Sentence examples for mutations a major from inspiring English sources

Mitochondrial DNA diseases are transmitted maternally, and for families carrying these mutations, a major, and justifiable, desire is to have unaffected children.

Similarly, Chinnery et al. (2014) state, Mitochondrial DNA diseases are transmitted maternally, and for families carrying these mutations, a major, and justifiable, desire is to have unaffected children.

Of 45 somatic mutations identified in fibroadenomas, the only gene that was recurrently mutated was MED12 22, suggesting that the MED12 exon 2 mutation is a major driving mutation underlying the pathogenesis of fibroadenoma; however, the status of the mutations in phyllodes tumors, related to fibroadenomas, remains to be clarified.

Hence, discriminating background variation from causal mutations remains a major challenge.

Differentiating 'driver' mutations that are functionally relevant from 'passenger' mutations is a major challenge in cancer genomics.

A2143G and A2142G are the most prevalent point mutations, and studies have claimed that these mutations play a major role in clarithromycin resistance [ 5, 23].

The variant allele frequency of Jak1/3 mutations was around 25%% suggesting that cells with these mutations represent a major clonal fraction (Fig.  2c).

Thus, it seems unlikely that compensatory mutations play a major role in driving a lower mean effect of secondary mutations amongst the hub disruption strains.

In addition, 15 of 19 mutations were identified in tumors without gain of copy number of PIK3CA, suggesting that somatic mutations are a major contributory factor in the PIK3CA signaling pathway.

In studies featuring large cohorts of patients, EPAS1 mutations were identified in 5.7% of patients presenting with sporadic PPGLs (18/315, range of 2.3 12%), establishing EPAS1 mutations as a major driver of PPGL6,7,8,9.

The discovery of filaggrin (FLG) null mutations as a major risk factor for eczema represents a milestone toward the understanding of an important mechanism in this complex disease.