Sentence examples for many pathogenic mutations from inspiring English sources

This information can be crucial, because many pathogenic mutations – for example, mutated tumor suppressor genes – are not directly susceptible to targeted therapies.

Many pathogenic mutations reduce hPGRN levels, indicating a haploinsufficiency pathogenic mechanism [7], [8].

In recent years, many pathogenic mutations in the AIFM1 gene have been causally linked to disorders exhibiting abnormal mitochondrial bioenergetics.

The drastic phenotypic manifestation of many pathogenic mutations indicates that the adaptive mechanism is unlikely to explain a substantial fraction of the irreversible states in our data.

By contrast, many pathogenic mtDNA mutations are heteroplasmic, with affected individuals harbouring varying proportions of mutated and wild-type mtDNA [24].

Many pathogenic mtDNA mutations are heteroplasmic, i.e., they coexist with a variable percentage of wild-type mtDNA.

In addition, there is now good evidence that many pathogenic mtDNA mutations are not transmitted (Stewart et al., 2008), thus limiting the availability of mice that can be studied.

Many pathogenic parkin mutations have been shown to cause a loss of parkin function by impairing its solubility, stability or catalytic activity (Henn et al., 2005; Sriram et al., 2005).

Aside from the many unequivocal pathogenic mutations, several variants of unknown clinical significance have been reported in the BRCA1 and BRCA2 genes.

Predictions should be interpreted with caution as many known pathogenic mutations come up as benign, suggesting a high proportion of false-negatives with this method.

Increasing exon- and exome-based sequencing efforts will identify many more putative pathogenic mutations without conclusive segregation-based evidence in a single family.