As evolution proceeds, mutations alter the content and size of this primordial genetic material, and we get longer and more elaborated pieces".
Different disease-causing mutations alter the Nav1.4 channel function through distinct mechanisms.
This review discusses the recent structural insights and raises the possibility of using modeling for mechanism-based diagnosis of how deleterious mutations alter the integrity of solid tissues.
Pathogenetic mutations alter the number of cysteine residues in the extracellular domain of NOTCH3, which accumulates in small arteries of affected individuals.
Molecular dynamics simulations suggest that the mutations alter the conformational landscape of the enzyme, favoring a more open active site conformation that facilitates the reactivity of the larger substrate.
In the context of MED12, this suggests that the phenotype of each disorder is related to the way in which their respective mutations alter the MED12 sequence and its function.
The mechanism by which LMNA mutations alter the function of the nuclear membrane and cause disease is still unclear.
Here, we investigate how these point mutations alter the aggregation of Aβ in the presence of supported lipid bilayers.
Further experiments are needed to determine whether these mutations alter the relative catalytic rates for PC and LPC.
We affirm that these results strongly support our hypothesis that the Bdel mutations alter the orientation of the β subunit with respect to the α1 subunit.
These mutations alter the half-sites such that they do not conform to the VDRE consensus sequence, and should not bind VDR.
