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Keywords: RASopathy
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Journal Articles
In collection:
Rare Disease Translational Research
George R. Bjorklund, Katherina P. Rees, Kavya Balasubramanian, Lauren T. Hewitt, Kenji Nishimura, Jason M. Newbern
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050570.
Published: 2 July 2024
... the RASopathies, which typically exhibit ERK1/2 hyperactivation in neurons and non-neuronal cells. To better understand how excitatory neuron-autonomous ERK1/2 activity regulates forebrain development, we conditionally expressed a hyperactive MEK1 (MAP2K1) mutant, MEK1 S217/221E , in cortical excitatory neurons...
Includes: Supplementary data
Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050609.
Published: 7 June 2024
...Katherine A. Rauen; William E. Tidyman ABSTRACT RASopathies are rare developmental genetic syndromes caused by germline pathogenic variants in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway. Although the incidence of each RASopathy...