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SHONO Akemi  庄野 朱美

ORCIDConnect your ORCID iD *help
… Alternative Names

庄野 朱美  シヨウノ アケミ

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Researcher Number 10535066
Other IDs
Affiliation (based on the past Project Information) *help 2017 – 2021: 関西医科大学, 医学部, 研究員
2017: 神戸大学, 大学院医学研究科, 医学研究員
2016: 神戸大学, 医学研究科, 学術研究員
2015: 神戸大学, 医学(系)研究科(研究院), 研究員
2014: 神戸大学, 医学(系)研究科(研究院), その他 … More
2014: 神戸大学, 医学(系)研究科(研究院), 技術補佐員
2014: 神戸大学, 大学院医学研究科・内科系講座小児科, 技術補佐員
2013: 神戸大学, 医学(系)研究科(研究院), 研究員
2011: 京都大学, 研究員
2010: 京都大学, iPS細胞研究所, 特定研究員 Less
Review Section/Research Field
Principal Investigator
Pediatrics / Basic Section 56050:Otorhinolaryngology-related / Kidney internal medicine
Except Principal Investigator
Kidney internal medicine / Pediatrics
Keywords
Principal Investigator
咽喉頭粘膜上皮 / 分子マーカー / 咽喉頭粘膜上皮細胞 / 成体幹細胞 / 遺伝子 / 遺伝学 / SRNS / ポドサイト / 免疫因子 / ステロイド抵抗性 … More / ネフローゼ症候群 / 疾患パネル解析 / 次世代シークエンサー / ステロイド抵抗性ネフローゼ症候群 / 遺伝性腎疾患 / iPS細胞 / 腎系譜分化誘導 / 分化誘導 / 腎再生 / 次世代シークエンサー解析 / 網羅的遺伝子解析 / 腎系譜 / 腎発生 / CAKUT / 腎尿路奇形 / 腎臓系譜 / 腎臓発生 / マイクロアレイ / 特異的発現遺伝子 / 遺伝子発現解析 / Osr1(Odd-skipped related 1) / 中胚葉 / 腎臓再生 … More
Except Principal Investigator
次世代シークエンサー / エクソンスキッピング / 遺伝子 / 医療・福祉 / アンチセンスオリゴヌクレオチド / 分子治療 / アルポート症候群 / 嚢胞性線維症 / 遺伝性クロル下痢症 / 遺伝性高カルシウム尿性低カルシウム血症 / ターゲットシークエンス / 遺伝性塩類喪失性尿細管機能異常症 / 遺伝性低マグネシウム血症 / Copy number variation / 遺伝性尿細管機能異常症 / ギッテルマン症候群 / バーター症候群 / 塩類喪失性尿細管機能異常症 / NPHP-RC / 遺伝カウンセリング / 繊毛病 / 先天性腎尿路異常 / ネフロン癆 / 嚢胞性腎疾患 / 小児CKD / CAKUT / 小児腎臓病学 / ナンセンスリードスルー / ナンセンスリードスルー療法 / 遺伝性腎疾患 Less
  • Research Projects

    (8 results)
  • Research Products

    (57 results)
  • Co-Researchers

    (9 People)
  •  咽喉頭粘膜上皮における新規成体幹細胞の探索と細胞の多様性の解明Principal Investigator

    • Principal Investigator
      庄野 朱美
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56050:Otorhinolaryngology-related
    • Research Institution
      Kansai Medical University
  •  Establishment of the targeted NGS panel and the associated immune factors-test system for SRNSPrincipal Investigator

    • Principal Investigator
      SHONO Akemi
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kansai Medical University
      Kobe University
  •  Identification of new causative gene for congenital anomalies of the kidney and urinary tract (CAKUT) and elucidation for pathology of CAKUT by iPS cells

    • Principal Investigator
      Morisada Naoya
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Kidney internal medicine
    • Research Institution
      Kobe University
  •  The onset mechanisms for inherited salt-losing tubulopathies

    • Principal Investigator
      Nozu Kandai
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  Development of molecular therapy for Alport syndrome

    • Principal Investigator
      Iijima Kazumoto
    • Project Period (FY)
      2014 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Kidney internal medicine
    • Research Institution
      Kobe University
  •  Genome-wide approaches for CAKUT to understand molecular mechanisms of human renal developmentPrincipal Investigator

    • Principal Investigator
      SHONO Akemi
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  Nonsense read-through therapy for Aport syndrome

    • Principal Investigator
      KANDAI Nozu
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Research Activity Start-up
    • Research Field
      Pediatrics
    • Research Institution
      Kobe University
  •  腎臓再生を目指した中胚葉特異的遺伝子群の網羅的解析Principal Investigator

    • Principal Investigator
      庄野 朱美
    • Project Period (FY)
      2010 – 2011
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Kidney internal medicine
    • Research Institution
      Kyoto University

All 2021 2020 2019 2018 2017 2016 2015 2014 Other

All Journal Article Presentation Patent

  • [Journal Article] D-karyo-A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism.2021

    • Author(s)
      Shimokawa O, Takeda M, Ohashi H, Shono-Ota A, Kumagai M, Matsushika R, Masuda C, Uenishi K, Kimata Pooh R.
    • Journal Title

      Diagnostics (Basel)

      Volume: 11(2) Issue: 2 Pages: 337-337

    • DOI

      10.3390/diagnostics11020337

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09921
  • [Journal Article] Development of an Exon Skipping Therapy for X-linked Alport Syndrome With Truncating Variants in COL4A5.2020

    • Author(s)
      Yamamura T, Horinouchi T, Adachi T, Terakawa M, Takaoka Y, Omachi K, Takasato M, Takaishi K, Shoji T, Onishi Y, Kanazawa Y, Koizumi M, Tomono Y, Sugano S, Shono A, Minamikawa S, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Kamura M, Harita Y, Miura K, Kanda S, Morisada N, and 6 others.
    • Journal Title

      Nat Commun .

      Volume: 11(1) Issue: 1 Pages: 2777-2777

    • DOI

      10.1038/s41467-020-16605-x

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K09921, KAKENHI-PROJECT-18K07887, KAKENHI-PROJECT-19K08726, KAKENHI-PROJECT-19K12202, KAKENHI-PROJECT-20K08584, KAKENHI-PROJECT-19H03379, KAKENHI-PROJECT-18K07414, KAKENHI-PROJECT-18K08243
  • [Journal Article] Clinical spectrum of male patients with OFD1 mutations.2019

    • Author(s)
      Sakakibara N, Morisada N, Nozu K, Nagatani K, Ohta T, Shimizu J, Wada T, Shima Y, Yamamura T, Minamikawa S, Fujimura J, Horinouchi T, Nagano C, Shono A, Ye MJ, Nozu Y, Nakanishi K, Iijima K.
    • Journal Title

      J Hum Genet.

      Volume: 64 Issue: 1 Pages: 3-9

    • DOI

      10.1038/s10038-018-0532-x

    • NAID

      120006888530

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-15K09694, KAKENHI-PROJECT-16K10066
  • [Journal Article] Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome2019

    • Author(s)
      Rossanti Rini、Shono Akemi、Miura Kenichiro、Hattori Motoshi、Yamamura Tomohiko、Nakanishi Keita、Minamikawa Shogo、Fujimura Junya、Horinouchi Tomoko、Nagano China、Sakakibara Nana、Kaito Hiroshi、Nagase Hiroaki、Morisada Naoya、Asanuma Katsuhiko、Matsuo Masafumi、Nozu Kandai、Iijima Kazumoto
    • Journal Title

      Journal of Human Genetics

      Volume: 64 Issue: 7 Pages: 673-679

    • DOI

      10.1038/s10038-019-0606-4

    • NAID

      120006653286

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-19K09921, KAKENHI-PROJECT-18KK0244, KAKENHI-PROJECT-18K15712, KAKENHI-PROJECT-18H02823
  • [Journal Article] Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.2018

    • Author(s)
      Watanabe S, Aizawa T, Tsukaguchi H, Tsugawa K, Tsuruga K, Shono A, Nozu K, Iijima K, Joh K, Tanaka H.
    • Journal Title

      Nephrology (Carlton)

      Volume: - Issue: 7 Pages: 697-702

    • DOI

      10.1111/nep.13244

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K10055, KAKENHI-PROJECT-16K10066, KAKENHI-PROJECT-17K09719, KAKENHI-PROJECT-18KK0244
  • [Journal Article] Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.2018

    • Author(s)
      Jia X, Horinouchi T, Hitomi Y, Shono A, Khor SS, Omae Y, Kojima K, Kawai Y, Nagasaki M, Kaku Y, Okamoto T, Ohwada Y, Ohta K, Okuda Y, Fujimaru R, Hatae K, Kumagai N, Sawanobori E, Nakazato H, Ohtsuka Y, Nakanishi K, Shima Y, Tanaka R, Ashida A, Kamei K, Ishikura K, Nozu K, Tokunaga K, Iijima K
    • Journal Title

      J Am Soc Nephrol.

      Volume: 29 Issue: 8 Pages: 2189-2199

    • DOI

      10.1681/asn.2017080859

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-18KK0244, KAKENHI-PLANNED-18H05511, KAKENHI-PROJECT-15K09694, KAKENHI-PROJECT-16K10066
  • [Journal Article] Natural History and Genotype?Phenotype Correlation in Female X-Linked Alport Syndrome2017

    • Author(s)
      Yamamura Tomohiko、Nozu Kandai、Fu Xue Jun、Nozu Yoshimi、Ye Ming Juan、Shono Akemi、Yamanouchi Satoko、Minamikawa Shogo、Morisada Naoya、Nakanishi Koichi、Shima Yuko、Yoshikawa Norishige、Ninchoji Takeshi、Morioka Ichiro、Kaito Hiroshi、Iijima Kazumoto
    • Journal Title

      Kidney Int Rep.

      Volume: 2 Issue: 5 Pages: 850-855

    • DOI

      10.1016/j.ekir.2017.04.011

    • NAID

      120006373817

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09694, KAKENHI-PROJECT-16K10066, KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-17H04189, KAKENHI-PROJECT-15K09695, KAKENHI-PROJECT-16K19642
  • [Journal Article] Involvement of WNT Signaling in the Regulation of Gestational Age-Dependent Umbilical Cord-Derived Mesenchymal Stem Cell Proliferation.2017

    • Author(s)
      7: Iwatani S, Shono A, Yoshida M, Yamana K, Thwin KKM, Kuroda J, Kurokawa D, Koda T, Nishida K, Ikuta T, Fujioka K, Mizobuchi M, Taniguchi-Ikeda M, Morioka I, Iijima K, Nishimura N.
    • Journal Title

      Stem Cells Int.

      Volume: - Pages: 1-16

    • DOI

      10.1155/2017/8749751

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10066, KAKENHI-PROJECT-17K10110, KAKENHI-PROJECT-16H06971
  • [Journal Article] Cryptic exon activation in SLC12A3 in Gitelman syndrome.2017

    • Author(s)
      Nozu K, Nozu Y, Nakanishi K, Konomoto T, Horinouchi T, Shono A, Morisada N, Minamikawa S, Yamamura T, Fujimura J, Nakanishi K, Ninchoji T, Kaito H, Morioka I, Taniguchi-Ikeda M, Vorechovsky I, Iijima K
    • Journal Title

      J Hum Genet.

      Volume: 62 Issue: 2 Pages: 335-337

    • DOI

      10.1038/jhg.2016.129

    • NAID

      40021065185

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-26461632, KAKENHI-PROJECT-15K09261, KAKENHI-PROJECT-15K09691, KAKENHI-PROJECT-16K10066
  • [Journal Article] Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells.2017

    • Author(s)
      Iwatani S, Harahap NIF, Nurputra DK, Tairaku S, Shono A, Kurokawa D, Yamana K, Thwin KKM, Yoshida M, Mizobuchi M, Koda T, Fujioka K, Taniguchi-Ikeda M, Yamada H, Morioka I, Iijima K, Nishio H, Nishimura N.
    • Journal Title

      Front Pediatr.

      Volume: - Pages: 194-194

    • DOI

      10.3389/fped.2017.00194

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10066, KAKENHI-PROJECT-17K10110, KAKENHI-PROJECT-16H06971
  • [Journal Article] Natural history and genotype-phenotype correlation in female X-linked Alport syndrome.2017

    • Author(s)
      Yamamura T, Nozu K, Fu XJ, Nozu Y, Ye MJ, Shono A, Yamanouchi S, Minamikawa S, Morisada N, Nakanishi K, Shima Y, Yoshikawa N, Ninchoji T, Morioka I, Kaito H, Iijima K
    • Journal Title

      Kideny Int Rep.

      Volume: 印刷中

    • NAID

      120006373817

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293203
  • [Journal Article] ETV6-ABL1 fusion combined with monosomy 7 in childhood B-precursor acute lymphoblastic leukemia. Int J Hematol.2017

    • Author(s)
      Uemura S, Nishimura N, Hasegawa D, Shono A, Sakaguchi K, Matsumoto H, Nakamachi Y, Saegusa J, Yokoi T, Tahara T, Tamura A, Yamamoto N, Saito A, Kozaki A, Kishimoto K, Ishida T, Nino N, Takafuji S, Mori T, Iijima K, Kosaka Y.
    • Journal Title

      Int J Hematol.

      Volume: 印刷中 Issue: 5 Pages: 604-609

    • DOI

      10.1007/s12185-017-2371-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Journal Article] Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.2016

    • Author(s)
      Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K
    • Journal Title

      Clin J Am Soc Nephrol.

      Volume: 11 Issue: 8 Pages: 1441-1449

    • DOI

      10.2215/cjn.01000116

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-15K09261, KAKENHI-PROJECT-15K09682, KAKENHI-PROJECT-15K09695, KAKENHI-PROJECT-16K10066
  • [Journal Article] 次世代シークエンサーを用いた先天性腎尿路奇形(CAKUT)の原因遺伝子解析2016

    • Author(s)
      森貞 直哉, 庄野 朱美, 野津 寛大, 叶 明娟, 神田 祥一郎, 井藤 奈央子, 亀井 宏一, 伊藤 秀一, 山本 勝輔, 里村 憲一, 田中 亮二郎, 西尾 久英, 飯島 一誠
    • Journal Title

      発達腎研究会誌

      Volume: 24(1) Pages: 13-15

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Journal Article] 次世代シークエンサーを用いた先天性腎尿路奇形(CAKUT)の原因遺伝子解析2016

    • Author(s)
      森貞 直哉, 庄野 朱美, 野津 寛大, 叶 明娟, 神田 祥一郎, 井藤 奈央子, 亀井 宏一, 伊藤 秀一, 山本 勝輔, 里村 憲一, 田中 亮二郎, 西尾 久英, 飯島 一誠
    • Journal Title

      発達腎研究会誌

      Volume: 24 Pages: 13-15

    • Data Source
      KAKENHI-PROJECT-15K09261
  • [Journal Article] Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics2016

    • Author(s)
      Matsunoshita N, Nozu K, Shono A, Nozu Y, Fu XJ, Morisada N, Kamiyoshi N, Ohtsubo H, Ninchoji T, Minamikawa S, Yamamura T, Nakanishi K, Yoshikawa N, Shima Y, Kaito H, Iijima K
    • Journal Title

      Genetics in Medicine

      Volume: 18 Issue: 2 Pages: 180-188

    • DOI

      10.1038/gim.2015.56

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-15K09691, KAKENHI-PROJECT-15K09694, KAKENHI-PROJECT-26461618, KAKENHI-PROJECT-26860800, KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-15K09695
  • [Journal Article] Female X-linked Alport syndrome with somatic mosaicism.2016

    • Author(s)
      Yokota K, Nozu K, Minamikawa S, Yamamura T, Nakanishi K, Kaneda H, Hamada R, Nozu Y, Shono A, Ninchoji T, Morisada N, Ishimori S, Fujimura J, Horinouchi T, Kaito H, Nakanishi K, Morioka I, Taniguchi-Ikeda M, Iijima K
    • Journal Title

      Clin Exp Nephrol.

      Volume: Epub 2016 Oct 31.

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26293203
  • [Journal Article] Genetic, clinical and pathological backgrounds in autosomal dominant Alport syndrome.2016

    • Author(s)
      Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Kaito H, Morioka I, Nakanishi K, Yoshikawa N, Iijima K.
    • Journal Title

      Clin J Am Soc Nephrol.

      Volume: 11

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26293203
  • [Journal Article] Female X-linked Alport syndrome with somatic mosaicism2016

    • Author(s)
      Yokota K, Nozu K, Minamikawa S, Yamamura T, Nakanishi K, Kaneda H, Hamada R, Nozu Y, Shono A, Ninchoji T, Morisada N, Ishimori S, Fujimura J, Horinouchi T, Kaito H, Nakanishi K, Morioka I, Taniguchi-Ikeda M, Iijima K.
    • Journal Title

      Clin Exp Nephrol.

      Volume: 印刷中 Issue: 5 Pages: 877-883

    • DOI

      10.1007/s10157-016-1352-y

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09261, KAKENHI-PROJECT-16K10066, KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-17H04189, KAKENHI-PROJECT-16K19642
  • [Journal Article] X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.2016

    • Author(s)
      Fu XJ, Nozu K, Eguchi A, Nozu Y, Morisada N, Shono A, Taniguchi-Ikeda M, Shima Y, Nakanishi K, Vorechovsky I, Iijima K.
    • Journal Title

      Clin Exp Nephrol.

      Volume: 20(5) Pages: 699-702

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Journal Article] Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits.2016

    • Author(s)
      Ohtsubo H, Okada T, Nozu K, Takaoka Y, Shono A, Asanuma K, Zhang L, Nakanishi K, Taniguchi-Ikeda M, Kaito H, Iijima K, Nakamura SI
    • Journal Title

      Pediatr Nephrol.

      Volume: 58 Issue: 9 Pages: 1459-1467

    • DOI

      10.1007/s00467-016-3368-7

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-16K10066
  • [Journal Article] Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.2015

    • Author(s)
      Matsunoshita N, Nozu K, Shono A, Nozu Y, Fu XJ, Morisada N, Kamiyoshi N, Ohtsubo H, Ninchoji T, Minamikawa S, Yamamura T, Nakanishi K, Yoshikawa N, Shima Y, Kaito H, Iijima K.
    • Journal Title

      Genetics in Medicine

      Volume: -

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25860862
  • [Journal Article] Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome2015

    • Author(s)
      Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N
    • Journal Title

      Am J Hum Genet

      Volume: 97(4) Issue: 4 Pages: 555-566

    • DOI

      10.1016/j.ajhg.2015.08.013

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-26461246, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-26293203
  • [Journal Article] X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.2015

    • Author(s)
      Fu XJ, Nozu K, Eguchi A, Nozu Y, Morisada N, Shono A, Taniguchi-Ikeda M, Shima Y, Nakanishi K, Vorechovsky I, Iijima K
    • Journal Title

      Clin Exp Nephrol.

      Volume: 20 Issue: 5 Pages: 699-702

    • DOI

      10.1007/s10157-015-1197-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-15K09261
  • [Patent] アルポート症候群治療薬2017

    • Inventor(s)
      飯島、野津、庄野、小泉、大西、高石、足立
    • Industrial Property Rights Holder
      飯島、野津、庄野、小泉、大西、高石、足立
    • Industrial Property Rights Type
      特許
    • Filing Date
      2017
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Patent] アルポート症候群治療薬2017

    • Inventor(s)
      飯島、野津、庄野、小泉、大西、高石、足立
    • Industrial Property Rights Holder
      飯島、野津、庄野、小泉、大西、高石、足立
    • Industrial Property Rights Type
      特許
    • Filing Date
      2017
    • Overseas
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] Establishment of a comprehensive diagnostic method using next generation sequencer for the Alport syndrome2017

    • Author(s)
      Yamamura T, Nozu K, Fujimura J, Horinouchi T, Nakanishi K, Manamikawa S, Shono A, Ninchoji T, Kaito H, Nakanishi K, Iijima K
    • Organizer
      第52回日本小児腎臓病学会 東京
    • Data Source
      KAKENHI-PROJECT-26293203
  • [Presentation] A comprehensive diagnosis by targeted sequencing for clinically suspectsd alport syndrome patients in Japan2017

    • Author(s)
      Yamamura T, Nozu K, Fujimura J, Horinouchi T, Nakanishi K, Minamikawa S, Shono A, Ninchoji T, Kaito H, Shima Y, Nakanishi K, Iijima K.
    • Organizer
      Asian Congress of Pediatric Nephrology 2017 & 39th Malaysian Pediatric Association Annual Congress, Kuala Lumpur, Malaysia
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293203
  • [Presentation] ブレオマイシン誘発肺障害モデルラットにおける臍帯由来間葉系幹細胞の効果2017

    • Author(s)
      山名 啓司, 岩谷 壮太, 黒川 大輔, Kyae Mon Thwin Khin, 西田 浩輔, 西山 将広, 藤岡 一路, 庄野 朱美, 生田 寿彦, 吉田 牧子, 溝渕 雅巳, 森岡 一朗, 飯島 一誠, 西村 範行
    • Organizer
      第16回日本再生医療学会総会
    • Place of Presentation
      仙台国際センター(宮城県仙台市)
    • Year and Date
      2017-03-07
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] NGSターゲット遺伝子シークエンスパネルによるCAKUTおよびNPHの包括的原因遺伝子解析2017

    • Author(s)
      森貞直哉、庄野朱美、野津寛大、忍頂寺毅史、田中亮二郎、飯島一誠
    • Organizer
      第60回日本腎臓学会学術総会
    • Data Source
      KAKENHI-PROJECT-15K09261
  • [Presentation] エクソンスキッピング療法によるアルポート症候群特異的治療法の開発2017

    • Author(s)
      庄野朱美, 野津寛大, 小泉誠, 大西朗之, 高石巨澄, 山村智彦, 南川将吾, 飯島一誠
    • Organizer
      第52 回日本小児腎臓病学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] OFD1ヘミ接合性変異を認めたネフロン癆関連シリオパチーの1男児例2017

    • Author(s)
      森貞直哉、清水順也、庄野朱美、野津寛大、飯島一誠
    • Organizer
      第271回 日本小児科学会兵庫県地方会
    • Data Source
      KAKENHI-PROJECT-15K09261
  • [Presentation] NGSターゲット遺伝子シークエンスパネルによるCAKUTおよびNPHの包括的原因遺伝子解析2017

    • Author(s)
      森貞直哉, 庄野朱美, 野津寛大, 忍頂寺毅史, 叶明娟, 井藤奈央子, 神田祥一郎, 亀井宏一, 石倉健司, 伊藤秀一, 山本勝輔, 塚口裕康, 里村憲一, 田中亮二郎, 飯島一誠
    • Organizer
      第52 回日本小児腎臓病学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] Comprehensive analysis using target sequencing panel for congenital anomalies of the kidney and urinary tract and nephronophthisis in Japan2017

    • Author(s)
      Naoya Morisada, Akemi Shono, Kandai Nozu, Ryojiro Tanaka, Kazumoto Iijima
    • Organizer
      American society of Human Genetics 2017
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09261
  • [Presentation] minigeneを用いた遺伝性腎疾患におけるpathogenic splicing variantの同定2017

    • Author(s)
      3.山村智彦, 野津寛大, 久富隆太郎, 上田博章, 藤丸李可, 藤村順也, 城之内智子, 中西啓太, 南川将吾, 庄野朱美, 忍頂寺毅史, 貝藤裕史, 中西浩一, 飯島一誠
    • Organizer
      第52 回日本小児腎臓病学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] エクソンスキッピング療法によるアルポート症候群特異的療法治療法の開発2017

    • Author(s)
      庄野朱美、野津寛大、小泉 誠、大西朗之、高石巨澄、山村智彦、南川将吾、飯島一誠
    • Organizer
      第52回日本小児腎臓病学会 東京
    • Data Source
      KAKENHI-PROJECT-26293203
  • [Presentation] 次世代シークエンサーを用いたAlport症候群の網羅的診断法の確立2017

    • Author(s)
      山村智彦、野津寛大、藤村順也、堀之内智子、中西啓太、南川将吾、庄野朱美、忍頂寺毅史、貝藤裕史、中西浩一、飯島一誠
    • Organizer
      第60回日本腎臓学会 仙台
    • Data Source
      KAKENHI-PROJECT-26293203
  • [Presentation] 早産児の臍帯由来間葉系幹細胞の増殖におけるWNTシグナル経路の役割2017

    • Author(s)
      岩谷 壮太, 庄野 朱美, 山名 啓司, Khin Kyae Mon Thwin, 黒川 大輔, 西田 浩輔, 西山 将広, 藤岡 一路, 生田 寿彦, 吉田 牧子, 溝渕 雅巳, 森岡 一朗, 飯島 一誠, 西村 範行
    • Organizer
      第16回日本再生医療学会総会
    • Place of Presentation
      仙台国際センター(宮城県仙台市)
    • Year and Date
      2017-03-07
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] NGSターゲット遺伝子シークエンスパネルによるCAKUTおよびNPHの包括的原因遺伝子解析2017

    • Author(s)
      森貞直哉、庄野朱美、野津寛大、忍頂寺毅史、叶 明娟、井藤奈央子、神田祥一郎、亀井宏一、石倉健司、伊藤秀一、山本勝輔、塚口裕康、里村憲一、田中亮二郎、飯島一誠
    • Organizer
      第52回日本小児腎臓病学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09261
  • [Presentation] 原因遺伝子が同定された稀少ネフロン癆関連シリオパチー症例の検討2017

    • Author(s)
      森貞直哉、叶 明娟、庄野朱美、野津寛大、飯島一誠
    • Organizer
      第62回日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-15K09261
  • [Presentation] 小児早期発症ステロイド抵抗性ネフローゼ症候群におけるNUP107変異の同定2016

    • Author(s)
      塚口裕康, 三宅紀子, 輿水江里子, 庄野朱美, 野津寛大, 秋岡祐子, 服部元史, 香美祥二,飯島一誠, 松本直通
    • Organizer
      第59回日本腎臓学会学術総会
    • Place of Presentation
      パシフィコ横浜(神奈川横浜市)
    • Year and Date
      2016-06-17
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] Rare nephronophthisis related ciliopathy identified by next generation sequencing in ten non-consanguineous families2016

    • Author(s)
      Naoya Morisada, Akemi Shono, Kandai Nozu, Takeshi Ninchoji, Koji Nagatani, Toshiyuki Ohta, Junya Shimizu, Takahisa Yoshikawa, Ken Saida, Shingo Ishimori, Masato Yasui, China Nagano, Koichi Kamei, Kenji Ishikura, Shuichi Ito, Ryojiro Tanaka, Kazumoto Iijima
    • Organizer
      American Society of Human Genetics 2016
    • Place of Presentation
      Vancouver (Canada)
    • Year and Date
      2016-10-18
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09261
  • [Presentation] Biallelic NUP107 Mutations Cause Early Childhood-Onset Steroid Resistant Nephrotic Syndrome.2016

    • Author(s)
      Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Cheong HI, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N.
    • Organizer
      The 13th International Congress of Human Genetics 2016
    • Place of Presentation
      国立京都国際会館(京都府京都市)
    • Year and Date
      2016-04-03
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] The comprehensive genetic analysis of congenital anomalies of the kidney and urinary tract (CAKUT) in Japan2016

    • Author(s)
      Naoya Morisada, Akemi Shono, Mariko Taniguchi-Ikeda, Kandai Nozu, Koichi Kamei, Kenji Ishikura, Shuichi Ito, Ryojiro Tanaka, Hisahide Nishio, Kazumoto Iijima
    • Organizer
      The 13th International Congress of Human GeneticsKyoto
    • Place of Presentation
      Kyoto (Japan)
    • Year and Date
      2016-04-03
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09261
  • [Presentation] The comprehensive genetic analysis of congenital anomalies of the kidney and urinary tract (CAKUT) in Japan.2016

    • Author(s)
      Morisada N, Shono A, Taniguchi-Ikeda M, Nozu K, Kamei K, Ishikura K, Ito S, Tanaka R, Nishio H, Iijima K.
    • Organizer
      The 13th International Congress of Human Genetics 2016
    • Place of Presentation
      国立京都国際会館(京都府京都市)
    • Year and Date
      2016-04-03
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] Rare nephronophthisis related ciliopathy identified by next generation sequencing in ten non-consanguineous families.2016

    • Author(s)
      Morisada N, Shono A, Nozu K, Ninchoji T, Nagatani K, Ohta T, Shimizu J, Yoshikawa T, Saida K, Ishimori S, Yasui M, Nagano C, Kamei K, Ishikura K, Ito S, Tanaka R, Iijima K.
    • Organizer
      American Society of Human Genetics 2016 Annual Meeting
    • Place of Presentation
      Vancouver (Canada)
    • Year and Date
      2016-10-16
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] 両アレル性NUP107変異は早期小児期発症ステロイド抵抗性ネフローゼ症候群を引き起こす2016

    • Author(s)
      三宅紀子, 塚口裕康, 輿水江里子, 庄野朱美, 野津寛大, 秋岡祐子, 服部元史, 飯島一誠, 松本直通
    • Organizer
      第119回日本小児科学会学術集会
    • Place of Presentation
      ロイトン札幌/さっぽろ芸術文化の館(北海道札幌市)
    • Year and Date
      2016-05-13
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] Biallelic NUP107 mutations in early childhood-onset steroid resistant nephrotic syndrome.2016

    • Author(s)
      Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsumoto N.
    • Organizer
      American Society of Human Genetics 2016 Annual Meeting
    • Place of Presentation
      Vancouver (Canada)
    • Year and Date
      2016-10-16
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] 次世代シークエンサーによる稀少ネフロン癆関連シリオパチーの原因遺伝子解析2016

    • Author(s)
      森貞直哉,野津寛大,庄野朱美,忍頂寺毅史,田中亮二郎,飯島一誠
    • Organizer
      第39回日本小児遺伝学会学術集会
    • Place of Presentation
      慶應義塾大学三田北館ホールと会議室(東京都港区)
    • Year and Date
      2016-12-09
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] 次世代シークエンサーによる稀少ネフロン癆関連シリオパチーの原因遺伝子解析2016

    • Author(s)
      森貞直哉,野津寛大,庄野朱美,忍頂寺毅史,田中亮二郎,飯島一誠
    • Organizer
      第39回日本小児遺伝学会
    • Place of Presentation
      慶應義塾大学三田北館ホールと会議室(東京)
    • Year and Date
      2016-12-09
    • Data Source
      KAKENHI-PROJECT-15K09261
  • [Presentation] 遺伝子から見たネフローゼ 遺伝子異常から見た特発性ネフローゼ症候群発症機序-ステロイド感受性ネフローゼも含めて-2016

    • Author(s)
      庄野朱美
    • Organizer
      第51回日本小児腎臓病学会学術集会
    • Place of Presentation
      ウインクあいち(愛知県名古屋市)
    • Year and Date
      2016-07-07
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K10066
  • [Presentation] CAKUT及び原因不明の小児期発症慢性腎機能障害患者への包括的原因遺伝子解析2016

    • Author(s)
      森貞 直哉, 野津 寛大, 庄野 朱美, 忍頂寺 毅史, 叶 明娟, 井藤 奈央子, 神田 祥一郎, 亀井 宏一, 石倉 健司, 伊藤 秀一, 山本 勝輔, 里村 憲一, 服部 元史, 田中 亮二郎, 西尾 久英, 飯島 一誠
    • Organizer
      第51回日本小児腎臓病学会学術集会
    • Place of Presentation
      ウインクあいち(愛知県名古屋市)
    • Year and Date
      2016-07-07
    • Data Source
      KAKENHI-PROJECT-15K09261
  • [Presentation] Target gene sequencing panelを用いた先天性腎尿路奇形症候群(CAKUT)の網羅的遺伝子解析2015

    • Author(s)
      森貞直哉、庄野朱美、野津寛大、叶明娟、神田祥一郎、井藤奈央子、 亀井宏一、伊藤秀一、山本勝輔、里村憲一、西尾久英、飯島一誠
    • Organizer
      第60回日本人類遺伝学会
    • Place of Presentation
      東京都
    • Year and Date
      2015-10-14
    • Data Source
      KAKENHI-PROJECT-15K09261
  • [Presentation] Comprehensive Approach to Understand Human Renal Development Based on the Identification of Responsible Genes for CAKUT.2015

    • Author(s)
      Shono A, Morisada N, Nozu K, Iijima K.
    • Organizer
      Kidney Week 2015
    • Place of Presentation
      San Diego Convention Center (San Diego, U.S.A.)
    • Year and Date
      2015-11-03
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293203
  • [Presentation] 次世代シークエンサーによるヒトCAKUTの原因遺伝子解析2014

    • Author(s)
      森貞直哉、庄野朱美、忍頂寺毅史、貝藤裕史、池田真理子、野津寛大、亀井宏一、伊藤秀一、田中亮二郎、飯島一誠
    • Organizer
      第37回日本小児遺伝学会学術集会
    • Place of Presentation
      名古屋市立大学桜山キャンパス(愛知県)
    • Data Source
      KAKENHI-PROJECT-25860862
  • [Presentation] The comprehensive genetic analysis of congenital anomalies of kidney and urinary tract (CAKUT) in Japan

    • Author(s)
      Morisada N, Taniguchi-Ikeda M, Nozu K, Shono A, Kamei K, Ito S, Tanaka R, Iijima K
    • Organizer
      The American Society of Human Genetics Annual Meeting
    • Place of Presentation
      San Diego(USA)
    • Year and Date
      2014-10-18 – 2014-10-22
    • Data Source
      KAKENHI-PROJECT-25860862
  • [Presentation] 本邦におけるCAKUT包括的原因遺伝子解析システムの構築

    • Author(s)
      森貞直哉、庄野朱美、忍頂寺毅史、貝藤裕史、野津寛大、 亀井宏一、伊藤秀一、田中亮二郎、飯島一誠
    • Organizer
      第57回日本腎臓学会学術総会
    • Place of Presentation
      パシフィコ横浜(神奈川県)
    • Year and Date
      2014-07-04 – 2014-07-06
    • Data Source
      KAKENHI-PROJECT-25860862
  • 1.  IIJIMA Kazumoto (00240854)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 25 results
  • 2.  KANDAI Nozu (70362796)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 13 results
  • 3.  Morisada Naoya (00389446)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 13 results
  • 4.  YOSHIKAWA Norishige
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 5.  NAKANISHI Koichi
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 6.  SHIMA Yuko
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 7.  TANAKA Hiroshi
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 8.  SHIINA Masaaki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 9.  緒方 一博
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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