Sentence examples for of functional defect from inspiring English sources

The ability of sulphonylureas to treat patients with ND caused by mutations in KATP channels depends on the severity of functional defect caused by these mutations.

Further analyses, including the expression of BTK in mononuclear cells from the patients and the alteration in the tyrosine 223 phosphorylation in monocytes after activation through Toll-like receptors [ 20], should provide the degree of functional defect of this mutation.

To add further complexity to this classification system, certain mutations may lead to more than one class of functional defect, for example, Phe508del results in class II and III problems [ 12, 13].

The substantial reduction (threefold) in the polysomal fraction of DPYSL2 mRNA transcribed from the SZ-associated risk allele (13 DNRs) is consistent with an effect on translation and is directly proportional to the extent of functional defect observed in the DLA.

This mutation was previously characterized by a low microsatellite instability phenotype [27], and a lack of functional defects, such as defective heterodimerization or ATP hydrolysis [28].

HCA revealed the type of functional defects associated with these mutations, and ligand-dependent restoration of AR functions using experimental conditions that increase the stability of the ligand receptor complex in two of the three patients.

However, such methods are not intrinsically appropriate for the incorporation of functional defects into the 3D structures.

Therefore, the concept of holographic lithography was brought as a breakthrough to generate the periodic structure over large area, replacing the time consuming serial writing process; but, there is still a matter to be solved concerning the creation of functional defects within it.

Herein, we have demonstrated the occurrence of functional defects in the AE3−/− null mice by electroretinogram (ERG) (Fig. 4).

As a further complication, many of the age-related changes observed may be extraneous to the development of functional defects.

Fundamental research over the past decades has led to increased knowledge on neutrophil biology, in particular the elucidaton of functional defects.