Identify a new gene which is important for the kidney development - Toward the achievement of regenerative medicine of kidney -
| Project/Area Number |
25870536
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
Kidney internal medicine
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| Research Institution | Tokyo Women's Medical University |
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Principal Investigator |
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 腎臓発生 / 先天性腎尿路奇形 / 新規原因遺伝子 / 次世代シークエンサー |
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| Outline of Final Research Achievements |
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) is a leading cause of end-stage renal failure in children. To understand the pathophysiology of CAKUT, finding out genes which are important for the kidney development is necessary.
1) Six2-GFP-Cre transgenic mice show no renal phenotype (+/-), and hypoplastic kidneys (-/-). We identified the insertion site of the BAC vector as Chr1: 118764600-118764900. However there is no gene in this region.
2) We performed exome sequencing in siblings of hypoplastic kidneys, and we found out that both alleles of exon 1 of Cobalamin Synthase W Domain-Containing Protein 1(CBWD1) are deleted in these siblings specifically. Other family members showed no deletion of this region. We also confirmed the deletion by PCR. We succeeded in finding out a new gene which is important for the kidney development.
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Report
(3 results)
Research Products
(23 results)
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[Journal Article] Sall1 maintains nephron progenitors and nascent nephrons by acting as both an activator and a repressor2014
Author(s)
S. Kanda, T. Ohmori, A. Taguchi, K. Kudo, T. Horiuchi, Y. Sato, S. Hino, Y. Suzuki, M. Sander, S. Sugano, M. Nakao, and R. Nishinakamura.
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Journal Title
J. Am. Soc. Nephrol.
Volume: 25
Issue: 11
Pages: 2584-2595
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Sall1 Maintains Nephron Progenitors and Nascent Nephrons by Acting as Both an Activator and a Repressor2014
Author(s)
Shoichiro Kanda, Shunsuke Tanigawa, Tomoko Ohmori, Atsuhiro Taguchi, Kuniko Kudo, Yutaka Suzuki, Yuki Sato, Shinjiro Hino, Maike Sander, Alan O. Perantoni, Aumio Sugano, Mitsuyoshi Nakao, and Ryuichi Nishinakamura
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Journal Title
Journal of American Society of Nephrology
Volume: 未定
Related Report
Peer Reviewed
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[Presentation] Antiphospholipase A2 receptor (PLA2R) expression in glomeruli in pediatric idiopathic membranous glomerulopathy (iMN) patients2014
Author(s)
Shoichiro Kanda, Shigeru Horita, Yuko Akioka, Naoto Kaneko, Tomoo Yabuuchi, Yuri Nawashiro, Norimasa Tada, Shinichiro Ohara, Takayuki Miyai, Noriko Sugawara, Kiyonobu Ishizuka, Motoshi Hattori
Organizer
American Society of Nephrology Kidney Week 2014
Place of Presentation
フィラデルフィア（米国）
Year and Date
2014-11-11 – 2014-11-16
Related Report
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