Article

Paradoxical dominant negative activity of an immunodeficiency-associated activating <i>PIK3R1</i> variant

2023-11-02

Abstract excerpt

PIK3R1 encodes three regulatory subunits of class IA phosphoinositide 3-kinase (PI3K), each associating with any of three catalytic subunits, namely p110α, p110β or p110δ. Constitutional PIK3R1 mutations cause diseases with a genotype-phenotype relationship not yet fully explained: heterozygous loss-of-function mutations cause SHORT syndrome, featuring insulin resistance and short stature attributed to reduced p1...

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Literature Corpus work: fce3dc0a-e4ec-5236-bf33-281da7c9ce99
DOI: 10.1101/2023.11.02.565250

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