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A congenital hydrocephalus causing mutation in Trim71 results in stem cell differentiation defects through inhibiting <i>Lsd1</i> mRNA translation

2022-04-14

Abstract excerpt

Congenital hydrocephalus (CH) is a major cause of childhood morbidity. Mono-allelic mutations in Trim71, a conserved stem-cell-specific RNA-binding protein, cause CH, however, molecular basis for pathogenesis mediated by these mutations remains unknown. Here, using mouse embryonic stem cells as a model, we reveal that the mouse R783H mutation (R796H in human) significantly alters Trim71’s mRNA substrate specificit...

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Literature Corpus work
e9b2063f-fa7f-5c94-8b0f-513698d6c0f8
DOI
10.1101/2022.04.14.488304
Open publication

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A congenital hydrocephalus causing mutation in Trim71 results in stem cell differentiation defects through inhibiting <i>Lsd1</i> mRNA translationDOI 10.1101/2022.04.14.488304
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