Publications by authors named "B J Potter van Loon"

A 65-year-old woman presented with progressively increasing swelling on the right lateral side of her tongue. Further investigation confirmed it to be a schwannoma. Surgical excision of the tumour was performed, resulting in an uncomplicated postoperative recovery with complete preservation of the tongue function.

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Combinational therapies provoking cell death are of major interest in oncology. Combining TORC2 kinase inhibition with the radiomimetic drug Zeocin results in a rapid accumulation of double-strand breaks (DSB) in the budding yeast genome. This lethal Yeast Chromosome Shattering (YCS) requires conserved enzymes of base excision repair.

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Neurodevelopment is a tightly coordinated process, during which the genome is exposed to spectra of endogenous agents at different stages of differentiation. Emerging evidence indicates that DNA damage is an important feature of developing brain, tightly linked to gene expression and neuronal activity. Some of the most frequent DNA damage includes changes to DNA bases, which are recognized by DNA glycosylases and repaired through base excision repair (BER) pathway.

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Cajal-Retzius (CR) cells are a transient neuron type that populate the postnatal hippocampus. To understand how the persistence of CR cells influences the maturation of hippocampal circuits, we combined a specific transgenic mouse line with viral vector injection to selectively ablate CR cells from the postnatal hippocampus. We observed layer-specific changes in the dendritic complexity and spine density of CA1 pyramidal cells.

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Article Synopsis
  • The OXR1 gene plays a crucial role in various biological processes, and mutations in this gene have been linked to conditions like cerebellar atrophy and epilepsy in affected patients.
  • A novel mutation in OXR1 has been identified, leading to severe developmental issues, including cognitive disabilities and sensitivity to oxidative stress, which can be partially rescued by replacing the affected domain.
  • The study highlights the importance of OXR1 in regulating gene expression during neurodevelopment and its potential role in spatial-temporal histone arginine methylation in the brain.
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