ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This molecular study explored the role of microRNAs (miRNAs) in mammalian sex determination. It used bulk and single-cell RNA-seq (scRNA-seq) alongside time-course expression analyses in a knockout mouse model to assess the role of the miR-17~92 cluster in this process.miRNAs are small, single-stranded, non-coding RNA molecules, 21 to 23 nucleotides in length, that mediate post-transcriptional gene regulation. Hurtado A et al. d...

Cell Rep. 2021 Apr 13;35(2):108981. doi: 10.1016/j.celrep.2021.108981. PMID: 33852861.Mutations in the promotor region of the insulin gene are associated with a subtype of neonatal diabetes mellitus (NDM). These mutations lead to abnormal transcription of the insulin gene and do so by deleting the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in ...