Identification of novel genes for congenital anomalies of Kidney and urinary tract (CAKUT) by CNV analyses and development of comprehensive gene testing for CAKUT
Project/Area Number |
20390240
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Kidney internal medicine
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Research Institution | Kobe University |
Principal Investigator |
IIJIMA Kazumoto Kobe University, 大学院・医学研究科, 教授 (00240854)
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Co-Investigator(Kenkyū-buntansha) |
NAGATA Michio 筑波大学, 大学院・人間総合科学, 教授 (10192238)
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Co-Investigator(Renkei-kenkyūsha) |
NAKAYAMA Makioko 東北大学, 大学院・学系研究科, 大学院生 (80469999)
MORISADA Naoya 神戸大学, 大学院・医学研究科, 助教 (00389446)
NOZU Kandai 神戸大学, 医学部附属病院, 助教 (70362796)
HASHIMURA Yuya 神戸大学, 大学院・医学研究科, 助教 (80457077)
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Project Period (FY) |
2008 – 2010
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Project Status |
Completed (Fiscal Year 2010)
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Budget Amount *help |
¥18,590,000 (Direct Cost: ¥14,300,000、Indirect Cost: ¥4,290,000)
Fiscal Year 2010: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2009: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2008: ¥7,930,000 (Direct Cost: ¥6,100,000、Indirect Cost: ¥1,830,000)
|
Keywords | 先天性腎尿路奇形 / CNV解析 / 原因遺伝子 / 先天性腎尿路奇形(CAKUT) / copy number variation (CNV) / microdeletion / microduplication / copy number variation(CNV) / genome-wide CNV array / TCF2 / 多嚢胞性異形成腎(MCDK) |
Research Abstract |
Copy number variation (CNV) of human genome is associated with several diseases including congenital anomalies. To identify new genes responsible for congenital anomalies of kidney and urinary tract (CAKUT), we utilized Agilent genome-wide CNV 400k array. We identified 4 CNV regions, which were not detected in healthy controls and CNV databases. We found 8 genes within or around these CNV regions. Of these genes, we identified a gene in which a CAKUT-specific heterozygous deletion resulted in deletion of 3 exons. We will analyze whether these genes are responsible for CAKUT. We developed comprehensive gene testing systems for known CAKUT genes (HNF1B, PAX2, EYA1, SIX1, SALL1) using multiplex ligation-dependent probe amplification and mRNA level analysis as well as direct sequencing of genomic DNA.
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Report
(4 results)
Research Products
(198 results)
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[Journal Article] Epithelial-to-mesenchymal transition in cyst lining epithelial cells in an orthologous PCK rat model of autosomal-recessive polycystic kidney disease2011
Author(s)
Togawa H, Nakanishi K, Mukaiyama H, Hama T, Shima Y, Sako M, Miyajima M, Nozu K, Nishii K, Nagao S, Takahashi H, Iijima K, Yoshikawa N
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Journal Title
Am J Physiol Renal Physiol
Volume: 300
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[Journal Article] The Pharmacological Characteristics of Molecular-Based Inherited Salt-Losing Tubulopathies.2010
Author(s)
Nozu K, Iijima K, Kanda K, Nakanishi K, Yoshikawa N, Satomura K, Kaito H, Hashimura Y, Ninchoji T, Komatsu H, Kamei K, Miyashita R, Kugo M, Ohashi H, Yamazaki H, Mabe H, Otsubo A, Igarashi T, Matsuo M.
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Journal Title
J Clin Endocrinol Metab. 95(12)
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[Journal Article] Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.2010
Author(s)
Morisada N, Rendtorff ND, Nozu K, Morishita T, Miyakawa T, Matsumoto T, Hisano S, Iijima K, Tranebjarg L, Shirahata A, Matsuo M, Kusuhara K.
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Journal Title
Pediatr Nephrol 25(7)
Pages: 1343-1348
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[Journal Article] Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion2010
Author(s)
Morisada N, Rendtorff ND, Nozu K, Morishita T, Miyakawa T, Matsumoto T, Hisano S, Iijima K, Tranebjaerg L, Shirahata A, Matsuo M, Kusuhara K
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Journal Title
Pediatr Nephrol
Volume: 25
Pages: 1343-1348
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[Journal Article] Rituximab in refractory nephrotic syndrome2010
Author(s)
Prytula A, Iijima K, Kamei K, Geary D, Gottlich E, Majeed A, Taylor M, Marks SD, Tuchman S, Camilla R, Ognjanovic M, Filler G, Smith G, Tullus K
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Journal Title
Pediatr Nephrol
Volume: 25
Pages: 461-468
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[Journal Article] 小児慢性腎臓病の薬物療法実態調査2010
Author(s)
矢田菜穂子, 上村治, 本田雅敬, 松山健, 秋岡祐子, 粟津緑, 飯島一誠, 池住洋平, 石倉健司, 伊藤秀一, 北山浩嗣, 佐古まゆみ, 関根孝司, 永井琢人, 幡谷浩史, 藤田直也, 山田拓司, 日本小児腎臓病学会小児CKD対策小委員会
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Journal Title
日本小児科学会雑誌
Volume: 114
Pages: 1631-1635
NAID
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[Journal Article] COL4A3/COL4A4のヘテロ接合体変異を有する菲薄基底膜腎症のドナーから生体腎移植を実施した常染色体劣性アルポート症候群の2例2010
Author(s)
梶保祐子, 上田博章, 水谷誠, 谷口貴実子, 古山政幸, 石塚喜世伸, 藤井寛, 近本裕子, 秋岡祐子, 岡政史, 野津寛大, 飯島一誠, 服部元史
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Journal Title
日本小児腎臓病学会雑誌
Volume: 23
Pages: 113-118
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[Journal Article] 日本人小児の血清クレアチニン基準値2010
Author(s)
上村治, 本田雅敬, 松山健, 秋岡祐子, 粟津緑, 飯島一誠, 池住洋平, 石倉健司, 伊藤秀一, 北山博嗣, 佐古まゆみ, 関根孝司, 永井琢人, 幡谷浩史, 藤田直也, 矢田菜穂子, 山田拓司, 日本小児腎臓病学会・小児CKD対策委員会
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Journal Title
日本小児腎臓病学会雑誌
Volume: 23
Pages: 241-244
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[Journal Article] 日本人小児(2~12歳)のGFR推算式中間報告2010
Author(s)
永井琢人, 上村治, 本田雅敬, 松山健, 秋岡祐子, 粟津緑, 飯島一誠, 池住洋平, 石倉健司, 伊藤秀一, 北山博嗣, 佐古まゆみ, 関根孝司, 幡谷浩史, 藤田直也, 矢田菜穂子, 山田拓司, 日本小児腎臓病学会・小児CKD対策委員会
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Journal Title
日本小児腎臓病学会雑誌
Volume: 23
Pages: 245-249
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[Journal Article] Rituximab in refractory nephrotic syndrome2010
Author(s)
Prytula A, Iijima K, Kamei K, Geary D, Gottlich E, Majeed A, Taylor M, Marks SD, Tuchman S, Camilla R, Ognjanovic M, Filler G, Smith G, Tullua K.
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Journal Title
Pediatr Nephrol 25
Pages: 461-468
Related Report
Peer Reviewed
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[Journal Article] Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion2010
Author(s)
Morisada N, Rendtorff ND, Nozu K, Morishita T, Miyakawa T, Matsumoto T, Hisano S, Iijima K, Tranebjaerg L, Shirahata A, Matsuo M, Kusuhara K.
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Journal Title
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[Journal Article]2010
Author(s)
神田杏子, 野津寛大, 飯島一誠, 松尾雅文
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Journal Title
Bartter 症候群と Gitelman 症候群についての最近の知見・利尿剤負荷試験にて判明したこと『Annual Review 腎臓2010』(御手洗哲也・東原英二編)(中外医学社)
Pages: 72-77
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[Journal Article]2010
Author(s)
中山真紀子, 野津寛大, 飯島一誠
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Journal Title
TCF2遺伝子異常と先天性腎尿路奇形『Annual Review 腎臓2010』(御手洗哲也・東原英二編)(中外医学社)
Pages: 212-218
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[Journal Article] In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.2009
Author(s)
Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, Fu XJ, Hashimura Y, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M.
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Journal Title
Hum Genet 126(4)
Pages: 533-538
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[Journal Article] Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.2009
Author(s)
Hashimura Y, Nozu K, Kanegane H, Miyawaki T, Hayakawa A, Yoshikawa N, Nakanishi K, Takemoto M, Iijima K, Matsuo M.
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Journal Title
Pediatr Nephrol 24(6)
Pages: 1181-1186
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[Journal Article] Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome2009
Author(s)
Hashimura Y, Nozu K, Kanegane H, Miyawaki T, Hayakawa A, Yoshikawa N, Nakanishi K, Takemoto M, Iijima K, Matsuo M.
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Journal Title
Pediatr Nephrol 24
Pages: 1181-1186
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[Journal Article] In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation2009
Author(s)
Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, Fu XJ, Hashimura Y, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M.
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Journal Title
Hum Genet 126
Pages: 533-538
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[Journal Article] Cyclosporine and steroid therapy in children with steroid-resistant nephrotic syndrome2009
Author(s)
Hamasaki Y, Yoshikawa N, Hattori S, Sasaki S, Iijima K, Nakanishi K, Matsuyama T, Ishikura K, Yata N, Kaneko T, Honda M., Japanese Study Group of Renal Disease
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Journal Title
Pediatr Nephrol 24
Pages: 2177-2185
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[Journal Article] 当院にて2007年以降に経験した小児献腎移植の4例2009
Author(s)
兵頭洋二, 石村武志, 竹田雅, 貝藤裕史, 神田杏子, 野津寛大, 三宅秀明, 田中一志, 武中篤, 飯島一誠, 藤澤正人
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Journal Title
日本小児腎不全学会雑誌 29
Pages: 198-200
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[Journal Article]2009
Author(s)
飯島一誠
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難治性ネフローゼ症候群へのリツキシマブ療法『ここまできた注目の小児科臨床ガイド 小児科専門医のための生涯教育ナビゲータ』(日本小児科学会教育委員会)
Pages: 130-136
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[Journal Article]2009
Author(s)
飯島一誠
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TP【総蛋白質】『新しい小児の臨床検査基準値ポケットガイド』(田中敏章編)(じほう)
Pages: 34-35
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[Journal Article]2009
Author(s)
飯島一誠
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ALB[アルブミン]『新しい小児の臨床検査基準値ポケットガイド』(田中敏章編)(じほう)
Pages: 36-37
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[Journal Article]2009
Author(s)
野津寛大, 飯島一誠
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Journal Title
Na[ナトリウム]『新しい小児の臨床検査基準値ポケットガイド』(田中敏章編)(じほう)
Pages: 70-71
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[Journal Article]2009
Author(s)
野津寛大, 飯島一誠
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Cl[クロール]『新しい小児の臨床検査基準値ポケットガイド』(田中敏章編)(じほう)
Pages: 72-73
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[Journal Article]2009
Author(s)
野津寛大, 飯島一誠
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Journal Title
K[カリウム]『新しい小児の臨床検査基準値ポケットガイド』(田中敏章編)(じほう)
Pages: 74-75
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[Journal Article]2009
Author(s)
飯島一誠
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Journal Title
小児の血管性紫斑病(アレルギー性紫斑病, アナフィラクトイド紫斑病, ヘノッホ・シェーンライン紫斑病)『今日の治療指針 私はこう治療している』(山口徹・北原光夫・福井次矢編)(医学書院)
Pages: 1117-1118
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[Journal Article] Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.2008
Author(s)
Nozu K, Przybyslaw Krol R, Ohtsuka Y, Nakanishi K, Yoshikawa N, Nozu Y, Kaito H, Kanda K, Hashimura Y, Hamasaki Y, Iijima K, Matsuo M.
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Journal Title
Pediatr Nephrol. 23(11)
Pages: 2085-2090
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[Journal Article] Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.2008
Author(s)
Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N.
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Journal Title
Nephrol Dial Transplant. 23(8)
Pages: 2525-3250
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[Journal Article] Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.2008
Author(s)
Nozu K, Przybyslaw Krol R, Ohtsuka Y, Nakanishi K, Yoshikawa N, Nozu Y, Kaito H, Kanda K, Hashimura Y, Hamasaki Y, Iiiima K, Matsuo M.
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Journal Title
Pediatr Nephrol 23
Pages: 2085-2090
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[Journal Article] Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.2008
Author(s)
Krol RP, Nozu K, Nakanishi K, Iiiima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N.
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Journal Title
Nephrol Dial Transplant 23
Pages: 2525-2530
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[Journal Article] Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.2008
Author(s)
Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T, Nakanishi K, Yoshikawa N, Iijima K, Matsuo M.
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Journal Title
J Med Genet 45
Pages: 182-186
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[Presentation] Epithelial-to-Mesenchymal Transition(EMT)in cpk Mouse, a Model of ARPKD2010
Author(s)
Togawa H, Nakanishi K, Mukaiyama H, Hama T, Shima Y, Miyajima M, Nozu K, Takahashi H, Nagao S,Iijima K, Yoshikawa N
Organizer
Renal Week 2010
Place of Presentation
Colorado Convention Center(アメリカ)
Year and Date
2010-11-16
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[Presentation] Clinical and Immunohistochemical Analyses of Japanese Families with Genetically-Defined Autosomal-Recessive Alport Syndrome2010
Author(s)
Iijima K, Oka M, Hashimura Y, Otsuka Y, Kaito H, Sado Y, Yan K, Nakanishi K, Yoshikawa N, Nagasako H, Nozu K, Matsuo M
Organizer
Renal Week 2010
Place of Presentation
Colorado Convention Center(アメリカ)
Year and Date
2010-11-16
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[Presentation] Treatment Strategy and Outcome for Henoch-Schonlein Purpura Nephritis2010
Author(s)
Ninchoj T, Hashimura Y, Kaito H, Nozu N, Kanda, K, Kamioka I, Shima Y, Hamahira K, Nakanishi K, Tanaka R, Iijima K, Yoshikawa N, Matsuo M
Organizer
the 15th Congress of the International Pediatric Nephrology Association
Place of Presentation
New York Hilton(アメリカ)
Year and Date
2010-08-29
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[Presentation] Clinical and Immunohistochemical Analyses of Japanese Families with Genetically-Defined Autosomal-Recessive Alport Syndrome.2010
Author(s)
Iijima K, Oka M, Hashimura Y, Ohtsuka Y, Kaito H, Sado Y, Yan K, Nakanishi K, Yoshikawa N, Nagasako H, Nozu K, Matsuo M.
Organizer
American Society of Nephrology 2010 Annual Meeting
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[Presentation] 重症小児IgA腎症における治療反応性規定因子2009
Author(s)
島友子, 中西浩一, 戸川寛子, 尾鼻美奈, 野津寛大, 飯島一誠, 田中亮二郎, 佐々木聡, 吉川彼茂
Organizer
第44回日本小児腎臓病学会学術集会
Place of Presentation
一橋記念講堂・学術総合センター(東京都)
Year and Date
2009-06-27
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[Presentation] 遺伝性腎疾患における intron 内の変異に伴う病気発症メカニズム解明のための in vivo および in vitro の実験系の確立2009
Author(s)
野津寛大, 野津圭美, 齋木加代子, 西田篤丈, 貝藤裕史, 神田杏子, 橋村裕也, 中西浩一, 吉川徳茂, 河井和夫, 竹島泰弘, 飯島一誠, 松尾雅文
Organizer
第44回日本小児腎臓病学会学術集会
Place of Presentation
一橋記念講堂・学術総合センター(東京都)
Year and Date
2009-06-27
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[Presentation] 小児CKD全国実態調査2009
Author(s)
矢田菜穂子, 上村治, 本田雅敬, 秋岡祐子, 粟津緑, 飯島一誠, 池住洋平, 石倉健司, 伊藤秀一, 北山博嗣, 関根孝司, 永井琢人, 幡谷浩史, 藤田直也, 松山健, 大橋靖雄, 日本小児腎臓病学会小児CKD対策小委員会
Organizer
第44回日本小児腎臓病学会学術集会
Place of Presentation
一橋記念講堂・学術総合センター(東京都)
Year and Date
2009-06-26
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[Presentation] 小児CKD全国実態調査2009
Author(s)
矢田菜穂子, 上村治, 本田雅敬, 秋岡祐子, 粟津緑, 飯島一誠, 池住洋平, 石倉健司, 伊藤秀一, 北山博嗣, 佐古まゆみ, 関根孝司, 永井琢人, 幡谷浩史, 藤田直也, 松山健, 山田拓司, 大橋靖雄, 日本小児腎臓病学会小児CKD対策小委員会
Organizer
第52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
2009-06-03
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[Presentation] Epithelial-to-Mesenchymal Transition in Cyst-Lining Epithelial Cells in PCK Rat、2008
Author(s)
Togawa H, Nakanishi K, Obana M, Shima Y, Miyajima M, Nozu K, Iijima K, Nishi K, Nagao S, Takahashi H, Yoshikawa N.
Organizer
American Society of Nephrology 2008 Annual Meeting
Place of Presentation
Philadelphia, USA
Year and Date
2008-11-07
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[Presentation] The First Case of Minimal Change Nephrotic Syndrome Associated with Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome2008
Author(s)
Hashimura Y, Nozu K, Kanda K, Takeshima Y, Hayakawa A, Iijima K, Matsuo M
Organizer
American Society of Nephrology 2008 Annual Meeting
Place of Presentation
Philadelphia, USA
Year and Date
2008-11-06
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[Presentation] III型Bartter症候群患者における利尿剤負荷試験 Gitelman症候群との類似性の機序に関する研究.2008
Author(s)
神田杏子, 野津寛大, 貝藤裕史, 松尾雅文, 亀井宏一, 飯島一誠, 中西浩一, 吉川徳茂, 関根孝司, 五十嵐隆, 小松博史, 宮下律子.
Organizer
第43回日本小児腎臓病学会学術集会
Place of Presentation
福岡
Year and Date
2008-06-14
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[Presentation] 当院における小児劇症肝不全10症例に対する人工肝補助の経験.2008
Author(s)
白川利彦, 亀井宏一, 笠原群生, 清水直樹, 中川聡, 肥沼幸, 新井勝大, 寺町昌史, 笠原克明, 中山真紀子, 鈴木輝明, 飯島一誠
Organizer
第43回日本小児腎臓病学会学術集会
Place of Presentation
福岡
Year and Date
2008-06-13
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[Presentation] 運動後急性腎不全8症例におけるURATl遺伝子解析の検討.2008
Author(s)
貝藤裕史, 野津寛大, 飯島一誠, 中西浩一, 太田和秀, 藤枝幹也, 由良和夫, 亀井宏一, 横山忠史, 石原正行, 島友子, 神田杏子, 吉川徳茂, 松尾雅文
Organizer
第43回日本小児腎臓病学会学術集会
Place of Presentation
福岡
Year and Date
2008-06-13
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[Book] 2011-2012EBM小児疾患の治療(五十嵐隆, 石井正浩, 清水俊明, 滝田順子, 平岩幹男, 水口雅, 横田俊平, 横谷進, 渡辺とよ子編)(小児ステロイド抵抗性ネフローゼ症候群に対するリツキシマブの効果は?)2011
Author(s)
飯島一誠, 貝藤裕史, 伊藤秀一
Publisher
中外医学社
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