Gene: CASR

Alternate names for this Gene: CAR|EIG8|FHH|FIH|GPRC2A|HHC|HHC1|HYPOC1|NSHPT|PCAR1|hCasR

Gene Summary: The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.

Gene is located in Chromosome: 3

Location in Chromosome : 3q13.33-q21.1

Description of this Gene: calcium sensing receptor

Type of Gene: protein-coding

rs10222633 in CASR gene and Calcium level result PMID 20705733 2010 Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.

PMID 20661308 2010 Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.

PMID 24068962 2013 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.

rs10222633 in CASR gene and Calcium measurement PMID 20705733 2010 Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27897004 2017 IDENTIFYING GENETIC ASSOCIATIONS WITH VARIABILITY IN METABOLIC HEALTH AND BLOOD COUNT LABORATORY VALUES: DIVING INTO THE QUANTITATIVE TRAITS BY LEVERAGING LONGITUDINAL DATA FROM AN EHR.

PMID 24068962 2013 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.

PMID 20661308 2010 The top hit with a p-value of 6.3 x 10(-37) is rs1801725, a missense variant, explaining 1.26% of the variance in serum calcium.

rs2134223 in CASR gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

rs1553766262 in CASR gene and Dysmorphic features PMID 26855056 2016 Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.

PMID 28122587 2017 Diseases associated with calcium-sensing receptor.

PMID 20846291 2010 A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.

rs121909269 in CASR gene and EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 PMID 18756473 2008 An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.

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.

rs104893689 in CASR gene and Feeding intolerance PMID 15751724 2004 [Percutaneous tenotomy of achilles tendon in the treatment of congenital clubfeet--a preliminary report].

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 791660 1976 A comparison of the abilities of typical neuroleptic agents and of thioridazine, clozapine, sulpiride and metoclopramide to antagonise the hyperactivity induced by dopamine applied intracerebrally to areas of the extrapyramidal and mesolimbic systems.

PMID 8702647 1996 Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.

rs104893690 in CASR gene and HYPERPARATHYROIDISM, NEONATAL SEVERE PMID 8878438 1996 Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

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

PMID 14985373 2004 Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

PMID 9253359 1997 Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism.

PMID 15572418 2005 Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.

PMID 27434672 2016 Structural mechanism of ligand activation in human calcium-sensing receptor.

PMID 17555508 2007 Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.

PMID 24854525 2014 A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.

rs104893691 in CASR gene and HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 PMID 10487661 1999 Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.

PMID 12574188 2003 Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.

PMID 12107202 2002 Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.

PMID 12241879 2002 Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.

PMID 22789683 2012 CASR gene activating mutations in two families with autosomal dominant hypocalcemia.

PMID 15551332 2005 A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia.

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

PMID 7874174 1994 Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.

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

PMID 12915654 2003 Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.

PMID 12050233 2002 A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.

PMID 8813042 1996 A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

PMID 8702647 1996 Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.

PMID 8733126 1996 Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.

PMID 16608894 2006 A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.

PMID 23169696 2013 Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

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 9661634 1998 Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.

PMID 9253358 1997 Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.

PMID 9920108 1999 A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.

rs104893689 in CASR gene and Hypercalcemia PMID 791660 1976 A comparison of the abilities of typical neuroleptic agents and of thioridazine, clozapine, sulpiride and metoclopramide to antagonise the hyperactivity induced by dopamine applied intracerebrally to areas of the extrapyramidal and mesolimbic systems.

PMID 8702647 1996 Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.

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 15751724 2004 [Percutaneous tenotomy of achilles tendon in the treatment of congenital clubfeet--a preliminary report].

rs104893689 in CASR gene and Hypocalciuric hypercalcemia, familial, type 1 PMID 8702647 1996 Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.

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

PMID 15879434 2005 Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.

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 11762699 2001 A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.

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 9298824 1997 A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.

PMID 15751724 2004 [Percutaneous tenotomy of achilles tendon in the treatment of congenital clubfeet--a preliminary report].

PMID 8636323 1996 Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.

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

PMID 16740594 2006 Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.

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

PMID 19789209 2009 A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.

PMID 18751724 2009 Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.

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 21566075 2011 A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia.

PMID 21643651 2012 Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.

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 17698911 2007 Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.

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

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 22114145 2011 Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude.

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

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 15572418 2005 Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.

PMID 25104082 2014 Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.

PMID 791660 1976 A comparison of the abilities of typical neuroleptic agents and of thioridazine, clozapine, sulpiride and metoclopramide to antagonise the hyperactivity induced by dopamine applied intracerebrally to areas of the extrapyramidal and mesolimbic systems.

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

PMID 17473068 2007 Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.

PMID 7673400 1995 Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.

PMID 27434672 2016 Structural mechanism of ligand activation in human calcium-sensing receptor.

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

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

PMID 26386835 2016 Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.

PMID 25292184 2014 A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.

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

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

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

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

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

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

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

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

PMID 16740594 2006 To address this issue, we have analyzed wild-type and mutant CASRs harboring R66H, R66C or N583X-inactivating mutations identified in familial hypocalciuric hypercalcemia/neonatal severe hyperparathyroid patients, which were transiently expressed in kidney cells.

PMID 16740594 2006 To address this issue, we have analyzed wild-type and mutant CASRs harboring R66H, R66C or N583X-inactivating mutations identified in familial hypocalciuric hypercalcemia/neonatal severe hyperparathyroid patients, which were transiently expressed in kidney cells.

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

rs121909264 in CASR gene and Hypoparathyroidism PMID 7726161 1995 Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.

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.

rs104893689 in CASR gene and Irritable Mood 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 15751724 2004 [Percutaneous tenotomy of achilles tendon in the treatment of congenital clubfeet--a preliminary report].

PMID 8702647 1996 Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.

PMID 791660 1976 A comparison of the abilities of typical neuroleptic agents and of thioridazine, clozapine, sulpiride and metoclopramide to antagonise the hyperactivity induced by dopamine applied intracerebrally to areas of the extrapyramidal and mesolimbic systems.

rs7627468 in CASR gene and Kidney Calculi PMID 26272126 2015 Common and rare variants associated with kidney stones and biochemical traits.

rs1042636 in CASR gene and Psoriasis PMID 25854761 2015 Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.

rs121909264 in CASR gene and Serum calcium increased PMID 7726161 1995 Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.

rs104893689 in CASR gene and Single umbilical artery PMID 15751724 2004 [Percutaneous tenotomy of achilles tendon in the treatment of congenital clubfeet--a preliminary report].

PMID 791660 1976 A comparison of the abilities of typical neuroleptic agents and of thioridazine, clozapine, sulpiride and metoclopramide to antagonise the hyperactivity induced by dopamine applied intracerebrally to areas of the extrapyramidal and mesolimbic systems.

PMID 8702647 1996 Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.

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.

rs104893689 in CASR gene and Vomiting PMID 15751724 2004 [Percutaneous tenotomy of achilles tendon in the treatment of congenital clubfeet--a preliminary report].

PMID 791660 1976 A comparison of the abilities of typical neuroleptic agents and of thioridazine, clozapine, sulpiride and metoclopramide to antagonise the hyperactivity induced by dopamine applied intracerebrally to areas of the extrapyramidal and mesolimbic systems.

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 8702647 1996 Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.