The Molecular Biology Society of Japan

4605 results (3131 - 3140)

[3P-0554] Noncoding variant in IQGAP3 associated with autosomal dominant motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough (HMSNPC).

〇Tomofumi Shimojo1, Shiroh Miura1,2,3, Kengo Kosaka1, EiJi Matsuura4, Kazuhito Noda5, Ryuta Fujioka6, Shin-Ichiro Mori3,7, Fujio Umehara8, Toru Iwaki7, Ken Yamamoto9, Hirotomo Saitsu10, Hiroki Shibata1 (1.Division of Genomics, MIB, Univ of Kyushu, 2.Dept of Medicine, Univ of Ehime, 3.Division of Neurology, Dept of Medicine, Univ of Kurume, 4.Dept of Neurology, Univ of Kagoshima, 5.Nodakousei Clinic, 6.Dept of Food and Nutrition, Univ of Beppu Junior College , 7.Dept pf Neuropathology, Univ of Kyushu, 8.Dept of Neurology, Nanpuh Hospital, 9.Dept of Medical Chemistry, Univ of Kurume, 10.Dept of Biochemistry, Univ of Hamamatsu School of Medicine)

The 42nd Annual Meeting of the Molecular Biology Society of Japan

[3P-0555] A missense mutant of MAP3K7 (p.Ser192Gly) has loss of kinase activity and cause cardiospondylocarpofacial syndrome by dominant negative effect.

〇Tadashi Kaname1, Kumiko Yanagi1, Kuniaki Saito2, Tohru Ishitani3, Meiko Takeshita1, Nana Kobayashi1, Makiko Omata1, Takaya Tohma4, Itsuro Inoue5, Yoichi Matsubara6 (1.Gen Med, NCCHD, 2.Invertebrate Genetics Lab, NIG, 3.Res Inst Microbial Dis, Osaka Univ, 4.Wanpaku Clinic, 5.Hum Genet, NIG, 6.NCCHD)

The 42nd Annual Meeting of the Molecular Biology Society of Japan

[3P-0556] Reverse genetics analysis of the NBS1 I171V variant as a candidate factor underlying the individual differences in radiosensitivity

〇Keita Tomioka1,2, Silvia Natsuko Akutsu1, Hiromi Yanagihara1, Hiroshi Tauchi3, Takashi Yamamoto4, Masao Kobayashi2, Yoshiki Kudo5, Tatsuo Miyamoto1, Shinya Matsuura1 (1.Dept. Genet. and Cell Biol., RIRBM, Hiroshima Univ., 2.Dept. Pediatr., Grad. Sch. of Biomed and Health Sci, Hiroshima Univ., 3.Dept. Biol Sci., Fac. Sci., Ibaraki Univ., 4.Dept. Mol Genet., Grad.Sch. of Integrated Sci. Life, Hiroshima Univ., 5.Dept. Obstet. and Gynecol, Grad. Sch. of Biomed and Health Sci, Hiroshima Univ.)

The 42nd Annual Meeting of the Molecular Biology Society of Japan

4605 results (3131 - 3140)