Sentence examples for implication of mutations 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].
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.
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.
As functional consequences on RAS protein could be different of codons 12 and 13 mutations, the clinical implication of these mutations remained unclear until recently [ 6, 18].
A recent breakthrough in our understanding of the pathogenesis of NB is the identification of activating point mutations in the tyrosine kinase domain of the ALK gene as the main cause of familial NB, and implication of these mutations in a substantial fraction of sporadic NB tumors [ 59- 63].
