Accès gratuit
Numéro
Med Sci (Paris)
Volume 29, Numéro 12, Décembre 2013
Page(s) 1138 - 1144
Section M/S Revues
DOI https://doi.org/10.1051/medsci/20132912018
Publié en ligne 20 décembre 2013
  1. Gilson E, Geli V. How telomeres are replicated. Nat Rev Mol Cell Biol 2007 ; 8 : 825–838. [CrossRef] [PubMed] [Google Scholar]
  2. Von Zglinicki T. Oxidative stress shortens telomeres. Trends Biochem Sci 2002 ; 27 : 339–344. [CrossRef] [PubMed] [Google Scholar]
  3. Londoño-Vallejo JA. Un Nobel centenaire célèbre télomères et télomérase. Med Sci (Paris) 2009 ; 25 : 973–976. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
  4. De Lange T. How shelterin solves the telomere end-protection problem. Cold Spring Harb Symp Quant Biol 2009 ; 75 : 167–177. [CrossRef] [Google Scholar]
  5. Touzot F, Le Guen T, de Villartay JP, Revy P. Nouvelles formes de dyskératoses congénitales - Le dysfonctionnement des télomères n’est pas systématiquement associé à une réduction de leur taille. Med Sci (Paris) 2012 ; 28 : 618–624. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
  6. Ballew BJ, Yeager M, Jacobs K, et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum Genet 2013 ; 132 : 473–480. [CrossRef] [PubMed] [Google Scholar]
  7. Barber LJ, Youds JL, Ward JD, et al. RTEL1 maintains genomic stability by suppressing homologous recombination. Cell 2008 ; 135 : 261–271. [CrossRef] [PubMed] [Google Scholar]
  8. Den, Z, Glousker G, Molczan A, et al. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. Proc Natl Acad Sci USA 2013 (sous presse). [Google Scholar]
  9. Le Guen T, Jullien L, Touzot F, et al. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. Hum Mol Genet 2013 ; 22 : 3239–3249. [CrossRef] [PubMed] [Google Scholar]
  10. Sfeir A, Kosiyatrakul ST, Hockemeyer D, et al. Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication. Cell 2009 ; 138 : 90–103. [CrossRef] [PubMed] [Google Scholar]
  11. Uringa EJ, Lisaingo K, Pickett HA, et al. RTEL1 contributes to DNA replication and repair and telomere maintenance. Mol Biol Cell 2012 ; 23 : 2782–2792. [CrossRef] [PubMed] [Google Scholar]
  12. Vannier JB, Pavicic-Kaltenbrunner V, Petalcorin MI, et al. RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity. Cell 2012 ; 149 : 795–806. [CrossRef] [PubMed] [Google Scholar]
  13. Walne AJ, Vulliamy T, Kirwan M, et al. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet 2013 ; 92 : 448–453. [CrossRef] [PubMed] [Google Scholar]
  14. Youds JL, Mets DG, McIlwraith MJ, et al. RTEL-1 enforces meiotic crossover interference and homeostasis. Science 2010 ; 327 : 1254–1258. [CrossRef] [PubMed] [Google Scholar]
  15. Ballew BJ, Joseph V, De Z, et al. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency, features of Hoyeraal Hreidarsson syndrome. PLoS Genet 2013 ; 9 : e1003695. [CrossRef] [PubMed] [Google Scholar]
  16. Faure G, Revy P, Schertzer M, et al. The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains Harmonin-N-like domains. Proteins 2013 ; doi:10.1002/prot.24438. [Google Scholar]
  17. Vannier JB, Sandhu S, Petalcorin MI, et al. RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication. Science 2013 ; 342 : 239–242. [CrossRef] [PubMed] [Google Scholar]
  18. Zhu L, Hathcock KS, Hande P, et al. Telomere length regulation in mice is linked to a novel chromosome locus. Proc Natl Acad Sci USA 1998 ; 95 : 8648–8653. [CrossRef] [Google Scholar]
  19. Ding H, Schertzer M, Wu X, et al. Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein. Cell 2004 ; 117 : 873–886. [CrossRef] [PubMed] [Google Scholar]
  20. Bai C, Connolly B, Metzker ML, et al. Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster. Proc Natl Acad Sci USA 2000 ; 97 : 1230–1235. [CrossRef] [Google Scholar]
  21. Bohr VA. Rising from the RecQ-age: the role of human RecQ helicases in genome maintenance. Trends Biochem Sci 2008 ; 33 : 609–620. [CrossRef] [PubMed] [Google Scholar]
  22. Gari K, Leon Ortiz AM, Borel V, et al. MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism. Science 2012 ; 337 : 243–245. [CrossRef] [PubMed] [Google Scholar]
  23. Stehling O, Vashisht AA, Mascarenhas J, et al. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. Science 2012 ; 337 : 195–199. [CrossRef] [PubMed] [Google Scholar]
  24. Uringa EJ, Youds JL, Lisaingo K, et al. RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination. Nucleic Acids Res 2011 ; 39 : 1647–1655. [CrossRef] [PubMed] [Google Scholar]
  25. Griffith JD, Comeau L, Rosenfield S, et al. Mammalian telomeres end in a large duplex loop. Cell 1999 ; 97 : 503–514. [CrossRef] [PubMed] [Google Scholar]
  26. Fekairi S, Scaglione S, Chahwan C, et al. Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases. Cell 2009 ; 138 : 78–89. [CrossRef] [PubMed] [Google Scholar]
  27. Wu X, Sandhu S, Nabi Z, Ding H. Generation of a mouse model for studying the role of upregulated RTEL1 activity in tumorigenesis. Transgenic Res 2012 ; 21 : 1109–1115. [CrossRef] [PubMed] [Google Scholar]
  28. Egan KM, Thompson RC, Nabors LB, et al. Cancer susceptibility variants and the risk of adult glioma in a US case-control study. J Neurooncol 2011 ; 104 : 535–542. [CrossRef] [PubMed] [Google Scholar]
  29. Liu Y, S Shete, CJ Etzel, et al. Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival. J Clin Oncol 2010 ; 28 : 2467–2474. [CrossRef] [PubMed] [Google Scholar]
  30. Wrensch M, Jenkins RB, Chang JS, et al. Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. Nat Genet 2009 ; 41 : 905–908. [CrossRef] [PubMed] [Google Scholar]
  31. Maga G, Hubscher U. Proliferating cell nuclear antigen (PCNA): a dancer with many partners. J Cell Sci 2003 ; 116 : 3051–3060. [CrossRef] [PubMed] [Google Scholar]
  32. Verpy E, M Leibovici, I Zwaenepoel, et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 2000 ; 26 : 51–55. [CrossRef] [PubMed] [Google Scholar]

Les statistiques affichées correspondent au cumul d'une part des vues des résumés de l'article et d'autre part des vues et téléchargements de l'article plein-texte (PDF, Full-HTML, ePub... selon les formats disponibles) sur la platefome Vision4Press.

Les statistiques sont disponibles avec un délai de 48 à 96 heures et sont mises à jour quotidiennement en semaine.

Le chargement des statistiques peut être long.