[2P-1092] Analysis of the tissue-nonspecific alkaline phosphatase mutations in Malaysian patients with hypophosphatasia

〇Hideo Orimo¹, Atsushi Watanabe^2,3, Satomi Saito¹, Tomohiro Matsumura¹, Shiho Saito¹, Motoko Sasaki³, Takashi Okada², Bee Chin Chen⁴, Hui Bein Chew⁴, Wee Teik Keng⁴ (1.Div. of Metabolism & Nutrition,Dept. of Biochem. & Molec. Biol., Nippon Med. Sch., , 2.Div. of Molec. Genetics, Dept. of Biochem. & Molec. Biol., Nippon Med. Sch., 3.Div. of Clinical Genetics, Nippon Med. Sch. Hospital, 4.Dept. of Genetics, Hospital Kuala Lumpur)

ConBio2017

[2P-1093] Analysis of the OPTN mutations regarding its functional changes using NFκB inhibitory- and protein aggregation inducing-activities as evaluation markers

〇Masafumi Ohtsubo¹, Yoshihiro Hotta², Shinsei Minoshima¹ (1.Dept. Photomedic. Genomics, Hamamatsu Univ. Sch. Med., 2.Dept. Ophthalmol., Hamamatsu Univ. Sch. Med.)

ConBio2017

[2P-1094] Function analysis of HTRA1 regulatory element in Patients with Exudative Age-Related Macular Degeneration.

〇Daisuke Iejima¹, Takeshi Iwata¹ (1.Tokyo Medical Center)

ConBio2017

[2P-1095] Generation of iPS cells as a model for NBCCS by using CRISPR/Cas9 System.

〇Yuto Arai¹, Chise Kato¹, Kazuaki Nagao¹, Hiromi Hatsuse², Yoshinaga Takayama¹, Kohzoh Kameyama¹, Akihiro Umezawa³, Katsunori Fujii⁴, Toshiyuki Miyasita¹ (1.Dept. of Mol. Gen., Grad. Sch. of Med. Sci., Kitasato Univ., 2.Dept. of Mol. Gen., Sch. of Med., Kitasato Univ., 3.Center for Regenerative Med., Nat. Cent. for Child Health and Develop., 4.Dept. of Ped., Chiba Univ. Grad. Sch. of Med.)

ConBio2017

[2P-1096] Analysis of novel function of Emerin

〇Takako Abe¹, Ryosuke Yoshizawa¹, Toshiya Hayano¹ (1.Dept. of Life. Sci., Grad. Sch. of Life Sci., Ritsumeikan University)

ConBio2017

[2P-1097] Establishment and analysis of human cell lines with mutant MSH2 found in Lynch syndrome patients

〇Genki Hayashida^1,2, Yoshimichi Nakatsu², Kyoko Hidaka³, Ryosuke Fujikane⁴, Masumi Hidaka³, Shinya Oda⁵, Toshiki Tsurimoto⁶, Teruhisa Tsuzuki⁷ (1.Grad. Sch. of Syst. Life Sci., Kyushu Univ., 2.Dept. of Med. Biophys. & Radiat. Biol., Fac. of Med. Sci., Kyushu Univ., 3.Ctr. for Fundam. Edu., Kitakyushu Univ., 4.Dept. of Physiol. Sci. & Mol. Biol., Fukuoka Dent. Coll., 5.Clin. Res. Inst., Natl. Kyushu Cancer Ctr., 6.Div. of Biol., Fac. of Sci., Kyushu Univ., 7.Adv. Sci. Res. Ctr., Fukuoka Dent. Coll.)

ConBio2017

[2P-1098] Epigenomic abnormality and abberant gene expression in Tsc2 deficient rat ES cells

〇Keiko Nishikawa^1,2, Toshiyuki Kobayashi^1,2, Okio Hino^1,2 (1.Department of Pathology and Oncology, Juntendo University School of Medicine, 2.Department of Molecular Pathogenesis, Juntendo University Graduate school Faculty of Medicine)

ConBio2017

[2P-1099] Strategy to elucidate pathogenesis of CADASIL using transgenic Drosophila models of chimera NOTCH3

〇Ikuko Mizuta¹, Yumiko Azuma¹, Hideki Yoshida^2,3, Masamitsu Yamaguchi^2,3, Toshiki Mizuno¹ (1.Dept. of Neurol., Kyoto Pref. Univ. Med. , 2.Dept. of App. Biol., Kyoto Inst. Tech., 3.Cen.Adv. Insect. Res., Kyoto Inst. Tech.)

ConBio2017

[2P-1100] Pathogenic mechanism of RASopathy mutation

〇Yukinao Shibukawa¹, Natsuko Yamazaki¹, Etsuko Daimon¹, Nobuhiko Okamoto^1,2 (1.Dept.of Mol. Med., Res. ins., OWCH, 2.Dept.of Med. Gen., OWCH)

ConBio2017

[2P-1101] CFTR variants in Japanese children with idiopathic pancreatitis

〇Manami Iso^1,2, Kumiko Yanagi¹, Mitsuyoshi Suzuki², Yumiko Sakurai², Kei Minowa², Toshiaki Simizu², Tadashi Kaname¹ (1.Dept. of Genome. Med., NCCHD, 2.Dept. of Ped., Univ. of Juntendo)

ConBio2017