Publications by authors named "Julia V Hegert"
Article Synopsis
- Heterozygous mutations in X-linked genes such as MeCP2 lead to different outcomes in girls and boys, with girls experiencing developmental delays and boys facing severe conditions like epileptic encephalopathy due to the loss of a single allele.* -
- Research involving a deceased 2-month-old boy with a specific mutation, along with mouse models, indicates that cerebellar hypoplasia is linked to early neurodegeneration rather than issues with neuron development or migration.* -
- The study concludes that X-linked neurodevelopmental disorders like MeCP2 mutations reflect neurodegenerative processes, with female mutations being less severe due to random X-chromosome inactivation allowing some cells to still express functional genes.*
Diffuse intrinsic pontine glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children, with no effective treatment and near 100% fatality. The failure of most therapies can be attributed to the delicate location of these tumors and to the selection of therapies on the basis of assumptions that DIPGs are molecularly similar to adult disease. Recent studies have unraveled the unique genetic makeup of this brain cancer, with nearly 80% found to harbor a p.
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