A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association

RAC1 at 7p22.1 encodes a RAC family small GTPase that regulates actin cytoskeleton organization and intracellular signaling pathways. Pathogenic RAC1 variants result in developmental delay and multiple anomalies. Here, exome sequencing identified a rare de novo RAC1 variant [NM_018890.4:c.118T > ...

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Detalles Bibliográficos
Autores principales: Seyama, Rie, Nishikawa, Masashi, Uchiyama, Yuri, Hamada, Keisuke, Yamamoto, Yuka, Takeda, Masahiro, Ochi, Takanori, Kishi, Monami, Suzuki, Toshifumi, Hamanaka, Kohei, Fujita, Atsushi, Tsuchida, Naomi, Koshimizu, Eriko, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Makino, Shintaro, Yao, Takashi, Ito, Hidenori, Itakura, Atsuo, Ogata, Kazuhiro, Nagata, Koh-ichi, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10275923/
https://www.ncbi.nlm.nih.gov/pubmed/37328543
http://dx.doi.org/10.1038/s41598-023-36381-0

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