rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Structural mechanism of ligand activation in human calcium-sensing receptor.
|
27434672 |
2016 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.
|
26386835 |
2016 |
rs104893689
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.
|
26161261 |
2015 |
rs104893689
|
|
A |
0.810 |
CausalMutation |
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 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.
|
25292184 |
2014 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
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.
|
25104082 |
2014 |
rs104893689
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.
|
24203066 |
2014 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
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 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.
|
21643651 |
2012 |
rs104893689
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor.
|
22798347 |
2012 |
rs104893689
|
|
A |
0.810 |
CausalMutation |
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 |
rs104893689
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet.
|
21289269 |
2011 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia.
|
21566075 |
2011 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude.
|
22114145 |
2011 |
rs104893689
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.
|
18751724 |
2009 |
rs104893689
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
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.
|
19759318 |
2009 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
|
19789209 |
2009 |
rs104893689
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Rescue of calcium-sensing receptor mutants by allosteric modulators reveals a conformational checkpoint in receptor biogenesis.
|
17284438 |
2007 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
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.
|
17698911 |
2007 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
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.
|
17473068 |
2007 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.
|
16740594 |
2006 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
|
15572418 |
2005 |
rs104893689
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.
|
15879434 |
2005 |
rs104893689
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
[Percutaneous tenotomy of achilles tendon in the treatment of congenital clubfeet--a preliminary report].
|
15751724 |
2004 |
rs104893689
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
L-phenylalanine and NPS R-467 synergistically potentiate the function of the extracellular calcium-sensing receptor through distinct sites.
|
12114500 |
2002 |