2006
DOI: 10.1590/s0004-27302006000400008
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Abstract: The calcium-sensing receptor (CASR) adjusts the extracellular calcium set point regulating PTH secretion and renal calcium excretion. The receptor is expressed in several tissues and is also involved in other cellular functions such as proliferation, differentiation and other hormonal secretion. High extracellular calcium levels activate the receptor resulting in modulation of several signaling pathways depending on the target tissues. Mutations in the CASR gene can result in gain or loss of receptor function.… Show more

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Cited by 58 publications
(44 citation statements)
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“…This clinical case confirms that differential diagnosis of mild hypercalcemia associated with normal-to-high PTH can be difficult and is still a challenge for endocrinologists. This is in line with a previous study reporting that in 23% of patients with undiagnosed mutations in the CASR gene, surgical exploration of the neck was undertaken as part of the diagnostic workup (26). Several reports in the literature showed that atypical presentation of FHH is not a rare finding.…”
Section: Discussionsupporting
confidence: 90%
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“…This clinical case confirms that differential diagnosis of mild hypercalcemia associated with normal-to-high PTH can be difficult and is still a challenge for endocrinologists. This is in line with a previous study reporting that in 23% of patients with undiagnosed mutations in the CASR gene, surgical exploration of the neck was undertaken as part of the diagnostic workup (26). Several reports in the literature showed that atypical presentation of FHH is not a rare finding.…”
Section: Discussionsupporting
confidence: 90%
“…On the other hand, activating mutations have been described in the context of ADH and type V Bartter syndrome (see http://www.casrdb.mcgill.ca). Taking into account the last 6 years, about 36 CASR gene mutations have been described (25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38), with 34 being inactivating and two activating. Among them, most have been found in exons 4 and 7.…”
Section: Discussionmentioning
confidence: 99%
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