Condition: Familial benign hypercalcemia


rs1057520791 in CASR gene and Familial benign hypercalcemia PMID 20798521 2010 Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif.

PMID 26963950 2016 Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.

PMID 20972686 2011 Neonatal severe hyperparathyroidism: further clinical and molecular delineation.

PMID 27666534 2016 Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.

PMID 19389809 2009 Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.

PMID 7916660 1993 Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

PMID 17284438 2007 Rescue of calcium-sensing receptor mutants by allosteric modulators reveals a conformational checkpoint in receptor biogenesis.

PMID 12095982 2002 Three adjacent serines in the extracellular domains of the CaR are required for L-amino acid-mediated potentiation of receptor function.

PMID 21239511 2011 Characterization of highly efficacious allosteric agonists of the human calcium-sensing receptor.

PMID 12114500 2002 L-phenylalanine and NPS R-467 synergistically potentiate the function of the extracellular calcium-sensing receptor through distinct sites.

PMID 1889203 1991 An interlingua for electronic interchange of medical information: using frames to map between clinical vocabularies.

PMID 10885494 2000 Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families.

PMID 17974727 2007 Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant.

PMID 11763315 2001 Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia.

PMID 16649980 2006 Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.

PMID 21521328 2011 Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.

PMID 22422767 2012 Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

PMID 19759318 2009 Effect of the calcimimetic R-568 [3-(2-chlorophenyl)-N-((1R)-1-(3-methoxyphenyl)ethyl)-1-propanamine] on correcting inactivating mutations in the human calcium-sensing receptor.

PMID 1302026 1992 The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families.

PMID 7726161 1995 Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.

PMID 23077345 2012 Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.

PMID 12580936 2003 Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation.

PMID 24947037 2014 Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia.

PMID 8878438 1996 However, five missense mutations associated with FBH or NSHPT, (P55L, N178D, P221S, R227L, and V817I) had significantly higher EC50[Ca2+]os of between 5.5 and 9.3 mM (all P < 0.01).

PMID 8675635 1995 Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

PMID 20164288 2010 Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.