Systematic Differential Diagnosis for Tubulointerstitial Diseases Based on the Gemome Information
| Project/Area Number |
26461246
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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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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| Co-Investigator(Renkei-kenkyūsha) |
GOTO Shin 新潟大学, 医歯学系, 准教授 (00463969)
ICHIDA Kimiyoshi 東京薬科大学, 薬学部, 教授 (80183169)
INOUE Itsuro 国立遺伝学研究所, 総合遺伝研究系, 教授 (00192500)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 尿細管 / 遺伝子変異 / 腎不全 / ネフロン / シークエンス / 疾患遺伝子 / 間質性腎炎 / ゲノム / 変異 / 尿細管間質腎炎 / 次世代遺伝子解析 / ゲノム医学 / エキソーム解析 |
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| Outline of Final Research Achievements |
Tubulo-interstitial diseases play a key role in the pathogenesis of many chronic kidney diseases. These disorders are usually caused by complex interplay between genetic environmental factors, while some are ascribed to monogenic defects. Such Mendelian examples are autosomal-recessive nephronopthisis and autosomal-dominant medullary cystic kidney diseases. Both diseases share a common pathologic feature consisting of tubular atrophy, basement membrane irregularity, and cystic formation, and interstitial fibrosis. This study is aimed to elucidate the molecular causes of adult-onset autosomal dominant tubulointerstitial kidney diseases (ADTKD) and to generate a systematic differential diagnosis schema. Our data indicated that some ADTKD(10-20%) are caused by UMOD mutations. The relevance of MUC1 remains unknown because of the technical difficulty to identify the mutations in the variable number, tandem-repeat region (VNTR).
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Report
(4 results)
Research Products
(23 results)
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[Journal Article] Correlation of whole kidney hypertrophy with glomerular over-filtration in live, gender-mismatched renal transplant allografts.2016
Author(s)
7)Yanishi M＊, Tsukaguchi H, Nguyen TH, Koito Y, Taniguchi H, Yoshida K, Mishima T, Sugi M, Kinoshita H, Matsuda T
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Journal Title
Nephrology (Carlton).
Volume: Aug 30,
Issue: 12
Pages: 1002-1007
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Short-term outcome and quality of life in kidney transplant recipient with monoclonal gammopathy.2016
Author(s)
Yanishi M, Tsukaguchi H, Yoshida T, Taniguchi H, Yoshida K, Mishima T, Komai Y, Yasuda K, Watanabe M, Sugi M, Kinoshita H, Matsuda T
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Journal Title
CEN Case Rep
Volume: XX
Issue: 2
Pages: 168-172
DOI
Related Report
Peer Reviewed / Open Access
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[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
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Journal Title
Am J Hum Genet
Volume: 97(4)
Issue: 4
Pages: 555-566
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Presentation] Biallelic NUP107 Mutations Cause Early Childhood-Onset Steroid Resistant Nephrotic Syndrome.2016
Author(s)
1)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
Place of Presentation
京都国際会議場
Year and Date
2016-04-03
Related Report
Invited
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