Deepening the understanding of cnvs on chromosome 15q11 – 13 by using hipscs: an overview

HIGHLIGHTS

  • who: CNV and colleagues from the National Research Council (CNR), Italy Utrecht University, Netherlands have published the article: Deepening the understanding of CNVs on chromosome 15q11 - 13 by using hiPSCs: An overview, in the Journal: (JOURNAL)
  • what: The analysis showed a decreased calcium flux in both groups of NPCs; a reduction was also confirmed from the downregulation of downstream effectors, such as the JAK2-PI3K pathway known for its role in modulating neuronal excitability and neurotransmitter release.
  • how: Although this result was expected in the probands carrying the deletion it was not expected . . .

     

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