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2007 Fiscal Year Final Research Report Summary

Genetic analysis of glomerular podocyte molecules in children with nephrotic syndrome

Research Project

Project/Area Number 18591199
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionWakayama Medical University

Principal Investigator

YOSHIKAWA Norishige  Wakayama Medical University, Department of Pediatrics, Professor (10158412)

Co-Investigator(Kenkyū-buntansha) NAKANISHI Koichi  Wakayama Medical University, Department of Pediatrics, Professor (50336880)
SAKO Mayumi  Wakayama Medical University, Department of Pediatrics, Lecturer (60405454)
Project Period (FY) 2006 – 2007
Keywordsnephritic 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.

  • Research Products

    (16 results)

All 2008 2007 Other

All Journal Article (16 results) (of which Peer Reviewed: 8 results)

  • [Journal Article] Molecular analysis of digenic inheritance in Bartter syndrome with se nsorineural deafness2008

    • Author(s)
      Nozu K
    • Journal Title

      J Med Genetics 45

      Pages: 182-186

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [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
    • Journal Title

      J Med Genetics 45

      Pages: 182-186

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Prognosis and pathological characteristics of five children with non-Shiga toxin-mediated hemolytic uremic syndrome2007

    • Author(s)
      Kamioka I
    • Journal Title

      Pediatr Int 49

      Pages: 196-201

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Molecular analysis of patients with type III bartter syndrome:Picking up large heterozygous deletions with semiauantitative PCR2007

    • Author(s)
      Nozu K
    • Journal Title

      Pediatr Research 62

      Pages: 1-6

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Long-term follow-up of juvenile acute nonproliferative glomerulitis (J ANG)2007

    • Author(s)
      Fujita T
    • Journal Title

      Pediatr Nephrol 22

      Pages: 1957-1961

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Cyclosporin in idiopathic glomerular disease associated with the nephr otic syndrome:Workshop recommendations2007

    • Author(s)
      CattranDC
    • Journal Title

      Kidney Int 72

      Pages: 1429-1447

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [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
    • Journal Title

      Pediatr Int 49

      Pages: 196-201

    • Description
      「研究成果報告書概要(欧文)」より
  • [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
    • Journal Title

      Pediatr Research 62

      Pages: 1-6

    • Description
      「研究成果報告書概要(欧文)」より
  • [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
    • Journal Title

      Pediatr Nephrol 22

      Pages: 1957-1961

    • Description
      「研究成果報告書概要(欧文)」より
  • [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
    • Journal Title

      Kidney Int 72

      Pages: 1429-1447

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Improved renal survival in Japanese children with IgA nephropathy

    • Author(s)
      Yata N
    • Journal Title

      Pediatr Nephrol (In Press)

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Combination therapy with mizofibine for severe childhood IgA nephro pathy:A pilot study

    • Author(s)
      Yoshikawa N
    • Journal Title

      Pediatr Nephrol (In Press)

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Effective and safe treatment with cyclosporine in nephritic children:a prospective,randomized,multicenter trial

    • Author(s)
      Ishikura K
    • Journal Title

      Kidney Int (In Press)

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [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
    • Journal Title

      Pediatr Nephrol (in press)

    • Description
      「研究成果報告書概要(欧文)」より
  • [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
    • Journal Title

      Pediatr Nephrol (in press)

    • Description
      「研究成果報告書概要(欧文)」より
  • [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
    • Journal Title

      Kidney Int (In press)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 2010-02-04  

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