Sentence examples for involvement of mutations from inspiring English sources

The data on Kir4.1 localization and function in β2−/−/γ3−/− mice are of special interest because a number of recent articles demonstrated the involvement of mutations of the KCNJ10 gene in human disorders, such as the EAST syndrome [14] [18].

A particular family of ubiquitin ligases, called RBR, has recently received a significant degree of attention, particularly due to the involvement of mutations in the gene that encodes one of them, parkin, in the genesis of Parkinson's disease (reviewed in [5], [6]).

The potential involvement of mutations in more than one causative gene has also been described in LCA [ 129].

Indeed, previous work has reported the involvement of mutations in genes such as BRAF, PIK3CA, and PTEN [ 1, 3– 5].

Many genes have been investigated for mutation to elucidate mechanisms of colorectal cancer development, with these investigations demonstrating the involvement of mutations in colorectal carcinogenesis and progression.

The paradigm of these oncogenes is ras, because of the involvement of mutations in ras itself in about 20% of human tumours.

To examine the involvement of mutation-driven resistance mechanisms in the multidrug-resistant phenotype, the relative mRNA expression of the genes encoding the major P. aeruginosa efflux pumps (mexB, mexD, mexF and mexY) and the chromosomal cephalosporinase (ampC) was determined by real-time PCR as described elsewhere [ 24, 25].

COL1A2, COL3A1, COL5A2 are a group of collagen genes in which mutations are associated with several connective diseases such as the involvement of COL3A1 mutations in intracranial aneurysms and Ehlers-Danlos syndrome type IV with aortic and arterial aneurysms [ 61, 62].

Thus, to further evaluate involvement of eIF2B mutations in apparently isolated cases of POF, we restricted our screening to the 10 mutations associated with the late onset form (group 3) of eIF2B-related disorders.

Far less clear is the possible involvement of NR5A1 mutations in cryptorchidism.

To clarify the involvement of these mutations in improving organic solvent tolerance, they were introduced into the E. coli JA300 chromosome by site-directed mutagenesis using λ red-mediated homologous recombination.