Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia

Article Abstract:

Jansen's metaphyseal chondrodysplasia appears to be caused by a mutation in the gene for the receptor for parathyroid hormone and parathyroid hormone-related peptide. This bone disease is characterized by short stature and elevated blood calcium levels. Researchers found a previously reported mutation in three patients with Jansen's metaphyseal chondrodysplasia but not in their healthy relatives or 45 unrelated volunteers. One other patient had a different mutation in the receptor gene that has not been described before. These mutations cause the receptor to be constantly active, even in the absence of the hormones.

Health aspects, Gene mutations, Gene mutation, Bone diseases, Parathyroid hormone, Parathyroid hormones, Hormone receptors

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Translational implications of the parathyroid calcium receptor

Article Abstract:

Calcium-sensing receptor (CaSR) is represented by the seven-transmembrane-spanning G protein-coupled receptors on the surface of the parathyroid cell. The discovery and research about the calcium-sensing receptor serves as a paradigm for translational research.

Science & research, Research, Receptor antibodies, Parathyroid diseases

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HRPT2, a marker of parathyroid cancer

Article Abstract:

A mutation in the HRPT2 gene may distinguish between benign parathyroid tumors and parathyroid cancer. This gene appears to be a tumor suppressor gene. It produces a protein called parafibromin, but the exact function of this protein is unknown.

Tumor suppressor genes, Endocrine gland tumors, Tumour suppressor genes, Endocrine gland tumours

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