Publications by authors named "Alexandria H Sjoboen"

Medulloblastoma, a malignant childhood cerebellar tumour, segregates molecularly into biologically distinct subgroups, suggesting that a personalized approach to therapy would be beneficial. Mouse modelling and cross-species genomics have provided increasing evidence of discrete, subgroup-specific developmental origins. However, the anatomical and cellular complexity of developing human tissues-particularly within the rhombic lip germinal zone, which produces all glutamatergic neuronal lineages before internalization into the cerebellar nodulus-makes it difficult to validate previous inferences that were derived from studies in mice.

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Article Synopsis
  • * Group 4 (G4) MB, the most common subtype, is characterized by somatic mutations affecting the core binding factor alpha (CBFA) complex, including changes to genes like CBFA2T2 and OTX2.
  • * Research indicates that G4 MB cells resemble early progenitor cells in the cerebellar region but are stalled in development; targeting OTX2 may help overcome this block and allow these cells to mature normally.
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Dandy-Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiological criteria are used to distinguish them, yet little is known about their differential developmental disease mechanisms. We acquired prenatal cases diagnosed as DWM and CVH and studied cerebellar morphobiometry followed by histological and immunohistochemical analyses.

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