Sentence examples for mutations in disordered from inspiring English sources

It was found that mutations that cause disorder tendencies to flip to structure tendencies are the most likely mutations in disordered regions to be disease-causing [ 5].

Also note the earlier work cited above indicating that 114/122 mutations in disordered regions proved to be deleterious [ 12].

In contrast, although rates of frameshifting mutations in disordered regions and Pfam domains are similar, nonframeshifting indels in disordered regions are much more abundant, approaching the frequencies observed in pseudogenes and noncoding DNA.

As indicated above 114/122 mutations in disordered regions were associated with disease [ 12], so we also need to consider the possibility that SNVs causing negative Δ DS might also be deleterious.

Such effects have been shown for the yeast kinase Ime2 (Guttmann-Raviv et al., 2002) and mouse transcription factor Hes7 (Hirata et al., 2004), where mutations in disordered segments lead to changes in protein half-life, which in turn severely deregulate signaling and development, respectively.

Next-generation sequencing allows parallel sequencing and duplication/deletion analysis of many genes simultaneously, which is appropriate for screening of mutations in disorders with heterogeneous genetic backgrounds.

Our observations indicate that despite the variety of mutations found in CHM patients, in each case the effect of the mutation was the same in disordering trafficking and exocytosis in fibroblasts and monocytes.

Such a moderate effect is consistent with the participation of such alleles as susceptibility factors in multigenic disorder, as compared with the direct and more dramatic effects of mutations in monogenic disorders.

He made fundamental contributions toward elucidating the role of mutations in genetic disorders, and therefore was aware of the pain the parents of the affected children bear, and the misery that affected children endure.

Although the sensitivity of TGGE and DGGE in detecting point mutations in genetic disorders and other settings is reported to be close to 100percenttheseese methods have never become popular, which is related to the perception that it is difficult to design adequate PCR primers and set up the assays.

Further genetic technological advances are still needed to diagnose the remaining unknown mutations in this disorder.