Sentence examples for implications of mutations from inspiring English sources

This result also demonstrates how pathway analyses of mutated genes can potentially provide an incomplete picture of the functional implications of mutations at the gene level.

The physiological implications of mutations underlying monogenic forms of diabetes and polymorphisms underlying complex forms of diabetes are also considered (Table 1).

For example, we do not have unambiguous information on the actual involvement of PARK2 heterozygotes in PD pathogenicity or on the implications of mutations in LRRK2 regions with less known functionality.

Recent studies have suggested that the P2X7R and P2X4 receptors may form heterotrimers when overexpressed by transfection, however, further data on possible heteromeric associations in native cells are needed before the possible implications of mutations in the P2X4 receptor gene (P2XR4) on P2X7R-mediated effects can be determined.

Moreover, in the RP-773 and RP-1058 famities, it was not possible to detect the second mutated allele, so the implication of mutations in this gene in the development of RP is still not clear as was previously reported.

However, in the absence of identification of CACNA1B mutations in other unrelated pedigrees, the implication of mutations in this gene as a cause for M-D is not confirmed.

In addition of the intrinsic importance of cullins as critical players in ubiquitination control, they have recently received additional attention due to implication of mutations in cullin-encoding genes in several human diseases [ 10- 13].

Here, we have summarized the PSEN2 mutations and the potential implications of these mutations in dementia-associated disorders.

In Table 2, the type and functional implication of mutation, and the nucleotide in the homoplasmic individuals of the family and in reference sequences [ 28, 44], is presented for each heteroplasmic position.

Although the implications of these mutations are provocative, it was unclear whether the mutations would impair the function of the resultant proteins.

Secondary outcomes include identification of novel EGFR mutations and resistance mechanisms and a more precise characterization of the frequency and clinical implications of T790M mutations.