Sentence examples for a pathogenic point from inspiring English sources

From a pathogenic point of view, it is expected that ulceration is associated with intraplaque haemorrhage [50].

Moreover, the imported oligoribonucleotide designed to target a pathogenic point mutation in mitochondrial DNA was able to induce a decrease in the proportion of mutant mitochondrial genomes.

From a pathogenic point of view, this is explained by the mechanism of arterio-arterial embolism describing the creation and detachment of embolic material from a plaque and its subsequent transportation to the intracranial circulation, causing vascular occlusion and occurrence of symptoms [4].

Similarly, ∼10% of myonuclei in the H222P mouse model of EDMD (containing a pathogenic point mutation at residue 222 in the lmna gene that causes familial A-EDMD and dilated cardiomyopathy in man) exhibit structural abnormalities and heterochromatin redistribution when examined using muscle sections [41].

For example, studies of Ndufs4 knockout mice, and transgenic mice harboring a pathogenic point mutation in ND6, revealed decreased maximal complex I activity, and increased levels of ROS-mediated damage (Quintana et al., 2010; Lin et al., 2012).

Thus, the present findings suggest that a moderate or high physical activity is an indicator of reduced endometrial cancer risk, although this observation still requires epidemiologic confirmation and clearer definition from a pathogenic point of view.

To determine our ability to detect pathogenic mutations, we included one sample from a female patient (S-2) harboring a dominant pathogenic point mutation in the MECP2 gene, (c.538C>T) on the X chromosome.

All three patients had a CNV that deleted the COH1 gene and a second pathogenic point mutation was subsequently identified on the other allele [ 37].

The Sod1 D83G model is the first of its kind carrying a known pathogenic point mutation in the mouse endogenous Sod1 gene, which is identical to a human fALS mutation.

This review will analyze, from a clinical and pathogenic point of view, the existing literature data on the relationship between iron and arterial and venous thrombosis.

However, only a few potentially pathogenic point mutations in FMR1 have so far been described (De Boulle et al, 1993; Collins et al, 2010a, b; Gronskov et al, 2011), and there is a need for detailed genetic and functional analyses to fully characterize these intragenic mutations.