Caught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications.
نویسنده
چکیده
1. Ku CS, Polychronakos C, Tan EK et al. A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease 2012, http://dx.doi.org/10.1038/mp.2012.58. 2. Lee JH, Huynh M, Silhavy JL et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012: 44 (8): 941–945. 3. Sheppard K, Kinross KM, Solomon B Pearson RB and Philips WA. Targeting PI3 kinase/AKT/mTOR signaling in cancer. Crit Rev Oncogen 2012: 1 (1): 69–95.
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ورودعنوان ژورنال:
- Clinical genetics
دوره 82 6 شماره
صفحات -
تاریخ انتشار 2012