Sentence examples for implications of mutations in from inspiring English sources

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.

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].

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.

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

The finding of NF1 gene inactivation in sporadic GIST has diagnostic implications, as the molecular identification of mutations in the large and complex NF1 gene is a challenging task.

In a comprehensive review, Gattermann [14] analyzed the implications of mtDNA mutations in leukemogenesis.

In this current manuscript we focus on the biologic implications of SPOP mutations in the prostate cancer context.

Further investigation is warranted as to the functional implications of these mutations in carcinogenesis.

The understanding of the clinical implications of somatic mutations in MM is an evolving field.