Sentence examples for mutations were recently from inspiring English sources

Exact(22)

DJ-1 mutations were recently identified in familial PD.

All three paediatric specific CD mutations were recently confirmed to be associated with CD in a Canadian study [14].

5) Gain-of-function HIF-2α mutations were recently identified in familial erythrocytosis patients [12], [13], but these patients did not display predisposition to tumors, suggesting that activation of HIF is not sufficient to induce tumors in humans.

Parkin, was long suspected to be a tumor suppressor gene because it resides on the long arm of chromosome 6, a segment that is known to be altered or deleted in a wide variety of human cancers and Parkin mutations were recently identified in a surprisingly large number of tumor types [56], [57], [58].

These somatic mutations were recently shown to have oncogenic transforming activity [ 13].

Several inhibitor combinations effective for melanomas with activating RAS or BRAF mutations were recently discovered [ 35].

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For example, the derivation of iPSCs from three GAN patients with different GAN mutations was recently reported and key pathological phenotypes observed.

Consistent with this notion, an elevated frequency of rpoC mutations was recently described in closely related strains from South Africa, suggesting a potential association between the propagation of RIFR strains and the presence of rpoC mutations.

DOI: http://dx.doi.org/10.7554/eLife.02482.008 A high frequency of SETD2 mutations was recently disclosed in several cancers, of which clear cell renal cell carcinoma (ccRCC) shows the highest SETD2 mutation rate (Dalgliesh et al., 2010; Varela et al., 2011).

The relevance of these mutations was recently confirmed by Fu et al. [ 32] who used the WKS1 missense and WKS2 nonsense mutations (Table 2) to validate a candidate gene for broad-spectrum disease resistance.

2, 46 It is noteworthy that frequent coexistence of TET2 and IDH2 mutations was recently described in T-cell lymphomas, 30, 47 whose pathological implication in lymphomagenesis is to be elucidated in future studies.

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