RAD51 and RTEL1 compensate telomere loss in the absence of telomerase
Sign Up to like & getrecommendations! Published in 2018 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkx1322
Abstract: Abstract Replicative erosion of telomeres is naturally compensated by telomerase and studies in yeast and vertebrates show that homologous recombination can compensate for the absence of telomerase. We show that RAD51 protein, which catalyzes the… read more here.
Keywords: telomerase; telomere loss; homologous recombination; absence telomerase ... See more keywords
Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia
Sign Up to like & getrecommendations! Published in 2018 at "BMC Bioinformatics"
DOI: 10.1186/s12859-018-2010-z
Abstract: BackgroundNext-generation sequencing of individuals with genetic diseases often detects candidate rare variants in numerous genes, but determining which are causal remains challenging. We hypothesized that the spatial distribution of missense variants in protein structures contains… read more here.
Keywords: missense variants; familial interstitial; patients familial; rtel1 ... See more keywords
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
Sign Up to like & getrecommendations! Published in 2017 at "Haematologica"
DOI: 10.3324/haematol.2017.167056
Abstract: Regulator of telomere elongation helicase 1 (RTEL1) is a DNA helicase involved in telomere maintenance.[1][1],[2][2] Germline biallelic RTEL1 variants have been previously reported in a subset of patients with dyskeratosis congenita (DC) and its severe… read more here.
Keywords: disease extend; extend spectrum; spectrum rtel1; rtel1 ... See more keywords