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Exact(28)
Our ability to predict the thermodynamic consequences of even single point mutations is still surprisingly limited, and established methods of measuring stability are slow.
If fecundity costs are present (i.e. f>0), then effective transmission rates remain below 1 so that subsequent spread of male-specific repressive mutations is still possible.
We thus conclude that the frequency of mutations is still within the normal range when NBS patients are compared to controls with a similar age.
However, creating novel animal models to mirror the natural distribution of mutations is still a challenge, due in part to heterogeneity and unknown mutations (i.e., structure aberrations), which need to be revealed via ongoing efforts such as next generation sequencing.
These mutations show an autosomal dominant inheritance with reduced penetrance in NB families and, while ALK mutations have clearly been demonstrated to act as "gain-of-function" mutations [3], [25] [27], the molecular mechanism(s) underlying the effects of NB associated PHOX2B mutations is still to be determined.
However, the nature of inflammation-induced microsatellite mutations is still obscure.
Similar(32)
The causes of mutations are still poorly understood.
The relevant mutations are still scattered among different strains.
Tests to detect cancer-causing mutations are still in their infancy.
In this dataset, BRAF, KRAS, and NRAS mutations were still sensitive to MEK1/2 inhibitors (Fig. 3a, b).
This classification is not always easy to use, as some patients cannot be included (and some genetic mutations are still to be discovered), and it is usually more convenient in practice to distinguish between cases diagnosed before or at birth (i.e., severe forms of OI) and cases diagnosed after birth (i.e., milder forms of OI).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com