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Related Experiment Videos

Nuclear receptors: structure, function and involvement in disease

S Tenbaum1, A Baniahmad

  • 1Genetisches Institut der Justus-Liebig Universität, Giessen, Germany.

The International Journal of Biochemistry & Cell Biology
|May 7, 1998
PubMed
Summary
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Nuclear hormone receptors regulate gene expression. Mutations in these receptors cause human syndromes and are linked to cancer progression, impacting hormonal response.

Area of Science:

  • Molecular Biology
  • Genetics
  • Endocrinology

Background:

  • Nuclear hormone receptors function as transcription factors, regulating gene expression in response to hormones.
  • Hormones modulate receptor activity, which bind to DNA via their DNA-binding domain on hormone response elements.
  • These receptors interact with lipophilic hormones, linking endocrine signaling to gene expression in target tissues.

Purpose of the Study:

  • To provide an overview of nuclear receptors and their naturally occurring mutant forms.
  • To examine the structural-functional relationships of these receptors and their mutants.
  • To understand the molecular-level effects of receptor mutations on human health.

Main Methods:

  • Review of existing literature on nuclear hormone receptors and their mutations.

Related Experiment Videos

  • Analysis of structural-functional relationships in receptor mutants.
  • Discussion of functional aberrations in specific nuclear receptors and the orphan receptor DAX1.
  • Main Results:

    • Identification of numerous naturally occurring mutations in nuclear hormone receptor genes.
    • Association of these mutations with human syndromes and cancer progression.
    • Detailed discussion of the molecular effects of mutations on receptor function.

    Conclusions:

    • Mutations in nuclear hormone receptors significantly impact human health, leading to hormonal response abnormalities, syndromes, and cancer.
    • Understanding the structural-functional basis of these mutations is crucial for comprehending their pathological effects.
    • This review highlights the critical role of nuclear hormone receptors in health and disease.