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International Journal of Molecular Medicine
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Print ISSN: 1107-3756 Online ISSN: 1791-244X
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December 2004 Volume 14 Issue 6

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International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

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Medicine International

An International Open Access Journal Devoted to General Medicine.

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December 2004 Volume 14 Issue 6

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Article

Pseudohypoaldosteronism type 1 and the genes encoding prostasin, α-spectrin, and Nedd4

  • Authors:
    • Michael Ludwig
    • Frank Bidlingmaier
    • Annette Reissinger
  • View Affiliations / Copyright

    Affiliations: Department of Clinical Biochemistry, University of Bonn, 53105 Bonn, Germany. mludwig@uni-bonn.de
  • Pages: 1101-1104
    |
    Published online on: December 1, 2004
       https://doi.org/10.3892/ijmm.14.6.1101
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Abstract

Pseudohypoaldosteronism type 1 (PHA1), a rare disorder of infancy, presents with potential life-threatening salt wasting and failure to thrive. Thus far, PHA1 has been attributed to mutations affecting the mineralocorticoid receptor or any of the three subunits assembling the amiloride-sensitive epithelial sodium channel (ENaC). However, a lot of patients with a phenotype resembling PHA1, show no defects in these proteins, making it likely that further genes are involved in the aetiology of this disease. Recent studies have elucidated additional participants (α-spectrin and members of the families of transmembrane serine proteases, ubiquitin-protein ligases, and serum- and glucocorticoid-regulated kinases, respectively) regulating and/or interacting in the complex pathway of sodium retention in the amiloride-sensitive distal nephron. This led us to investigate whether PHA1 can also be associated with mutations in some of these genes. Our data suggest that at least the prostasin gene might be excluded as a causative locus.

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Copy and paste a formatted citation
Spandidos Publications style
Ludwig M, Bidlingmaier F and Reissinger A: Pseudohypoaldosteronism type 1 and the genes encoding prostasin, α-spectrin, and Nedd4. Int J Mol Med 14: 1101-1104, 2004.
APA
Ludwig, M., Bidlingmaier, F., & Reissinger, A. (2004). Pseudohypoaldosteronism type 1 and the genes encoding prostasin, α-spectrin, and Nedd4. International Journal of Molecular Medicine, 14, 1101-1104. https://doi.org/10.3892/ijmm.14.6.1101
MLA
Ludwig, M., Bidlingmaier, F., Reissinger, A."Pseudohypoaldosteronism type 1 and the genes encoding prostasin, α-spectrin, and Nedd4". International Journal of Molecular Medicine 14.6 (2004): 1101-1104.
Chicago
Ludwig, M., Bidlingmaier, F., Reissinger, A."Pseudohypoaldosteronism type 1 and the genes encoding prostasin, α-spectrin, and Nedd4". International Journal of Molecular Medicine 14, no. 6 (2004): 1101-1104. https://doi.org/10.3892/ijmm.14.6.1101
Copy and paste a formatted citation
x
Spandidos Publications style
Ludwig M, Bidlingmaier F and Reissinger A: Pseudohypoaldosteronism type 1 and the genes encoding prostasin, α-spectrin, and Nedd4. Int J Mol Med 14: 1101-1104, 2004.
APA
Ludwig, M., Bidlingmaier, F., & Reissinger, A. (2004). Pseudohypoaldosteronism type 1 and the genes encoding prostasin, α-spectrin, and Nedd4. International Journal of Molecular Medicine, 14, 1101-1104. https://doi.org/10.3892/ijmm.14.6.1101
MLA
Ludwig, M., Bidlingmaier, F., Reissinger, A."Pseudohypoaldosteronism type 1 and the genes encoding prostasin, α-spectrin, and Nedd4". International Journal of Molecular Medicine 14.6 (2004): 1101-1104.
Chicago
Ludwig, M., Bidlingmaier, F., Reissinger, A."Pseudohypoaldosteronism type 1 and the genes encoding prostasin, α-spectrin, and Nedd4". International Journal of Molecular Medicine 14, no. 6 (2004): 1101-1104. https://doi.org/10.3892/ijmm.14.6.1101
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