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We constructed the R687A mutation and tested it functionally.
To gain insight into whether the SOC current inhibitory effect of P100 may have physiological relevance, we used the mutant P100 expression construct bearing the disease-causing R4227X mutation and tested for the effect of the mutation on SOC current inhibition.
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In the course of this analysis we have re-examined the effects of dCTCF null mutations, and tested whether dCTCF proteins lacking the CP190 interaction domain or the dCTCF dimerization/multimerization domain can rescue the null mutation.
Here, we present a novel approach to analyzing correlated mutations and testing their validity.
In a recent study Tate and co-workers [ 42 ] improved the stability of the β1-adrenergic receptor by making point mutations and testing the resulting mutants for activity as a function of temperature.
This abundance of information places new requirements on traditional disease models, which have the potential to be used to confirm newly identified pathogenic mutations and test the efficacy of emerging therapies.
The primary aims of this study were to examine the phenotypes associated with sarcomere protein (SP) gene mutations and test the hypothesis that variation in non-sarcomere genes modifies the phenotype.
Studies of genetic high-risk individuals are limited by the mutation and testing rate.
Fourteen KMT2D and two KDM6A nonsense mutations were selected and tested.
The other set consisted of 101 BRCA mutation-positive families counselled and tested at the University Medical Centre Groningen.
The Mutator tool (7) uses regular expressions to recognize mutations and was tested on mutations related to Fabry disease.
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