[Molecular defects in hormone receptors and G proteins in human disorders].

Abstract excerpt

The biological effects of hormones are mediated by plasma membrane and nuclear receptors which transmit extracellular signals to the cytoplasm and nucleus. The mutations in these receptors can affect normal signal transduction with loss-of-function mutations leading to hormone resistance and gain-of-function mutations leading to constitutive activation of signaling pathways. Mutations in plasma membrane are...

Topics

• Cell Membrane
• Endocrine System Diseases
• GTP-Binding Proteins
• Humans
• Mutation
• Receptors, Cell Surface
• Receptors, Cytoplasmic and Nuclear
• Signal Transduction