Article
A novel rare variant R292H in RTN4R affects growth cone formation and possibly contributes to schizophrenia susceptibility.
Translational psychiatry - 22 Aug 2017
Kimura H, Fujita Y, Kawabata T, Ishizuka K, Wang C, Iwayama Y, Okahisa Y, Kushima I, Morikawa M, Uno Y, Okada T, Ikeda M, Inada T, Branko A, Mori D, Yoshikawa T, Iwata N, Nakamura H, Yamashita T, Ozaki N
Abstract excerpt
Reticulon 4 receptor (RTN4R) plays an essential role in regulating axonal regeneration and plasticity in the central nervous system through the activation of rho kinase, and is located within chromosome 22q11.2, a region that is known to be a hotspot for schizophrenia (SCZ) and autism spectrum disorder (ASD). Recently, rare variants such as copy-number variants and single-nucleotide variants have been a focus of...
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