|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a case that presented with asymptomatic, familial hypercalcemia but low PTH and normal (non-low) urinary calcium excretion found to be secondary to a novel pathogenic inactivating mutation of the CaSR gene.
|
31641801 |
2020 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We expanded the spectrum of CASR variants in hypercalcemia with 18 novel variants, and suggest that the location of the CASR variant may affect calcium excretion as determined by the CCCR.
|
31433865 |
2019 |
|
Hypercalcemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
A positive allosteric modulator of CaSR, cinacalcet, which targets its transmembrane domain, overcame this autoantibody effect and successfully corrected the hypercalcemia in this patient.
|
30996138 |
2019 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Conclusions Patients with CASR mutations may not fit the classic clinical pictures of hypercalcemia with hypocalciuria or hypocalcemia with hypercalciuria.
|
30407919 |
2019 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To illustrate investigations and management of parathyroid-related hypercalcaemia, we present a selection of distinct cases of PHPT due to eutopic and ectopic parathyroid adenomas, as well as a case with a syndromic form of PHPT (multiple endocrine neoplasia type 1), and a case with FHH type 1 due to a CASR inactivating mutation.
|
31797261 |
2019 |
|
Hypercalcemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
We hypothesized that additional rare AP2σ variants may also be associated with altered CaSR function and hypercalcaemia, and sought for these by analysing >111 995 exomes (>60 706 from ExAc and dbSNP, and 51 289 from the Geisinger Health System-Regeneron DiscovEHR dataset, which also contains clinical data).
|
29325022 |
2018 |
|
Hypercalcemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
While hypercalcemia in other conditions causes significant morbidity and mortality, FHH generally follows a benign course.
|
30449544 |
2018 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, our studies, which report a novel Gα<sub>11</sub> germline mutation (Phe220Ser) in a family with FHH2, reveal the importance of the Gα<sub>11</sub> hydrophobic cleft region for CaSR-mediated activation of PLC, and show that allosteric CaSR modulation can rectify the loss-of-function Phe220Ser mutation and ameliorate the hypercalcemia associated with FHH2.© 2017 The Authors.
|
28833550 |
2018 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) or homozygous (severe neonatal hyperparathyroidism).
|
28122587 |
2017 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The detection of CaSR gene mutations is suitable to differentiate states of hypercalcemia and may help to avoid invasive procedures such as parathyroidectomies.
|
27926951 |
2017 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.
|
26855056 |
2016 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function variants in the gene encoding the calcium-sensing receptor (CASR) result in familial hypocalciuric hypercalcemia (FHH), causing hypercalcemia with high normal or elevated parathyroid hormone levels.
|
27418061 |
2016 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic causes of hypercalcemia involve familial hypocalciuric hypercalcemia associated with an inactivation mutation in the calcium sensing receptor gene and/or a mutation in the CYP24A1 gene.
|
26596315 |
2016 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The fetus is hypercalcemic compared to the mother and here we show that in the developing human lung this hypercalcaemia acts on the extracellular calcium-sensing receptor, CaSR, to promote fluid-driven lung expansion through activation of the cystic fibrosis transmembrane conductance regulator, CFTR.
|
26911344 |
2016 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.
|
25292184 |
2014 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The NSHPT associated with biallelic Gly768Val mutations of the CASR in two siblings with severe hypercalcemia and hyperparathyroidism and their clinically and biochemically normal heterozygous parents was transmitted as an autosomal recessive disorder in this family.
|
24854525 |
2014 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel inactivating mutation of the calcium-sensing receptor in a young woman with mild hypercalcaemia.
|
24754691 |
2014 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function calcium-sensing receptor (CAR) mutations cause elevated parathyroid hormone (PTH) secretion and hypercalcaemia.
|
23612447 |
2013 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Neonatal hypercalcemia due to a homozygous mutation in the calcium-sensing receptor: failure of cinacalcet.
|
23817301 |
2013 |
|
Hypercalcemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our findings confirm the role of CASR gene mutational analysis to offer a valuable addition for the recognition of FHH in hypercalcemic patients not yet characterized for a positive familial history of hypercalcemia, the only condition that identifies CASR gene mutations in hypercalcemia.
|
22315359 |
2012 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypocalciuric hypercalcemia is an uncommon cause of hypercalcemia that arises from mutations in the calcium-sensing receptor gene.
|
21643651 |
2012 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
DESIGN AND PATIENTS CaSR gene mutations were analysed and clinical and biochemical parameters evaluated in 139 consecutive outpatients presenting with hypercalcaemia and suspected of having HPT.
|
21521328 |
2011 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
FHH is caused by inactivating mutations in the calcium sensing receptor (CASR) gene leading to a general calcium-hyposensitivity, compensatory hypercalcaemia and hypocalciuria.
|
21986511 |
2011 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The identification of this novel CASR gene mutation established the basis of hypercalcemia in this family and allowed a genetic counseling.
|
21468522 |
2011 |
|
Hypercalcemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, a single nucleotide polymorphism in CaR identified from a hypercalcemia-inducing lung SCC reduced the receptor's activation threshold leading to increased PTHrP expression and secretion.
|
21532883 |
2011 |