Condition: Hypoparathyroidism - autosomal dominant


rs104893689 in CASR gene and Hypoparathyroidism - autosomal dominant 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 18751724 2009 Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.

PMID 21289269 2011 Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet.

PMID 25091521 2015 Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation.

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

PMID 22798347 2012 Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor.

PMID 26161261 2015 Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.

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

PMID 9011580 1997 In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.

PMID 24203066 2014 Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.

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 20798521 2010 Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif.

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

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

PMID 8878438 1996 Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

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

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

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

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

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

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

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

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

PMID 16642557 2006 A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.

PMID 19423559 2009 Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager.

PMID 27434672 2016 Structural mechanism of ligand activation in 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 1889203 1991 An interlingua for electronic interchange of medical information: using frames to map between clinical vocabularies.

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

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 9395465 1997 The carboxyl terminus of the human calcium receptor. Requirements for cell-surface expression and signal transduction.

PMID 25766501 2015 Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.

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

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

PMID 23966241 2013 Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.

PMID 20034274 2009 Two novel mutations causing familial benign hypocalciuric hypercalcaemia in three Scottish families.

PMID 15241688 2004 Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy.

PMID 11134112 2000 Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?

PMID 24297799 2014 Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia.

PMID 21645025 2011 Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey.

PMID 27390877 2016 Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases.