HIGHLIGHTS
- who: Isabel Huang-Doran and collaborators from the The University ofCambridge, United Kingdom have published the research: Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations, in the Journal: JCI Insight. 2016;1(17):e88766. of May/31,/2016
- what: The authors report 5 patients with SHORT syndrome and C-terminal mutations in PIK3R1 encoding the p85u03b1/p55u03b1/p50u03b1 subunits of PI3K which act between INSR and AKT in insulin signaling. Several lines of evidence against this model have been advanced, leading to the alternative hypothesis that reduced activity of negative regulators of . . .
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