The completion of the human genome sequence has permitted the identification of additional signaling molecules of many different classes. The impact of this new information on the understanding of the pathophysiology of disease is already evidenced in terms of the ability to predict specific receptors or pathways that might harbor mutations in different disorders. Selected examples of such mutations are cited this chapter, and the reader is referred to other chapters in this section for detailed discussions of these disorders. Although written from a perspective that is grounded in endocrinology, the concepts regarding the receptor classes and signaling pathways are generally applicable to all areas of biology and medicine.
- Amino acids
- nuclear receptor
- phosphotyrosine phosphatases
- transmembrane domain receptors