londono-Vallejo A, Mailleux A, Mal H, Boileau C, Menard C, Nunes H, Prevot G, Quetant S, Revy P, Traclet J, Wemeau-Stervinou L, Wislez M, Kannengiesser C, Crestani B. Borie R, et al. Eur Respir J. 2019 Feb 7;53(2):1800508. doi: 10.1183/13993003.00508-2018. Print 2019 Feb. Eur Respir J. 2019. PMID: 30523160 Free article.
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. 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
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. Nat Struct Mol Biol. 2020 Jun;27(6):604. doi: 10.1038/s41594-020-0447-z. Nat Struct Mol Biol. 2020. PMID: 32409716
81 results