INT106127
From wiki-pain
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Sentences Mentioned In
Key: | Protein | Mutation | Event | Anatomy | Negation | Speculation | Pain term | Disease term |
While a heterozygous inactivating CASR mutation leads to FHH, homozygous mutations result in severe neonatal pHPT. | |||||||||||||||
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Subsequently they identified three different CASR mutations, suggesting that they may represent distinct FHH variants with pancreatitis. | |||||||||||||||
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EST matches for CASR, PTHR1 and AVPR2 orthologs can be recovered in Ciona [Additional data file 2: Sheet 2]. | |||||||||||||||
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HHC can be treated or prevented by regular phlebotomy treatments. | |||||||||||||||
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FHH is usually associated with heterozygous inactivating mutations of the CaR gene, whereas NSHPT is usually due to homozygous inactivation of the CaR gene. | |||||||||||||||
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This study reinforces the fact that patients with homozygous inactivation of the CaR gene may present with severe hypercalcemia in different phases of life. | |||||||||||||||
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In the present study its involvement in the effects of calcium was examined by using a CaR agonist and a CaR antagonist. | |||||||||||||||
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In this study, we report a novel inactivating mutation of the CaR gene, identified in a 9-yr-old Brazilian girl who was found to be severely hypercalcemic during investigation of a 6-month history of headaches and vomits. | |||||||||||||||
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