BDM was a university faculty member and is currently Chief Scientist of the Genetics and IVF Institute, leading efforts in the application of genomic technology for the improved detection of genetic diseases and chromosomal abnormalities in IVF generated embryos.
Hence, considerable interest is now focused on understanding the molecular mechanisms by which UCB exerts such neurodevelopmental abnormality in order to generate effective therapeutic strategies targeting these pathways for treatment.
It is possible that the conflicting findings about increased versus decreased activation in ASD are simply 2 sides of the same underlying abnormality in how information is generated.
These kind of abnormality could be generated by alterations in checkpoint genes (Bub1, BubR1, Bub3, Mad2) such as the heterozygozity observed both in human cancer cells and patients with the rare recessive disorder mosaic variegated aneuploidy [34], [35].
Because human ES cells are susceptible to chromosomal rearrangements and karyotypic abnormalities, the data generated in this study suggest one possible mechanism that may account for some of this instability.
Instead, the evidence appears to be most consistent with the majority of cranial abnormalities in Triceratops being generated by the horns of conspecifics.
However, several studies showed that the abnormality in the sympathetic nervous system might generate and sustain chronic pain [ 11, 24].
Numerical chromosome abnormalities may be generated by centrosome amplification or alterations in the spindle assembly checkpoint [ 8].
NGS-based definition of these abnormalities will also generate a more homogenously defined population by removing variability generated by cytogenetic frequency calls, allowing more reproducibility.
Although we cannot exclude the possibility that our constructs bind to endogenous proteins and interfere with cellular physiology, we did not observe any abnormalities in the transgenic mice generated, with respect to cage behaviour, breeding performance and expression of marker proteins.
