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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Cyclin-dependent kinases and rare developmental disorders

Fig. 2

CDK6/CycD2-centered regulatory network and its involvement in human neurodevelopmental disorders. Cyclin D2 stabilization causes MPPH and can be caused by mutations in the CCND2 gene or in the genes coding for AKT or for the PI3K subunits, which result in GSK3β phosphorylation and inhibition. A number of CDK6 putative phosphorylation substrates and putative interacting partners are involved in MCPH, other microcephalic syndromes, or other neurodevelopmental syndromes. Data sources: the Online Mendelian Inheritance in Man database (www.omim.org) and the Biological General Repository for Interaction Datasets (www.thebiogrid.org)

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