Genetically, we identified rare variants by exon resequencing, and examined their functional consequences.
Thus, all the six Arg15 missense substitutions would significantly alter the structure, and we therefore determined their functional consequences on CaSR activity, by expressing them in HEK293 cells that stably expressed the CaSR (HEK-CaSR) (9, 11).
The importance of these interactions has been established by the functional consequences of their replacement with Ala (31).
At the end of this study, it is possible to state that a serious alteration of facial morphology is not always accompanied by functional consequences, and if this happens, it does not always involve all the parameters that determine correct neuromuscular function and mandibular kinesiology.
Therefore, we investigated if signaling by EGF had functional consequences on the proteasomal degradation of Bmi-1.
We next tested if the interactions detected by immunoprecipitation had functional consequences on neuronal sodium currents.
As well, we supplemented the Discussion by phrases on functional consequences of Panx1 deficiency.
One way to answer this question is to investigate examples of sequence mutations that result in disruption of a TFBS by examining the functional consequences for enhancer activity.
To confirm that inducing T cell CD49d overexpression by transfection has functional consequences, we performed both static and flow adhesion assays using control D10 and Cd49d transfectants (26).
