Conditional genetics and single-embryo RNA-seq show that SETDB1 extinguishes the transient, retroelement-driven transcriptional programs of the totipotent two-cell state to facilitate the exit from totipotency and ensure preimplantation development.
Premature termination of transcription influences ribosomal RNA output and RNA polymerase I drug sensitivity, revealing a mechanism of resistance to transcription-targeting chemotherapy.
The RNA-binding protein BICC1 can act as a genetic disease modifier for kidney cyst formation, potentially explaining the high variability of disease onset and severity in autosomal-dominant polycystic kidney disease patients.
A comprehensive single-cell atlas of AML uncovers regulatory networks and age-dependent molecular differences to advance the understanding of disease mechanisms and enable subtype-specific therapeutic strategies.
Hannu Lahtinen, Jaakko Kaprio ... Pekka Martikainen
Polygenic indices related to the best-established social, psychological, and behavioural mortality risk phenotypes had the strongest associations with mortality.
Excitatory recurrent synapses in the upper pyramidal layer of the prefrontal cortex exhibit delayed short-term facilitation, despite very high vesicular fusion probability, through synaptotagmin 7-dependent overfilling of release sites.