At that time, it will also be important to re-assess the above-mentioned concept of disease susceptibility pathways leading to disease overall, and single disease modifying genes defining the specific disease course.
GeneCards [ 24] documents the involvement of POU3F2 in the neurogenesis pathway and in SIDS (Sudden Infant Death Syndrome) susceptibility pathways.
The majority of genomic studies used to identify susceptibility pathways involved in disease pathologies have been performed in the mouse.
For the great majority of these associations, the causal variant(s), and even the causal gene, are unknown; thus, the identification of novel candidate genetic susceptibility pathways through this approach is not straightforward.
These findings introduce a new insight in biology of hereditary breast cancer, defining specific BRCAX subgroups that could help in the search for novel susceptibility pathways in hereditary breast cancer.
These findings introduce a new insight in the biology of hereditary breast cancer, defining specific BRCAX subgroups, which could help in the search for novel susceptibility pathways in hereditary breast cancer.
Furthermore, we aim to identify novel susceptibility genes, pathways and causal genetic variants in order to help understanding the pathophysiology of preeclampsia and also cardiovascular disease in women.
For example, proliferation signalling is known to negatively regulate apoptosis susceptibility, and pathways involved in sensing and counteracting the damage inflicted by inducers of intrinsic apoptosis (e.g., genotoxic agents and ionising irradiation) contribute towards defining resistance towards apoptosis initiation.
In our own perceptive, incorporating the internal structure or topological properties and environmental triggers into pathway-based analyses is essential for fully assessing the susceptibility of a pathway to a disease.
It is probable that a core determinant for some, if not all, FA genes governs the susceptibility of FA pathway gene mutations and, thus, of FA clinical manifestations.
