Medical Knowledge Cockpit megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

• PI3K-Akt signaling pathway
  Homo sapiens (human) 3 genes

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• Apoptosis
  Homo sapiens (human) 3 genes

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• VEGF signaling pathway
  Homo sapiens (human) 3 genes

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• Osteoclast differentiation
  Homo sapiens (human) 3 genes

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• Focal adhesion
  Homo sapiens (human) 3 genes

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• Jak-STAT signaling pathway
  Homo sapiens (human) 3 genes

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• Prostate cancer
  Homo sapiens (human) 3 genes

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AKT3

• Identification of a human Akt3 (protein kinase B gamma) which contains the regulatory serine phosphorylation site
• Characterization of PDK2 activity against protein kinase B gamma
• Identification of serine 643 of protein kinase C-delta as an important autophosphorylation site for its enzymatic activity.

PIK3R2

• The involvement of the proto-oncogene p120 c-Cbl and ZAP-70 in CD2-mediated T cell activation
• Specific association of the beta isoform of the p85 subunit of phosphatidylinositol-3 kinase with the proto-oncogene c-cbl
• Expression and characterization of the p85 subunit of the phosphatidylinositol 3-kinase complex and a related p85 beta protein by using the baculovirus expression system

PIK3CA

• Activation of phosphoinositide 3-kinase by interaction with Ras and by point mutation
• The anti-apoptotic effect of Notch-1 requires p56lck-dependent, Akt/PKB-mediated signaling in T cells
• Phosphatidylinositol (PI) 3-kinase and PI 4-kinase binding to the CD4-p56lck complex: the p56lck SH3 domain binds to PI 3-kinase but not PI 4-kinase
• Phosphatidylinositol 3-kinase: structure and expression of the 110 kd catalytic subunit
• PIK3CA as an oncogene in cervical cancer

PIK3CA

Somatic tumors

colorectal, gastric, glioblastoma, breast

Tumor types germline

Cancer Syndrom

Translocation partner

Name

phosphoinositide-3-kinase, catalytic, alpha polypeptide

Chromosome banding

3q26.3

Cancer molecular gen.

Dom

Mutation type

Mis

Other syndrome disease