The importance of these polymerases in mutation avoidance is exemplified in the human genetic disorder xeroderma pigmentosum variant (XPV) in which the XPV gene is defective, resulting in a greatly increased risk of developing sunlight-associated skin cancers.
In Sitosterolemia, this exclusion is defective resulting in the retention of non-cholesterol sterols.
In E9.5 Mab21l2-deficient embryos, morphogenesis of the STM was defective, resulting in defective morphogenesis of the liver (Saito et al., 2012).
Thus, in the absence of MARCKS and p-MARCKS, responsiveness to oxidative stress may be defective, resulting in the elevation of oxidative state in cells.
In Mertk knockout mice, phagocytosis of shed tips from photoreceptor outer segments is defective, resulting in retina degeneration and blindness, and Sertoli cells show a reduced phagocytic activity.
In lupus, these checkpoints appear to be defective, resulting in the emergence of higher numbers of B cells expressing autoreactive BCRs than normal.
Such local effect may, however, have systemic consequences when a given antigen is expressed only in one particular lymph node in which stromal cell-mediated presentation may become defective, resulting in the failure to generate antigen-specific Treg maintenance.
In both type 1 and type 2 diabetes, the β-cells of the islets of Langerhans in the pancreas are either destroyed or defective, resulting in insufficient insulin production.
22 In the present study, autophagy components appeared to increase the peritumoral infiltration of T cells; however, the functions of these T cells may be defective, resulting in a poor prognosis.
Class III mutations result in expression of CFTR at the cell membrane but channel gating is defective and results in impaired chloride transport function.
