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Mori Takayasu  森 崇寧

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… Alternative Names

森 崇寧  モリ タカヤス

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Researcher Number 00735813
Other IDs
Affiliation (Current) 2025: 東京科学大学, 東京科学大学病院, 講師
Affiliation (based on the past Project Information) *help 2023 – 2024: 東京医科歯科大学, 東京医科歯科大学病院, 助教
2017 – 2022: 東京医科歯科大学, 医学部附属病院, 助教
2015: 東京医科歯科大学, 医歯(薬)学総合研究科, その他
Review Section/Research Field
Principal Investigator
Basic Section 53040:Nephrology-related / Kidney internal medicine
Keywords
Principal Investigator
次世代シークエンサー / 遺伝子解析研究 / パネル遺伝子診断 / 塩喪失性腎症 / 日本人専用 / NGS / CKD / 網羅的遺伝子診断パネル / 嚢胞腎 / 遺伝子研究 … More / 高血圧 / UMOD / ADPKD / CFAP47 / ADTKD / 高血圧症 / ウロモジュリン / パネル遺伝子解析 / エクソームシークエンス / データベース / パネル診断 / 遺伝性腎疾患 Less
  • Research Projects

    (5 results)
  • Research Products

    (113 results)
  • Co-Researchers

    (9 People)
  •  Elucidation of the Genetic Background of CKD and Development of Countermeasures Using a Japanese-Specific CKD Gene PanelPrincipal Investigator

    • Principal Investigator
      森 崇寧
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 53040:Nephrology-related
    • Research Institution
      Tokyo Medical and Dental University
  •  Understanding the physiological regulatory mechanisms and pathophysiological processes of uromodulinPrincipal Investigator

    • Principal Investigator
      Mori Takayasu
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 53040:Nephrology-related
    • Research Institution
      Tokyo Medical and Dental University
  •  Discovery of new causative genes for salt-losing nephropathy and elucidation of its pathological mechanismPrincipal Investigator

    • Principal Investigator
      Mori Takayasu
    • Project Period (FY)
      2019 – 2020
    • Research Category
      Grant-in-Aid for Early-Career Scientists
    • Review Section
      Basic Section 53040:Nephrology-related
    • Research Institution
      Tokyo Medical and Dental University
  •  Search for novel disease causative genes and development of a phenotype-genotype database utilizing the comprehensive kidney disease diagnosis panelPrincipal Investigator

    • Principal Investigator
      Mori Takayasu
    • Project Period (FY)
      2017 – 2018
    • Research Category
      Grant-in-Aid for Research Activity Start-up
    • Research Field
      Kidney internal medicine
    • Research Institution
      Tokyo Medical and Dental University
  •  次世代シーケンサーを用いた高血圧バイオマーカー・良性腎硬化症新規原因遺伝子の探索Principal Investigator

    • Principal Investigator
      森 崇寧
    • Project Period (FY)
      2015 – 2016
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Kidney internal medicine
    • Research Institution
      Tokyo Medical and Dental University

All 2024 2023 2022 2021 2020 2019 2018 2017

All Journal Article Presentation Book Patent

  • [Book] 腎疾患透析最新の治療2023-20252023

    • Author(s)
      森崇寧, 蘇原映誠.
    • Total Pages
      400
    • Publisher
      南江堂
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Journal Article] Gitelman syndrome and in vitro fertilization-embryo transfer: advancing preconception care in nephrology2024

    • Author(s)
      Nagaoka Kanako、Suemitsu Tokumasa、Kawai Kiyotaka、Suzuki Tomo、Mori Takayasu、Tajima Atsushi、Suzuki Makoto、Ohara Mamiko
    • Journal Title

      CEN Case Reports

      Volume: n/a Issue: 6 Pages: 484-488

    • DOI

      10.1007/s13730-024-00872-4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Journal Article] CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease2024

    • Author(s)
      Mori Takayasu、Fujimaru Takuya、Liu Chunyu、Bamshad Michael J、Tan Yue-Qiu、Zhang Feng、Uchida Shinichi、Sohara Eisei、et al.
    • Journal Title

      medRxiv [Preprint]

      Volume: n/a

    • DOI

      10.1101/2024.04.05.24304760

    • Open Access
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Journal Article] Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology2024

    • Author(s)
      Fujimaru Takuya、Mori Takayasu、Chiga Motoko、Mandai Shintaro、Kikuchi Hiroaki、Ando Fumiaki、Mori Yutaro、Susa Koichiro、Nakano Yuta、Shoji Takao、Fukudome Yuichiro、Inaba Naoto、Kitamura Kenichiro、Nakanishi Taichi、Uchida Keiko、Kimura Toshihiro、Tamura Teiichi、Ozawa Kiyoshi、Uchida Shinichi、Sohara Eisei
    • Journal Title

      Kidney International Reports

      Volume: 9 Issue: 4 Pages: 994-1004

    • DOI

      10.1016/j.ekir.2024.01.027

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-22K16233
  • [Journal Article] A case of unexpected diagnosis of fibronectin glomerulopathy with histological features of membranoproliferative glomerulonephritis2024

    • Author(s)
      Hata Misa、Mori Takayasu、Hirose Yurika、Nishida Yuriko、Mandai Shintaro、Ando Fumiaki、Susa Koichiro、Iimori Soichiro、Naito Shotaro、Sohara Eisei、Rai Tatemitsu、Taguchi Towako、Tomii Shohei、Ohashi Kenichi、Uchida Shinichi
    • Journal Title

      BMC Nephrology

      Volume: 25 Issue: 1 Pages: 25-25

    • DOI

      10.1186/s12882-024-03456-7

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-19H03556
  • [Journal Article] ZNF185 prevents stress fiber formation through the inhibition of RhoA in endothelial cells2023

    • Author(s)
      Suzuki Soichiro、Ando Fumiaki、Kitagawa Sae、Hara Yu、Fujiki Tamami、Mandai Shintaro、Susa Koichiro、Mori Takayasu、Sohara Eisei、Rai Tatemitsu、Uchida Shinichi
    • Journal Title

      Communications Biology

      Volume: 6 Issue: 1 Pages: 29-29

    • DOI

      10.1038/s42003-023-04416-x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-21H02933, KAKENHI-PROJECT-23K24346
  • [Journal Article] A Case of Juvenile Hypertension Diagnosed as Liddle Syndrome, Initially Suspected of Primary Aldosteronism2023

    • Author(s)
      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.
    • Journal Title

      Nihon Naika Gakkai Zasshi

      Volume: 112 Issue: 2 Pages: 228-235

    • DOI

      10.2169/naika.112.228

    • ISSN
      0021-5384, 1883-2083
    • Year and Date
      2023-02-10
    • Language
      Japanese
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Journal Article] 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 report2023

    • Author(s)
      Morimoto Nobuhisa、Mori Takayasu、Shioji Shingo、Taguchi Towako、Watanabe Hatsumi、Sakai Keigo、Mori Katsuo、Yamamura Ayumi、Hanioka Asami、Akagi Yuichiro、Fujiki Tamami、Mandai Shintaro、Mori Yutaro、Ando Fumiaki、Susa Koichiro、Iimori Soichiro、Naito Shotaro、Sohara Eisei、Ohashi Kenichi、Uchida Shinichi
    • Journal Title

      BMC Nephrology

      Volume: 24 Issue: 1

    • DOI

      10.1186/s12882-023-03169-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Journal Article] A Case of Gitelman Syndrome and Poorly Controlled Type 2 Diabetes2023

    • Author(s)
      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.
    • Journal Title

      Journal of the Japan Diabetes Society

      Volume: 66 Issue: 2 Pages: 162-170

    • DOI

      10.11213/tonyobyo.66.162

    • ISSN
      0021-437X, 1881-588X
    • Year and Date
      2023-02-28
    • Language
      Japanese
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Journal Article] Thrombocytopenia during avacopan administration: A case report2023

    • Author(s)
      Morimoto Nobuhisa、Mori Takayasu、Shioji Shingo、Watanabe Hatsumi、Sakai Keigo、Mori Katsuo、Yamamura Ayumi、Hanioka Asami、Akagi Yuichiro、Fujiki Tamami、Mandai Shintaro、Mori Yutaro、Ando Fumiaki、Susa Koichiro、Iimori Soichiro、Naito Shotaro、Sohara Eisei、Uchida Shinichi
    • Journal Title

      International Journal of Rheumatic Diseases

      Volume: 26 Issue: 8 Pages: 1603-1607

    • DOI

      10.1111/1756-185x.14645

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Journal Article] Case of hereditary kidney disease presenting thin basement membrane with a single heterozygous variant of Intersectin 22023

    • Author(s)
      Kondo Madoka、Mori Takayasu、Oshita Tadashi、Ohashi Atsuki、Sohara Eisei、Uchida Shinichi、Maeda Yoshitaka
    • Journal Title

      J Rural Med

      Volume: 18 Issue: 2 Pages: 143-148

    • DOI

      10.2185/jrm.2022-048

    • ISSN
      1880-487X, 1880-4888
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Journal Article] NCC regulation by WNK signal cascade2023

    • Author(s)
      Uchida Shinichi、Mori Takayasu、Susa Koichiro、Sohara Eisei
    • Journal Title

      Frontiers in Physiology

      Volume: 13 Pages: 1081261-1081261

    • DOI

      10.3389/fphys.2022.1081261

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22K19518, KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-23K24346
  • [Journal Article] Circulating Extracellular Vesicle-Propagated microRNA Signature as a Vascular Calcification Factor in Chronic Kidney Disease2023

    • Author(s)
      Koide Takaaki、Mandai Shintaro、Kitaoka Reo、Matsuki Hisazumi、Chiga Motoko、Yamamoto Kouhei、Yoshioka Kotaro、Yagi Yohsuke、Suzuki Soichiro、Fujiki Tamami、Ando Fumiaki、Mori Takayasu、Susa Koichiro、Iimori Soichiro、Naito Shotaro、Sohara Eisei、Rai Tatemitsu、Yokota Takanori、Uchida Shinichi
    • Journal Title

      Circulation Research

      Volume: 132 Issue: 4 Pages: 415-431

    • DOI

      10.1161/circresaha.122.321939

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-23K24346
  • [Journal Article] Absence of ULK1 decreases AMPK activity in the kidney, leading to chronic kidney disease progression2023

    • Author(s)
      Tomoki Yanagi, Hiroaki Kikuchi, Koichiro Susa, Naohiro Takahashi, Naohiro Takahashi, Hiroki Bamba, Takefumi Suzuki, Yuta Nakano, Tamami Fujiki, Yutaro Mori, Fumiaki Ando, Shintaro Mandai, Takayasu Mori, Koh Takeuchi, Shinya Honda, Satoru Torii, Shigeomi Shimizu, Tatemitsu Rai, Shinichi Uchida, Eisei Sohara
    • Journal Title

      Genes to Cells

      Volume: 28 Issue: 1 Pages: 5-14

    • DOI

      10.1111/gtc.12989

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K08223, KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-22K07345, KAKENHI-PROJECT-22K19518, KAKENHI-PROJECT-20H00467, KAKENHI-PROJECT-21K20710, KAKENHI-WRAPUP-22H04899, KAKENHI-PROJECT-23K19610, KAKENHI-PUBLICLY-22H04639, KAKENHI-PROJECT-20H03378
  • [Journal Article] Different Clinical Courses of Nephronophthisis in Dizygotic Twins2023

    • Author(s)
      Oki Yutaro、Katsuma Ai、Okabe Masahiro、Watanabe Mao、Sagasaki Makoto、Takahashi Daisuke、Kimura Ai、Kato Junichiro、Ueda Hiroyuki、Hataya Hiroshi、Fujimaru Takuya、Mori Takayasu、Sohara Eisei、Uchida Shinichi、Miyazaki Yoichi、Yokoo Takashi
    • Journal Title

      Intern. Med.

      Volume: 62 Issue: 1 Pages: 87-90

    • DOI

      10.2169/internalmedicine.8707-21

    • ISSN
      0918-2918, 1349-7235
    • Year and Date
      2023-01-01
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-22K19518, KAKENHI-PROJECT-22K16233
  • [Journal Article] Phenotypic Variation in 46,XX Disorders of Sex Development due to the 4th Zinc Finger Domain Variant of WT1 : A Familial Case Report2023

    • Author(s)
      Kirino Shizuka、Yogi Analia、Adachi Eriko、Nakatani Hisae、Gau Maki、Iemura Ryosei、Yamano Haruki、Kanamori Toru、Mori Takayasu、Sohara Eisei、Uchida Shinichi、Okamoto Kentaro、Udagawa Tomohiro、Takasawa Kei、Morio Tomohiro、Kashimada Kenichi
    • Journal Title

      Sexual Development

      Volume: N/A Issue: 1 Pages: 51-55

    • DOI

      10.1159/000529720

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-20K16848
  • [Journal Article] Tuberous sclerosis complicated with polycystic kidney disease in a young adolescent with decreased renal function but without abnormalities in <i>TSC2</i>, <i>PKD1</i>, and <i>PKD2</i> genes2023

    • Author(s)
      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.
    • Journal Title

      Japanese journal of pediatric nephrology

      Volume: 36 Issue: 0 Pages: 61-66

    • DOI

      10.3165/jjpn.cr.2022.0213

    • ISSN
      0915-2245, 1881-3933
    • Language
      Japanese
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-22K16233
  • [Journal Article] Nationwide mortality associated with perioperative acute dialysis requirement in major surgeries2022

    • Author(s)
      Nakano Yuta、Mandai Shintaro、Genma Taku、Akagi Yuichiro、Fujiki Tamami、Ando Fumiaki、Susa Koichiro、Mori Takayasu、Iimori Soichiro、Naito Shotaro、Sohara Eisei、Uchida Shinichi、Fushimi Kiyohide、Rai Tatemitsu
    • Journal Title

      International Journal of Surgery

      Volume: 104 Pages: 106816-106816

    • DOI

      10.1016/j.ijsu.2022.106816

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Journal Article] LRBA is essential for urinary concentration and body water homeostasis2022

    • Author(s)
      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.
    • Journal Title

      Proceedings of the National Academy of Sciences

      Volume: 119 Issue: 30

    • DOI

      10.1073/pnas.2202125119

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K06873, KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-22K18385, KAKENHI-PROJECT-22H04922, KAKENHI-PROJECT-21H02688, KAKENHI-PROJECT-21H02933, KAKENHI-PROJECT-18K08233, KAKENHI-PUBLICLY-21H00291, KAKENHI-PROJECT-23K24346
  • [Journal Article] A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria2022

    • Author(s)
      Hatano Maho、Udagawa Tomohiro、Kanamori Toru、Sutani Akito、Mori Takayasu、Sohara Eisei、Uchida Shinichi、Morio Tomohiro、Nishioka Masato
    • Journal Title

      Human Genome Variation

      Volume: 9 Issue: 1 Pages: 42-42

    • DOI

      10.1038/s41439-022-00221-w

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-20K16848
  • [Journal Article] Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant2022

    • Author(s)
      Ishida Atsushi、Mizuno Haruo、Aoyama Kohei、Sasaki Shiori、Negishi Yutaka、Arakawa Takeshi、Mori Takayasu
    • Journal Title

      Clinical Pediatric Endocrinology

      Volume: 31 Issue: 1 Pages: 44-49

    • DOI

      10.1297/cpe.2021-0029

    • NAID

      130008138912

    • ISSN
      0918-5739, 1347-7358
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Journal Article] novel LMX1B variant identified in a patient presenting with severe renal involvement and thin glomerular basement membrane2021

    • Author(s)
      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
    • Journal Title

      Nephron

      Volume: 145 Issue: 6 Pages: 776-782

    • DOI

      10.1159/000518423

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K22926, KAKENHI-PROJECT-21K06930, KAKENHI-PROJECT-21K08249
  • [Journal Article] Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis2021

    • Author(s)
      Fujimaru Takuya、Kawanishi Kunio、et al.
    • Journal Title

      Kidney International Reports

      Volume: 未定 Issue: 5 Pages: 1346-1354

    • DOI

      10.1016/j.ekir.2021.02.005

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17730, KAKENHI-PROJECT-19K17699, KAKENHI-PROJECT-20K22926, KAKENHI-PROJECT-19H03556, KAKENHI-PROJECT-20H03697, KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-19H03672
  • [Journal Article] Vasopressin Induces Urinary Uromodulin Secretion By Activating PKA (Protein Kinase A)2021

    • Author(s)
      Nanamatsu Azuma、Mori Takayasu、Ando Fumiaki、Furusho Taisuke、Mandai Shintaro、Susa Koichiro、Sohara Eisei、Rai Tatemitsu、Uchida Shinichi
    • Journal Title

      Hypertension

      Volume: epub Issue: 6 Pages: 1953-1963

    • DOI

      10.1161/hypertensionaha.121.17127

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-19H01049, KAKENHI-PROJECT-19H03556, KAKENHI-PROJECT-21H02933, KAKENHI-PROJECT-21K08249, KAKENHI-PROJECT-19H03672
  • [Journal Article] Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific?2021

    • Author(s)
      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
    • Journal Title

      BMC Nephrology

      Volume: 22 Issue: 1 Pages: 1-1

    • DOI

      10.1186/s12882-020-02169-x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-21K08249
  • [Journal Article] A Novel Mutation in <i>LMX1B</i> (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype2021

    • Author(s)
      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
    • Journal Title

      Intern. Med.

      Volume: 60 Issue: 18 Pages: 2991-2996

    • DOI

      10.2169/internalmedicine.6987-20

    • NAID

      130008088274

    • ISSN
      0918-2918, 1349-7235
    • Year and Date
      2021-09-15
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-21K08249
  • [Journal Article] Osteomalacia caused by atypical renal tubular acidosis with vitamin D deficiency: a case report.2021

    • Author(s)
      Takedani K, Notsu M, Koike S, Yamauchi M, Mori T, Sohara E, Yamauchi A, Yoshikane K, Ito T, Kanasaki K.
    • Journal Title

      CEN Case Rep

      Volume: 10 Issue: 2 Pages: 294-300

    • DOI

      10.1007/s13730-020-00561-y

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08738, KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-21K08249
  • [Journal Article] LMX1B-associated nephropathy that showed myelin figures on electron microscopy2021

    • Author(s)
      Shimohata Homare、Miyake Yusuke、Yoshida Yu、Usui Joichi、Mori Takayasu、Sohara Eisei、Uchida Shinichi、Hirayama Kouichi、Kobayashi Masaki
    • Journal Title

      CEN Case Reports

      Volume: 10 Issue: 4 Pages: 588-591

    • DOI

      10.1007/s13730-021-00612-y

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Journal Article] An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia2021

    • Author(s)
      Tao Katsuo、Awazu Midori、Honda Misa、Shibata Hironori、Mori Takayasu、Uchida Shinichi、Hasegawa Tomonobu、Ishii Tomohiro
    • Journal Title

      Endocrinology, Diabetes & Metabolism Case Reports

      Volume: 2021 Pages: 1-5

    • DOI

      10.1530/edm-20-0189

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-21K08249
  • [Journal Article] A patient with congenital nephrogenic diabetes insipidus due to AVPR2 mutation complicated by persisting polydipsia under hemodialysis treatment2020

    • Author(s)
      Iijima Takashi、Mori Takayasu、Sohara Eisei、Suwabe Tatsuya、Hoshino Junichi、Ubara Yoshifumi
    • Journal Title

      CEN Case Reports

      Volume: 10 Issue: 2 Pages: 226-229

    • DOI

      10.1007/s13730-020-00549-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-21K08249
  • [Journal Article] Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report2020

    • Author(s)
      Tsuji Kiyokazu、Kitamura Mineaki、Muta Kumiko、Mochizuki Yasushi、Mori Takayasu、Sohara Eisei、Uchida Shinichi、Sakai Hideki、Mukae Hiroshi、Nishino Tomoya
    • Journal Title

      BMC Nephrology

      Volume: 21 Issue: 1 Pages: 282-282

    • DOI

      10.1186/s12882-020-01940-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17747, KAKENHI-PROJECT-19K17733
  • [Journal Article] Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency2020

    • Author(s)
      Umene Ryusuke、Kitamura Mineaki、Arai Hideyuki、Matsumura Kazuki、Ishimaru Yuka、Maeda Kanenori、Uramatsu Tadashi、Obata Yoko、Mori Takayasu、Sohara Eisei、Uchida Shinichi、Nishino Tomoya
    • Journal Title

      CEN Case Reports

      Volume: 9 Issue: 4 Pages: 375-379

    • DOI

      10.1007/s13730-020-00489-3

    • NAID

      120006988501

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17747, KAKENHI-PROJECT-19K17733
  • [Journal Article] A family with Gitelman syndrome with asymptomatic phenotypes while carrying reported SLC12A3 mutations.2020

    • Author(s)
      Ishikawa M, Tada Y, Tanaka H, Morii W, Inaba M, Takada H, Mori T, Noguchi E
    • Journal Title

      Case Rep Nephrol Dial

      Volume: 10 Issue: 2 Pages: 71-78

    • DOI

      10.1159/000507845

    • NAID

      120007180702

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19H03613, KAKENHI-PROJECT-19K17733
  • [Journal Article] HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.2020

    • Author(s)
      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.
    • Journal Title

      CEN Case Rep

      Volume: pub Issue: 3 Pages: 210-214

    • DOI

      10.1007/s13730-020-00459-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-19H03672, KAKENHI-PROJECT-18K08198, KAKENHI-PROJECT-19K23933
  • [Journal Article] Familial cases of pseudohypoaldosteronism type II harboring a novel mutation in the Cullin 3 gene2020

    • Author(s)
      Nakano Kiyoshi、Kubota Yasuo、Mori Takayuki、Chiga Motoko、Mori Takayasu、Sonoda Shyunya、Ueda Daisuke、Asakura Isao、Ikegaya Takeshi、Kagawa Jiro、Uchida Shinichi、Kubota Akira
    • Journal Title

      Nephrology

      Volume: 25 Issue: 11 Pages: 818-821

    • DOI

      10.1111/nep.13752

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K17733
  • [Journal Article] Genetics May Predict Effectiveness of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease2020

    • Author(s)
      Sekine Akinari、Hoshino Junichi、Fujimaru Takuya、Suwabe Tatsuya、Mizuno Hiroki、Kawada Masahiro、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
    • Journal Title

      American Journal of Nephrology

      Volume: 51 Issue: 9 Pages: 745-751

    • DOI

      10.1159/000509817

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K22926, KAKENHI-PROJECT-19H03672, KAKENHI-PROJECT-18K08227, KAKENHI-PROJECT-19K17733
  • [Journal Article] Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood2020

    • Author(s)
      Mori Takayasu、Chiga Motoko、Fujimaru Takuya、Kawamoto Ryosuke、Mandai Shintaro、Nanamatsu Azuma、Nomura Naohiro、Ando Fumiaki、Susa Koichiro、Sohara Eisei、Rai Tatemitsu、Uchida Shinichi
    • Journal Title

      Human Mutation

      Volume: 42 Issue: 3 Pages: 300-309

    • DOI

      10.1002/humu.24159

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K22926, KAKENHI-PROJECT-19H03556, KAKENHI-PROJECT-19H03672, KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-21K08249
  • [Journal Article] PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion.2019

    • Author(s)
      Watanabe S, Ino J, Fujimaru T, Taneda S, Akihisa T, Makabe S, Kataoka H, Mori T, Sohara E, Uchida S, Nitta K, Mochizuki T.
    • Journal Title

      Clin Case Rep

      Volume: 7 Issue: 2 Pages: 336-339

    • DOI

      10.1002/ccr3.1947

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H06657, KAKENHI-PROJECT-19K17733
  • [Journal Article] Complete clinical resolution of a Japanese family with renal pseudohypoaldosteronism type 1 due to a novel NR3C2 mutation.2019

    • Author(s)
      Tanaka T, Oki E, Mori T, Tsuruga K, Sohara E, Uchida S, Tanaka H.
    • Journal Title

      Nephrology (Carlton)

      Volume: 24 Issue: 4 Pages: 489-490

    • DOI

      10.1111/nep.13391

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H06657, KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-19H03672
  • [Journal Article] Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History2019

    • Author(s)
      Sekine Akinari、Fujimaru Takuya、Hoshino Junichi、Suwabe Tatsuya、Oguro Masahiko、Mizuno Hiroki、Kawada Masahiro、Sumida Keiichi、Hiramatsu Rikako、Chiga Motoko、Kikuchi Hiroaki、Ando Fumiaki、Mori Takayasu、Sohara Eisei、Uchida Shinichi、Sawa Naoki、Takaichi Kenmei、Ubara Yoshifumi
    • Journal Title

      American Journal of Nephrology

      Volume: 49 Issue: 3 Pages: 233-240

    • DOI

      10.1159/000497444

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05314, KAKENHI-PROJECT-17H06657, KAKENHI-PROJECT-18K08227, KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-19H03672
  • [Journal Article] A case of Gitelman syndrome: our experience with a patient treated in clinical practice on a local island2019

    • Author(s)
      Chinen Takashi、Saeki Eiji、Mori Takayasu、Sohara Eisei、Uchida Shinichi、Akimoto Tetsu
    • Journal Title

      J Rural Med

      Volume: 14 Issue: 2 Pages: 258-262

    • DOI

      10.2185/jrm.3014

    • NAID

      130007748822

    • ISSN
      1880-487X, 1880-4888
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-19H03672
  • [Journal Article] Non-urate transporter 1, non-glucose transporter member 9-related renal hypouricemia and acute renal failure accompanied by hyperbilirubinemia after anaerobic exercise: a case report2019

    • Author(s)
      Furuto Yoshitaka、Kawamura Mariko、Namikawa Akio、Takahashi Hiroko、Shibuya Yuko、Mori Takayasu、Sohara Eisei
    • Journal Title

      BMC Nephrology

      Volume: 20 Issue: 1 Pages: 433-433

    • DOI

      10.1186/s12882-019-1618-1

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-19H03672
  • [Journal Article] A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.2019

    • Author(s)
      Sakoh T, Sekine A, Mori T, Mizuno H, Kawada M, Hiramatsu R, Hasegawa E, Hayami N, Yamanouchi M, Suwabe T, Sawa N, Ubara Y, Fujimaru T, Sohara E, Shinichi U, Hoshino J, Takaichi K.
    • Journal Title

      Mol Genet Genomic Med

      Volume: 1 Issue: 6

    • DOI

      10.1002/mgg3.705

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H06657, KAKENHI-PROJECT-19K17733, KAKENHI-PROJECT-19H03672
  • [Journal Article] Renal histology and MRI in a 25-year-old Japanese man with nephronophthisis 4?2018

    • Author(s)
      Takada D, Sekine A, Yabuuchi J, Kogure Y, Ueno T, Yamanouchi M, Sumida K, Suwabe T, Hayami N, Hoshino J, Takaichi K, Kinowaki K, Fujii T, Ohashi K, Mori T, Sohara E, Uchida S, Ubara Y.
    • Journal Title

      Clinical Nephrology

      Volume: 89 Issue: 3 Pages: 223-228

    • DOI

      10.5414/cn109175

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Journal Article] PKD1の複合ヘテロ接合体変異を示しARPKDと類似した臨床像を呈した男児例2018

    • Author(s)
      亀井 宏一, 稲垣 秀人, 森 崇寧, 藤丸 拓也, 蘇原 映誠, 濱崎 祐子, 宍戸 清一郎, 義岡 孝子, 緒方 謙太郎, 岡田 麻理, 小椋 雅夫, 佐藤 舞, 倉橋 浩樹, 石倉 健司.
    • Journal Title

      日本小児腎不全学会雑誌

      Volume: 38 Pages: 152-155

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Journal Article] Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the CLCN5 gene.2018

    • Author(s)
      Matsumoto A, Matsui I, Mori T, Sakaguchi Y, Mizui M, Ueda Y, Takahashi A, Doi Y, Shimada K, Yamaguchi S, Kubota K, Hashimoto N, Oka T, Takabatake Y, Sohara E, Hamano T, Uchida S, Isaka Y.
    • Journal Title

      Intern Med

      Volume: 57 Issue: 24 Pages: 3603-3610

    • DOI

      10.2169/internalmedicine.1272-18

    • NAID

      130007531202

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Journal Article] Renal histology and MRI findings in a 37-year-old Japanese patient with autosomal recessive polycystic kidney disease2017

    • Author(s)
      Ito Y, Sekine A, Takada D, Yabuuchi J, Kogure Y, Ueno T, Sumida K, Yamanouchi M, Hayami N, Suwabe T, Hoshino J, Sawa N, Takaichi K, Kinowaki K, Fujii T, Ohashi K, Kikuchi H, Mandai S, Chiga M, Mori T, Sohara E, Uchida S, Ubara Y.
    • Journal Title

      Clinical Nephrology

      Volume: 88 Issue: 11 Pages: 292-297

    • DOI

      10.5414/cn109179

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Journal Article] Inherited, not acquired, Gitelman syndrome in a patient with Sj?gren’s syndrome: importance of genetic testing to distinguish the two forms2017

    • Author(s)
      Mishima E, Mori T, Sohara E, Uchida S, Abe T, Ito S.
    • Journal Title

      CEN Case Reports

      Volume: 6 Issue: 2 Pages: 180-184

    • DOI

      10.1007/s13730-017-0271-4

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H06657, KAKENHI-PROJECT-16K19474
  • [Journal Article] ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes2017

    • Author(s)
      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
    • Journal Title

      Human Mutation

      Volume: 39 Issue: 2 Pages: 255-265

    • DOI

      10.1002/humu.23367

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H04037, KAKENHI-PROJECT-17H06657
  • [Journal Article] Post-infectious Proliferative Glomerulonephritis with Monoclonal Immunoglobulin G Deposits Associated with Complement Factor H Mutation2017

    • Author(s)
      Takehara E, Mandai S, Shikuma S, Akita W, Chiga M, Mori T, Oda T, Kuwahara M, Uchida S.
    • Journal Title

      Intern. Med.

      Volume: 56 Issue: 7 Pages: 811-817

    • DOI

      10.2169/internalmedicine.56.7778

    • NAID

      130005530175

    • ISSN
      0918-2918, 1349-7235
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23590702, KAKENHI-PROJECT-17K08992, KAKENHI-PROJECT-17H06657
  • [Patent] 慢性腎臓病の検査方法2023

    • Inventor(s)
      蘇原映誠、森崇寧
    • Industrial Property Rights Holder
      蘇原映誠、森崇寧
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2023-177278
    • Filing Date
      2023
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 腎臓内科医からみたFabry 病 高齢患者の治療例紹介.2023

    • Author(s)
      森崇寧.
    • Organizer
      ファブリー病カンファレンス
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 高血圧症と低カリウム血症の精査で尿細管機 能異常症が疑われた一例.2023

    • Author(s)
      木村彰吾, 根岸美穂, 秋元福太郎, 赤座至, 森崇寧, 泉山肇.
    • Organizer
      第96回日本内分泌学会学術総会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 肉眼的血尿の精査過程で診断のついたGitelman 症候群の一例.2023

    • Author(s)
      原裕樹, 吉野かえで, 高野敬佑, 遠藤慶太, 北村浩一, 森崇寧, 蘇原映誠, 内田信一, 林晃一, 鈴木利彦.
    • Organizer
      第53 回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 網羅的遺伝子解析から見えたこと~CKD における希少疾患の存在意義~.2023

    • Author(s)
      森崇寧.
    • Organizer
      Sumitomo Pharma 遺伝性腎疾患フォーラム
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 低カリウム血症と濃厚な高血圧の家族歴からLiddle 症候群の診断に至った親子例.2023

    • Author(s)
      徳永美菜子, 関祐子, 堀口達史, 三浦希和子, 柿本令奈, 森田智, 溝田美智代, 森崇寧, 蘇原映誠, 内田信一.
    • Organizer
      第96回日本内分泌学会学術総会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] IFT140 のヘテロ接合性変異は家族歴のない成人多発性腎嚢胞の一因である.2023

    • Author(s)
      藤丸拓也, 森崇寧, 蘇原映誠, 千賀宗子, 萬代新太郎, 藤木珠美, 森雄太郎, 安藤史顕, 須佐紘一郎, 飯盛 聡一郎, 内藤省太郎, 内田信一.
    • Organizer
      第66 回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] Discovery of a Novel Candidate Gene Implicated in X-Linked Polycystic Kidney Disease.2023

    • Author(s)
      Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kohei Yamamoto, Takefumi Suzuki, Motoko Chiga, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Koichiro Susa, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara.
    • Organizer
      Kidney Week 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 腎臓内科医が考えるNGS.2023

    • Author(s)
      森崇寧.
    • Organizer
      FabryDisease 9/3 NGS 座談会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] Monoallelic IFT140 Pathogenic Variants in Adult Polycystic Kidney Disease Patients Without Family History.2023

    • Author(s)
      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.
    • Organizer
      ASN Kidney Week 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] ADCK4 変異による COQ10 腎症の一卵性双生児.2023

    • Author(s)
      眞部俊, 川嶋萌, 川地慧子, 金井弘次, 森崇寧, 種田積子, 森山能仁, 星野純一.
    • Organizer
      第53 回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 生体腎移植後に進行性の腎機能障害を認め、原発性高シュウ酸尿症が明らかとなった1 例.2023

    • Author(s)
      森剛, 添野真嗣, 有吉勇一, 岡大祐, 小林肇, 久保隆史, 安藤哲郎, 渕之上昌平, 森崇寧, 蘇原映誠, 内田信一.
    • Organizer
      移植学会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] WT1 Zinc finger 4 変異のポド サイト制御機能解析.2023

    • Author(s)
      金森透, 宇田川智宏, 村越未希, 奥津美夏, 森崇寧, 蘇原映誠, 内田信一.
    • Organizer
      第66 回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] Discovery of a novel responsible gene implicated in X-linked polycystic kidney disease.2023

    • Author(s)
      Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Michael J. Bamshad, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara, et al.
    • Organizer
      第7 回文京腎研究会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 成人期 に末期腎不全に至った患者の遺伝的背景の検討.2023

    • Author(s)
      藤丸拓也, 蘇原映誠, 森崇寧, 千賀宗子, 萬代新太郎, 中野雄太, 森雄太郎, 安藤史顕, 須佐紘一郎, 東海 林隆男, 福留裕一郎, 稲葉直人, 北村健一郎, 中西太一, 木村寿宏, 田村禎一, 小澤潔, 内田信一.
    • Organizer
      第66 回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] Underlying Genetic Causes of Adult Patients With ESKD Undergoing Hemodialysis Therapy2022

    • Author(s)
      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
    • Organizer
      ASN Kidney Week 2022
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 多発性嚢胞腎患者における遺伝学的背景と大腸憩室の関係性について2022

    • Author(s)
      小澤征良, 関根章成, 藤丸拓也, 諏訪部達也, 水野裕基, 井上典子, 長谷川詠子, 山内真之, 大庭悠貴, 井熊大輔, 田中希穂, 森崇寧, 蘇原映誠, 内田信一, 澤直樹, 乳原善文, 星野純一
    • Organizer
      第65回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] ADPKD患者における遺伝学的背景や総腎容積と脳動脈瘤の関係性について2022

    • Author(s)
      関根章成, 藤丸拓也, 諏訪部達也, 水野裕基, 井上典子, 長谷川詠子, 山内真之, 田中希穂, 森崇寧, 蘇原映誠, 内田信一, 澤直樹, 乳原善文, 星野純一
    • Organizer
      第65回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 高度蛋白尿を契機にNPHS1変異を診断された42歳男性2022

    • Author(s)
      眞部 俊, 川嶋 萌, 秋山 健一, 佐藤 尚代, 片岡 浩史, 森 崇寧, 望月 俊雄, 新田 孝作, 星野 純一
    • Organizer
      第52回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] [シンポジウム] 嚢胞性腎疾患ならびに遺伝性尿細管間質性腎疾患に対する遺伝子診断の実際2022

    • Author(s)
      森崇寧, 藤丸拓也, 蘇原映誠
    • Organizer
      第65回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 教育講演4「尿細管輸送体異常症アップデート」2021

    • Author(s)
      森崇寧
    • Organizer
      第51回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] 遺伝性腎臓病が疑われた症例において嚢胞性腎疾患を除く約半数にCOL4A遺伝子群の希少変異を認めた2021

    • Author(s)
      河本亮介, 森崇寧, 安藤史顕, 萬代新太郎, 須佐紘一郎, 蘇原映誠, 頼建光, 内田信一
    • Organizer
      第64回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] Vasopressin induces urinary uromodulin secretion by activating protein kinase A2021

    • Author(s)
      Nanamatsu A, Mori T, Ando F, Furusho T, Mandai S, Susa K, Sohara E, Rai T, Uchida S
    • Organizer
      ASN Kidney Week 2021
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] ADTKD:的確な診断と最善の治療を目指して2021

    • Author(s)
      蘇原映誠, 藤丸拓也, 森崇寧, 内田信一
    • Organizer
      第64回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] バゾプレシンはPKA活性化を介してuromodulin尿中分泌を促進する2021

    • Author(s)
      七松東, 森崇寧, 安藤史顕, 古荘泰佑, 萬代新太郎, 須佐紘一郎, 蘇原映誠, 頼建光, 内田信一
    • Organizer
      第64回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] バゾプレシンはPKA活性化を介してuromodulin尿中分泌を促進し、細胞内uromodulin発現を減少させる2021

    • Author(s)
      七松東, 森崇寧, 安藤史顕, 藤木珠美, 萬代新太郎, 須佐紘一郎, 蘇原映誠, 頼建光, 内田信一
    • Organizer
      第11回分子腎臓フォーラム
    • Data Source
      KAKENHI-PROJECT-21K08249
  • [Presentation] PKAはhepsinの活性に影響しuromodulinの細胞外分泌を促進する.2020

    • Author(s)
      七松東, 森崇寧, 安藤史顕, 萬代新太郎, 磯部清志, 須佐紘一郎, 蘇原映誠, 頼建光, 内田信一.
    • Organizer
      第63回日本腎臓学会学術総会2020.08 横浜, web
    • Data Source
      KAKENHI-PROJECT-19K17733
  • [Presentation] Gitelman 症候群と臨床診断された成人患者の遺伝的背景と変異陰性例における表現系の検討.2020

    • Author(s)
      森崇寧,千賀宗子,藤丸拓也,萬代新太郎,蘇原映誠,頼建光,内田信一.
    • Organizer
      第63 回日本腎臓学会学術総会2020.08 横浜, web
    • Data Source
      KAKENHI-PROJECT-19K17733
  • [Presentation] 腎生検にてネフロン癆が疑われた成人症例における臨床;病理所見と遺伝的背景の関係.2020

    • Author(s)
      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, 岡戸丈和, 頼建光, 川西 邦夫, 長田道夫, 内田信一.
    • Organizer
      第63回日本腎臓学会学術総会2020.08 横浜, web
    • Data Source
      KAKENHI-PROJECT-19K17733
  • [Presentation] 網羅的遺伝子診断が腎臓病診断と治療にもたらすもの.2019

    • Author(s)
      森崇寧.
    • Organizer
      第39回東部腎カンファランス.
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K17733
  • [Presentation] 先天性腎性尿崩症と診断された女児の外来経過2019

    • Author(s)
      加藤 雅弘, 伊藤 貴美子, 児玉 由布子, 吉川 祥子, 稲川 明良, 沼田 侑也, 小島 大英, 鹿野 博明, 藤井 秀比古, 中嶋 義記, 森 崇寧, 蘇原 映誠, 内田 信一.
    • Organizer
      第122回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 次世代シークエンサーによる腎臓病網羅的遺伝子診断パネルの構築 --網羅的遺伝子解析の重要性--.2019

    • Author(s)
      森崇寧, 藤丸拓也, 蘇原映誠, 内田信一.
    • Organizer
      第62回日本腎臓学会学術総会.
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K17733
  • [Presentation] Tubular Basement Membrane Duplication and Cell Interposition Are Distinctive Histological Findings in the Adult Patients Genetically Diagnosed with Nephronophthisis-Related Ciliopathies.2019

    • Author(s)
      Fujimaru T, Mori T, Nagata M, Mandai S, Chiga M, Kikuchi H, Ando F, Mori Y, Susa K, Isobe K, Iimori S, Nomura N, Naito S, Okado T, Rai T, Uchida S, Sohara E.
    • Organizer
      ASN Kidney Week 2019.
    • Data Source
      KAKENHI-PROJECT-19K17733
  • [Presentation] More than half of patients clinically diagnosed as Gitelman syndrome in adulthood do not have causal mutations in known pathogenic genes.2019

    • Author(s)
      Mori T, Chiga M, Fujimaru T, Mandai S, Nanamatsu A, Sohara E, Rai T, Uchida S.
    • Organizer
      ASN Kidney Week 2019.
    • Data Source
      KAKENHI-PROJECT-19K17733
  • [Presentation] TRPM6遺伝子変異を有する低Mg血症の一例2019

    • Author(s)
      尾崎 健太郎, 高木 大輔, 森 崇寧, 具嶋 泰弘, 前原 潤一.
    • Organizer
      第46回日本集中治療医学会学術集会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 離島診療所の外来診療で診断したGitelman症候群の一例2019

    • Author(s)
      知念 崇, 佐伯 英二, 森 崇寧, 蘇原 映誠, 内田 信一, 秋元 哲.
    • Organizer
      第116回日本内科学会総会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] Genomic Background of Adults with Suspected Ciliopathy on Renal Biopsy.2018

    • Author(s)
      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.
    • Organizer
      ASN Kidney Week 2018.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] ゲノムから解くADPKD 嚢胞性腎疾患の網羅的遺伝子解析システムの開発と応用2018

    • Author(s)
      蘇原 映誠, 森 崇寧, 藤丸 拓也, 内田 信一.
    • Organizer
      第61回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 蛋白尿を呈するGitelman症候群の一例2018

    • Author(s)
      大塚 智之, 鈴木 仁, 中山 麻衣子, 狩野 俊樹, 上田 誠二, 木原 正夫, 森 崇寧, 蘇原 映誠, 内田 信一, 鈴木 祐介.
    • Organizer
      第48回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] Genome big data will open the way of the future in nephrology.2018

    • Author(s)
      Mori T.
    • Organizer
      第5回次世代腎研究アカデミー.
    • Invited
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 家族歴のない成人多発性腎嚢胞患者における網羅的遺伝子解析を用いた遺伝子診断と臨床所見の検討2018

    • Author(s)
      藤丸 拓也, 蘇原 映誠, 森 崇寧, 関根 章成, 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, 飯盛 聡一郎, 内藤 省太郎, 岡戸 丈和, 頼 建光, 星野 純一, 乳原 善文, 内田 信一.
    • Organizer
      第61回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 二つのBartter症候群責任遺伝子に複合ヘテロ接合性変異を認めた塩喪失腎症の1例2018

    • Author(s)
      松村 一騎, 梅根 隆介, 中村 祐太, 黒部 由佳, 新井 英之, 村谷 良昭, 前田 兼徳, 森 崇寧, 蘇原 映誠, 内田 信一, 西野 友哉.
    • Organizer
      第48回日本腎臓学会西部学術大会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 腎生検所見から何を学ぶか(No.62) 東京腎生検カンファレンス 常染色体優性遺伝形式の間質性腎炎の家族歴を有し遺伝子検査でADTKD-UMODと診断された男性の1例2018

    • Author(s)
      水野 裕基, 小黒 昌彦, 関根 章成, 川田 真宏, 平松 里佳子, 住田 圭一, 長谷川 詠子, 山内 真之, 早見 典子, 澤 直樹, 星野 純一, 乳原 善文, 高市 憲明, 原 茂子, 藤井 丈士, 大橋 健一, 小野江 為人, 川野 充弘, 森 崇寧, 蘇原 映誠, 内田 信一, 本田 一穂, 尾田 高志.
    • Organizer
      第94回東京腎生検カンファレンス
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] PKD1変異を認めたMedullary cystic kidney disease(MCKD)の一例2018

    • Author(s)
      岩崎 沙理, 島本 真実子, 藤丸 拓也, 森 崇寧, 蘇原 映誠, 石津 明洋, 今本 鉄平, 石立 尚路, 辻 隆裕, 深澤 雄一郎.
    • Organizer
      第107回日本病理学会総会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] Genomic diagnosis of adult polycystic kidney disease with no family history.2018

    • Author(s)
      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.
    • Organizer
      ISN Frontiers Meetings 2018.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 重篤な腎不全家系の原因としてUromodulin(UMOD)遺伝子変異を認めた一例2018

    • Author(s)
      池ノ内 健, 野村 尚弘, 磯部 清志, 森 崇寧, 田中 春奈, 安藤 史顕, 飯盛 聡一郎, 内藤 省太郎, 蘇原 映誠, 岡戸 丈和, 頼 建光, 内田 信一.
    • Organizer
      第48回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 非典型的な経過をたどり遺伝子検査にて診断し得た常染色体優性多発性嚢胞腎の一例2018

    • Author(s)
      鳥光 拓人, 山崎 拓也, 小杉 将太郎, 唐澤 隆明, 今福 俊夫, 藤丸 拓也, 森 崇寧, 蘇原 映誠, 内田 信一.
    • Organizer
      第48回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 多発性嚢胞腎弧発例における遺伝子変異と臨床経過の関係性2018

    • Author(s)
      関根 章成, 星野 純一, 藤丸 拓也, 小黒 昌彦, 水野 裕基, 川田 真宏, 住田 圭一, 平松 里佳子, 長谷川 詠子, 早見 典子, 山内 真之, 諏訪部 達也, 澤 直樹, 森 崇寧, 蘇原 映誠, 内田 信一, 高市 憲明, 乳原 善文.
    • Organizer
      第61回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] ARBにより尿蛋白が著減したBartter症候群3型の一例2018

    • Author(s)
      青木 雄平, 森戸 卓, 岩崎 千尋, 角田 幸雄, 本田 一穂, 森 崇寧, 藤丸 拓也, 蘇原 映誠, 内田 信一, 波多野 道康.
    • Organizer
      第48回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 偽性低アルドステロン症2型が強く疑われる一家系2018

    • Author(s)
      酒匂 崇史, 関根 章成, 水野 裕基, 川田 真宏, 住田 圭一, 平松 里佳子, 長谷川 詠子, 山内 真之, 早見 典子, 諏訪部 達也, 森 崇寧, 蘇原 映誠, 内田 信一, 星野 純一, 澤 直樹, 乳原 善文, 高市 憲明.
    • Organizer
      第48回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 腎機能障害は軽度であり高カルシウム尿症を認めなかったがDent病と診断し得た成人男性の1例2018

    • Author(s)
      中野 雄太, 村木 直弘, 石原 早織, 杉田 行平, 大橋 敦希, 山室 めぐみ, 熊谷 二朗, 長濱 清隆, 森 崇寧, 藤澤 一.
    • Organizer
      第647回日本内科学会関東地方会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] Development and application of comprehensive genetic testing system for major inherited kidney diseases, using next-generation sequencing with custom panels.2018

    • Author(s)
      Sohara E, Mori T, Uchida S.
    • Organizer
      20th Nephrology Symposium.
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] Precision Medicine in Nephrology 腎臓病学の精密医療 次世代シークエンサーが変えた遺伝性腎疾患診療 網羅的遺伝子解析から精密医療を目指して2018

    • Author(s)
      森 崇寧, 藤丸 拓也, 安藤 史顕, 蘇原 映誠, 頼 建光, 内田 信一.
    • Organizer
      第61回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] COL4A4遺伝子新規ヘテロ接合体ナンセンス変異を認めた常染色体優性アルポート症候群の一例2018

    • Author(s)
      桑原 加奈子, 秋久 太良, 若山 慈恵, 真壁 志帆, 佐藤 尚代, 新田 孝作, 望月 俊雄, 種田 積子, 森 崇寧, 蘇原 映誠, 内田 信一.
    • Organizer
      第48回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] ADPKDとLiddle症候群様所見を伴うPKD2のlarge deletion変異の1例2018

    • Author(s)
      財津 亜友子, 田中 征治, 江崎 拓也, 藤丸 拓也, 森 崇寧, 蘇原 映誠, 内田 信一, 山下 裕史朗.
    • Organizer
      第53回日本小児腎臓病学会学術集会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 若年発症で濃厚な家族歴より家族性高アルドステロン症2型が疑われた一家系2018

    • Author(s)
      安澤 由香利, 中山 良朗, 本間 健一郎, 屋比久 賢光, 國場 司, 照屋 太輝, 仲村 武裕, 與那嶺 正人, 上原 盛幸, 竹本 のぞみ, 仲村 英昭, 難波 豊隆, 河本 絵里子, 砂川 澄人, 植田 玲, 池間 朋己, 島尻 佳典, 森 崇寧, 内田 信一, 益崎 裕章.
    • Organizer
      第91回日本内分泌学会学術総会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 遠位尿細管性アシドーシスの新たな原因としてATP6V0A4単一ヘテロ接合性変異を提唱する2017

    • Author(s)
      森 崇寧, 千賀 宗子, 藤丸 拓也, 萬代 新太郎, 渡辺 翔太, 森下 雄大, 上村 治, 今井 惠理, 金子 修三, 塚本 雄介, 蘇原 映誠, 頼 建光, 内田 信一
    • Organizer
      第60回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 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2017

    • Author(s)
      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
    • Organizer
      第60回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 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2017

    • Author(s)
      蘇原 映誠, 森 崇寧, 内田 信一
    • Organizer
      第60回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] Genomic background of adult polycystic kidney disease patients without a family history.2017

    • Author(s)
      Takuya Fujimaru, Takayasu Mori, Akinari Sekine, Shintaro Mandai, Motoko Chiga, Hiroaki Kikuchi , Fumiaki Ando, Yutaro Mori, Naohiro Nomura, Shotaro Naito, Tomokazu Okado, Tatemitsu Rai, Junichi Hoshino, Yoshifumi Ubara, Shinichi Uchida, Eisei Sohara.
    • Organizer
      The 50th Annual Meeting of the American Society of Nephrology
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 典型的遺伝子異常がなかった腎性低尿酸血症に伴う運動後急性腎不全の一例2017

    • Author(s)
      古殿 孝高, 並河 明雄, 大内 治紀, 高橋 紘子, 渋谷 祐子, 森 崇寧, 蘇原 映誠
    • Organizer
      第47回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] 腎生検で傍糸球体装置の過形成を確認したGitelman症候群の1例2017

    • Author(s)
      高橋 慧, 真田 覚, 佐藤 光博, 森 崇寧, 蘇原 映誠, 内田 信一, 佐藤 壽伸, 田熊 淑男
    • Organizer
      第47回日本腎臓学会東部学術大会
    • Data Source
      KAKENHI-PROJECT-17H06657
  • [Presentation] We propose single heterozygous mutation in ATP6V0A4 as novel genetic cause of dRTA.2017

    • Author(s)
      Takayasu Mori, Motoko Chiga, Takuya Fujimaru, Shintaro Mandai, ShotaWatanabe, Yasuhisa Nakamura, Takehiro Morishita, Osamu Uemura, Eri Imai, Shuzo Kaneko, Yusuke Tsukamoto, Eisei Sohara, Tatemitsu Rai, Shinichi Uchida.
    • Organizer
      The 50th Annual Meeting of the American Society of Nephrology
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H06657
  • 1.  SOHARA Eisei
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 2.  藤丸 拓也
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 3.  北村 峰昭
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    # of Collaborated Products: 2 results
  • 4.  川西 邦夫
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    # of Collaborated Products: 1 results
  • 5.  及川 大輔
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 6.  高田 英俊
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    # of Collaborated Products: 1 results
  • 7.  OSHIMA JUNKO
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    # of Collaborated Products: 1 results
  • 8.  須佐 紘一郎
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 9.  金崎 啓造
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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