Genetic analysis of glomerular podocyte molecules in children with nephrotic syndrome
| Project/Area Number |
18591199
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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 |
Pediatrics
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| Research Institution | Wakayama Medical University |
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Principal Investigator |
YOSHIKAWA Norishige Wakayama Medical University, Department of Pediatrics, Professor (10158412)
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| Co-Investigator(Kenkyū-buntansha) |
NAKANISHI Koichi Wakayama Medical University, Department of Pediatrics, Professor (50336880)
SAKO Mayumi Wakayama Medical University, Department of Pediatrics, Lecturer (60405454)
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| Project Period (FY) |
2006 – 2007
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| Project Status |
Completed (Fiscal Year 2007)
|
| Budget Amount *help |
¥3,860,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥360,000)
Fiscal Year 2007: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2006: ¥2,300,000 (Direct Cost: ¥2,300,000)
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| Keywords | nephritic syndrome / glomerular capillary wall / glomerular podocyte / slit diaahraam / gene |
|---|
| Research Abstract |
Podocin is an integral membrane protein encodedby NPHS2, which is mapped to 1q25-31 and exclusively expressed in glomerular podocytes. NPHS2 mutations are responsible for autosomal recessive familial steroid-resistant nephrotic syndrome (SRNS). It has been demonstrated that sporadic SRNS and steroid-sensitive nephrotic syndrome. We isolated genomic DNA from 26 Japanese children with steroid-resistant nephrotic syndrome and 45 Japanese children with steroid-sensitive nephrotic syndrome. We analyzed all eight exons of NPHS2 using the polymerase chain reaction and direct sequencing. Four silent variants (102G>A, 288C>T, 954T>C, 1038A>G) were identified in some of the patients and normal controls, indicating that the silent variants are polymorphisms. There was nosignificant difference in the genotypic and allelic frequencies of these 4 polymorphisms between the patients and normal controls and between the steroid-resistant and steroid-sensitive patients. In conclusion, NPHS2 gene mutations are not a major cause of nephrotic syndrome in Japanese children.
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Report
(3 results)
Research Products
(30 results)
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[Journal Article] Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness2008
Author(s)
Nozu, K., Inagaki, T., Fu, XZ., Nozu, Y., Kaito, H., Kanda, K., Sekine, T., Igarashi, I., Nakanishi, K., Yoshikawa, N., Iijima, K., Matsuo, M
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Journal Title
J Med Genetics 45
Pages: 182-186
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] pathological characteristics of five children with non-Shiga toxin-mediated hemolytic uremic syndrome2007
Author(s)
Kamioka, I., Nozu, K., Fujita, T., Kaito, H., Tanaka, R., Yoshiya, K., Iijima, K., Nakanishi, K., Yoshikawa, N., Matsuo, M., Prognosis
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Journal Title
Pediatr Int 49
Pages: 196-201
Description
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[Journal Article] Molecular analysis of patients with type III bartter syndrome : Picking up large heterozygous deletions with semiquantitative PCR2007
Author(s)
Nozu, K., Fu, XJ., Nakanishi, K., Yoshikawa, N., Kaito, H., Kanda, K., Krol, RP., Miyashita, R., Kamitsuji, H., Kanda, S., Hayashi, Y., Satomura, K., Shimizu, N., Iijima, K., Mastuo, M
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Journal Title
Pediatr Research 62
Pages: 1-6
NAID
Description
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[Journal Article] Long-term follow-up of juvenile acute nonproliferative glomerulitis(JANG)2007
Author(s)
Fujita, T., Nozu, K., Iijima, K., Kamioka, I., Kaito, H., Tanaka, R., Nakanishi, K., Matsuo, M., Yoshikawa, N
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Journal Title
Pediatr Nephrol 22
Pages: 1957-1961
Description
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[Journal Article] Cyclosporin in idiopathic glomerular disease associated with the nephrotic syndrome : Workshop recommendations2007
Author(s)
CattranDC, Alexopoulos, E., Heeling, P., Hoyer, PF., Johnston, A., Meyrier, A., Ponticelli C, Saito T, Choukroun, G., Nachman, P., Praga, M., Yoshikawa, N
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Journal Title
Kidney Int 72
Pages: 1429-1447
Description
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[Journal Article] Improved renal survival in Japanese children with IgA nephropathy
Author(s)
Yata, N., Nakanishi, K., Shima, Y., Togawa, H., Obana, M., Sako, M., Nozu, K., Tanaka, R., Iijima, K., Yoshikawa, N
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Journal Title
Pediatr Nephrol (in press)
Description
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[Journal Article] Yoshikawa, N., Nakanishi, K., Ishikura, K., Hataya, H., Iijima, K., Honda, M
Author(s)
Yoshikawa, N., Nakanishi, K., Ishikura, K., Hataya, H., Iijima, K., Honda, M
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Journal Title
Pediatr Nephrol (in press)
Description
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[Journal Article] Effective and safe treatment with cyclosporine in nephritic children : a prospective, randomized, multicenter trial
Author(s)
Ishikura, K., Ikeda, M., Hattori, S., Yoshikawa, N., Sasaki, S., Iijima, K., Nakanishi, K., Yata, N., Honda, M
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Description
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