若手優秀演題候補口演2

Wed. Nov 16, 2016 3:15 PM - 4:15 PM Room 1 (Hall C)

座長: 三善陽子 (大阪大学大学院医学系研究科小児科学), 室谷浩二 (神奈川県立こども医療センター　内分泌代謝科)

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3:15 PM - 3:27 PM

[若手優秀演題候補口演6] Thymic deletion of ICA69 induces autoimmune diabetes and other endocrine diseases

^○Asako Tajima^1,2, Ichiro Miyata¹, Hiroyuki Ida¹, Massimo Trucco², Yong Fan² (1.Department of Pediatrics, Jikei University School of Medicine, 2.Institute of Cellular Therapeutics, Allegheny Health Network)

3:27 PM - 3:39 PM

[若手優秀演題候補口演7] Protein-Truncating PROKR2 Mutation in a Girl with Central Precocious Puberty: Implications for a Paradoxical Gain-of-Function Mechanism of G-Protein Coupled Receptors

^○鈴木江莉奈¹, 泉陽子¹, 鳥居知宏², 五十嵐麻希¹, 宮戸真美¹, 勝見桃理¹, 鳴海覚志¹, 山内淳司², 藤澤泰子³, 緒方勤³, 深見真紀¹ (1.国立成育医療研究センター　分子内分泌研究部, 2.国立成育医療研究センター　薬剤治療研究部, 3.浜松医科大学　小児科)

3:39 PM - 3:51 PM

[若手優秀演題候補口演8] Genome-wide copy-number analysis of fifty Silver-Russell syndrome patients without known etiology

^○Takanobu Inoue^1,2, Akie Nakamura¹, Tomoko Fuke¹, Kazuki Yamazawa¹, Shinichiro Sano¹, Keiko Matsubara¹, Akira Oka², Maki Fukami¹, Masayo Kagami¹ (1.Department of molecular endocrinology, National Center for Child Health and Development, 2.Department of Pediatrics, The University of Tokyo Hospital)

3:51 PM - 4:03 PM

[若手優秀演題候補口演9] Detection of somatic activating GNAS mutations in girls with isolated autonomous ovarian cyst by next generation sequencing

^○Hironori Shibata¹, Satoshi Narumi^1,2, Tomohiro Ishii¹, Koji Muroya³, Yumi Asakura³, Masanori Adachi³, Goro Sasaki⁴, Takumi Shibazaki⁵, Yosuke Hara⁵, Tomonobu Hasegawa¹ (1.Department of Pediatrics, Keio University School of Medicine, 2.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 3.Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, 4.Department of Pediatrics, Tokyo Dental College Ichikawa General Hospital, 5.Department of Pediatrics, Matsumoto, Shinshu University School of Medicine)

4:03 PM - 4:15 PM

[若手優秀演題候補口演10] Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues

^○Maki Igarashi¹, Kei Takasawa², Akiko Hakoda³, Junko Kanno³, Shuji Takada⁴, Mami Miyado¹, Toshihiro Tajima⁵, Ryohei Sekido⁶, Tsutomu Ogata^1,7, Kenichi Kashimada², Maki Fukami¹ (1.Departments of Molecular Endocrinology, National Research Institute for Child Health and Development, 2.Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), 3.Department of Endocrinology, Miyagi Children’s Hospital, 4.Systems BioMedicine, National Research Institute for Child Health and Development, 5.Department of Pediatrics, Hokkaido University School of Medicine, 6.Institute of Medical Sciences, University of Aberdeen, 7.Department of Pediatrics, Hamamatsu University School of Medicine)