EDP Sciences logo
Authentification abonné
Rechercher
Menu
Accueil Tous les numéros Volume 34 / Numéro 2 (Février 2018) Med Sci (Paris), 34 2 (2018) 155-160 Références
Accès gratuit
Numéro
Med Sci (Paris)
Volume 34, Numéro 2, Février 2018
Page(s) 155 - 160
Section M/S Revues
DOI https://doi.org/10.1051/medsci/20183402013
Publié en ligne 16 février 2018
  1. Carvajal RD, Schwartz GK, Tezel T, et al. Metastatic disease from uveal melanoma: treatment options and future prospects. Br J Ophthalmol 2017; 101 : 38-44. [CrossRef] [PubMed] [Google Scholar]
  2. Singh AD, Turell ME, Topham AK. Uveal melanoma: trends in incidence, treatment, and survival. Ophthalmology 2011; 118 : 1881-5. [Google Scholar]
  3. Park SJ, Oh CM, Kim BW, et al. Nationwide incidence of ocular melanoma in South Korea by using the National Cancer Registry Database (1999-2011). Invest Ophthalmol Vis Sci 2015; 56 : 4719-24. [CrossRef] [PubMed] [Google Scholar]
  4. Andreoli MT, Mieler WF, Leiderman YI. Epidemiological trends in uveal melanoma. Br J Ophthalmol 2015; 99 : 1550-3. [Google Scholar]
  5. Furney SJ, Pedersen M, Gentien D, et al. SF3B1 mutations are associated with alternative splicing in uveal melanoma. Cancer Discov 2013; 3 : 1122-9. [Google Scholar]
  6. Royer-Bertrand B, Torsello M, Rimoldi D, et al. Comprehensive genetic landscape of uveal melanoma by whole-genome sequencing. Am J Hum Genet 2016; 99 : 1190-8. [Google Scholar]
  7. Robertson AG, Shih J, Yau C, et al. Integrative analysis identifies four molecular and clinical subsets in uveal melanoma. Cancer Cell 2017; 32 : 204-20 e15. [Google Scholar]
  8. Mobuchon L, Battistella A, Bardel C, et al. A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus. NPJ Genom Med 2017; 2. [Google Scholar]
  9. Ferguson R, Vogelsang M, Ucisik-Akkaya E, et al. Genetic markers of pigmentation are novel risk loci for uveal melanoma. Sci Rep 2016; 6 : 31191. [Google Scholar]
  10. Cassoux N, Rodrigues MJ, Plancher C, et al. Genome-wide profiling is a clinically relevant and affordable prognostic test in posterior uveal melanoma. Br J Ophthalmol 2014; 98 : 769-74. [Google Scholar]
  11. Alexandrov LB, Jones PH, Wedge DC, et al. Clock-like mutational processes in human somatic cells. Nat Genet 2015; 47 : 1402-7. [Google Scholar]
  12. Tomasetti C, Vogelstein B. Cancer etiology. Variation in cancer risk among tissues can be explained by the number of stem cell divisions. Science 2015; 347 : 78-81. [Google Scholar]
  13. Helleday T, Eshtad S, Nik-Zainal S. Mechanisms underlying mutational signatures in human cancers. Nat Rev Genet 2014; 15 : 585-98. [Google Scholar]
  14. Kottschade LA, McWilliams RR, Markovic SN, et al. The use of pembrolizumab for the treatment of metastatic uveal melanoma. Melanoma Res 2016; 26 : 300-3. [Google Scholar]
  15. Van Raamsdonk CD, Bezrookove V, Green G, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009; 457 : 599-602. [Google Scholar]
  16. Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010; 363 : 2191-9. [Google Scholar]
  17. Moore AR, Ceraudo E, Sher JJ, et al. Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma. Nat Genet 2016; 48 : 675-80. [Google Scholar]
  18. Johansson P, Aoude LG, Wadt K, et al. Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4. Oncotarget 2016; 7 : 4624-31. [Google Scholar]
  19. Harbour JW, Onken MD, Roberson ED, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010; 330 : 1410-3. [Google Scholar]
  20. Martin M, Masshofer L, Temming P, et al. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet 2013; 45 : 933-6. [Google Scholar]
  21. Harbour JW, Roberson ED, Anbunathan H, et al. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet 2013; 45 : 133-5. [Google Scholar]
  22. Wiesner T, Obenauf AC, Murali R, et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 2011; 43 : 1018-21. [Google Scholar]
  23. Testa JR, Cheung M, Pei J, et al. Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet 2011; 43 : 1022-5. [Google Scholar]
  24. Popova T, Hebert L, Jacquemin V, et al. Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet 2013; 92 : 974-80. [Google Scholar]
  25. Scheuermann JC, de Ayala Alonso AG, Oktaba K, et al. Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB. Nature 2010; 465 : 243-7. [Google Scholar]
  26. Hebert L, Bellanger D, Guillas C, et al. Modulating BAP1 expression affects ROS homeostasis, cell motility and mitochondrial function. Oncotarget 2017; 8 : 72513-27. [Google Scholar]
  27. Bononi A, Yang H, Giorgi C, et al. Germline BAP1 mutations induce a Warburg effect. Cell Death Differ 2017; 24 : 1694-704. [CrossRef] [Google Scholar]
  28. Johnson CP, Kim IK, Esmaeli B, et al. Systematic genomic and translational efficiency studies of uveal melanoma. PLoS One 2017; 12 : e0178189. [Google Scholar]
  29. Dujardin G, Daguenet E, Bernard DG, et al. L’épissage des ARN pré-messagers : quand le splicéosome perd pied. Med Sci (Paris) 2016; 32 : 1103-10. [Google Scholar]
  30. Cretu C, Schmitzova J, Ponce-Salvatierra A, et al. Molecular architecture of SF3b and structural consequences of its cancer-related mutations. Mol Cell 2016; 64 : 307-19. [Google Scholar]
  31. Alsafadi S, Houy A, Battistella A, et al. Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage. Nat Commun 2016; 7 : 10615. [Google Scholar]
  32. DeBoever C, Ghia EM, Shepard PJ, et al. Transcriptome sequencing reveals potential mechanism of cryptic 3’ splice site selection in SF3B1-mutated cancers. PLoS Comput Biol 2015; 11 : e1004105. [Google Scholar]
  33. Darman RB, Seiler M, Agrawal AA, et al. Cancer-associated SF3B1 hotspot mutations induce cryptic 3’ splice site selection through use of a different branch point. Cell Rep 2015; 13 : 1033-45. [Google Scholar]
  34. Joshi P, Halene S, Abdel-Wahab O. How do messenger RNA splicing alterations drive myelodysplasia? Blood 2017; 129 : 2465-70. [Google Scholar]
  35. Shirai CL, Ley JN, White BS, et al. Mutant U2AF1 expression alters hematopoiesis and pre-mRNA splicing in vivo. Cancer Cell 2015; 27 : 631-43. [Google Scholar]
  36. Ilagan JO, Ramakrishnan A, Hayes B, et al. U2AF1 mutations alter splice site recognition in hematological malignancies. Genome Res 2015; 25 : 14-26. [Google Scholar]
  37. Madan V, Kanojia D, Li J, et al. Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. Nat Commun 2015; 6 : 6042. [Google Scholar]
  38. Zhang J, Lieu YK, Ali AM, et al. Disease-associated mutation in SRSF2 misregulates splicing by altering RNA-binding affinities. Proc Natl Acad Sci USA 2015; 112 : E4726-34. [Google Scholar]
  39. Kim E, Ilagan JO, Liang Y, et al. SRSF2 mutations contribute to myelodysplasia by mutant-specific effects on exon recognition. Cancer Cell 2015; 27 : 617-30. [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.