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Global age-sex-specific mortality, life expectancy, and population estimates in...

Schumacher, AE; Kyu, HH; Aali, A; Abbafati, C; Abbas, J; Abbasgholizadeh, R; Abbasi, MA; Abbasian, M; Abd ElHafeez, S; Abdelmasseh, M; Abd Elsalam, S

Background: Estimates of demographic metrics are crucial to assess levels and trends of population health outcomes. The profound impact of the COVID-19 pandemic on populations worldwide has underscored the need for timely estimates to understand this unprecedented event within the context of long-term population health trends. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 provides n...


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, J

Coats 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...


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