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At neutral pH, apo-AS SOD1, which lacks free cysteines, is incapable of forming amyloid, but the presence of ALS mutations confers a tendency to form amyloid even when free cysteines are absent (Figure 6A).
For example, the presence of BRCA1 and BRCA2 gene mutations confers a 40 80% lifetime risk [ 8], and exogenous hormone exposure is associated with relative risks of 1.5 to 2.0 [ 9].
Some clinical studies have suggested that the presence of BRAF mutations confers a lower likelihood of response or disease control with multi-agent chemotherapy regimens (Kumar et al, 2003).
The high degree of (inherited and de novo) autosomal dominant and X-linked mutations confers a significant risk for transmitting the disease to the patients' offspring, thereby illustrating not only the molecular diagnostic power of NGS, but also the huge impact of this method on the affected families.
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Studies in bacteria and yeast imply mutator mutations confer a selective growth advantage on cells harboring these acquired mutations [ 24, 25].
If mutations confer a proliferative advantage, mutated cells can bypass the in vitro lifespan limit and rapidly replace the existing population [ 14, 15].
The mutations confer a selective advantage to myeloid progenitors at the expense of lymphoid progenitors.
Many TUPs are propagation related; they have mutations conferring a growth advantage and are enriched during the propagations accompanying selection.
As discussed above, whether these mutations confer a cellular fitness advantage should be dependent on the state of the neighborhood (competing cells and the state of the niche).
Background & Aims: Whereas it has conclusively been demonstrated that biallelic MutY human homolog (MYH) mutations confer a significant risk for colorectal cancer (CRC), the influence of monoallelic mutations remains controversial.
Biophysical studies and long-timescale molecular dynamics experiments reveal the mechanisms by which ten point mutations confer a 35,000-fold enhancement in binding affinity, and offer atomic-scale views of the role of conformational dynamics in PD-1/PD-L1 interactions.
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