[1P-1240] The mechanism of CTG repeat expansion in myotonic dystrophy type 1 patient-derived iPS cells

〇Masayoshi Kamon¹, Syuji Wakatsuki¹, Toshiyuki Araki¹ (1.NCNP)

ConBio2017

[1P-1241] Functional analysis of mutant high-temperature requirement serine protease A1 identified in patients with familial cerebral small vessel disease

〇Masahiro Uemura¹, Hiroaki Nozaki ², Taisuke Kato³, Akihide Koyama¹, Osamu Onodera¹ (1.Dept. of Neurol, Brain Res. Insti., Niigata Univ., 2.Dept. Med. Tech., Grad. Sch. of Health., Niigata Univ., 3.Dept. Mol. Neuro., Resource., Niigata Univ.)

ConBio2017

[1P-1242] Analysis of Skeletal muscle pathology in spinal bulbar muscular atrophy (SBMA) by genome editing of CAG repeats

〇Satoshi Tanaka^1,2, Takuji Ito¹, Akinobu Ota³, Takefumi Sone⁴, Shiro Imagama², Yoshitaka Hosokawa³, Hideyuki Okano⁴, Manabu Doyu¹, Yohei Okada¹ (1.Dept. of Neurol, Sch. of Med. Aichi Medical Univ., 2.Dept. of Orthop Surg, Sch. of Med. Nagoya Univ., 3.Dept. of Biochem, Sch. of Med. Aichi Medical Univ., 4.Dept. of Physiol, Sch. of Med. Keio Univ.)

ConBio2017

[1P-1243] A novel frameshift variant of DDHD1 and establishment of Ddhd1 knockout mice

〇Takuya Morikawa¹, Shiroh Miura², Hiroaki Ohishi³, Ryuta Fujioka⁴, Kosei Moriyama⁵, Kengo Kosaka¹, Tomohumi Shimojo¹, Hiroki Shibata¹ (1.Division of Genomics, Nedical Institute of Bioregulation Kyushu University, 2.Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, 3.Division of Epigenomics and Development, Nedical Institute of Bioregulation Kyushu University, 4.Department of Food and Nutrition, Beppu University Junior College, 5.Department of Nutritional Sciences, Nakamura Gakuen University)

ConBio2017

[1P-1244] Development of novel CFTR correctors by drug repositioning

〇Takeshi Fujihara¹, Yoshihiro Yamanishi², Kenichiro Tanaka³, Tsukasa Okiyoneda¹ (1.Dept. of Biomed. Chem., Kwansei Gakuin Univ., 2.Div. of Bioinformatics, Med. Inst. of Bioregulation., Kyushu Univ., 3.Fac. of pharm., Musashino Univ.)

ConBio2017

[1P-1245] Heterozygous missense variant (Arg284His) of TDRKH associated with autosomal dominant motor neuropathy.

〇Kengo Kosaka¹, Shiroh Miura², Tomofumi Shimojo¹, Shuji Nagata³, Takuya Morikawa¹, Ryuta Fujioka⁴, Takuo Nomura⁵, Takayuki Taniwaki², Hiroki Shibata¹ (1.Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 2.Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, 3.Department of Radiology, Kurume University School of Medicine, 4.Department of Food and Nutrition, Beppu University Junior College, 5.Dr. Nomura Clinic of Internal Medicine and Neurology)

ConBio2017

[1P-1246] Deep sequencing analysis of Gorlin syndrome responsible gene PTCH1.

〇Mokuri Masuda¹, Yuta Kanetomo¹, Yoshinaga Takayama¹, Hiromi Hatsuse², Kazuko Fujitani³, Kazuaki Nagao¹, Kohzoh Kameyama¹, Katunori Fujii⁴, Toshiyuki Miyashita¹ (1.Dept. of Mol. Gen., Grad. Sch. of Med. Sci., Kitasato Univ., 2.Dept. of Mol. Gen., Sch. of Med., Kitasato Univ., 3.Gene analysis center, Sch. of Med. Kitasato Univ., 4.Dept. of Ped., Chiba Univ. Grad. Sch. of Med.)

ConBio2017

[1P-1247] Excision of the expanded CTG repeat in myotonic dystrophy using Cas9 nickase

〇Fumiaki Saito¹, Miki Ikeda¹, Hiroki Hagiwara², Toshihiro Masaki², Teruo Shimizu³, Kiichiro Matsumura¹, Masahiro Soon¹ (1.Dept. of Neurology, School of Med., Teikyo Univ., 2.Dept. of Med. Sci., Teikyou Univ. of Sci., 3.School of Sport and Med. Sci., Teikyo Univ)

ConBio2017

[1P-1248] Synaptic cleft protein Hig regulates clustering of acetylcholine receptors via Dα5 subunit

〇Minoru Nakayama^1,3, Osamu Nishimura², Shigehiro Kuraku², Masaki Sone¹, Chihiro Hama³ (1.Toho University, 2.RIKEN CLST, 3.Kyoto Sangyo University)

ConBio2017

[1P-1249] JAK/STAT signaling regulates timing of neural stem cell differentiation by shutting off biological noise

〇Tetsuo Yasugi¹, Yoshitaro Tanaka², Masaharu Nagayama³, Shin-Ichiro Ei², Makoto Sato¹ (1.InFiniti, Kanazawa Univ., 2.Fac. of Sci, Hokkaido Univ., 3.RIES, Hokkaido Univ.)

ConBio2017