Affiliation: Kochi University
- 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 alleleIsao 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...
- A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasiaIsao 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...
- [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
- A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronismIsao 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...