PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis

ABSTRACT Aims/Introduction Phosphatidylinositol 3‐kinase (PI3K) plays a key role in insulin signaling, and mutations in PIK3R1, which encodes a regulatory subunit (p85α) of this enzyme, are responsible for SHORT syndrome, which is associated with insulin‐resistant diabetes. We here describe four Jap...

Full description

Saved in:
Bibliographic Details
Main Authors: Tomofumi Takayoshi, Yushi Hirota, Aki Sugano, Kenji Sugawara, Takehito Takeuchi, Mika Ohta, Kai Yoshimura, Seiji Nishikage, Akane Yamamoto, Yu Mimura, Shinji Higuchi, Jun Mori, Rie Kawakita, Tohru Yorifuji, Yutaka Takaoka, Wataru Ogawa
Format: Article
Language:English
Published: Wiley 2025-08-01
Series:Journal of Diabetes Investigation
Subjects:
In silico analysis
Insulin resistance syndrome
PIK3R1 mutation
Online Access:https://doi.org/10.1111/jdi.70062
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items