Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-107887
Abstract: In 2016, we reported a child with bilateral lung cysts and left lung type II pleuropulmonary blastoma (PPB), classic phenotypes of DICER1 syndrome; we identified a DICER1 hotspot mutation c.5425G>A, p.Gly1809Arg in both a lung… read more here.
Keywords: dicer1; mosaicism; rnase iiib; foregut endoderm ... See more keywords
DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2023.1083382
Abstract: DICER1 is a highly conserved RNase III endoribonuclease essential for the biogenesis of single-stranded mature microRNAs (miRNAs) from stem-loop precursor miRNAs. Somatic mutations in the RNase IIIb domain of DICER1 impair its ability to generate… read more here.
Keywords: thyroid; dicer1 rnase; rnase iiib;