3 documents found, page 1 of 1
Global, Regional, and National Cancer Incidence, Mortality, Years of Life Lost,...
Fitzmaurice, C; Akinyemiju, T; Al Lami, F; Alam, T; Alizadeh-Navaei, R; Allen, C; Alsharif, U; Alvis-Guzman, N; Amini, E; Anderson, B; Aremu, OImportance: The increasing burden due to cancer and other noncommunicable diseases poses a threat to human development, which has resulted in global political commitments reflected in the Sustainable Development Goals as well as the World Health Organization (WHO) Global Action Plan on Non-Communicable Diseases. To determine if these commitments have resulted in improved cancer control, quantitative assessments...
Gain-of-Function Mutations in IFIH1 Cause a Spectrum of Human Disease Phenotype...
Rice, G; Toro Duany, Y; Jenkinson, E; Forte, G; Anderson, B; Ariaudo, G; Bader-Meunier, B; Baildam, E; Battini, R; Beresford, M; Casarano, MThe type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demo...
Mutations in CTC1, Encoding Conserved Telomere Maintenance Component 1, Cause C...
Anderson, B; Kasher, P; Mayer, J; Szynkiewicz, M; Jenkinson, E; Bhaskar, S; Urquhart, J; Daly, S; Dickerson, J; O'Sullivan, J; Leibundgut, E; Muter, JCoats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and t...