Sentence examples for implication of mutations in from inspiring English sources

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].

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.

Despite limitations due to both potential population stratification bias and heterogeneity in sequencing technologies, all of the five statistical methods used, including burden and bidirectional tests [ Stitziel et al., 2011], agree on a significant enrichment (Supp. Table S2) providing an additional argument in favor of the implication of inhibin mutations in ovarian cancer.

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 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.

In this issue of BMC Biology, for example, Dingli and Pacheco [ 10] discuss the implications of stochastic stem-cell dynamics on the accumulation of mutations in stem-cell populations.

To extend the implication of our data, preliminary work has been employed to specifically detect the presence of mutations in our genes of interest.

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