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Article

Neuropathophysiological significance of the c.1449T>C/p.(Tyr64Cys) mutation in the CDC42 gene responsible for Takenouchi-Kosaki syndrome.

Biochemical and biophysical research communications - 3 Sept 2020

Hamada Nanako, Ito Hidenori, Shibukawa Yukinao, Morishita Rika, Iwamoto Ikuko, Okamoto Nobuhiko, Nagata Koh-Ichi

Abstract excerpt

Takenouchi-Kosaki syndrome (TKS) is an autosomal dominant congenital syndrome, of which pathogenesis is not well understood. Recently, a heterozygous mutation c.1449T > C/p.(Tyr64Cys) in the CDC42 gene, encoding a Rho family small GTPase, has been demonstrated to contribute to the TKS clinical features, including developmental delay with intellectual disability (ID). However, specific molecular mechanisms...

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PMID: 32819561
DOI: 10.1016/j.bbrc.2020.06.104

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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