Article

Variant-specific pathophysiological mechanisms of<i>AFF3</i>differently influence transcriptome profiles

2024-01-17

Abstract excerpt

<h4>Background</h4> We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative (DN) mode-of-action, wherein an increased level of AFF3 resulted in pathological effects. <h...

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Literature Corpus work: 59485081-df11-5139-beb6-b3e83e106b3a
DOI: 10.1101/2024.01.14.24301100

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