Sentence examples for mechanisms defective from inspiring English sources

In 90% of the SDS patients mutations in the SBDS gene were identified and this has provided the molecular basis for investigations into the underlying mechanisms defective in SDS[7].

The fact that IKAP deficiency affects the expression of a large number of genes involved in the nervous system development, points strongly to the possibility that at least one of the mechanisms defective in cells lacking IKAP is transcription regulation, most probably due to lack of proper activity of the Elongator multi-protein complex of which IKAP is a central component [7], [8], [46].

Identified pathogenic mechanisms include defective superoxide clearance caused by impaired copper metalation and activity of superoxide dismutase 1 (SOD1) [13], a copper/zinc enzyme; and defective activity of cytochrome c oxidase subunits CO1 and CO2 - both of which are copper enzymes (reviewed in Ref. [24]).

Indeed, major clinical signs of emotional disturbance (eg, anhedonia) suggest that some emotional mechanisms are defective in patients with schizophrenia.

Goal of our research is to better understand the physical failure mechanisms of defective open TSVs, in order to further improve the yield of TSV production for integrated passive devices (IPD) to be used in radio frequency microelectromechanical system (RF MEMS) applications.

The potential mechanisms underlying defective FcRγ transcription within NK cells are unclear, as FcRγ transcriptional regulation is poorly understood.

Further studies are required to understand what mechanisms underlie defective antibody production and where they operate, i.e. in secondary lymphoid organs or at periphery.

However, the underlying molecular mechanisms causing defective BAX action still remain elusive.

Thus, other mechanisms than defective MMR and HNPCC probably cause rectal cancer development in the majority of young patients.

Mechanisms of defective HR include either germline or somatic BRCA1 and BRCA2 mutations, BRCA1 promoter methylation, and other genetic and epigenetic abnormalities of the HR pathway genes [58].

Neurodegeneration in AD has been associated with aberrant signaling through the cyclin-dependent kinase-5 (CDK5) pathway via its activators p35/p25; however, the role of CDK5 in the mechanisms of defective adult neurogenesis in AD is unknown.