Development of molecular therapy for Alport syndrome

• Project/Area Number: 26293203
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Kidney internal medicine
• Research Institution: Kobe University
• Principal Investigator: Iijima Kazumoto 神戸大学, 医学研究科, 教授 (00240854)
• Co-Investigator(Kenkyū-buntansha): 野津 寛大 神戸大学, 医学部附属病院, 助教 (70362796)
• Co-Investigator(Renkei-kenkyūsha): Syono Akemi 神戸大学, 大学院医学研究科, 医学研究員 (10535066)
• Project Period (FY): 2014-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥16,770,000 (Direct Cost: ¥12,900,000、Indirect Cost: ¥3,870,000); Fiscal Year 2016: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000); Fiscal Year 2015: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000); Fiscal Year 2014: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000)
• Keywords: アルポート症候群 / 分子治療 / アンチセンスオリゴヌクレオチド / エクソンスキッピング / 医療・福祉 / 遺伝子

Outline of Final Research Achievements

The purpose of this study is to prove the basic concept of the exon-skipping therapy, a molecular therapy, for male patients with X-linked Alport syndrome, the most popular hereditary nephritis with poor prognosis. The exon-skipping by antisense oligonucleotides will convert severe mutations to milder ones. In this study, we found that antisense oligonucleotides actually induced the exon-skipping in cultured cells obtained from patients and in model mice having the same mutation in the patient. We will apply this therapy to patients with Alport syndrome in the future.

Research Products

• [Int'l Joint Research] University of Southampton(United Kingdom)
• [Journal Article] Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases (2018)
  • Author(s): Nagano C, Nozu K, Morisada N, Yazawa M, Ichikawa D, Numasawa K, Kourakata H, Matsumura C, Tazoe S, Tanaka R, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Sakakibara N, Nozu Y, Ye MJ, Kaito H, Iijima K
  • Journal Title: Clinical and Experimental Nephrology Volume: 印刷中 Issue: 4 Pages: 881-888
  • DOI: 10.1007/s10157-018-1534-x
  • NAID: 120006624236
  • Peer Reviewed
• [Journal Article] Natural History and Genotype?Phenotype Correlation in Female X-Linked Alport Syndrome (2017)
  • 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
• [Journal Article] A case of mild phenotype Alport syndrome caused by COL4A3 mutations (2017)
  • Author(s): Kamijo Masafumi、Kitamura Mineaki、Muta Kumiko、Uramatsu Tadashi、Obata Yoko、Nozu Kandai、Kaito Hiroshi、Iijima Kazumoto、Mukae Hiroshi、Nishino Tomoya
  • Journal Title: CEN Case Reports Volume: 6 Issue: 2 Pages: 189-193
  • DOI: 10.1007/s13730-017-0273-2
  • Peer Reviewed
• [Journal Article] Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically (2017)
  • Author(s): Imafuku Aya、Nozu Kandai、Sawa Naoki、Hasegawa Eiko、Hiramatsu Rikako、Kawada Masahiro、Hoshino Junichi、Tanaka Kiho、Ishii Yasuo、Takaichi Kenmei、Fujii Takeshi、Ohashi Kenichi、Iijima Kazumoto、Ubara Yoshifumi
  • Journal Title: Nephrology Volume: 印刷中 Issue: 10 Pages: 940-947
  • DOI: 10.1111/nep.13115
  • Peer Reviewed
• [Journal Article] Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. (2017)
  • Author(s): Nozu K, Minamikawa S, Yamada S, Oka M, Yanagita M, Morisada N, Fujinaga S, Nagano C, Gotoh Y, Takahashi E, Morishita T, Yamamura T, Ninchoji T, Kaito H, Morioka I, Nakanishi K, Vorechovsky I, Iijima K
  • Journal Title: J Hum Genet. Volume: Epub 2017 Mar 9. Issue: 7 Pages: 733-735
  • DOI: 10.1038/jhg.2017.28
  • Peer Reviewed / Int'l Joint Research
• [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
• [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
• [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: 印刷中 Issue: 5 Pages: 877-883
  • DOI: 10.1007/s10157-016-1352-y
  • Peer Reviewed / Open Access
• [Journal Article] Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome. (2016)
  • Author(s): Uchida N, Kumagai N, Nozu K, Fu XJ, Iijima K, Kondo Y, Kure S
  • Journal Title: Tohoku J Exp Med. Volume: 240 Pages: 251-257
  • NAID: 130005170640
  • Peer Reviewed
• [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
• [Journal Article] A Novel Mutation in a Japanese Family with X-linked Alport Syndrome. (2016)
  • Author(s): Abe Y, Iyoda M, Nozu K, Hibino S, Hihara K, Yamaguchi Y, Yamamura T, Minamikawa S, Iijima K, Shibata T, Itabashi K
  • Journal Title: Intern Med. Volume: 55 Pages: 2843-2847
  • NAID: 130005605859
  • Peer Reviewed
• [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
• [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
• [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
• [Journal Article] Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing. (2016)
  • Author(s): Yamamura T, Morisada N, Nozu K, Minamikawa S, Ishimori S, Toyoshima D, Ninchoji T, Yasui M, Taniguchi-Ikeda M, Morioka I, Nakanishi K, Nishio H, Iijima K.
  • Journal Title: Clin Exp Nephrol. Volume: 20 Issue: 1 Pages: 136-142
  • DOI: 10.1007/s10157-016-1256-x
  • Peer Reviewed
• [Journal Article] New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation (2016)
  • Author(s): Kanda S, Morisada N, Kaneko N, Yabuuchi T, Nawashiro Y, Tada N, Nishiyama K, Miyai T, Sugawara N, Ishizuka K, Chikamoto H, Akioka Y, Iijima K, Hattori M.
  • Journal Title: Pediatric Transplantation Volume: 20 Issue: 3 Pages: 467-471
  • DOI: 10.1111/petr.12690
  • Peer Reviewed
• [Journal Article] Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother. (2016)
  • Author(s): Taniguchi-Ikeda M, Takeshima Y, Lee T, Nishiyama M, Awano H, Yagi M, Unzaki A, Nozu K, Nishio H, Matsuo M, Kurahashi H, Toda T, Morioka I, Iijima K.
  • Journal Title: J Hum Genet. Volume: 61 Issue: 4 Pages: 351-355
  • DOI: 10.1038/jhg.2015.157
  • NAID: 40020802923
  • Peer Reviewed / Open Access
• [Journal Article] Combined Alport syndrome and Klinefelter syndrome. (2016)
  • Author(s): Nishida M, Hashimoto F, Kaito H, Nozu K, Iijima K, Asada D, Hamaoka K.
  • Journal Title: Pediatr Int. Volume: 58 Issue: 2 Pages: 152-155
  • DOI: 10.1111/ped.12743
  • Peer Reviewed
• [Journal Article] Insignificant impact of VUR on the progression of CKD in children with CAKUT. (2016)
  • Author(s): Ishikura K, Uemura O, Hamasaki Y, Nakai H, Ito S, Harada R, Hattori M, Ohashi Y, Tanaka R, Nakanishi K, Kaneko T, Iijima K, Honda M; Pediatric CKD Study Group in Japan in conjunction with the Committee of Measures for Pediatric CKD of the Japanese Society for Pediatric Nephrology
  • Journal Title: Pediatr Nephrol Volume: 31 Issue: 1 Pages: 105-112
  • DOI: 10.1007/s00467-015-3196-1
  • Peer Reviewed
• [Journal Article] Risk factors for relapse and long-term outcome in steroid-dependent nephrotic syndrome treated with rituximab. (2016)
  • Author(s): Kamei K, Ogura M, Sato M, Sako M, Iijima K, Ito S.
  • Journal Title: Pediatr Nephrol. Volume: 31 Issue: 1 Pages: 89-95
  • DOI: 10.1007/s00467-015-3197-0
  • Peer Reviewed
• [Journal Article] Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1. (2016)
  • Author(s): Kamiyoshi N, Nozu K, Urahama Y, Matsunoshita N, Yamamura T, Minamikawa S, Ninchoji T, Morisada N, Nakanishi K, Kaito H, Iijima K.
  • Journal Title: Clin Exp Nephrol. Volume: 20 Issue: 2 Pages: 253-257
  • DOI: 10.1007/s10157-015-1160-9
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome. (2016)
  • Author(s): Fu XJ, Nozu K, Kaito H, Ninchoji T, Morisada N, Nakanishi K, Yoshikawa N, Ohtsubo H, Matsunoshita N, Kamiyoshi N, Matsumura C, Takagi N, Maekawa K, Taniguchi-Ikeda M, Iijima K
  • Journal Title: Eur J Hum Genet Volume: 24 Issue: 3 Pages: 387-391
  • DOI: 10.1038/ejhg.2015.113
  • Peer Reviewed
• [Journal Article] Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics (2016)
  • 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
• [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
• [Journal Article] Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome (2015)
  • 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
• [Journal Article] Long-term outcome of childhood IgA nephropathy with minimal proteinuria. (2015)
  • Author(s): Higa A, Shima Y, Hama T, Sato M, Mukaiyama H, Togawa H, Tanaka R, Nozu K, Sako M, Iijima K, Nakanishi K, Yoshikawa N.
  • Journal Title: Pediatr Nephrol. Volume: 30(12) Issue: 12 Pages: 2121-7
  • DOI: 10.1007/s00467-015-3176-5
  • Peer Reviewed
• [Journal Article] Rituximab Treatment for Nephrotic Syndrome in Children. (2015)
  • Author(s): Iijima K, Sako M, Nozu K.
  • Journal Title: Curr Pediatr Rep. Volume: 3 Issue: 1 Pages: 71-77
  • DOI: 10.1007/s40124-014-0065-5
  • Peer Reviewed
• [Journal Article] Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY. (2014)
  • Author(s): Nozu K, Iijima K, Ohtsuka Y, Fu XJ, Kaito H, Nakanishi K, Vorechovsky I
  • Journal Title: Mol Genet Genomic Med Volume: 2 Issue: 5 Pages: 451-451
  • DOI: 10.1002/mgg3.89
  • Peer Reviewed / Open Access
• [Journal Article] X-Linked Alport Syndrome Caused by Splicing Mutations in COL4A5 (2014)
  • Author(s): Nozu, K. Vorechovsky, I. Kaito, H. Fu, X. J. Nakanishi, K. Hashimura, Y. Hashimoto, F. Kamei, K. Ito, S. Kaku, Y. Imasawa, T. Ushijima, K. Shimizu, J. Makita, Y. Konomoto, T. Yoshikawa, N. Iijima, K.
  • Journal Title: Clinical journal of the American Society of Nephrology : CJASN Volume: 9 Issue: 11 Pages: 1958-64
  • DOI: 10.2215/cjn.04140414
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain (2014)
  • Author(s): Hashimura Y, Nozu K, Kaito H, Nakanishi K, Fu XJ, Ohtsubo H, Hashimoto F, Oka M, Ninchoji T, Ishimori S, Morisada N, Matsunoshita N, Kamiyoshi N, Yoshikawa N, Iijima K
  • Journal Title: Kidney Int Volume: 85 Issue: 5 Pages: 1208-1213
  • DOI: 10.1038/ki.2013.479
  • Peer Reviewed
• [Journal Article] Natural history of genetically proven autosomal recessive Alport syndrome (2014)
  • Author(s): Oka M, Nozu K, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Morisada N, Yan K, Matsuo M, Yoshikawa N, Vorechovsky I, Iijima K
  • Journal Title: Pediatr Nephrol Volume: 29 Issue: 9 Pages: 1535-1544
  • DOI: 10.1007/s00467-014-2797-4
  • Peer Reviewed
• [Journal Article] 【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 遺伝性腎炎と先天性ネフローゼ症候群 (2014)
  • Author(s): 貝藤裕史、飯島一誠
  • Journal Title: 医学のあゆみ Volume: 249 Pages: 845-850
• [Journal Article] 【内科疾患最新の治療-明日への指針】Alport症候群 (2014)
  • Author(s): 野津寛大、飯島一誠
  • Journal Title: 内科 Volume: 6 Pages: 1172-1173
• [Presentation] A comprehensive diagnosis by targeted sequencing for clinically suspectsd alport syndrome patients in Japan (2017)
  • 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
• [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
• [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
• [Presentation] Establishment of a comprehensive diagnostic method using next generation sequencer for the Alport syndrome (2017)
  • 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
• [Presentation] Genetic and clinical characteristics of female X-linked Alport Syndrome: 267case study (2016)
  • Author(s): Yamamura T, Nozu K, Nakanishi K, Horinouchi T, Fujimura J, Minamikawa S, Kamiyoshi N, Ninchoji T, Kaito H, Morisada N, Nakanishi K, Yoshikawa N, Iijima K
  • Organizer: 17th Congress of the International Pediatric Nephrology Association
  • Place of Presentation: RAFAIN PALACE HOTEL & CONVENTION (Iguazu, Brazil)
  • Year and Date: 2016-09-20
  • Int'l Joint Research
• [Presentation] ターゲットシークエンス法による常染色体優性Alport症候群診断法の確立および遺伝学的背景、臨床的、病理学的検討 (2016)
  • Author(s): 神吉直宙、野津寛大、中西啓太、堀之内智子、藤村順也、南川将吾、 山村智彦、松野下夏樹、忍頂寺毅史、中西浩一、吉川徳茂、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（名古屋）
  • Year and Date: 2016-07-07
• [Presentation] X染色体連鎖型Alport症候群女性267例の遺伝学的・臨床的検討 (2016)
  • Author(s): 山村智彦, 野津寛大, 中西啓太, 堀之内智子, 藤村順也, 南川将吾, 神吉直宙, 忍頂寺毅史, 貝藤裕史, 森貞直哉, 中西浩一, 吉川徳茂, 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（名古屋）
  • Year and Date: 2016-07-07
• [Presentation] 男女共同参画委員会企画：遺伝性腎疾患 (2016)
  • Author(s): 野津寛大, 森貞直哉, 飯島一誠
  • Organizer: 第59回日本腎臓学会学術総会
  • Place of Presentation: パシフィコ横浜（横浜）
  • Year and Date: 2016-06-17
  • Invited
• [Presentation] 次世代シークエンサー（NGS）による染色体優性Alport症候群診断法の確立および臨床的、病理学的検討 (2016)
  • Author(s): 山村智彦, 野津寛大, 南川将吾, 神吉直宙, 忍頂寺毅史, 飯島一誠
  • Organizer: 第59回日本腎臓学会学術総会
  • Place of Presentation: パシフィコ横浜（横浜）
  • Year and Date: 2016-06-17
• [Presentation] 次世代シークエンサーによる染色体優性Alport症候群診断法の確立 (2016)
  • Author(s): 神吉 直宙, 野津 寛大, 中西 啓太, 堀之内 智子, 藤村 順也, 南川 将吾, 山村 智彦 松野下夏樹, 忍頂寺毅史, 飯島一誠
  • Organizer: 第119回日本小児科学会学術集会
  • Place of Presentation: ロイトン札幌（札幌）
  • Year and Date: 2016-05-13
• [Presentation] 教育講演 小児腎疾患診療における遺伝学的アプローチ (2015)
  • Author(s): 飯島一誠，森貞直哉，野津寛大
  • Organizer: 第37回日本小児腎不全学会学術集会
  • Place of Presentation: 石川
  • Year and Date: 2015-11-26
  • Invited
• [Presentation] Somatic Mosaicism and Variant Frequency Detected by Next Generation Sequencing in X Linked Alport Syndrome. (2015)
  • Author(s): Kamiyoshi N, Nozu K, Fu X.J, Yamamura T, Minamikawa S, Ninchoji T, 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
• [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
• [Presentation] Genital Organ Anomalies in Female Pediatric Patients with End-Stage Renal Disease. (2015)
  • Author(s): Kanda S, Morisada N, Tomii Y,Takizawa K, Kaneko N, Yabuuchi T, Hama H, Nakano E, Tada N, Ishizuka K, Akioka Y, Chikamoto H, Iijima K, Hattori M.
  • 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
• [Presentation] A Family Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome with a Novel Mutation of GATA3. (2015)
  • Author(s): Yabuuchi T, Kanda S, Morisada N, Takizawa K, Tomii Y, Kaneko N, Hama H, Nakano E, Tada N, Ishizuka K, Chikamoto H, Akioka Y, Iijima K, Hattori M.
  • 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
• [Presentation] New-Onset Diabetes After Transplantation in a Pediatric Patient with Congenital Anomalies of the Kidney and Urinary Tract: The Role of Hepatocyte Nuclear Factor 1β. (2015)
  • Author(s): Kaneko N, Morisada N,Takizawa K, Yabuuchi T, Hama H,Tada N, Nakano E, Kanda S, Ishizuka K, Chikamoto H, Akioka Y, Iijima K, Hattori M.
  • 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
• [Presentation] ワークショップ１ 腎炎・ネフローゼ症候群の治療トピックス 難治性ネフローゼ症候群に対するリツキシマブ治療 (2015)
  • Author(s): 飯島一誠，野津寛大，佐古まゆみ
  • Organizer: 第45回日本腎臓学会西部学術大会
  • Place of Presentation: 金沢
  • Year and Date: 2015-10-23
  • Invited
• [Presentation] Genetic, pathological and clinical backgrounds in autosomal dominant Alport syndrome. (2015)
  • Author(s): Nozu K, Kamiyoshi N, Matsunoshita N, Minamikawa S, Yamamura T, Ninchoji T, Tanaka R, Nakanishi K, Yoshikawa N, Iijima K.
  • Organizer: 48th Annual Scientific Meeting of the European Society for Pediatric Nephrology
  • Place of Presentation: Square Brussels Meeting Centre (Brussels, Belgium)
  • Year and Date: 2015-09-03
  • Int'l Joint Research
• [Presentation] 会長講演 小児特発性ネフローゼ症候群－新たな治療戦略と今後の課題－ (2015)
  • Author(s): 飯島一誠
  • Organizer: 日本小児腎臓病学会学術集会 第50回記念大会
  • Place of Presentation: 神戸
  • Year and Date: 2015-06-18
  • Invited
• [Presentation] 常染色体優性Alport症候群における遺伝学的背景および臨床的、病理学的検討 (2015)
  • Author(s): 神吉直宙，野津寛大，南川将吾，山村智彦，松野下夏樹，大坪裕美，忍頂寺毅史，貝藤裕史，飯島一誠
  • Organizer: 日本小児腎臓病学会学術集会 第50回記念大会
  • Place of Presentation: 神戸
  • Year and Date: 2015-06-18
• [Presentation] 常染色体優性Alport症候群の遺伝学的背景と臨床像 (2015)
  • Author(s): 神吉直宙，野津寛大，南川将吾，山村智彦，松野下夏樹，大坪裕美，忍頂寺毅史，貝藤裕史，飯島一誠
  • Organizer: 第58回日本腎臓学会学術総会
  • Place of Presentation: 名古屋
  • Year and Date: 2015-06-05
• [Presentation] よくわかるシリーズ７ 小児ネフローゼ症候群の治療 リツキサン (2015)
  • Author(s): 飯島一誠
  • Organizer: 第58回日本腎臓学会学術総会
  • Place of Presentation: 名古屋
  • Year and Date: 2015-06-05
  • Invited
• [Presentation] Autosomal Dominant Alport Syndrome: Molecular Analysis of the COL4A3/COL4A4 Genes and Clinical Outcome. (2014)
  • Author(s): Kamiyoshi N, Nozu k, Matsunoshita N, Ohtsubo H, Ninchoji T, Kaito H, Nakanishi N, Yoshikawa N, Iijima K
  • Organizer: American Society of Nephrology Kidney Week 2014
  • Place of Presentation: Pennsylvania Convention Center (Philadelphia, USA)
  • Year and Date: 2014-11-11 – 2014-11-16
• [Presentation] X-linked Alport syndrome patients caused by atypical splicing mutations in COL4A5. (2014)
  • Author(s): Nozu K, Morisada N, Kaito H, Ninchoji T, Nakanishi K, Yoshikawa N, Iijima K
  • Organizer: 47th Annual Scientific Meeting of the European Society for Pediatric Nephrology
  • Place of Presentation: Alfandega Congress Center (Porta, Portugal)
  • Year and Date: 2014-09-18 – 2014-09-20
• [Book] ネフローゼ症候群（ステロイド感受性）小児科診療ガイドライン－最新の診療指針－第3版 （編集：五十嵐隆） (2016)
  • Author(s): 飯島一誠
  • Total Pages: 670
  • Publisher: 総合医学社
• [Book] Alport症候群の軽症亜型 Annual Review 2015腎臓 (2015)
  • Author(s): 野津寛大、飯島一誠
  • Total Pages: 230
  • Publisher: 中外医学社