Rare variants in , a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hyperte...

by Hatasu Kobayashi, Risako Kabata, Hideyuki Kinoshita, Takaaki Morimoto, Koh Ono, Midori Takeda, Jungmi Choi, Hiroko Okuda, Wanyang Liu, Kouji H. Harada, Takeshi Kimura, Shohab Youssefian, Akio Koizumi
Published 2018-05-01

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.

by Hiroko Okuda, Atsuko Noguchi, Hatasu Kobayashi, Daiki Kondo, Kouji H Harada, Shohab Youssefian, Hirotomo Shioi, Risako Kabata, Yuki Domon, Kazufumi Kubota, Yutaka Kitano, Yasunori Takayama, Toshiaki Hitomi, Kousaku Ohno, Yoshiaki Saito, Takeshi Asano, Makoto Tominaga, Tsutomu Takahashi, Akio Koizumi
Published 2016-01-01

Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease.

by Takaaki Morimoto, Yohei Mineharu, Koh Ono, Masahiro Nakatochi, Sahoko Ichihara, Risako Kabata, Yasushi Takagi, Yang Cao, Lanying Zhao, Hatasu Kobayashi, Kouji H Harada, Katsunobu Takenaka, Takeshi Funaki, Mitsuhiro Yokota, Tatsuaki Matsubara, Ken Yamamoto, Hideo Izawa, Takeshi Kimura, Susumu Miyamoto, Akio Koizumi
Published 2017-01-01

Familial episodic limb pain in kindreds with novel Nav1.9 mutations.

by Risako Kabata, Hiroko Okuda, Atsuko Noguchi, Daiki Kondo, Michimasa Fujiwara, Kenichiro Hata, Yoshifumi Kato, Ken Ishikawa, Manabu Tanaka, Yuji Sekine, Nozomi Hishikawa, Tomoyuki Mizukami, Junichi Ito, Manami Akasaka, Ken Sakurai, Takeshi Yoshida, Hironori Minoura, Takashi Hayashi, Kohei Inoshita, Misayo Matsuyama, Noriko Kinjo, Yang Cao, Sumiko Inoue, Hatasu Kobayashi, Kouji H Harada, Shohab Youssefian, Tsutomu Takahashi, Akio Koizumi
Published 2018-01-01