Conference Activities & Talks -

1. Fujimaru T, Mori T, Sekine A, Chiga M, Mandai S, Kikuchi H, Mori Y, Hara Y, Fujiki T, Ando F, Susa K, Iimori S, Naito S, Suwabe T, Ubara Y, Uchida S, Sohara E.. Monoallelic PKHD1 Loss-of-Function Variants Could Be a Cause of Adult Polycystic Kidney Disease. ASN Kidney Week 2024 2024.10.26 San Diego

2. Kanamori T, Udagawa T, Okutsu M, Mori T, Sohara E, Uchida S.. A Missense Mutation in Exon 10 of WT1 Might Lead to Focal Segmental Glomerulosclerosis Due to Its Mislocalization and Downstream Dysregulation. ASN Kidney Week 2024 2024.10.25 San Diego

3. Takayasu Mori. The Significance of NGS Panel Genetic Testing in Chronic Kidney Disease. The 19th Fabry Disease Forum 2024.07.07 Tokyo/Web

4. Takuya Fujimaru, Takayasu Mori, Motoko Chiga, Shintaro Mandai, Yu Hara, Tamami Fujiki, Hiroaki Kikuchi, Yutaro Mori, Fumiaki Ando, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Shinichi Uchida, Eisei Sohara.. Monoallelic IFT140 Pathogenic Variants in Adult Polycystic Kidney Disease Patients Without Family History.. ASN Kidney Week 2023 2023.11.04 Philadelphia

5. Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kohei Yamamoto, Takefumi Suzuki, Motoko Chiga, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Koichiro Susa, University of Washington Center for Rare Disease Research, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara. Discovery of a Novel Candidate Gene Implicated in X-Linked Polycystic Kidney Disease. ASN Kidney Week 2023 2023.11 Philadelphia

6. Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kohei Yamamoto, Takefumi Suzuki, Motoko Chiga, Danny E Miller, Miranda PG Zalusky, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Hiroaki Kikuchi, Koichiro Susa, University of Washington Center for Rare Disease Research, Jessica X. Chong, Michael J. Bamshad, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara. Discovery of a novel responsible gene implicated in X-linked polycystic kidney disease. 第7回文京腎研究会 2023.10.19 東京/Web

7. Fujimaru T, Mori T, Chiga M, Mandai S, Ando F, Mori Y, Susa K, Nakano Y, Shoji T, Fukudome Y, Inaba N, Kitamura K, Nakanishi T, Kimura T, Tamura T, Ozawa K, Uchida S, Sohara E. Underlying Genetic Causes of Adult Patients With ESKD Undergoing Hemodialysis Therapy. ASN Kidney Week 2022 2022.11 Orland

8. Hara Y, Ando F, Oikawa D, Ichimura K, Fujiki T, Mandai S, Mori T, Susa K, Sohara E, Rai T, Tokunaga F, Uchida S. LRBA Is Essential for Urinary Concentration and Body Water Homeostasis. ASN Kidney Week 2022 2022.11

9. Yanagi T, Kikuchi H, Takeuchi K, Susa K, Takahashi N, Nakano Y, Ando F, Mandai S, Mori T, Honda S, Torii S, Shimizu S, Rai T, Uchida S, Sohara E. ULK1-Regulated AMP Sensing Mechanism by AMPK Is Disrupted in CKD. ASN Kidney Week 2022 2022.11 Orland

10. Suzuki S, Ando F, Hara Y, Fujiki T, Mandai S, Susa K, Mori T, Sohara E, Rai T, Uchida S. ZNF185 Prevents Stress Fiber Formation Through the Inhibition of RhoA in Endothelial Cells. ASN Kidney Week 2022 2022.11

11. Kanamori T, Udagawa T, Murakoshi M, Adachi E, Okutsu M, Mori T, Sohara E, Uchida S. A Missense Mutation in Zinc Finger 4 of WT1 Might Lead to Focal Segmental Glomerular Sclerosis due to Its Mislocalization and Downstream Dysregulation. ASN Kidney Week 2022 2022.11 Orland

12. Shimohata Homare, Miyake Yusuke, Yoshida Yu, Usui Joichi, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Hirayama Kouichi, Kobayashi Masaki. 電顕所見でミエリン像を認めたLMX1B関連腎症(LMX1B-associated nephropathy that showed myelin figures on electron microscopy). CEN Case Reports 2021.11.01

13. Nanamatsu A, Mori T, Ando F, Furusho T, Mandai S, Susa K, Sohara E, Rai T, Uchida S. Vasopressin induces urinary uromodulin secretion by activating protein kinase A. ASN Kidney Week 2021 2021.11 San Diego/web

14. Oe Yuji, Mishima Eikan, Mori Takayasu, Okamoto Koji, Honkura Yohei, Nagasawa Tasuku, Yoshida Mai, Sato Hiroshi, Suzuki Jun, Ikeda Ryoukichi, Sohara Eisei, Uchida Shinichi, Katori Yukio, Miyazaki Mariko. LMX1Bの新規変異(p.Pro219Ala)はアルポート症候群様表現型の巣状分節性糸球体硬化症を引き起こす(A Novel Mutation in LMX1B(p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype). Internal Medicine 2021.09.01

15. Mandai Shintaro, Ando Fumiaki, Mori Takayasu, Susa Koichiro, Iimori Soichiro, Naito Shotaro, Sohara Eisei, Uchida Shinichi, Fushimi Kiyohide, Rai Tatemitsu. 腎臓病に関する入院理由と死因の不一致がもたらす負荷　日本人成人に関する全国調査(Burden of Kidney Disease on Discrepancy between Reasons for Admission and Death:A Nationwide Cohort Study of Japanese Adults). 日本腎臓学会誌 2021.06.01

16. Takahashi Naohiro, Kikuchi Hiroaki, Usui Ayaka, Furusho Taisuke, Fujimaru Takuya, Fujiki Tamami, Yanagi Tomoki, Matsuura Yoshiaki, Asano Kenichi, Yamamoto Kouhei, Ando Fumiaki, Susa Koichiro, Mandai Shintaro, Mori Takayasu, Rai Tatemitsu, Uchida Shinichi, Arita Makoto, Sohara Eisei. ALOX15の欠損は腎臓でのPGD2の増加により腎機能障害を改善し線維化を抑制する(Deletion of Alox15 improves kidney dysfunction and inhibits fibrosis by increased PGD2 in the kidney). Clinical and Experimental Nephrology 2021.05.01

17. Iijima Takashi, Mori Takayasu, Sohara Eisei, Suwabe Tatsuya, Hoshino Junichi, Ubara Yoshifumi. 血液透析下で持続性多渇症を呈したAVPR2変異による先天性腎性尿崩症の1例(A patient with congenital nephrogenic diabetes insipidus due to AVPR2 mutation complicated by persisting polydipsia under hemodialysis treatment). CEN Case Reports 2021.05.01

18. Takedani Kai, Notsu Masakazu, Koike Sayo, Yamauchi Mika, Mori Takayasu, Sohara Eisei, Yamauchi Asuka, Yoshikane Kaori, Ito Takafumi, Kanasaki Keizo. ビタミンD欠損症を伴った非定型腎尿細管性アシドーシスによる骨軟化症　症例報告(Osteomalacia caused by atypical renal tubular acidosis with vitamin D deficiency: a case report). CEN Case Reports 2021.05.01

19. Umene Ryusuke, Kitamura Mineaki, Arai Hideyuki, Matsumura Kazuki, Ishimaru Yuka, Maeda Kanenori, Uramatsu Tadashi, Obata Yoko, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Nishino Tomoya. 腎機能障害により悪化した2遺伝子性の塩類喪失性尿細管機能異常症を呈したBartter症候群(Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency). CEN Case Reports 2020.11.01

20. Mishima Eikan, Mori Takayasu, Nakajima Yoko, Toyohara Takafumi, Kikuchi Koichi, Oikawa Yoshitsugu, Matsuhashi Tetsuro, Maeda Yasuhiro, Suzuki Takehiro, Kudo Masataka, Ito Sadayoshi, Sohara Eisei, Uchida Shinichi, Abe Takaaki. 家族性若年性痛風を呈したHPRT1の新規p.V35M変異を伴うHPRT関連高尿酸血症(HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout). CEN Case Reports 2020.08.01

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

41. Mori T, Eriko K, Sohara E, Rai T, Sasaki S, Uchida S.. Chemical library screening for WNK signaling inhibitors by using fluorescent correlation spectroscopy.. The 46th Annual Meeting of American Society of Nephrology, Atlanta 2013.11.01

42. Wakabayashi M, Mori T (co-first), Isobe K, Sohara E, Susa K, Araki Y, Chiga M, Kikuchi E, Nomura N, Mori Y, Matsuo H, Murata T, Nomura S, Asano T, Kawaguchi H, Nonoyama S, Rai T, Sasaki S, Uchida S.. Impaired KLHL3-Mediated Ubiquitination of WNK4 Activates OSR1 and SPAK Kinases-NaCl Cotransporter (NCC) Signaling and Causes Hypertension.. The 46th Annual Meeting of American Society of Nephrology, Atlanta 2013.11.01

43. Mori T, Sohara E, Rai T, Sasaki S, Uchida S.. Generation and analysis of WT-WNK4 transgenic mice revealed the physiological role of WNK4. The 45th Annual Meeting of American Society of Nephrology, San Diego. The 45th Annual Meeting of American Society of Nephrology, San Diego 2012.11.01

44. Mori T, Ohta A, Sohara E, Rai T, Sasaki S, Uchida S.. High throughput screening of drugs that inhibit WNK-OSR1/SPAK signaling cascade.. The 44th Annual Meeting of American Society of Nephrology, Philadelphia 2011.11.01 Philadelphia