Sentence examples for mutation and provide from inspiring English sources

Together our findings define distinct neurological outcomes, disease processes, and modes of inheritance arising from different classes of CHT mutation and provide invaluable insight into the biological role of CHT as well as NMJ dysfunction.

Here, we report on the genetic, histologic and metabolic characterization of the E478 human oligodendroglioma xenograft line which carries the endogenous heterozygous IDH1-R132H mutandon and provide novel insight into the metabolism of these tumors.

These data indicate that impaired lysosomal storage is a novel pathological pathway in the aetiology of FTD caused by CHMP2B mutation, and provide evidence that lysosomal degradation is a key pathway in FTD pathogenesis.

For these reasons, we combined HUMARA to detect X-chromosome inactivation pattern and AS-PCR to detect the BRAF mutation and provide a more precise proportion of multifocal PTCs with different clonal origins.

The results reveal in some cases an unexpected resilience of the phosphopeptide binding groove to mutation and provide a better basis to predict the functional consequences of these variants.

Thus, the MD results support a decrease in the level of general base function and overall catalysis because of a reorientation of the carboxylate toward the cavity created by the A114G mutation and provide no indication of an effect due to broader conformational sampling of the carboxylate group.

On the other hand, the expression of genes with larger r i ~ 1 was easily switched by noise or mutation, and provided plasticity to environmental as well as mutational change (see also Figure 5).

Our study presents the first case of a pathogenic gain-of-function miRNA mutation and provides molecular insight into neomorphic actions of emerging and/or mutant miRNAs.

Our study reveals the mechanism for dynamic regulation of PKM2 by post-translational modifications and a patient-derived mutation and provides a structural basis for further investigation of other modifications and mutations of PKM2 yet to be discovered.

We are grateful to Dr. Shohei Mitani and the National Bioresource Project in Tokyo for isolating the tomm-40 deletion mutation and providing it to us.

For this patient, six centers identified a pathogenic MYBPC3 mutation, and provided a diagnosis of 'hypertrophic cardiomyopathy'.