Concepedia

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome

Midori Motokawa, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Tadashi Matsumoto, Kanako Morifuji, Hirotake Sawada, Toyoki Nishimura, Hiroyuki Nunoi, Koh-ichiro Yoshiura,

Journal of Human Genetics · 2018 · 46 citations · 9 references

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References

9

Structure of Cdc42 in complex with the GTPase-binding domain of the ‘Wiskott–Aldrich syndrome’ protein

Norzehan Abdul-Manan, Behzad Aghazadeh, Grace A. Liu et al. · Nature · 1999 · 320 citations

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Epidermal Growth Factor-dependent Regulation of Cdc42 Is Mediated by the Src Tyrosine Kinase

S. Sean Tu, Wen Jin Wu, Jiabin Wang et al. · Journal of Biological Chemistry · 2003 · 113 citations · Full text

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Macrothrombocytopenia and developmental delay with a <i>de novo CDC42</i> mutation: Yet another locus for thrombocytopenia and developmental delay

Toshiki Takenouchi, Rika Kosaki, Takahiro Niizuma et al. · American Journal of Medical Genetics Part A · 2015 · 97 citations

, , +17

Cdc42, Rac1, and the Wiskott-Aldrich syndrome protein are involved in the cytoskeletal regulation of B lymphocytes

Lisa S. Westerberg, Gediminas Greicius, Scott B. Snapper et al. · Blood · 2001 · 89 citations · Full text

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Further evidence of a mutation in <i>CDC42</i> as a cause of a recognizable syndromic form of thrombocytopenia

Toshiki Takenouchi, Nobuhiko Okamoto, Shinobu Ida et al. · American Journal of Medical Genetics Part A · 2015 · 69 citations

, , +16