-- Poster B321: Peixin Boon will present "Is #KCNA2 haploinsufficient"? We show that loss-of-function variants have a hierarchy of negative dominance, from strong to very weak--the latter suggesting that the gene of an abundant inward rectifier shows haploid insufficiency in humans.

Transcriptional regulation of KCNA2 coding Kv1.2 by EWS::FLI1: involvement in controlling the YAP/Hippo signalling pathway and cell proliferation - Cell Communication and Signaling Background Ewing sarcoma (ES), the second main pediatric bone sarcoma, is characterised by a chromosomal translocation leading to the formation of fusion proteins like EWS::FLI1. While several studies...

Very pleased to share our last collaborative publication with Child team #CRCI2NA @inserm.fr @insermgrandouest.bsky.social #cancéropole_Grand_Ouest #Ewing_sarcoma #KCNA2 #Kv1.2 #EWS::FLI1 #YAP/Hippo

biosignaling.biomedcentral.com/articles/10....

Welcome to Bluesky Peter (@epilepsy-sci.bsky.social). I have added you to the rare #epilepsy starter pack 🤩

#KCNA2 #KCNA1 #SCN1A