論文・総説 - 森 崇寧

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  1. Jolitz L, Helbig I, Fitzgerald MP, McKeown Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen HG, Cuppen I, Christodoulou J, Wilson M, Lake NJ, Biskup S, Syrbe S, Mori T, Becker LL, Kaindl AM. Phenotype Spectrum of TRPM3-Associated Disorders. Annals of neurology. 2025.01; ( PubMed, DOI )

  2. Mori M, Mori Y, Nakao Y, Mandai S, Fujiki T, Kikuchi H, Ando F, Susa K, Mori T, Waseda Y, Yoshida S, Fujii Y, Sohara E, Uchida S. Development of Adult Renal Tubular Organoids from Different Human Individuals in a Single Medium. JMA journal. 2025.01; 8 (1): 191-197. ( PubMed, DOI )

  3. Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Takefumi Suzuki, Motoko Chiga, Akinari Sekine, Yoshifumi Ubara, Danny E Miller, Miranda P G Zalusky, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Hiroaki Kikuchi, Koichiro Susa, , Jessica X Chong, Michael J Bamshad, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara. CFAP47 is Implicated in X-Linked Polycystic Kidney Disease. Kidney Int Rep. 2024.12; 9 (12): 3580-3591. ( PubMed, DOI )

  4. Nagaoka K, Suemitsu T, Kawai K, Suzuki T, Mori T, Tajima A, Suzuki M, Ohara M. Gitelman syndrome and in vitro fertilization-embryo transfer: advancing preconception care in nephrology. CEN case reports. 2024.12; 13 (6): 484-488. ( PubMed, DOI )

  5. Yanagi T, Kikuchi H, Takeuchi K, Susa K, Mori T, Chiga M, Yamamoto K, Furukawa A, Kanazawa T, Kato Y, Takahashi N, Suzuki T, Mori Y, Carter BC, Mori M, Nakano Y, Fujiki T, Hara Y, Suzuki S, Ando F, Mandai S, Honda S, Torii S, Shimizu S, Tanaka H, Fujii Y, Rai T, Uchida S, Sohara E. ULK1-regulated AMP sensing by AMPK and its application for the treatment of chronic kidney disease. Kidney international. 2024.11; 106 (5): 887-906. ( PubMed, DOI )

  6. Morimoto N, Shioji S, Akagi Y, Fujiki T, Mandai S, Ando F, Mori T, Susa K, Naito S, Sohara E, Anzai T, Takahashi K, Akita W, Ohta A, Uchida S, Iimori S. Associations Between Dietary Potassium Intake From Different Food Sources and Hyperkalemia in Patients With Chronic Kidney Disease. Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney Foundation. 2024.11; 34 (6): 519-529. ( PubMed, DOI )

  7. Tanaka H, Fukawa Y, Yamamoto K, Tanimoto K, Takemoto A, Mori T, Hasumi H, Kinoshita M, Kanazawa T, Furukawa A, Kimura K, Sato H, Hirakawa A, Fukuda S, Waseda Y, Yoshida S, Campbell SC, Fujii Y. Prognostic Impact and Genomic Backgrounds of Renal Parenchymal Infiltration or Micronodular Spread in Nonmetastatic Clear Cell Renal Cell Carcinoma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 2024.11; 37 (11): 100590. ( PubMed, DOI )

  8. 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, Hanazawa R, Hirakawa A, Mochizuki T, Suwabe T, Ubara Y, Uchida S, Sohara E. Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History. Kidney international reports. 2024.09; 9 (9): 2685-2694. ( PubMed, DOI )

  9. Nakano Y, Mandai S, Takahashi D, Ikenouchi K, Mori Y, Ando F, Susa K, Mori T, Iimori S, Naito S, Sohara E, Fushimi K, Uchida S. Sex disparities in the risk of urgent dialysis following acute aortic dissections in Japan. iScience. 2024.08; 27 (8): 110577. ( PubMed, DOI )

  10. Hara M, Mandai S, Mori T, Maejima Y, Uchida S. Takayasu arteritis manifesting as acute kidney injury and congestion due to renal artery stenosis and myocarditis: a case report. European heart journal. Case reports. 2024.08; 8 (8): ytae347. ( PubMed, DOI )

  11. Hiroki Nobayashi, Tomomichi Iida, Takuya Fujimaru, Takayasu Mori, Yumi Ito, Hiroyuki Ueda, Eisei Sohara, Shinichi Uchida, Ryuji Aoyagi, Takashi Yokoo. Autosomal-dominant tubulointerstitial kidney disease with a novel UMOD mutation, overlapping with Sjogren's syndrome: a case report. CEN Case Rep. 2024.07; ( PubMed, DOI )

  12. Takuya Fujimaru, Takayasu Mori, Motoko Chiga, Shintaro Mandai, Hiroaki Kikuchi, Fumiaki Ando, Yutaro Mori, Koichiro Susa, Yuta Nakano, Takao Shoji, Yuichiro Fukudome, Naoto Inaba, Kenichiro Kitamura, Taichi Nakanishi, Keiko Uchida, Toshihiro Kimura, Teiichi Tamura, Kiyoshi Ozawa, Shinichi Uchida, Eisei Sohara. Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology. Kidney Int Rep. 2024.04; 9 (4): 994-1004. ( PubMed, DOI )

  13. Ikenouchi K, Takahashi D, Mandai S, Watada M, Koyama S, Hoshino M, Takahashi N, Shoda W, Kuyama T, Mori Y, Ando F, Susa K, Mori T, Iimori S, Naito S, Sohara E, Fushimi K, Uchida S. Impact of COVID-19 versus other pneumonia on in-hospital mortality and functional decline among Japanese dialysis patients: a retrospective cohort study. Scientific reports. 2024.03; 14 (1): 5177. ( PubMed, DOI )

  14. Yanagawa H, Hara Y, Ando F, Suzuki S, Fujiki T, Oikawa D, Yui N, Mandai S, Mori Y, Susa K, Mori T, Sohara E, Tokunaga F, Uchida S. LRBA signalosomes activate vasopressin-induced AQP2 trafficking at recycling endosomes. The Journal of physiology. 2023.12; 601 (23): 5437-5451. ( PubMed, DOI )

  15. Hisazumi Matsuki, Shintaro Mandai*, Hiroki Shiwaku, Takaaki Koide, Naohiro Takahashi, Tomoki Yanagi, Shunsuke Inaba, Saaya Ida, Tamami Fujiki, Yutaro Mori, Fumiaki Ando, Takayasu Mori, Koichiro Susa, Soichiro Iimori, Eisei Sohara, Hidehiko Takahashi, Shinichi Uchida. Chronic kidney disease causes blood-brain barrier breakdown via urea-activated matrix metalloproteinase-2 and insolubility of tau protein. Aging (Albany NY). 2023.10; 15 ( PubMed, DOI )

  16. Hisazumi Matsuki, Taku Genma, Shintaro Mandai*, Tamami Fujiki, Yutaro Mori, Fumiaki Ando, Takayasu Mori, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Eisei Sohara, Tatemitsu Rai, Kiyohide Fushimi, Shinichi Uchida. National Trends in Mortality and Urgent Dialysis after Acute Hypertension in Japan From 2010 Through 2019. Hypertension. 2023.10; ( PubMed, DOI )

  17. Shintaro Mandai, Takaaki Koide, Tamami Fujiki, Yutaro Mori, Fumiaki Ando, Koichiro Susa, Takayasu Mori, Soichiro Iimori, Shotaro Naito, Eisei Sohara, Shinichi Uchida, Kiyohide Fushimi, Tatemitsu Rai. Association of Admission Functional Status and Body Mass Index with Mortality in Patients Receiving Chronic Dialysis: A Nationwide Observational Cohort Study. JMA J. 2023.10; 6 (4): 404-413. ( PubMed, DOI )

  18. Madoka Kondo, Takayasu Mori, Tadashi Oshita, Atsuki Ohashi, Eisei Sohara, Shinichi Uchida, Yoshitaka Maeda. Case of hereditary kidney disease presenting thin basement membrane with a single heterozygous variant of Intersectin 2. J Rural Med. 2023.04; 18 (2): 143-148. ( PubMed, DOI )

  19. Nobuhisa Morimoto, Takayasu Mori, Shingo Shioji, Towako Taguchi, Hatsumi Watanabe, Keigo Sakai, Katsuo Mori, Ayumi Yamamura, Asami Hanioka, Yuichiro Akagi, Tamami Fujiki, Shintaro Mandai, Yutaro Mori, Fumiaki Ando, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Eisei Sohara, Kenichi Ohashi, Shinichi Uchida. Rapidly progressive IgA nephropathy with membranoproliferative glomerulonephritis-like lesions in an elderly man following the third dose of an mRNA COVID-19 vaccine: a case report. BMC Nephrol. 2023.04; 24 (1): 108. ( PubMed, DOI )

  20. Nobuhisa Morimoto, Takayasu Mori, Shingo Shioji, Hatsumi Watanabe, Keigo Sakai, Katsuo Mori, Ayumi Yamamura, Asami Hanioka, Yuichiro Akagi, Tamami Fujiki, Shintaro Mandai, Yutaro Mori, Fumiaki Ando, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Eisei Sohara, Shinichi Uchida. Thrombocytopenia during avacopan administration: A case report. Int J Rheum Dis. 2023.03; 26 (8): 1603-1607. ( PubMed, DOI )

  21. Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani, Maki Gau, Ryosei Iemura, Haruki Yamano, Toru Kanamori, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kentaro Okamoto, Tomohiro Udagawa, Kei Takasawa, Tomohiro Morio, Kenichi Kashimada. Phenotypic Variation in 46,XX Disorders of Sex Development due to the 4th Zinc Finger Domain Variant of WT1 : A Familial Case Report. Sex Dev. 2023.02; ( PubMed, DOI )

  22. Takaaki Koide, Shintaro Mandai, Reo Kitaoka, Hisazumi Matsuki, Motoko Chiga, Kouhei Yamamoto, Kotaro Yoshioka, Yohsuke Yagi, Soichiro Suzuki, Tamami Fujiki, Fumiaki Ando, Takayasu Mori, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Eisei Sohara, Tatemitsu Rai, Takanori Yokota, Shinichi Uchida. Circulating Extracellular Vesicle-Propagated microRNA Signature as a Vascular Calcification Factor in Chronic Kidney Disease. Circ Res. 2023.02; 132 (4): 415-431. ( PubMed, DOI )

  23. Yanagi T, Kikuchi H, Susa K, Takahashi N, Bamba H, Suzuki T, Nakano Y, Fujiki T, Mori Y, Ando F, Mandai S, Mori T, Takeuchi K, Honda S, Torii S, Shimizu S, Rai T, Uchida S, Sohara E. Absence of ULK1 decreases AMPK activity in the kidney, leading to chronic kidney disease progression. Genes to cells : devoted to molecular & cellular mechanisms. 2023.01; 28 (1): 5-14. ( PubMed, DOI )

  24. Soichiro Suzuki, Fumiaki Ando, Sae Kitagawa, Yu Hara, Tamami Fujiki, Shintaro Mandai, Koichiro Susa, Takayasu Mori, Eisei Sohara, Tatemitsu Rai, Shinichi Uchida. ZNF185 prevents stress fiber formation through the inhibition of RhoA in endothelial cells. Commun Biol. 2023.01; 6 (1): 29. ( PubMed, DOI )

  25. Hatano M, Udagawa T, Kanamori T, Sutani A, Mori T, Sohara E, Uchida S, Morio T, Nishioka M. A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria. Human genome variation. 2022.12; 9 (1): 42. ( PubMed, DOI )

  26. Nakano Y, Mandai S, Genma T, Akagi Y, Fujiki T, Ando F, Susa K, Mori T, Iimori S, Naito S, Sohara E, Uchida S, Fushimi K, Rai T. Nationwide mortality associated with perioperative acute dialysis requirement in major surgeries. International journal of surgery (London, England). 2022.08; 104 106816. ( PubMed, DOI )

  27. Hara Y, Ando F, Oikawa D, Ichimura K, Yanagawa H, Sakamaki Y, Nanamatsu A, Fujiki T, Mori S, Suzuki S, Yui N, Mandai S, Susa K, Mori T, Sohara E, Rai T, Takahashi M, Sasaki S, Kagechika H, Tokunaga F, Uchida S. LRBA is essential for urinary concentration and body water homeostasis. Proceedings of the National Academy of Sciences of the United States of America. 2022.07; 119 (30): e2202125119. ( PubMed, DOI )

  28. Oki Y, Katsuma A, Okabe M, Watanabe M, Sagasaki M, Takahashi D, Kimura A, Kato J, Ueda H, Hataya H, Fujimaru T, Mori T, Sohara E, Uchida S, Miyazaki Y, Yokoo T. Different Clinical Courses of Nephronophthisis in Dizygotic Twins. Internal medicine (Tokyo, Japan). 2022.06; 62 (1): 87-90. ( PubMed, DOI )

  29. Iio K, Mori T, Bessho S, Imai Y, Hatanaka M, Omori H, Kouhara H, Chiga M, Sohara E, Uchida S, Kaimori JY. Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus. CEN case reports. 2022.05; 11 (2): 191-195. ( PubMed, DOI )

  30. Kobayashi Satoru, Mizuno Nana, Yokoi Kyoko, Mori Takayasu, Sohara Eisei, Uchida Shinichi. Congenital nephrogenic diabetes insipidus presenting as osmotic demyelination syndrome in infancy A case report MEDICINE. 2022.01; 101 (3): e28552. ( PubMed, DOI )

  31. Uchida S, Mori T, Susa K, Sohara E. NCC regulation by WNK signal cascade. Frontiers in physiology. 2022; 13 1081261. ( PubMed, DOI )

  32. Ishida A, Mizuno H, Aoyama K, Sasaki S, Negishi Y, Arakawa T, Mori T. Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2022; 31 (1): 44-49. ( PubMed, DOI )

  33. Morimoto Nobuhisa, Nagahama Kiyotaka, Mori Takayasu, Fujimaru Takuya, Tsuura Yukio, Terai Ayumi, Tanabe Madoka, Otani Megumi, Shioji Shingo, Hirasawa Suguru, Aki Shota, Aoyagi Makoto, Sohara Eisei, Uchida Shinichi, Tanaka Hiroyuki. A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane NEPHRON. 2021.11; 145 (6): 776-782. ( PubMed, DOI )

  34. Mandai Shintaro, Ando Fumiaki, Mori Takayasu, Susa Koichiro, Iimori Soichiro, Naito Shotaro, Sohara Eisei, Uchida Shinichi, Fushimi Kiyohide, Rai Tatemitsu. Burden of kidney disease on the discrepancy between reasons for hospital admission and death: An observational cohort study PLOS ONE. 2021.11; 16 (11): e0258846. ( PubMed, DOI )

  35. Fujii Shinya, Kikuchi Eriko, Suzuyama Honoka, Watanabe Yuko, Ishigami-Yuasa Mari, Masuno Hiroyuki, Mori Takayasu, Isobe Kiyoshi, Uchida Shinichi, Kagechika Hiroyuki. Structural Development of Salicylanilide-Based SPAK Inhibitors as Candidate Antihypertensive Agents CHEMMEDCHEM. 2021.07; 16 (18): 2817-2822. ( PubMed, DOI )

  36. Shimohata H, Miyake Y, Yoshida Y, Usui J, Mori T, Sohara E, Uchida S, Hirayama K, Kobayashi M. LMX1B-associated nephropathy that showed myelin figures on electron microscopy. CEN case reports. 2021.06; 10 (4): 588-591. ( PubMed, DOI )

  37. Nanamatsu Azuma, Mori Takayasu, Ando Fumiaki, Furusho Taisuke, Mandai Shintaro, Susa Koichiro, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi. Vasopressin Induces Urinary Uromodulin Secretion By Activating PKA (Protein Kinase A) HYPERTENSION. 2021.06; 77 (6): 1953-1963. ( PubMed, DOI )

  38. Kandhaya-Pillai Renuka, Hou Deyin, Zhang Jiaming, Yang Xiaomeng, Compoginis Goli, Mori Takayasu, Tchkonia Tamara, Martin George M., Hisama Fuki M., Kirkland James L., Oshima Junko. SMAD4 mutations and cross-talk between TGF-beta/IFN gamma signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome GEROSCIENCE. 2021.06; 43 (3): 1481-1496. ( PubMed, DOI )

  39. 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. Deletion of Alox15 improves kidney dysfunction and inhibits fibrosis by increased PGD(2) in the kidney CLINICAL AND EXPERIMENTAL NEPHROLOGY. 2021.05; 25 (5): 445-455. ( PubMed, DOI )

  40. Takedani K, Notsu M, Koike S, Yamauchi M, Mori T, Sohara E, Yamauchi A, Yoshikane K, Ito T, Kanasaki K. Osteomalacia caused by atypical renal tubular acidosis with vitamin D deficiency: a case report. CEN case reports. 2021.05; 10 (2): 294-300. ( PubMed, DOI )

  41. Fujimaru T, Kawanishi K, Mori T, Mishima E, Sekine A, Chiga M, Mizui M, Sato N, Yanagita M, Ooki Y, Nagahama K, Ohnuki Y, Hamano N, Watanabe S, Mochizuki T, Nagatsuji K, Tanaka K, Tsukamoto T, Tsushima H, Shimamoto M, Tsuji T, Kuyama T, Kawamoto S, Maki K, Katsuma A, Oishi M, Yamamoto K, Mandai S, Kikuchi H, Ando F, Mori Y, Susa K, Iimori S, Naito S, Rai T, Hoshino J, Ubara Y, Miyazaki M, Nagata M, Uchida S, Sohara E. Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis. Kidney international reports. 2021.05; 6 (5): 1346-1354. ( PubMed, DOI )

  42. Oe Y, Mishima E, Mori T, Okamoto K, Honkura Y, Nagasawa T, Yoshida M, Sato H, Suzuki J, Ikeda R, Sohara E, Uchida S, Katori Y, Miyazaki M. A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype. Internal medicine (Tokyo, Japan). 2021.04; 60 (18): 2991-2996. ( PubMed, DOI )

  43. Mori Takehiko, Saburi Masuho, Hagihara Maki, Mori Masaaki, Yamazaki Rie, Kato Jun. Long-term remission of cryopyrin-associated periodic syndrome after allogeneic haematopoietic stem cell transplantation ANNALS OF THE RHEUMATIC DISEASES. 2021.04; 80 (4): 542-+. ( DOI )

  44. Ota Yoshihide, Noguchi Tadahide, Ariji Eiichiro, Fushimi Chihiro, Fuwa Nobukazu, Harada Hiroyuki, Hayashi Takafumi, Hayashi Ryuichi, Honma Yoshitaka, Miura Masahiko, Mori Taisuke, Nagatsuka Hitoshi, Okura Masaya, Ueda Michihiro, Uzawa Narikazu, Yagihara Kazuhiro, Yagishita Hisao, Yamashiro Masashi, Yanamoto Souichi, Kirita Tadaaki. General rules for clinical and pathological studies on oral cancer (2nd edition): a synopsis INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY. 2021.04; 26 (4): 623-635. ( DOI )

  45. Tao K, Awazu M, Honda M, Shibata H, Mori T, Uchida S, Hasegawa T, Ishii T. An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia. Endocrinology, diabetes & metabolism case reports. 2021.04; 2021 ( PubMed, DOI )

  46. Onoe Tamehito, Hara Satoshi, Yamada Kazunori, Zoshima Takeshi, Mizushima Ichiro, Ito Kiyoaki, Mori Takayasu, Daimon Shoichiro, Muramoto Hiroaki, Shimizu Maki, Iguchi Akira, Kuma Akihiro, Ubara Yoshifumi, Mitobe Michihiro, Tsuruta Hiroaki, Kishimoto Nao, Imura Junko, Konoshita Tadashi, Kawano Mitsuhiro. Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific? BMC NEPHROLOGY. 2021.01; 22 (1): 1. ( PubMed, DOI )

  47. Yohei Arai, Kenichi Asano, Shintaro Mandai, Fumiaki Ando, Koichiro Susa, Takayasu Mori, Naohiro Nomura, Tatemitsu Rai, Masato Tanaka, Shinichi Uchida, Eisei Sohara. WNK1-TAK1 signaling suppresses lipopolysaccharide-induced cytokine production and classical activation in macrophages. Biochem Biophys Res Commun. 2020.12; 533 (4): 1290-1297. ( PubMed, DOI )

  48. Takayasu Mori, Motoko Chiga, Takuya Fujimaru, Ryosuke Kawamoto, Shintaro Mandai, Azuma Nanamatsu, Naohiro Nomura, Fumiaki Ando, Koichiro Susa, Eisei Sohara, Tatemitsu Rai, Shinichi Uchida. Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood. Hum Mutat. 2020.12; ( PubMed, DOI )

  49. Fukano Reiji, Mori Tetsuya, Sekimizu Masahiro, Choi Ilseung, Kada Akiko, Saito Akiko Moriya, Asada Ryuta, Takeuchi Kengo, Terauchi Takashi, Tateishi Ukihide, Horibe Keizo, Nagai Hirokazu. Alectinib for relapsed or refractory anaplastic lymphoma kinase-positive anaplastic large cell lymphoma: An open-label phase II trial CANCER SCIENCE. 2020.12; 111 (12): 4540-4547. ( DOI )

  50. Shirai Ryota, Osumi Tomoo, Mori Takeshi, Kohri Mika, Ishihara Takashi, Yasue Shiho, Imamura Toshihiko, Endo Mikiya, Takagi Masatoshi, Kato Motohiro. Genomic Analysis of B-Lymphoblastic Lymphoma with TCF3-PBX1 PEDIATRIC BLOOD & CANCER. 2020.12; 67

  51. Takashi Iijima, Takayasu Mori, Eisei Sohara, Tatsuya Suwabe, Junichi Hoshino, Yoshifumi Ubara. A patient with congenital nephrogenic diabetes insipidus due to AVPR2 mutation complicated by persisting polydipsia under hemodialysis treatment. CEN Case Rep. 2020.10; ( PubMed, DOI )

  52. Fujii Shinya, Kikuchi Eriko, Watanabe Yuko, Suzuyama Honoka, Ishigami-Yuasa Mari, Mori Takayasu, Isobe Kiyoshi, Uchida Shinichi, Kagechika Hiroyuki. Structural development of N-(4-phenoxyphenyl)benzamide derivatives as novel SPAK inhibitors blocking WNK kinase signaling BIOORGANIC & MEDICINAL CHEMISTRY LETTERS. 2020.09; 30 (17): 127408. ( PubMed, DOI )

  53. Nakano Kiyoshi, Kubota Yasuo, Mori Takayuki, Chiga Motoko, Mori Takayasu, Sonoda Shyunya, Ueda Daisuke, Asakura Isao, Ikegaya Takeshi, Kagawa Jiro, Uchida Shinichi, Kubota Akira. Familial cases of pseudohypoaldosteronism typeIIharboring a novel mutation in theCullin 3gene NEPHROLOGY. 2020.08; 25 (11): e13752-821. ( PubMed, DOI )

  54. Mishima E, Mori T, Nakajima Y, Toyohara T, Kikuchi K, Oikawa Y, Matsuhashi T, Maeda Y, Suzuki T, Kudo M, Ito S, Sohara E, Uchida S, Abe T. HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout. CEN case reports. 2020.08; 9 (3): 210-214. ( PubMed, DOI )

  55. Sekine A, Hoshino J, Fujimaru T, Suwabe T, Mizuno H, Kawada M, Hiramatsu R, Hasegawa E, Yamanouchi M, Hayami N, Mandai S, Chiga M, Kikuchi H, Ando F, Mori T, Sohara E, Uchida S, Sawa N, Takaichi K, Ubara Y. Genetics May Predict Effectiveness of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease. American journal of nephrology. 2020.08; 51 (9): 1-7. ( PubMed, DOI )

  56. Murata Yoichi, Uchida Soshi, Utsunomiya Hajime, Hatakeyama Akihisa, Nakashima Hirotaka, Mori Toshiharu, Yamanaka Yoshiaki, Tsukamoto Manabu, Sekiya Ichiro, Huard Johnny, Philippon Marc J., Sakai Akinori. Differentiation Potential of Synovial Mesenchymal Stem Cells Isolated From Hip Joints Affected by Femoroacetabular Impingement Syndrome Versus Osteoarthritis ARTHROSCOPY-THE JOURNAL OF ARTHROSCOPIC AND RELATED SURGERY. 2020.08; 36 (8): 2122-2133. ( DOI )

  57. Tsuji Kiyokazu, Kitamura Mineaki, Muta Kumiko, Mochizuki Yasushi, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Sakai Hideki, Mukae Hiroshi, Nishino Tomoya. Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report BMC NEPHROLOGY. 2020.07; 21 (1): 282. ( PubMed, DOI )

  58. Moena Ishikawa, Yumi Tada, Hiromu Tanaka, Wataru Morii, Masako Inaba, Hidetoshi Takada, Takayasu Mori, Emiko Noguchi. A Family with Gitelman Syndrome with Asymptomatic Phenotypes while Carrying Reported SLC12A3 Mutations. Case Rep Nephrol Dial. 2020.07; 10 (2): 71-78. ( PubMed, DOI )

  59. Shigemizu Daichi, Mori Taiki, Akiyama Shintaro, Higaki Sayuri, Watanabe Hiroshi, Sakurai Takashi, Niida Shumpei, Ozaki Kouichi. Identification of potential blood biomarkers for early diagnosis of Alzheimer's disease through RNA sequencing analysis ALZHEIMERS RESEARCH & THERAPY. 2020.07; 12 (1): ( DOI )

  60. Shoda Wakana, Nomura Naohiro, Ando Fumiaki, Tagashira Hideaki, Iwamoto Takahiro, Ohta Akihito, Isobe Kiyoshi, Mori Takayasu, Susa Koichiro, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi. Sodium-calcium exchanger 1 is the key molecule for urinary potassium excretion against acute hyperkalemia PLOS ONE. 2020.06; 15 (6): e0235360. ( PubMed, DOI )

  61. Umene R, Kitamura M, Arai H, Matsumura K, Ishimaru Y, Maeda K, Uramatsu T, Obata Y, Mori T, Sohara E, Uchida S, Nishino T. Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency. CEN case reports. 2020.06; 9 (4): 375-379. ( PubMed, DOI )

  62. Furusho Taisuke, Sohara Eisei, Mandai Shintaro, Kikuchi Hiroaki, Takahashi Naohiro, Fujimaru Takuya, Hashimoto Hiroko, Arai Yohei, Ando Fumiaki, Zeniya Moko, Mori Takayasu, Susa Koichiro, Isobe Kiyoshi, Nomura Naohiro, Yamamoto Kohei, Okado Tomokazu, Rai Tatemitsu, Uchida Shinichi. Renal TNF alpha activates the WNK phosphorylation cascade and contributes to salt-sensitive hypertension in chronic kidney disease KIDNEY INTERNATIONAL. 2020.04; 97 (4): 713-727. ( PubMed, DOI )

  63. Mori Tetsuya, Sekimizu Masahiro, Fukano Reiji, Choi Ilseung, Takeuchi Kengo, Tateishi Ukihide, Terauchi Takashi, Kada Akiko, Saito Akiko, Asada Ryuta, Horibe Keizo, Nagai Hirokazu. Alectinib in Children with Recurrent or Refractory ALK-positive ALCL: Phase 2 Trial in Both Children and Adults PEDIATRIC BLOOD & CANCER. 2019.12; 66 S12-S13.

  64. Ikeda Takashi, Mori Keita, Kawamura Koji, Mori Takehiko, Hagiwara Shotaro, Ueda Yasunori, Kahata Kaoru, Uchida Naoyuki, Tsukada Nobuhiro, Murakami Satoshi, Yamamoto Masahide, Takahashi Tsutomu, Ichinohe Tatsuo, Onizuka Makoto, Atsuta Yoshiko, Kanda Yoshinobu, Okamoto Shinichiro, Sunami Kazutaka, Takamatsu Hiroyuki. Comparison between autologous and allogeneic stem cell transplantation as salvage therapy for multiple myeloma relapsing/progressing after autologous stem cell transplantation HEMATOLOGICAL ONCOLOGY. 2019.12; 37 (5): 586-594. ( DOI )

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  70. Sakoh Takashi, Sekine Akinari, Mori Takayasu, Mizuno Hiroki, Kawada Masahiro, Hiramatsu Rikako, Hasegawa Eiko, Hayami Noriko, Yamanouchi Masayuki, Suwabe Tatsuya, Sawa Naoki, Ubara Yoshifumi, Fujimaru Takuya, Sohara Eisei, Shinichi Uchida, Hoshino Junichi, Takaichi Kenmei. A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4 MOLECULAR GENETICS & GENOMIC MEDICINE. 2019.06; 7 (6): e705. ( PubMed, DOI )

  71. Ohkubo Atsushi, Okado Tomokazu, Sakurasawa Takatoshi, Maeda Takuma, Itagaki Ayako, Yamamoto Hiroko, Miyamoto Satoko, Seshima Hiroshi, Kurashima Naoki, Mori Takayasu, Iimori Soichiro, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi, Naito Shotaro. Removal Characteristics of Immunoadsorption with the Tryptophan-Immobilized Column Using Conventional and Selective Plasma Separators in the Treatment of Myasthenia Gravis THERAPEUTIC APHERESIS AND DIALYSIS. 2019.06; 23 (3): 271-278. ( PubMed, DOI )

  72. Fujiki Tamami, Ando Fumiaki, Murakami Kana, Isobe Kiyoshi, Mori Takayasu, Susa Koichiro, Nomura Naohiro, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi. Tolvaptan activates the Nrf2/HO-1 antioxidant pathway through PERK phosphorylation SCIENTIFIC REPORTS. 2019.06; 9 (1): 9245. ( PubMed, DOI )

  73. Ohkubo Atsushi, Okado Tomokazu, Sakurasawa Takatoshi, Maeda Takuma, Itagaki Ayako, Yamamoto Hiroko, Miyamoto Satoko, Seshima Hiroshi, Kurashima Naoki, Mori Takayasu, Iimori Soichiro, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi, Naito Shotaro. 重症筋無力症の治療における通常型および選択的血漿分離器を用いたトリプトファン固定化カラムによる免疫吸着の除去特性(Removal Characteristics of Immunoadsorption with the Tryptophan-Immobilized Column Using Conventional and Selective Plasma Separators in the Treatment of Myasthenia Gravis) Therapeutic Apheresis and Dialysis. 2019.06; 23 (3): 271-278. ( 医中誌 )

  74. Asanomi Yuya, Shigemizu Daichi, Miyashita Akinori, Mitsumori Risa, Mori Taiki, Hara Norikazu, Ito Kaoru, Niida Shumpei, Ikeuchi Takeshi, Ozaki Kouichi. A rare functional variant of SHARPIN attenuates the inflammatory response and associates with increased risk of late-onset Alzheimer's disease MOLECULAR MEDICINE. 2019.06; 25 ( DOI )

  75. Tanaka Tatsuhiko, Oki Eishin, Mori Takayasu, Tsuruga Kazushi, Sohara Eisei, Uchida Shinichi, Tanaka Hiroshi. COMPLETE CLINICAL RESOLUTION OF A JAPANESE FAMILY WITH RENAL PSEUDOHYPOALDOSTERONISM TYPE 1 DUE TO A NOVEL NR3C2 MUTATION NEPHROLOGY. 2019.04; 24 (4): 489-+. ( PubMed, DOI )

  76. Saki Watanabe, Jun Ino, Takuya Fujimaru, Sekiko Taneda, Taro Akihisa, Shiho Makabe, Hiroshi Kataoka, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kosaku Nitta, Toshio Mochizuki. PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion. Clin Case Rep. 2019.02; 7 (2): 336-339. ( PubMed, DOI )

  77. Kikuchi Hiroaki, Sasaki Emi, Nomura Naohiro, Mori Takayasu, Minamishima Yoji Andrew, Yoshizaki Yuki, Takahashi Naohiro, Furusho Taisuke, Arai Yohei, Mandai Shintaro, Yamashita Takahiro, Ando Fumiaki, Maejima Yasuhiro, Isobe Kiyoshi, Okado Tomokazu, Rai Tatemitsu, Uchida Shinichi, Sohara Eisei. Failure to sense energy depletion may be a novel therapeutic target in chronic kidney disease KIDNEY INTERNATIONAL. 2019.01; 95 (1): 123-137. ( PubMed, DOI )

  78. Mandai Shintaro, Sato Hidehiko, Iimori Soichiro, Naito Shotaro, Tanaka Haruna, Ando Fumiaki, Susa Koichiro, Isobe Kiyoshi, Mori Takayasu, Nomura Naohiro, Sohara Eisei, Okado Tomokazu, Uchida Shinichi, Fushimi Kiyohide, Rai Tatemitsu. Nationwide in-hospital mortality following major fractures among hemodialysis patients and the general population: An observational cohort BONE. 2019.01; 130 115122. ( PubMed, DOI )

  79. Sekine Akinari, Fujimaru Takuya, Hoshino Junichi, Suwabe Tatsuya, Oguro Masahiko, Mizuno Hiroki, Kawada Masahiro, Sumida Keiichi, Hiramatsu Rikako, Hasegawa Eiko, Yamanouchi Masayuki, Hayami Noriko, Mandai Shintaro, Chiga Motoko, Kikuchi Hiroaki, Ando Fumiaki, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Sawa Naoki, Takaichi Kenmei, Ubara Yoshifumi. Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History AMERICAN JOURNAL OF NEPHROLOGY. 2019; 49 (3): 233-240. ( PubMed, DOI )

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  81. Kikuchi Hiroaki, Kanda Eiichiro, Mori Takayasu, Sato Hidehiko, Iimori Soichiro, Nomura Naohiro, Naito Shotaro, Sohara Eisei, Okado Tomokazu, Uchida Shinichi, Fushimi Kiyohide, Rai Tatemitsu. Short-term prognosis of emergently hospitalized dialysis-independent chronic kidney disease patients: A nationwide retrospective cohort study in Japan PLOS ONE. 2018.11; 13 (11): e0208258. ( PubMed, DOI )

  82. Osumi Tomoo, Mori Takeshi, Ueyama Jun-Ichi, Fukano Reiji, Sekimizu Masahiro, Takagi Masatoshi, Yagasaki Hiroshi, Nishimura Ryosei, Ikeda Junji, Ogura Taemi, Fujimura Junya, Kobayashi Ryoji. Intrathecal or intraventricular infusion of rituximab for children with B-cell lymphoid malignancies and central nervous system disease BRITISH JOURNAL OF HAEMATOLOGY. 2018.09; 182 72.

  83. Ayumi Matsumoto, Isao Matsui, Takayasu Mori, Yusuke Sakaguchi, Masayuki Mizui, Yoshiyasu Ueda, Atsushi Takahashi, Yohei Doi, Karin Shimada, Satoshi Yamaguchi, Keiichi Kubota, Nobuhiro Hashimoto, Tatsufumi Oka, Yoshitsugu Takabatake, Eisei Sohara, Takayuki Hamano, Shinichi Uchida, Yoshitaka Isaka. A Case of Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the CLCN5 gene. Intern. Med.. 2018.08; 57 (24): 3603-3610. ( PubMed, DOI )

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  85. Takahashi Hiroyuki, Kajiwara Ryosuke, Kato Motohiro, Hasegawa Daisuke, Tomizawa Daisuke, Noguchi Yasushi, Koike Kazutoshi, Toyama Daisuke, Yabe Hiromasa, Kajiwara Michiko, Fujimura Junya, Sotomatsu Manabu, Ota Setsuo, Maeda Miho, Goto Hiroaki, Kato Yoko, Mori Tetsuya, Inukai Takeshi, Shimada Hiroyuki, Fukushima Keitaro, Ogawa Chitose, Makimoto Atsushi, Fukushima Takashi, Ohki Kentaro, Koh Katsuyoshi, Kiyokawa Nobutaka, Manabe Atsushi, Ohara Akira. Treatment outcome of children with acute lymphoblastic leukemia: the Tokyo Children's Cancer Study Group (TCCSG) Study L04-16 INTERNATIONAL JOURNAL OF HEMATOLOGY. 2018.07; 108 (1): 98-108. ( DOI )

  86. Satoko Miyamoto, Atsushi Ohkubo, Hiroshi Seshima, Hiroko Yamamoto, Ayako Itagaki, Takuma Maeda, Naoki Kurashima, Takayasu Mori, Soichiro Iimori, Shotaro Naito, Eisei Sohara, Tatemitsu Rai, Shinichi Uchida, Tomokazu Okado. Removal Dynamics of Autoantibodies, Immunoglobulins, and Coagulation Factors by Selective Plasma Exchange on Three Consecutive Days. Ther Apher Dial. 2018.06; 22 (3): 255-260. ( PubMed, DOI )

  87. Sayaka Yoshida, Yuya Araki, Takayasu Mori, Emi Sasaki, Yuri Kasagi, Kiyoshi Isobe, Koichiro Susa, Yuichi Inoue, Pascale Bomont, Tomokazu Okado, Tatemitsu Rai, Shinichi Uchida, Eisei Sohara. Decreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo. Clin. Exp. Nephrol.. 2018.06; 22 (6): 1251-1257. ( PubMed, DOI )

  88. Shintaro Mandai, Takayasu Mori, Naohiro Nomura, Taisuke Furusho, Yohei Arai, Hiroaki Kikuchi, Emi Sasaki, Eisei Sohara, Tatemitsu Rai, Shinichi Uchida. WNK1 regulates skeletal muscle cell hypertrophy by modulating the nuclear localization and transcriptional activity of FOXO4. Sci Rep. 2018.06; 8 (1): 9101. ( PubMed, DOI )

  89. Ogawa Nami, Mori Takashi, Fujishima Ichiro, Wakabayashi Hidetaka, Itoda Masataka, Kunieda Kenjiro, Shigematsu Takashi, Nishioka Shinta, Tohara Haruka, Yamada Minoru, Ogawa Sumito. Ultrasonography to Measure Swallowing Muscle Mass and Quality in Older Patients With Sarcopenic Dysphagia JOURNAL OF THE AMERICAN MEDICAL DIRECTORS ASSOCIATION. 2018.06; 19 (6): 516-522. ( DOI )

  90. Naoya Toriu, Hiroki Mizuno, Naoki Sawa, Keiichi Sumida, Tatsuya Suwabe, Noriko Hayami, Akinari Sekine, Masayuki Yamanouchi, Junichi Hoshino, Kenmei Takaichi, Motoko Yanagita, Takuya Fujimaru, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yoshifumi Ubara. Everolimus Reduces the Size of Tuberous Sclerosis Complex-Related Huge Renal Angiomyolipomas Exceeding 20 cm in the Longest Diameter. Case Rep Oncol. 2018.05; 11 (2): 258-267. ( PubMed, DOI )

  91. Takada Daisuke, Sekine Akinari, Yabuuchi Junko, Kogure Yuta, Ueno Toshiharu, Yamanouchi Masayuki, Sumida Keiichi, Suwabe Tatsuya, Hayami Noriko, Hoshino Junichi, Takaichi Kenmei, Kinowaki Keiichi, Fujii Takeshi, Ohashi Kenichi, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Ubara Yoshifumi. Renal histology and MRI in a 25-year-old Japanese man with nephronophthisis 4. Clin Nephrol. 2018.03; 89 (3): 223-228. ( PubMed, DOI )

  92. Hashimoto Hiroko, Nomura Naohiro, Shoda Wakana, Isobe Kiyoshi, Kikuchi Hiroaki, Yamamoto Kouhei, Fujimaru Takuya, Ando Fumiaki, Mori Takayasu, Okado Tomokazu, Rai Tatemitsu, Uchida Shinichi, Sohara Eisei. Metformin increases urinary sodium excretion by reducing phosphorylation of the sodium- chloride cotransporter. Metabolism. 2018.03; 85 23-31. ( PubMed, DOI )

  93. Shintaro Mandai, Hidehiko Sato, Soichiro Iimori, Shotaro Naito, Takayasu Mori, Daiei Takahashi, Moko Zeniya, Naohiro Nomura, Eisei Sohara, Tomokazu Okado, Shinichi Uchida, Kiyohide Fushimi, Tatemitsu Rai. Dialysis Case Volume Associated With In-Hospital Mortality in Maintenance Dialysis Patients. Kidney Int Rep. 2018.03; 3 (2): 356-363. ( PubMed, DOI )

  94. Miura Yuka, Nakagami Gojiro, Yabunaka Koichi, Tohara Haruka, Noguchi Hiroshi, Mori Taketoshi, Sanada Hiromi. A Randomized Controlled Trial to Investigate the Effectiveness of the Prevention of Aspiration Pneumonia Using Recommendations for Swallowing Care Guided by Ultrasound Examination HEALTHCARE. 2018.03; 6 (1): ( DOI )

  95. Mori Takayasu, Yousefzadeh Matthew J, Faridounnia Maryam, Chong Jessica X, Hisama Fuki M, Hudgins Louanne, Mercado Gabriela, Wade Erin A, Barghouthy Amira S, Lee Lin, Martin George M, Nickerson Deborah A, Bamshad Michael J, Niedernhofer Laura J, Oshima Junko, University of Washington Center for Mendelian Genomics. ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. Hum Mutat. 2018.02; 39 (2): 255-265. ( PubMed, DOI )

  96. Mishima Eikan, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Abe Takaaki, Ito Sadayoshi. Inherited, not acquired, Gitelman syndrome in a patient with Sjogren's syndrome: importance of genetic testing to distinguish the two forms. CEN Case Rep. 2017.11; 6 (2): 180-184. ( PubMed, DOI )

  97. Ito Yusuke, Sekine Akinari, Takada Daisuke, Yabuuchi Junko, Kogure Yuta, Ueno Toshiharu, Sumida Keiichi, Yamanouchi Masayuki, Hayami Noriko, Suwabe Tatsuya, Hoshino Junichi, Sawa Naoki, Takaichi Kenmei, Kinowaki Keiichi, Fujii Takeshi, Ohashi Kenichi, Kikuchi Hiroaki, Mandai Shintaro, Chiga Motoko, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Ubara Yoshifumi. Renal histology and MRI findings in a 37-year-old Japanese patient with autosomal recessive polycystic kidney disease. Clin Nephrol. 2017.11; 88 (11): 292-297. ( PubMed, DOI )

  98. Mishima Eikan, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Abe Takaaki, Ito Sadayoshi. シェーグレン症候群患者における後天性でなく遺伝性のGitelman症候群 遺伝形質の鑑別における遺伝子変異解析の重要性(Inherited, not acquired, Gitelman syndrome in a patient with Sjoegren's syndrome: importance of genetic testing to distinguish the two forms) CEN Case Reports. 2017.11; 6 (2): 180-184. ( 医中誌 )

  99. Zeniya Moko, Mori Takayasu, Yui Naofumi, Nomura Naohiro, Mandai Shintaro, Isobe Kiyoshi, Chiga Motoko, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi. The proteasome inhibitor bortezomib attenuates renal fibrosis in mice via the suppression of TGF-beta1. Sci Rep. 2017.10; 7 (1): 13086. ( PubMed, DOI )

  100. Nojima K., Namiki T., Funazumi M., Ishikawa M., Kaneko Y., Tanemura A., Katamaya I., Mori T., Yamazaki N., Yokozeki H., Hearing V.. NUAK2 over expressed and DNA copy number increased in acral melanoma: Its significance on the survival of patients JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2017.10; 137 (10): S296.

  101. Ishigami-Yuasa Mari, Watanabe Yuko, Mori Takayasu, Masuno Hiroyuki, Fujii Shinya, Kikuchi Eriko, Uchida Shinichi, Kagechika Hiroyuki. Development of WNK signaling inhibitors as a new class of antihypertensive drugs. Bioorg Med Chem. 2017.07; 25 (14): 3845-3852. ( PubMed, DOI )

  102. Yoshizaki Yuki, Mori Takayasu, Ishigami-Yuasa Mari, Kikuchi Eriko, Takahashi Daiei, Zeniya Moko, Nomura Naohiro, Mori Yutaro, Araki Yuya, Ando Fumiaki, Mandai Shintaro, Kasagi Yuri, Arai Yohei, Sasaki Emi, Yoshida Sayaka, Kagechika Hiroyuki, Rai Tatemitsu, Uchida Shinichi, Sohara Eisei. Drug-Repositioning Screening for Keap1-Nrf2 Binding Inhibitors using Fluorescence Correlation Spectroscopy. Sci Rep. 2017.06; 7 (1): 3945. ( PubMed, DOI )

  103. Kasagi Yuri, Takahashi Daiei, Aida Tomomi, Nishida Hidenori, Nomura Naohiro, Zeniya Moko, Mori Takayasu, Sasaki Emi, Ando Fumiaki, Rai Tatemitsu, Uchida Shinichi, Sohara Eisei. Impaired degradation of medullary WNK4 in the kidneys of KLHL2 knockout mice. Biochem Biophys Res Commun. 2017.05; 487 (2): 368-374. ( PubMed, DOI )

  104. Mandai Shintaro, Furukawa Susumu, Kodaka Manami, Hata Yutaka, Mori Takayasu, Nomura Naohiro, Ando Fumiaki, Mori Yutaro, Takahashi Daiei, Yoshizaki Yuki, Kasagi Yuri, Arai Yohei, Sasaki Emi, Yoshida Sayaka, Furuichi Yasuro, Fujii Nobuharu L, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi. Loop diuretics affect skeletal myoblast differentiation and exercise-induced muscle hypertrophy. Sci Rep. 2017.04; 7 46369. ( PubMed, DOI )

  105. Sasaki Emi, Susa Koichiro, Mori Takayasu, Isobe Kiyoshi, Araki Yuya, Inoue Yuichi, Yoshizaki Yuki, Ando Fumiaki, Mori Yutaro, Mandai Shintaro, Zeniya Moko, Takahashi Daiei, Nomura Naohiro, Rai Tatemitsu, Uchida Shinichi, Sohara Eisei. KLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3. Mol Cell Biol. 2017.04; 37 (7): ( PubMed, DOI )

  106. Takahashi Daiei, Mori Takayasu, Sohara Eisei, Tanaka Miyako, Chiga Motoko, Inoue Yuichi, Nomura Naohiro, Zeniya Moko, Ochi Hiroki, Takeda Shu, Suganami Takayoshi, Rai Tatemitsu, Uchida Shinichi. WNK4 is an Adipogenic Factor and Its Deletion Reduces Diet-Induced Obesity in Mice. EBioMedicine. 2017.04; 18 118-127. ( PubMed, DOI )

  107. Shoda Wakana, Nomura Naohiro, Ando Fumiaki, Mori Yutaro, Mori Takayasu, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi. Calcineurin inhibitors block sodium-chloride cotransporter dephosphorylation in response to high potassium intake. Kidney Int. 2017.02; 91 (2): 402-411. ( PubMed, DOI )

  108. Mori Takayasu, Hosomichi Kazuyoshi, Chiga Motoko, Mandai Shintaro, Nakaoka Hirofumi, Sohara Eisei, Okado Tomokazu, Rai Tatemitsu, Sasaki Sei, Inoue Ituro, Uchida Shinichi. Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel. Clin Exp Nephrol. 2017.02; 21 (1): 63-75. ( PubMed, DOI )

  109. Purizaca-Rosillo Nelson, Mori Takayasu, Benites-Condor Yamali, Hisama Fuki M, Martin George M, Oshima Junko. High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome. Am J Med Genet A. 2017.02; 173 (2): 471-478. ( PubMed, DOI )

  110. Yokote Koutaro, Chanprasert Sirisak, Lee Lin, Eirich Katharina, Takemoto Minoru, Watanabe Aki, Koizumi Naoko, Lessel Davor, Mori Takayasu, Hisama Fuki M, Ladd Paula D, Angle Brad, Baris Hagit, Cefle Kivanc, Palanduz Sukru, Ozturk Sukru, Chateau Antoinette, Deguchi Kentaro, Easwar T K M, Federico Antonio, Fox Amy, Grebe Theresa A, Hay Beverly, Nampoothiri Sheela, Seiter Karen, Streeten Elizabeth, Pina-Aguilar Raul E, Poke Gemma, Poot Martin, Posmyk Renata, Martin George M, Kubisch Christian, Schindler Detlev, Oshima Junko. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. Hum Mutat. 2017.01; 38 (1): 7-15. ( PubMed, DOI )

  111. Takehara Eriko, Mandai Shintaro, Shikuma Satomi, Akita Wataru, Chiga Motoko, Mori Takayasu, Oda Takashi, Kuwahara Michio, Uchida Shinichi. Post-infectious Proliferative Glomerulonephritis with Monoclonal Immunoglobulin G Deposits Associated with Complement Factor H Mutation. Intern Med. 2017.01; 56 (7): 811-817. ( PubMed, DOI )

  112. Imai Eri, Kaneko Shuzo, Mori Takayasu, Okado Tomokazu, Uchida Shinichi, Tsukamoto Yusuke. Erratum: A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis. Clin Kidney J. 2016.12; 9 (6): 871. ( PubMed, DOI )

  113. Ando Fumiaki, Sohara Eisei, Morimoto Tetsuji, Yui Naofumi, Nomura Naohiro, Kikuchi Eriko, Takahashi Daiei, Mori Takayasu, Vandewalle Alain, Rai Tatemitsu, Sasaki Sei, Kondo Yoshiaki, Uchida Shinichi. Wnt5a induces renal AQP2 expression by activating calcineurin signalling pathway. Nat Commun. 2016.11; 7 13636. ( PubMed, DOI )

  114. Imai Eri, Kaneko Shuzo, Mori Takayasu, Okado Tomokazu, Uchida Shinichi, Tsukamoto Yusuke. A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis. Clin Kidney J. 2016.06; 9 (3): 424-428. ( PubMed, DOI )

  115. Kusuda Takeshi, Hosoya Tadashi, Mori Takayasu, Ihara Katsuhito, Nishida Hidenori, Chiga Motoko, Sohara Eisei, Rai Tatemitsu, Koike Ryuji, Uchida Shinichi, Kohsaka Hitoshi. Acquired Gitelman Syndrome in an Anti-SSA Antibody-positive Patient with a SLC12A3 Heterozygous Mutation. Intern Med. 2016.01; 55 (21): 3201-3204. ( PubMed, DOI )

  116. Mandai Shintaro, Mori Takayasu, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi. Generation of Hypertension-Associated STK39 Polymorphism Knockin Cell Lines With the Clustered Regularly Interspaced Short Palindromic Repeats/Cas9 System. Hypertension. 2015.12; 66 (6): 1199-1206. ( PubMed, DOI )

  117. Kikuchi Hiroaki, Mori Takayasu, Rai Tatemitsu, Uchida Shinichi. Acute kidney injury caused by sarcoid granulomatous interstitial nephritis without extrarenal manifestations. CEN Case Rep. 2015.11; 4 (2): 212-217. ( PubMed, DOI )

  118. Mori Yutaro, Mori Takayasu, Wakabayashi Mai, Yoshizaki Yuki, Zeniya Moko, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi. Involvement of selective autophagy mediated by p62/SQSTM1 in KLHL3-dependent WNK4 degradation. Biochem J. 2015.11; 472 (1): 33-41. ( PubMed, DOI )

  119. Yoshizaki Yuki, Mori Yutaro, Tsuzaki Yoshihito, Mori Takayasu, Nomura Naohiro, Wakabayashi Mai, Takahashi Daiei, Zeniya Moko, Kikuchi Eriko, Araki Yuya, Ando Fumiaki, Isobe Kiyoshi, Nishida Hidenori, Ohta Akihito, Susa Koichiro, Inoue Yuichi, Chiga Motoko, Rai Tatemitsu, Sasaki Sei, Uchida Shinichi, Sohara Eisei. Impaired degradation of WNK by Akt and PKA phosphorylation of KLHL3. Biochem Biophys Res Commun. 2015.11; 467 (2): 229-234. ( PubMed, DOI )

  120. Araki Yuya, Rai Tatemitsu, Sohara Eisei, Mori Takayasu, Inoue Yuichi, Isobe Kiyoshi, Kikuchi Eriko, Ohta Akihito, Sasaki Sei, Uchida Shinichi. Generation and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene. Biol Open. 2015.10; 4 (11): 1509-1517. ( PubMed, DOI )

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  122. Kikuchi Eriko, Mori Takayasu, Zeniya Moko, Isobe Kiyoshi, Ishigami-Yuasa Mari, Fujii Shinya, Kagechika Hiroyuki, Ishihara Tomoaki, Mizushima Tohru, Sasaki Sei, Sohara Eisei, Rai Tatemitsu, Uchida Shinichi. Discovery of Novel SPAK Inhibitors That Block WNK Kinase Signaling to Cation Chloride Transporters. J Am Soc Nephrol. 2015.07; 26 (7): 1525-1536. ( PubMed, DOI )

  123. Susa Koichiro, Sohara Eisei, Rai Tatemitsu, Zeniya Moko, Mori Yutaro, Mori Takayasu, Chiga Motoko, Nomura Naohiro, Nishida Hidenori, Takahashi Daiei, Isobe Kiyoshi, Inoue Yuichi, Takeishi Kenta, Takeda Naoki, Sasaki Sei, Uchida Shinichi. Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice. Hum Mol Genet. 2014.10; 23 (19): 5052-5060. ( PubMed, DOI )

  124. Takahashi Daiei, Mori Takayasu, Nomura Naohiro, Khan Muhammad Zakir Hossain, Araki Yuya, Zeniya Moko, Sohara Eisei, Rai Tatemitsu, Sasaki Sei, Uchida Shinichi. WNK4 is the major WNK positively regulating NCC in the mouse kidney. Biosci Rep. 2014.05; 34 (3): ( PubMed, DOI )

  125. Isobe Kiyoshi, Mori Takayasu, Asano Takako, Kawaguchi Hiroyuki, Nonoyama Shigeaki, Kumagai Naonori, Kamada Fumiaki, Morimoto Tetsuji, Hayashi Matsuhiko, Sohara Eisei, Rai Tatemitsu, Sasaki Sei, Uchida Shinichi. Development of enzyme-linked immunosorbent assays for urinary thiazide-sensitive Na-Cl cotransporter measurement. Am J Physiol Renal Physiol. 2013.11; 305 (9): F1374-F1381. ( PubMed, DOI )

  126. Mori Takayasu, Kikuchi Eriko, Watanabe Yuko, Fujii Shinya, Ishigami-Yuasa Mari, Kagechika Hiroyuki, Sohara Eisei, Rai Tatemitsu, Sasaki Sei, Uchida Shinichi. Chemical library screening for WNK signalling inhibitors using fluorescence correlation spectroscopy. Biochem J. 2013.11; 455 (3): 339-345. ( PubMed, DOI )

  127. Zeniya Moko, Sohara Eisei, Kita Satomi, Iwamoto Takahiro, Susa Koichiro, Mori Takayasu, Oi Katsuyuki, Chiga Motoko, Takahashi Daiei, Yang Sung-Sen, Lin Shih-Hua, Rai Tatemitsu, Sasaki Sei, Uchida Shinichi. Dietary salt intake regulates WNK3-SPAK-NKCC1 phosphorylation cascade in mouse aorta through angiotensin II. Hypertension. 2013.11; 62 (5): 872-878. ( PubMed, DOI )

  128. Mori Yutaro, Wakabayashi Mai, Mori Takayasu, Araki Yuya, Sohara Eisei, Rai Tatemitsu, Sasaki Sei, Uchida Shinichi. Decrease of WNK4 ubiquitination by disease-causing mutations of KLHL3 through different molecular mechanisms. Biochem Biophys Res Commun. 2013.09; 439 (1): 30-34. ( PubMed, DOI )

  129. Takahashi Daiei, Mori Takayasu, Wakabayashi Mai, Mori Yutaro, Susa Koichiro, Zeniya Moko, Sohara Eisei, Rai Tatemitsu, Sasaki Sei, Uchida Shinichi. KLHL2 interacts with and ubiquitinates WNK kinases. Biochem Biophys Res Commun. 2013.08; 437 (3): 457-462. ( PubMed, DOI )

  130. Yoshioka Wakako, Mori Takayasu, Nagahama Kiyotaka, Tamura Teiichi. Biopsy-proven drug-induced tubulointerstitial nephritis in a patient with acute kidney injury and alcoholic severe acute pancreatitis. BMJ Case Rep. 2013.05; 2013 ( PubMed, DOI )

  131. Wakabayashi Mai, Mori Takayasu, Isobe Kiyoshi, Sohara Eisei, Susa Koichiro, Araki Yuya, Chiga Motoko, Kikuchi Eriko, Nomura Naohiro, Mori Yutaro, Matsuo Hiroshi, Murata Tomohiro, Nomura Shinsuke, Asano Takako, Kawaguchi Hiroyuki, Nonoyama Shigeaki, Rai Tatemitsu, Sasaki Sei, Uchida Shinichi. Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension. Cell Rep. 2013.03; 3 (3): 858-868. ( PubMed, DOI )

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  133. 森 崇寧, 蘇原 映誠. 【腎臓病の最新診療】CKDに潜在する遺伝性腎疾患の重要性 日本内科学会雑誌. 2023.05; 112 (5): 799-804. ( 医中誌 )

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  135. 森 崇寧. 【Genetics in CKD】基礎編 サンガーシーケンサーと次世代シーケンサー 腎と透析. 2023.03; 94 (3): 327-332. ( 医中誌 )

  136. 高野英実, 橋詰真衣, 西川雄人, 飯田達也, 田所梨枝, 大塚史子, 森崇寧, 蘇原映誠, 内田信一, 長坂昌一郎. 今月の症例 若年性高血圧で受診し原発性アルドステロン症が疑われたがLiddle症候群の確定診断に至った1症例 日本内科学会雑誌. 2023.02; 112 (2): 228-233.

  137. 岩瀬 正典, 井手 均, 牟田 大毅, 青谷 領一郎, 平田 詩乃, 高木 可南子, 木村 廣志, 伊禮 美央, 竹之下 博正, 森 崇寧. 著明な高血糖による入院を契機に診断された2型糖尿病合併Gitelman症候群の1例 糖尿病. 2023.02; 66 (2): 162-170. ( 医中誌 )

  138. 小野 敦史, 前田 亮, 陶山 和秀, 細矢 光亮, 藤丸 拓也, 森 崇寧, 蘇原 映誠, 内田 信一. 若年で腎機能低下を認めたTSC2遺伝子およびPKD1,PKD2遺伝子異常のない多発性嚢胞腎合併の結節性硬化症 日本小児腎臓病学会雑誌. 2023; 36 61-66. ( 医中誌 )

  139. 中溝 智也, 多田 憲正, 宇田川 智宏, 菊池 絵梨子, 亀井 宏一, 森 崇寧, 蘇原 映誠, 松岡 健太郎, 白井 謙太朗, 渡辺 章充. シクロスポリン投与によりステロイド抵抗性ネフローゼ症候群の長期寛解を維持しているGalloway-Mowat症候群の1例 日本小児腎臓病学会雑誌. 2022.11; 35 (2): 125-132. ( 医中誌 )

  140. Nakano Yuta, Susa Koichiro, Yanagi Tomoki, Hiraoka Yuichi, Suzuki Takefumi, Mori Takayasu, Ando Fumiaki, Mandai Shintaro, Fujiki Tamami, Rai Tatemitsu, Uchida Shinichi, Sohara Eisei. Generation of NPHP1 knockout human pluripotent stem cells by a practical biallelic gene deletion strategy using CRISPR/Cas9 and ssODN IN VITRO CELLULAR & DEVELOPMENTAL BIOLOGY-ANIMAL. 2022.02; 58 (2): 85-95. ( PubMed, DOI )

  141. 森 崇寧, 藤丸 拓也, 蘇原 映誠. 【CKD患者を診たら-最近のCKD診療の知見とその活かし方】CKDに潜む遺伝性腎疾患 内科. 2021.11; 128 (5): 1057-1060. ( 医中誌 )

  142. Miyamoto Ryohei, Sekine Akinari, Fujimaru Takuya, Suwabe Tatsuya, Mizuno Hiroki, Hasegawa Eiko, Yamanouchi Masayuki, Chiga Motoko, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Sawa Naoki, Ubara Yoshifumi, Hoshino Junichi. Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease KIDNEY DISEASES. 2021.11; 8 (3): 246-252. ( PubMed, DOI )

  143. 星野 幹, 萬代 新太郎, 内藤 省太郎, 赤木 祐一朗, 安藤 史顕, 森 崇寧, 須佐 紘一郎, 飯盛 聡一郎, 蘇原 映誠, 頼 建光, 内田 信一. 子宮体癌を背景に治療抵抗性の低Na血症を来した一例 臨床体液. 2021.11; 48 6-10. ( 医中誌 )

  144. 藤丸 拓也, 森 崇寧, 蘇原 映誠. 【腎臓医が診る指定難病】指定難病と今後の展開 難病・希少疾患と遺伝学的検査 腎と透析. 2021.07; 91 (1): 45-49. ( 医中誌 )

  145. 森 崇寧. 【腎疾患領域のゲノム医療と新規治療ターゲット】 次世代シークエンサーによる遺伝性腎疾患網羅的診断パネルの有用性と今後 腎と骨代謝. 2018.01; 31 (1): 27-36. ( 医中誌 )

  146. 藤丸 拓也, 蘇原 映誠, 森 崇寧, 萬代 新太郎, 千賀 宗子, 菊池 寛昭, 安藤 史顕, 森 雄太郎, 野村 尚弘, 内藤 省太郎, 岡戸 丈和, 頼 建光, 内田 信一. 次世代シークエンサーにおける嚢胞性腎疾患遺伝子診断パネルの構築 日本腎臓学会誌. 2017.04; 59 (3): 258. ( 医中誌 )

  147. 蘇原 映誠, 森 崇寧, 内田 信一. ゲノム医療が腎臓病学に果たす役割と展望 次世代シークエンサーを用いた遺伝性腎疾患の解析 日本腎臓学会誌. 2017.04; 59 (3): 193. ( 医中誌 )

  148. 森 崇寧, 内田 信一. 【腎臓医が知っておきたい分子遺伝学の進歩】 基礎編 次世代シーケンサーを用いた網羅的腎疾患診断 腎と透析. 2017.03; 82 (3): 327-333. ( 医中誌 )

  149. Kikuchi Eriko, Mori Takayasu, Uchida Shinichi. [WNK-SPAK-SLC12A signal cascade is a new therapeutic target for hypertension]. Nihon Rinsho. 2015.09; 73 (9): 1597-1605. ( PubMed )

  150. 菊池 絵梨子, 森 崇寧, 内田 信一. WNK-SPAK-SLC12Aカスケードと新規降圧物質SPAK阻害薬 日本臨床. 2015.09; 73 (9): 1597-1605. ( 医中誌 )

  151. 佐々木 成, 森 崇寧, 飯島 一誠, 望月 俊雄. 【水電解質代謝異常と遺伝疾患】 日常臨床に近づいた遺伝子解析 Fluid Management Renaissance. 2015.07; 5 (3): 199-206. ( 医中誌 )

  152. 森 崇寧, 内田 信一. 【知る・見る・活かす!シグナリング研究2015 シグナル伝達の要素発見から時空間ダイナミクスへ】 (第2章)シグナリングから見た生命現象 その破綻と疾患の理解 生体内の塩出納と血圧制御に重要な役割を果たすWNKキナーゼシグナル 生理学的意義とその全容解明へ 実験医学. 2015.06; 33 (10): 1633-1640. ( 医中誌 )

  153. 森 崇寧, 内田 信一. 【遺伝性腎疾患】 偽性低アルドステロン症II型および高血圧性疾患の遺伝子異常 日本腎臓学会誌. 2015.05; 57 (4): 751-757. ( 医中誌 )

  154. Mori Takayasu, Uchida Shinichi. [Causative genetic variants of pseudohypoaldosteronism type II and essential hypertension]. Nihon Jinzo Gakkai Shi. 2015.01; 57 (4): 751-757. ( PubMed )

  155. 森 崇寧, 内田 信一. 【心血管疾患と電解質異常】 診る 次世代シークエンサーを用いた電解質異常のゲノムワイドな解析 Heart View. 2014.10; 18 (10): 1032-1036. ( 医中誌 )

  156. 森 崇寧, 内田 信一. 【腎臓病のすべて】 腎臓病各論 診断とエビデンスに基づいた治療 腎輸送体(チャネル・トランスポーター)の異常による疾患と診断 輸送体機能異常の理解から病態を知る 医学のあゆみ. 2014.05; 249 (9): 851-858. ( 医中誌 )

  157. 森 崇寧, 内田 信一. 【高血圧診療のすべて】 降圧薬のエビデンスと使い方 利尿薬 日本医師会雑誌. 2013.06; 142 (特別1): S260-S261. ( 医中誌 )

  158. 森 崇寧, 佐々木 成. 【最新の知識で答える水電解質106の疑問】 尿を濃縮するためのホルモンと仕組みは? 腎と透析. 2013.04; 74 (4): 626-628. ( 医中誌 )

  159. 森 崇寧, 内田 信一. 【尿細管疾患の臨床】 偽性低アルドステロン症II型 日本腎臓学会誌. 2011.03; 53 (2): 155-159. ( 医中誌 )

  160. Mori Takayasu, Uchida Shinichi. [Pseudohypoaldosteronism type II]. Nihon Jinzo Gakkai Shi. 2011.01; 53 (2): 155-159. ( PubMed )

  161. 森 崇寧, 内田 信一. 水電解質・腎機能に関する最近の話題 キーワードから学ぶ WNKキナーゼ 腎と透析. 2010.08; 69 (2): 129-132. ( 医中誌 )

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