Sentence examples for mutations has revealed from inspiring English sources

The restriction of such context to 'disease' states is artificial, however, and the recent ability to survey entire human genomes for biallelic LOF mutations has revealed a surprising landscape of knockout events in 'healthy' individuals, sparking interest in their role in phenotypic diversity beyond disease causation.

Analysis of these mutations has revealed that control of transcriptional pausing is critical for a diverse range of biological pathways essential for animal development and survival.

The genetic basis of MSI-positive CRCs has been extensively studied and the identification of MSI mutations has revealed critical cancer genes.

None of the phase III trials that have compared EGFR-TKIs with standard platinum-based chemotherapy in patients with EGFR mutations has revealed a benefit in terms of OS.

Recent identification of naturally occurring cancer and germline mutations within the ATP-binding motifs of PTEN (heretofore referred to as PTEN ATP-binding mutations) has revealed that these mutations disrupted the subcellular localization and tumor-suppressor activity of PTEN.

The characterization of tissues from previously described patients with MPV17 mutations has revealed a severe mtDNA depletion that was most pronounced in liver, followed by a less severe, but still significant depletion in skeletal muscle.

Using rational design, several amino acids involved in substrate binding have been identified and site-directed mutations have revealed that residue H115 plays an important role in binding.

Mice lacking the expression of various claudins, and human hereditary diseases with claudin mutations, have revealed that the claudin-based barrier function of tight junctions is indispensable in vivo.

The molecular determinants of the modulator binding sites (MBS), analysis of particular MBS electrostatics, and the specific loss or gain of binding after mutations have revealed modulators that have strong potential affinities for specific MBS on given subunits and the role of key amino acids in either promoting or obstructing modulator binding.

Because cells of previously studied WAS patients with truncation mutations have revealed little or no WASP [4], [21], we used flow cytometry to determine whether any WASP is expressed in the brothers' cells.

In vitro studies of RCC-predisposing Type 2A and Type 2B VHL missense mutations have revealed a correlation between the degree of mutant pVHL-mediated HIF-α dysregulation and risk of ccRCC [24].