Article
An Activating STAT3 Mutation Causes Neonatal Diabetes through Premature Induction of Pancreatic Differentiation.
Cell reports - 11 Apr 2017
Saarimäki-Vire Jonna, Balboa Diego, Russell Mark A, Saarikettu Juha, Kinnunen Matias, Keskitalo Salla, Malhi Amrinder, Valensisi Cristina, Andrus Colin, Eurola Solja, Grym Heli, Ustinov Jarkko, Wartiovaara Kirmo, Hawkins R David, Silvennoinen Olli, Varjosalo Markku, Morgan Noel G, Otonkoski Timo
Abstract excerpt
Activating germline mutations in STAT3 were recently identified as a cause of neonatal diabetes mellitus associated with beta-cell autoimmunity. We have investigated the effect of an activating mutation, STAT3K392R, on pancreatic development using induced pluripotent stem cells (iPSCs) derived from a patient with neonatal diabetes and pancreatic hypoplasia. Early pancreatic endoderm differentiated similarly from...
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