2011 Fiscal Year Final Research Report
Genetic studies on familial interstitial nephritis
| Project/Area Number |
21591045
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Kidney internal medicine
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| Research Institution | Kansai Medical University |
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Principal Investigator |
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| Project Period (FY) |
2009 – 2011
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| Keywords | 尿細管 / ゲノム / 疾患遺伝子 / 慢性腎臓病 / 腎不全 |
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| Research Abstract |
Chronic kidney disease(CKD) is clinically heterogeneous groups of diseases at a higher risk of potentially progressing to the end stage renal failure. The CKD is becoming a global health problem since it is indeed highly prevalent at one in eight adult individuals. The tubule-interstitial injuries significantly contribute to the pathogenesis of CKD as a primary initiating factor and/or a secondary exacerbating changes resulting from the glomerular insults. However, earlier tubule-interstitial injuries are often under-recognized because the patients barely manifest overt proteinuria and renal dysfunction. To improve the treatment for CKD, there is a need for elucidation of new disease biomarkers and genetic risk factors underlying tubule-interstitial diseases.
This study aimed to identify the disease genes underling a large dominant family with tubule-interstitial nephritis. A combined approach of linkage analysis and next generation sequencing revealed that two novel single nucleotide variants may explain the susceptibility for interstitial nephritis.
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[Journal Article] Glomerular proteins related to slit diaphragm and matrix adhesion in the foot processes are highly tyrosine phosphorylated in the normal rat kidney2010
Author(s)
Zhang Y, Yoshida Y, Nameta M, Xu B, Taguchi I, Ikeda T, Fujinaka H, Mohamed SM, Tsukaguchi H, Harita Y, Yaoita E, Yamamoto T
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Journal Title
Nephrol Dial Transplant
Volume: 25
Pages: 1785-1795
Peer Reviewed
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[Journal Article] More on clinical renal genetics2010
Author(s)
Grunfeld JP, Hwu W, Chien Y, Brown E, Schlondorff J, Becker Dj, Tsukaguchi H, Uschinski A, Higgs H, Henderson J, Pollak M, et al
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Journal Title
Clin J Am Soc Nephrol
Volume: 5
Pages: 563-567
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