Variant: rs104893689 

    present in Gene: CASR
    present in Chromosome: 3
    Position on Chromosome: 122261589
    Alleles of this Variant: G/A;C

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.

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.

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.

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.

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.