Article
Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms.
Science translational medicine - 14 Jun 2023
Shima Yasuyuki, Sasagawa Shota, Ota Nakao, Oyama Rieko, Tanaka Minoru, Kubota-Sakashita Mie, Kawakami Hirochika, Kobayashi Mika, Takubo Naoko, Ozeki Atsuko Nakanishi, Sun Xiaoning, Kim Yeon-Jeong, Kamatani Yoichiro, Matsuda Koichi, Maejima Kazuhiro, Fujita Masashi, Noda Kosumo, Kamiyama Hiroyasu, Tanikawa Rokuya, Nagane Motoo, Shibahara Junji, Tanaka Toru, Rikitake Yoshiyuki, Mataga Nobuko, Takahashi Satoru, Kosaki Kenjiro, Okano Hideyuki, Furihata Tomomi, Nakaki Ryo, Akimitsu Nobuyoshi, Wada Youichiro, Ohtsuka Toshihisa, Kurihara Hiroki, Kamiguchi Hiroyuki, Okabe Shigeo, Nakafuku Masato, Kato Tadafumi, Nakagawa Hidewaki, Saito Nobuhito, Nakatomi Hirofumi
Abstract excerpt
Intracranial aneurysms (IAs) are a high-risk factor for life-threatening subarachnoid hemorrhage. Their etiology, however, remains mostly unknown at present. We conducted screening for sporadic somatic mutations in 65 IA tissues (54 saccular and 11 fusiform aneurysms) and paired blood samples by whole-exome and targeted deep sequencing. We identified sporadic mutations in multiple signaling genes and examined...
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