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Article

miRNA biogenesis and inherited disorders: clinico-molecular insights.

Trends in genetics : TIG - 1 May 2023

Pelletier Dylan, Rivera Barbara, Fabian Marc R, Foulkes William D

Abstract excerpt

MicroRNAs (miRNAs) play vital roles in the regulation of gene expression, a process known as miRNA-induced gene silencing. The human genome codes for many miRNAs, and their biogenesis relies on a handful of genes, including DROSHA, DGCR8, DICER1, and AGO1/2. Germline pathogenic variants (GPVs) in these genes cause at least three distinct genetic syndromes, with clinical manifestations that range from...

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PMID: 36863945
DOI: 10.1016/j.tig.2023.01.009

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