For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
15
views
9
references
 Top references
cited by
3
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
1 collections
    0
    shares
      419
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found

      A Missense Mutation (GGC[ 435Gly]→AGC[Ser]) in Exon 8 of the CYP11B2 Gene Inherited in Japanese Patients with Congenital Hypoaldosteronism

      case-report

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Objectives: 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. Methods: We analyzed the patients’ genomic DNA sequence on all 9 exons of the CYP11B2 gene. In addition, restriction fragment length polymorphism (RFLP) analysis and expression studies were performed. Results: The analysis showed that the patients homozygously retained a missense mutation, GGC[<sup>435</sup>Gly]→AGC[Ser], in the CYP11B2 gene. Expression studies indicated that the steroid 18-hydroxylase/oxidase activities of the mutant enzyme were substantially reduced. Conclusion: These results support the hypothesis that this mutation causes CMO II deficiency in the patients, and are in accordance with our theory that the partial loss of P-450<sub>C18</sub> activities causes CMO II deficiency.

          Related collections

          Most cited references9

          • Record: found
          • Abstract: found
          • Article: not found

          Two distinct enhancers with different cell specificities coexist in the regulatory region of polyoma.

          B Bourachot, P Herbomel, M Yaniv (1984)
          Two distinct nonoverlapping enhancer elements can be defined within the polyoma enhancer region. In mouse fibroblasts, element A provides a 3-fold higher enhancement of the alpha 2-collagen promoter than element B. In mouse embryonal carcinoma cells, element B shows the same efficiency as in fibroblasts, whereas that of element A decreases by a factor of 3.5. Moreover, a single point mutation (PyEC F9.1) increases the efficiency of element B in both cell types, making it superior to element A in embryonal carcinoma cells. The core of element A is located within a 35 bp region tandem duplicated in several wild-type strains, mostly homologous to a crucial repeated sequence of adenovirus E1a enhancer (Hearing and Shenk, 1983). Element B contains the consensus sequence of Weiher et al. (1982). These two homologies are precisely adjacent to the two DNAase l-hypersensitive sites present in viral chromatin.
          Article 0 comments Cited 27 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: not found
            • Article: not found

            Congenitally Defective Aldosterone Biosynthesis in Humans: Inactivation of the P450C18 Gene (CYP11B2) Due to Nucleotide Deletion in CMO I-Deficient Patients

            Y Mitsuuchi, T. Kawamoto, K. MIYAHARA … (1993)
            Article 0 comments Cited 9 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: not found
              • Article: not found

              Isolated Aldosterone Synthase Deficiency Caused by Simultaneous E198D and V386A Mutations in the CYP11B2 Gene

              S Portrat-Doyen (1998)
              Article 0 comments Cited 7 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (publisher-id): HRE
                Journal ID (nlm-ta): Horm Res Paediatr
                Journal ID (doi): 10.1159/issn.1663-2818
                Title: Hormone Research in Paediatrics
                Publisher: S. Karger AG
                ISSN (Print): 1663-2818
                ISSN (Electronic): 1663-2826
                Publication date Subscription-year: 2003
                Publication date (Print): 2003
                Publication date (Electronic): 19 November 2003
                Volume: 60
                Issue: 5
                Pages: 255-260
                Affiliations
                Departments of aMedical Chemistry, bGeriatrics, and cInternal Medicine, Kochi Medical School, Kochi, dDepartment of Pediatrics, Iwate Medical University, School of Medicine, Iwate, and eKumamoto University School of Medicine, Kumamoto, Japan
                Article
                Publisher ID: 74041 Other ID: Horm Res 2003;60:255–260
                DOI: 10.1159/000074041
                PubMed ID: 14614232
                SO-VID: 701b90cb-b2f6-4b7e-8217-f213e39c74ff
                Copyright © © 2003 S. Karger AG, Basel
                License:

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                Date received : 02 December 2002
                Date accepted : 18 July 2003
                Page count
                Figures: 2, Tables: 1, References: 31, Pages: 6
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Endocrinology & Diabetes,Neurology,Nutrition & Dietetics,Sexual medicine,Internal medicine,Pharmacology & Pharmaceutical medicine
                Keywords: Aldosterone biosynthesis,Congenital hypoaldosteronism,CYP11B2,CMO II deficiency
                Data availability:
                ScienceOpen disciplines: Endocrinology & Diabetes, Neurology, Nutrition & Dietetics, Sexual medicine, Internal medicine, Pharmacology & Pharmaceutical medicine
                Keywords: Aldosterone biosynthesis, Congenital hypoaldosteronism, CYP11B2, CMO II deficiency

                Comments

                Comment on this article

                scite_

                Similar content419

                See all similar

                Cited by3

                See all cited by

                Most referenced authors103

                See all reference authors