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COSTAIN , Gregory

Last name: COSTAIN

First name: Gregory

2022 (v1)

Publication

Metadata-only

Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder

Nishikawa, Masashi Scala, Marcello Umair, Muhammad

Background RAC3 encodes a Rho family small GTPase that regulates the behaviour and organisation of actin cytoskeleton and intracellular signal transduction. Variants in RAC3 can cause a phenotypically heterogeneous neurodevelopmental disorder with structural brain anomalies and dysmorphic facies. The pathomechanism of this recently discovered...

Uploaded on: February 4, 2024
2022 (v1)

Publication

Metadata-only

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Scala, Marcello Nishikawa, Masashi Ito, Hidenori

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. We investigated a cohort of 10 unrelated participants presenting with global psychomotor...

Uploaded on: February 4, 2024