A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome-Reference-Cited by-同舟云学术

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

Published:2018-01-15 Issue:3 Volume:63 Page:387-390
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-017-0396-5.pdf

Reference10 articles.

1. Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K. Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. Am J Med Genet A. 2015;167A:2822–5.

2. Takenouchi T, Okamoto N, Ida S, Uehara T, Kosaki K. Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. Am J Med Genet A. 2016;170A:852–5.

3. Etienne-Manneville S, Hall A. Rho GTPases in cell biology. Nature. 2002;420:629–35.

4. Tu S, Wu WJ, Wang J, Cerione RA. Epidermal growth factor-dependent regulation of Cdc42 is mediated by the Src tyrosine kinase. J Biol Chem. 2003;278:49293–300.

5. Loebel DA, Plageman TF Jr., Tang TL, Jones VJ, Muccioli M, Tam PP. Thyroid bud morphogenesis requires CDC42- and SHROOM3-dependent apical constriction. Biol Open. 2016;5: 130–9.

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