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Result
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including variants. Eight U2AF2 variants dysregulated s...
Human genetics
- 2024 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Result
Cancer-Associated Substitutions in RNA Recognition Motifs of PUF60 and U2AF65 Reveal Residues Required for Correct Folding and 3 ' Splice-Site Selection
U2AF65 (U2AF2) and PUF60 (PUF60) are splicing factors important for recruitment of the U2 small nuclear ribonucleoprotein to lariat branch points and selection of 3 ' splice sites (3 ' ss). Both proteins preferentially bind uridine-rich sequ...
Oncology
- 2020 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
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