講演・口頭発表等 - 森　崇寧

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