Stem cell based models in congenital hyperinsulinism - perspective on practicalities and possibilities
نویسندگان
چکیده
Brief Summary: This paper discusses the use of Pluripotent Stem Cell (PSC)-derived pancreatic islets (SC-islets) for studying basic biology, molecular mechanisms and therapeutic potentials patients with congenital hyperinsulinism (CHI). The availability CHI patient opens new avenues research development treatments.
منابع مشابه
[Congenital hyperinsulinism].
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium channel, whose elements are the sulphonylure...
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INTRODUCTION Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause o...
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ژورنال
عنوان ژورنال: Yearbook of pediatric endocrinology
سال: 2022
ISSN: ['1662-3991', '1662-4009']
DOI: https://doi.org/10.1530/ey.19.2.7