Article
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.
American journal of human genetics - 11 Jul 2013
Chudasama Kishan Kumar, Winnay Jonathon, Johansson Stefan, Claudi Tor, König Rainer, Haldorsen Ingfrid, Johansson Bente, Woo Ju Rang, Aarskog Dagfinn, Sagen Jørn V, Kahn C Ronald, Molven Anders, Njølstad Pål Rasmus
Abstract excerpt
The phosphatidylinositol 3 kinase (PI3K) pathway regulates fundamental cellular processes such as metabolism, proliferation, and survival. A central component in this pathway is the p85α regulatory subunit, encoded by PIK3R1. Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short...
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