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A <i>Drosophila Su(H)</i> Model of Adams-Oliver Syndrome Reveals Notch Cofactor Titration as a Mechanism Underlying Developmental Defects

2021-09-24

Abstract excerpt

<h4>ABSTRACT</h4> Notch signaling is a conserved pathway that converts extracellular receptor-ligand interactions into changes in gene expression via a single transcription factor (CBF1/RBPJ in mammals; Su(H) in Drosophila ). In humans, RBPJ variants have been linked to Adams-Oliver syndrome (AOS), a rare autosomal dominant disorder characterized by scalp, cranium, and limb defects. Here, we found that a previou...

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Literature Corpus work
5cedb4a9-47ea-583e-a32a-49c84a1552b5
DOI
10.1101/2021.09.24.461537
Open publication

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