Caught in the AKT: Identification of a de novo pathway in MCAP and MPPH and its therapeutic implications

Clinical Genetics

Volumn 82, Issue 6, 2012, Pages 521-522

  Fam, H K ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ISOENZYME; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B;

ALEXANDER DISEASE; BRAIN CAPILLARY; CANCER THERAPY; CLINICAL FEATURE; COWDEN SYNDROME; DOWNSTREAM PROCESSING; EXOME; GENE MUTATION; GENE SEQUENCE; GERM LINE; HUMAN; HYDROCEPHALUS; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; LYMPHOBLASTOID CELL LINE; MICROGYRIA; MOSAICISM; NOTE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PROSPECTIVE STUDY; SIBLING; SKULL TUMOR;

EID: 84869024908     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12003     Document Type: Note

References (3)

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.