Duke University Medical Center-led research has identified a human-specific DNA enhancer that regulates neural progenitor proliferation and cortical size. Small genetic changes in HARE5 amplify a ...

For our high-throughput screening campaign, we utilized an NSC34 motor neuron cell line expressing an SMN2 minigene reporter ... via qPCR for dose responsiveness and to confirm the desired splicing ...

We have used chemical footprinting, kinetic dissection of reactions and comparative sequence analysis to show that in self‐splicing introns belonging to ... between domain V and one of the intron–exon ...

Although synonymous variations are typically considered non-pathogenic, RNA sequencing (RNA-seq) and minigene analysis revealed that this variation caused the partial loss of exon 9, leading to ...