Sentence examples for mutations may exert from inspiring English sources

These findings may represent a pathologic mechanism for PS1 FAD mutations independent of their effects on γ-secretase activity and demonstrate how dominant PS1 mutations may exert their pathogenic effects by a loss-of-function mechanism.

If real, this observed excess mortality risk in the absence of any cancer suggests that BRCA1/2 mutations may exert biologic effects quite apart from their well-established influence on cancer risk.

While expression levels in fallopian tube epithelium and ovarian cancer were similar for most of our candidate genes, it is important to note that those genes which harbour mutations may exert a tumorigenic effect without an appreciable change in expression levels.

Oncogenic mutations may exert their effect regardless of cell type, producing similar outcomes.

Oncogenic mutations may exert their effect regardless of cell type differences.

Whereas highly penetrant mutations may exert their pathogenic effects with relatively little interaction with other genetic or environmental factors, low-penetrance mutations are generally characterized by significant gene gene and gene environment interactions (Cordell 2009).

However, it is plausible that the mutation may exert some pleiotropic effect on females.

Such a mutation may exert a dominant-negative effect functionally on the mature ATPase or by altering protein assembly, trafficking, or stability.

Our findings suggest that familial mutations in VPS35 do not lead to an overall disruption of VPS35 protein structure and retromer-dependent protein sorting in neurons, implying that mutations may instead exert subtle or selective effects on specific retromer cargo and/or in specific cell types.

Thus, despite the caveat that other gene variants can influence severity in PDB with and indeed without SQSTM1 mutations [20] at least in some cases (i.e. for UBA domain mutations) the SQSTM1 status alone may exert significant effects on disease phenotype via changes in RANK-NF-κB signalling.

It has been shown that housekeeping genes may be particularly confined to chromosome regions possessing the appropriate transcriptional environment; indeed, mutations that alter their location may exert important deleterious pleiotropic effects in diverse tissues and developmental stages (Wang and Zhang 2010).