2007 Fiscal Year Final Research Report Summary
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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| Keywords | nephritic syndrome / glomerular capillary wall / glomerular podocyte / slit diaahraam / gene |
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| 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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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
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Description
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Pediatr Int 49
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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 Article] Long-term follow-up of juvenile acute nonproliferative glomerulitis(JANG)2007
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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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Author(s)
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Journal Title
Pediatr Nephrol (in press)
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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)
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[Journal Article] Effective and safe treatment with cyclosporine in nephritic children : a prospective, randomized, multicenter trial
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Ishikura, K., Ikeda, M., Hattori, S., Yoshikawa, N., Sasaki, S., Iijima, K., Nakanishi, K., Yata, N., Honda, M
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