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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.
A similar latitudinal pattern of mtDNA mutations was recently reported in Pacific salmon [ 15] and killer whales [ 14], which suggests that differential patterns of selection in the northern and southern ranges may act on mitochondrial genes.
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.
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.
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.
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DJ-1 mutations were recently identified in familial PD.
However, two 5UTR mutations were recently discovered in unrelated families with typical LCA9-associated phenotypes.
GMPPB is an enzyme in the glycosylation pathway, and GMPPB mutations were recently linked to eight cases of alpha-dystroglycanopathy with a range of symptoms.
In parallel, hypomorphic RAG mutations were recently identified in patients with combined immunodeficiency associated with granulomas and/or autoimmunity (CID-G/AI 32. CID-G/AI 32
Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma.
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