Within the IDH-mutated and TP53 or ATRX mutated tumors, mutations in four genes out of the 15 identified in the TCGA dataset (PIK3R1, PKHD1, NEB1, and NOTCH2) were identified.
A new compilation of 324 mutations in four major proteins from the complement alternative pathway reveals mutational hotspots in factor H and complement C3, and less so in factor I and membrane cofactor protein.
AI is associated with different mutations in four genes: enamelin (ENAM), amelogenin (AMGX), kallikrein (KLK4) and enamelysin (MMP-20).
Furthermore, by injecting well-designed sgRNA plasmids at the optimal concentration we determined, we could efficiently generate mutations in four genes in one step.
Using this neurodegenerative phenotype as a sensitized background for a genetic modifier screen, we have identified mutations in four genes: staufen, muscleblind, split ends, and CG3249.
To date, the cold-adapted influenza vaccine, with attenuating mutations in four of the eight genome segments (Maassab and DeBorde 1985), has never reverted to virulence in a vaccinee (Tosh et al. 2008).
In early 2007, we identified two Oriental-specific FLG mutations in four Japanese families with IV and reported that filaggrin mutations were also significant predisposing factors for AD in Japan.
Molecular analysis showed the previously described R141H, V231M, and T237M Pmutationsinns in four patients as well as 3 rare mutations (ΔC389, L104V, and IVS1 –1 G→A) in the PMM2 gene in two Asian patients.
In a cohort of KSS individuals without mutations in EHMT1 (the only gene known to be disrupted in KSS until now), we identified de novo mutations in four genes, MBD5, MLL3, SMARCB1, and NR1I3, all of which encode epigenetic regulators.
In 2007 we published NEB mutations in four Finnish distal myopathy families with no readily detectable nemaline bodies in their biopsies and in 2011 we described two NM patients with distal muscle weakness.
Mice with mutations in four nonreceptor tyrosine kinase genes, fyn, src, yes, and abl, were used to study the role of these kinases in long-term potentiation (LTP) and in the relation of LTP to spatial learning and memory.
