Novel mutations associated with inherited human calcium-sensing receptor disorders: a clinical genetic study.

08:00 EDT 1st November 2018 | BioPortfolio

Summary of "Novel mutations associated with inherited human calcium-sensing receptor disorders: a clinical genetic study."

Molecular diagnosis is a useful diagnostic tool in calcium metabolism disorders. The calcium-sensing receptor (CaSR) is known to play a central role in the regulation of extracellular calcium homeostasis. We performed clinical, biochemical and genetic characterization of sequence anomalies in this receptor in a cohort of 130 individuals from 82 families with suspected alterations in the CASR gene, one of the largest series described.


Journal Details

This article was published in the following journal.

Name: European journal of endocrinology
ISSN: 1479-683X


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Medical and Biotech [MESH] Definitions

A class of G-protein-coupled receptors that react to varying extracellular CALCIUM levels. Calcium-sensing receptors in the PARATHYROID GLANDS play an important role in the maintenance of calcium HOMEOSTASIS by regulating the release of PARATHYROID HORMONE. They differ from INTRACELLULAR CALCIUM-SENSING PROTEINS which sense intracellular calcium levels.

Intracellular signaling peptides and proteins that bind to CALCIUM. They undergo allosteric changes when bound to CALCIUM that affects their interaction with other signal-transducing molecules. They differ from CALCIUM-SENSING RECEPTORS which sense extracellular calcium levels.

A family of intracellular calcium-sensing proteins found predominately in NEURONS and PHOTORECEPTOR CELLS. They contain EF HAND MOTIFS and undergo conformational changes upon calcium-binding. Neuronal calcium-sensor proteins interact with other regulatory proteins to mediate physiological responses to a change in intracellular calcium concentration.

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