Londono-Vallejo A - Search Results

1

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.

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. Le Guen T, et al. 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

3

Pulmonary alveolar proteinosis revealing a telomerase disease.

Marchand-Adam S, Diot B, Magro P, De Muret A, Guignabert C, Kannengiesser C, Londono-Vallejo A, Draskovic I, Toutain A, Diot P. Marchand-Adam S, et al. Am J Respir Crit Care Med. 2013 Aug 1;188(3):402-4. doi: 10.1164/rccm.201301-0010LE. Am J Respir Crit Care Med. 2013. PMID: 23905534 No abstract available.

4

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. Faure G, et al. Proteins. 2014 Jun;82(6):897-903. doi: 10.1002/prot.24438. Epub 2013 Nov 22. Proteins. 2014. PMID: 24130156

5

[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. Le Guen T, et al. Med Sci (Paris). 2013 Dec;29(12):1138-44. doi: 10.1051/medsci/20132912018. Epub 2013 Dec 20. Med Sci (Paris). 2013. PMID: 24356145 Free article. Review. French.

6

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. Schertzer M, et al. Nucleic Acids Res. 2015 Feb 18;43(3):1834-47. doi: 10.1093/nar/gku1402. Epub 2015 Jan 27. Nucleic Acids Res. 2015. PMID: 25628358 Free PMC article.

7

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. Jullien L, et al. Hum Mutat. 2016 May;37(5):469-72. doi: 10.1002/humu.22966. Epub 2016 Feb 23. Hum Mutat. 2016. PMID: 26847928

8

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.

9

Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension.

Porreca RM, Glousker G, Awad A, Matilla Fernandez MI, Gibaud A, Naucke C, Cohen SB, Bryan TM, Tzfati Y, Draskovic I, Londoño-Vallejo A. Porreca RM, et al. Nucleic Acids Res. 2018 May 18;46(9):4533-4545. doi: 10.1093/nar/gky173. Nucleic Acids Res. 2018. PMID: 29522136 Free PMC article.

10

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

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