×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Structural mechanism of ligand activation in human calcium-sensing receptor.
27434672
2016
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
26963950
2016
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
27666534
2016
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases.
27390877
2016
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
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.
25091521
2015
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
25766501
2015
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.
26161261
2015
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.
24203066
2014
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia.
24947037
2014
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
GeneticVariation
disease
CLINVAR
Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia.
24297799
2014
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
GeneticVariation
disease
BEFREE
Most cases of autosomal dominant hypoparathyroidism (ADH) are caused by gain-of-function mutations in CASR or dominant inhibitor mutations in GCM2 or PTH.
24823460
2014
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
AlteredExpression
disease
BEFREE
DNA sequence analysis of the CASR gene was undertaken in autosomal dominant hypoparathyroidism and familial hypocalciuric hypercalcemia Japanese patients, and the functional consequences for the Gi-MAPK pathway and cell surface expression of CASR were determined.
23966241
2013
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
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.
23966241
2013
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
GeneticVariation
disease
CLINVAR
Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor.
22798347
2012
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor.
22798347
2012
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
22422767
2012
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.
23077345
2012
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.
21521328
2011
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Neonatal severe hyperparathyroidism: further clinical and molecular delineation.
20972686
2011
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
GeneticVariation
disease
CLINVAR
Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey.
21645025
2011
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet.
21289269
2011
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
GeneticVariation
disease
CLINVAR
Characterization of highly efficacious allosteric agonists of the human calcium-sensing receptor.
21239511
2011
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
CausalMutation
disease
CLINVAR
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.
20164288
2010
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
GeneticVariation
disease
CLINVAR
Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif.
20798521
2010
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
0.190
GeneticVariation
disease
BEFREE
Glial cells missing -2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism .
18712808
2009