Isao Kuribayashi

Summary

Affiliation: Kochi University
Country: Japan

Publications

  1. ncbi request reprint Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele
    Isao Kuribayashi
    Department of Molecular Genetics, Kochi University Medical School, Nankoku, Kochi, Japan
    Horm Res 63:284-93. 2005
  2. ncbi request reprint A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasia
    Isao Kuribayashi
    Department of Molecular Genetics, Kochi Medical School, Nankoku, Kochi, Japan
    Endocr Res 29:377-81. 2003
  3. ncbi request reprint [Steroid 11beta-hydroxylase deficiency--focusing on the CYP11B2/CYP11B1 chimera which has been recently discovered as the causing gene--]
    Isao Kuribayashi
    Department of Molecular Genetics, Kochi University Medical School, Kohasu, Japan
    Seikagaku 78:749-55. 2006
  4. ncbi request reprint A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism
    Isao Kuribayashi
    Department of Medical Chemistry, Kochi Medical School, Kochi, Japan
    Horm Res 60:255-60. 2003

Collaborators

Detail Information

Publications4

  1. ncbi request reprint Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele
    Isao Kuribayashi
    Department of Molecular Genetics, Kochi University Medical School, Nankoku, Kochi, Japan
    Horm Res 63:284-93. 2005
    ..In order to better understand the molecular basis causing 11beta-OHD, we performed detailed studies of CYP11B1 in a newly described patient diagnosed with the classical signs of 11beta-OHD...
  2. ncbi request reprint A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasia
    Isao Kuribayashi
    Department of Molecular Genetics, Kochi Medical School, Nankoku, Kochi, Japan
    Endocr Res 29:377-81. 2003
    ..The above results confirm that the patient suffers from complete loss of the final step in cortisol biosynthesis pathway because of the nonsense mutation...
  3. ncbi request reprint [Steroid 11beta-hydroxylase deficiency--focusing on the CYP11B2/CYP11B1 chimera which has been recently discovered as the causing gene--]
    Isao Kuribayashi
    Department of Molecular Genetics, Kochi University Medical School, Kohasu, Japan
    Seikagaku 78:749-55. 2006
  4. ncbi request reprint A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism
    Isao Kuribayashi
    Department of Medical Chemistry, Kochi Medical School, Kochi, Japan
    Horm Res 60:255-60. 2003
    ..To clarify the underlying molecular mechanism of corticosterone methyl oxidase type II (CMO II) deficiency, Japanese patients newly diagnosed with CMO II deficiency were investigated...