Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thou...

6-[18F]fluoro-L-DOPA is a radiotracer widely used in the diagnosis of range diseases, including neuro-oncology, endocrinology, and Parkinson’s disease. To meet rapidly growing clinical need for this radioactive compound, study reports an optimized radiosynthesis molecule, which proved to be highly reliable compatible with different types automated radiosynthesizers. Moreover, 6-[18F]fluoro-L-DO...

The beta-cell ATP-sensitive potassium (K(ATP)) channel composed of sulfonylurea receptor SUR1 and potassium channel Kir6.2 serves a key role in insulin secretion regulation by linking glucose metabolism to cell excitability. Mutations in SUR1 or Kir6.2 that decrease channel function are typically associated with congenital hyperinsulinism, whereas those that increase channel function are associ...