|
Autosomal dominant hypocalcemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
In an effort to elucidate the CaSR's skeletal role, bone tissue and material characteristics from patients with autosomal dominant hypocalcemia (ADH), a genetic form of primary hypoparathyroidism caused by CASR gain-of-function mutations, were compared to patients with postsurgical hypoparathyroidism (PSH).
|
30496603 |
2019 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The central importance of the CaSR in Ca2+e homeostasis has been demonstrated by the identification of loss- or gain-of-function CaSR mutations that lead to familial hypocalciuric hypercalcaemia (FHH) or autosomal dominant hypocalcaemia (ADH), respectively.
|
30052933 |
2018 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The first, identified by studying a CASR gain-of-function mutation that causes autosomal dominant hypocalcaemia (ADH), demonstrated a structural motif located between the third transmembrane domain and the second extracellular loop of the CASR that mediates biased signalling by activating a novel β-arrestin-mediated G-protein-independent pathway.
|
29599414 |
2018 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The human calcium-sensing receptor (<i>CASR</i>) is the key controller of extracellular Ca<sub>o</sub><sup>2+</sup> homeostasis, and different mutations in the <i>CASR</i> gene have been linked to different calcium diseases, such as familial hypocalciuric hypercalcemia, severe hyperparathyroidism, autosomal-dominant hypocalcemia (ADH), and Bartter's syndrome type V. In this study, two generations of a family with biochemically and clinically confirmed ADH who suffered severe muscle pain, arthralgia, tetany, abdominal pain, and fatigue were evaluated for mutations in the <i>CASR</i> gene.
|
29743878 |
2018 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Clinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1.
|
28742508 |
2017 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor.
|
27561204 |
2017 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting of autosomal dominant hypocalcemia disorders, sometimes with a presentation of pseudo-Bartter's syndrome.
|
28122587 |
2017 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypocalcemia (ADH) is a rare disorder caused by activating mutations of the calcium-sensing receptor (CASR).
|
26764418 |
2016 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function CASR mutations cause familial hypocalciuric hypercalcaemia (FHH), whereas gain-of-function mutations lead to autosomal dominant hypocalcaemia (ADH).
|
27647839 |
2016 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
|
25766501 |
2015 |
|
Autosomal dominant hypocalcemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).
|
26052899 |
2015 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).
|
25967373 |
2015 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia.
|
25506941 |
2014 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypocalcaemia (ADH) is caused by activating variants in the calcium-sensing receptor (CASR) gene, but detailed information on the paediatric phenotype is limited.
|
25039540 |
2014 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypocalcemia (ADH) types 1 and 2 are due to calcium-sensing receptor (CASR) and G-protein subunit-α11 (GNA11) gain-of-function mutations, respectively, whereas CASR and GNA11 loss-of-function mutations result in familial hypocalciuric hypercalcemia (FHH) types 1 and 2, respectively.
|
24708097 |
2014 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypocalcemia (ADH) is a congenital isolated hypoparathyroidism caused by activating mutations in the calcium-sensing receptor (CASR) gene.
|
24297799 |
2014 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification and characterization of D410E, a novel mutation in the loop 3 domain of CASR, in autosomal dominant hypocalcemia and a therapeutic approach using a novel calcilytic, AXT914.
|
23009664 |
2013 |
|
Autosomal dominant hypocalcemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Cloning of the calcium-sensing receptor (CaSR) along with the recognition that mutations in the CaSR gene are responsible for two familial syndromes characterized by abnormalities in the regulation of PTH secretion and Ca(2+) metabolism (Familial Hypocalciuric Hypercalcemia, FHH, and Autosomal Dominant Hypocalcemia, ADH) made it clear that extracellular Ca(2+) (Ca(2+)o) participates in its own regulation via a specific, receptor-mediated mechanism.
|
23856264 |
2013 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations of the calcium-sensing receptor (CASR) gene have been identified in patients with sporadic or familial autosomal dominant hypocalcemia (ADH).
|
23169696 |
2013 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
|
22789683 |
2012 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
|
22789683 |
2012 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Following the detection of relative hypercalciuria, all cases were found to have autosomal dominant hypocalcaemia with hypercalciuria and mutations of the calcium-sensing receptor gene, of which two were novel.
|
21441391 |
2011 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey.
|
21645025 |
2011 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the primary protein kinase C phosphorylation site in the calcium-sensing receptor causes autosomal dominant hypocalcemia.
|
21135065 |
2011 |
|
Autosomal dominant hypocalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations in the calcium- sensing receptor (CASR).
|
20501971 |
2010 |