An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis
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چکیده
منابع مشابه
An Activating STAT3 Mutation Causes Neonatal Diabetes through Premature Induction of Pancreatic Differentiation.
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 differentia...
متن کاملRecessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. These dominantly acting mutations prevent normal folding of proinsulin, which leads to beta-cell death through endoplasmic reticulum stress and apoptosis. We now report 10 different recessive INS mutations in 15 probands with neonatal diabetes. Fu...
متن کاملA heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
Neonatal diabetes is a genetically heterogeneous disorder with nine different genetic aetiologies reported to date. Heterozygous activating mutations in the KCNJ11 gene encoding Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, are the most common cause of permanent neonatal diabetes. The sulphonylurea receptor (SUR) SUR1 serves as the regulatory subunit of the K...
متن کاملPDX1 mutation in permanent neonatal diabetes A novel hypomorphic PDX1 mutation responsible for Permanent Neonatal Diabetes with subclinical exocrine deficiency Running title: PDX1 mutation in permanent neonatal diabetes
Marc Nicolino*, Kathryn C. Claiborn*, Valérie Senée , Anne Boland , Doris A. Stoffers , Cécile Julier 4,5 1 Hôpital Femme-Mère-Enfant, Division of Pediatric Endocrinology, Lyon University, Lyon, France 2 INSERM U870, CIC, Lyon, France. Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism and the Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania Sc...
متن کاملActivating mutations in the ABCC8 gene in neonatal diabetes mellitus.
BACKGROUND The ATP-sensitive potassium (K(ATP)) channel, composed of the beta-cell proteins sulfonylurea receptor (SUR1) and inward-rectifying potassium channel subunit Kir6.2, is a key regulator of insulin release. It is inhibited by the binding of adenine nucleotides to subunit Kir6.2, which closes the channel, and activated by nucleotide binding or hydrolysis on SUR1, which opens the channel...
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ژورنال
عنوان ژورنال: Diabetes
سال: 2017
ISSN: 0012-1797,1939-327X
DOI: 10.2337/db16-0867