講演・口頭発表等 - 森　崇寧

21. Chinen Takashi, Saeki Eiji, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Akimoto Tetsu. Gitelman症候群の1例　離島における診療経験(A case of Gitelman syndrome: our experience with a patient treated in clinical practice on a local island). Journal of Rural Medicine 2019.11.01

22. Mori T, Chiga M, Fujimaru T, Mandai S, Nanamatsu A, Sohara E, Rai T, Uchida S. More than half of patients clinically diagnosed as Gitelman syndrome in adulthood do not have causal mutations in known pathogenic genes. ASN Kidney Week 2019 2019.11

23. Yoshida Sayaka, Araki Yuya, Mori Takayasu, Sasaki Emi, Kasagi Yuri, Isobe Kiyoshi, Susa Koichiro, Inoue Yuichi, Bomont Pascale, Okado Tomokazu, Rai Tatemitsu, Uchida Shinichi, Sohara Eisei. KLHL3の発現低下はcullin 3のin vivoでの変異によって引き起こされる偽性低アルドステロン症II型の病態発生に関与する(Decreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo). Clinical and Experimental Nephrology 2018.12.01

24. Matsumoto Ayumi, Matsui Isao, Mori Takayasu, Sakaguchi Yusuke, Mizui Masayuki, Ueda Yoshiyasu, Takahashi Atsushi, Doi Yohei, Shimada Karin, Yamaguchi Satoshi, Kubota Keiichi, Hashimoto Nobuhiro, Oka Tatsufumi, Takabatake Yoshitsugu, Sohara Eisei, Hamano Takayuki, Uchida Shinichi, Isaka Yoshitaka. CLCN5遺伝子の新規イントロン変異を原因とするDent病を伴った重症骨軟化症(Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the CLCN5 gene). Internal Medicine 2018.12.01

25. Fujiki T, Ando F, Isobe K, Mori T, Susa K, Nomura N, Sohara E, Rai T, Uchida S.. Tolvaptan activates Nrf2/HO-1 pathway through PERK phosphorylation.. ASN Kidney Week 2018. 2018.10

26. Sohara E, Mori T, Uchida S.. Development and application of comprehensive genetic testing system for major inherited kidney diseases, using next-generation sequencing with custom panels.. 20th Nephrology Symposium. 2018.10

27. Takahashi N, Kikuchi H, Ishihara T, Arita M, Furusho T, Ando F, Mori T, Isobe K, Susa K, Nomura N, Rai T, Uchida S, Sohara E.. Amelioration of Renal Fibrosis and Tubulointerstitial Damage in Fat-1 Transgenic CKD Mice by Compensation of Decreased Omega-3 Fatty Acids in the Kidney.. ASN Kidney Week 2018. 2018.10

28. Shoda W, Nomura N, Ando F, Isobe K, Mori T, Susa K, Sohara E, Rai T, Uchida S.. Molecular mechanism of high-potassium induced Na-Cl cotransporter dephosphorylation.. ASN Kidney Week 2018. 2018.10

29. Mandai S, Mori T, Nomura N, Furusho T, Arai Y, Kikuchi H, Sasaki E, Sohara E, Rai T, Uchida S.. WNK1 Regulates Skeletal Muscle Hypertrophy by Modulating Phosphorylation, Nuclear Localization, and Transcriptional Activity of FoxO4.. ASN Kidney Week 2018. 2018.10

30. Hashimoto H, Nomura N, Shoda W, Isobe K, Kikuchi H, Yamamoto K, Fujimaru T, Ando F, Mori T, Okado T, Rai T, Uchida S, Sohara E.. Metformin has natriuretic effects through reduction of the sodium-chrolide cotransporter phosphorylation.. ASN Kidney Week 2018. 2018.10

31. Furusho T, Sohara E, Mandai S, Kikuchi H, Ando F, Zeniya M, Mori T, Nomura N, Rai T, Uchida S.. WNK1-SPAK-NCC signaling cascade is involved in salt sensitive hypertension induced by aristolochic acid nephropathy.. ASN Kidney Week 2018. 2018.10

32. 4. Fujimaru T, Mori T, Mandai S, Chiga M, Kikuchi H, Ando F, Mori Y, Susa K, Isobe K, Iimori S, Nomura N, Naito S, Okado T, Rai T, Nagatsuji K, Nagahama K, Mishima E, Mochizuki T, Sekine A, Hoshino J, Ubara Y, Uchida S, Sohara E.. Genomic Background of Adults with Suspected Ciliopathy on Renal Biopsy.. ASN Kidney Week 2018. 2018.10

33. Mori T. Genome big data will open the way of the future in nephrology.. 5th Next Generation Kidney Research Meeting, Tokyo 2018.08.18

34. Miyamoto Satoko, Ohkubo Atsushi, Seshima Hiroshi, Yamamoto Hiroko, Itagaki Ayako, Maeda Takuma, Kurashima Naoki, Mori Takayasu, Iimori Soichiro, Naito Shotaro, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi, Okado Tomokazu. 連続3日間の選択的血漿交換療法による自己抗体、免疫グロブリンおよび凝固因子の除去ダイナミクス(Removal Dynamics of Autoantibodies, Immunoglobulins, and Coagulation Factors by Selective Plasma Exchange on Three Consecutive Days). Therapeutic Apheresis and Dialysis 2018.06.01

35. 5. Fujimaru T, Mori T, Sekine A, Mandai S, Chiga M, Kikuchi H, Ando F, Nomura N, Iimori S, Naito S, Okado T, Rai T, Hoshino J, Ubara Y, Uchida S, Sohara E.. Genomic diagnosis of adult polycystic kidney disease with no family history.. ISN Frontiers Meetings 2018. 2018.02

36. Takayasu Mori, Motoko Chiga, Takuya Fujimaru, Shintaro Mandai, Shota Watanabe, Yasuhisa Nakamura, Takehiro Morishita, Osamu Uemura, Eri Imai, Shuzo Kaneko, Yusuke Tsukamoto, Eisei Sohara, Tatemitsu Rai, Shinichi Uchida. We propose single heterozygous mutation in ATP6V0A4 as novel genetic cause of dRTA. The 50th Annual Meeting of the American Society of Nephrology 2017.11.02 New Orleans, LA.

37. Takehara Eriko, Mandai Shintaro, Shikuma Satomi, Akita Wataru, Chiga Motoko, Mori Takayasu, Oda Takashi, Kuwahara Michio, Uchida Shinichi. 補体因子H変異を伴うモノクローナル免疫グロブリンG沈着症を合併する感染後増殖性糸球体腎炎(Post-infectious Proliferative Glomerulonephritis with Monoclonal Immunoglobulin G Deposits Associated with Complement Factor H Mutation). Internal Medicine 2017.04.01

38. Mori Takayasu, Hosomichi Kazuyoshi, Chiga Motoko, Mandai Shintaro, Nakaoka Hirofumi, Sohara Eisei, Okado Tomokazu, Rai Tatemitsu, Sasaki Sei, Inoue Ituro, Uchida Shinichi. カスタムパネルによる次世代シーケンシングを用いた主要な遺伝性腎疾患に対する包括的遺伝子検査手法(Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel). Clinical and Experimental Nephrology 2017.02.01

39. Mori T, Uchida S, Nickerson DA, Bamshad MJ, Chong JX and University of Washington Center for Mendelian Genomics.. Using maximum allele frequencies across populations greatly increases power for Mendelian gene discovery.. American Society of Human Genetics (ASHG) 2016 Annual Meeting. 2016.10.01 Vancouver

40. Takayasu Mori, Kazuyoshi Hosomichi, Eisei Sohara, Tatemitsu Rai, Sei Sasaki, Ituro Inoue, Shinichi Uchida.. Comprehensive diagnosis of hereditary kidney diseases by a customized diagnostic panel of targeted exome sequencing.. The 47th Annual Meeting of the American Society of Nephrology 2014.11 Philadelphia