|
Familial benign hypercalcemia
|
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 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The second, in which the mechanism by which adaptor protein-2 σ-subunit (AP2σ) mutations cause familial hypocalciuric hypercalcaemia (FHH) was investigated, demonstrated that AP2σ mutations impair CASR internalisation and reduce multiple CASR-mediated signalling pathways.
|
29599414 |
2018 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the sigma subunit of the heterotetrameric adaptor-related protein complex 2 (AP2σ) impair signalling of the calcium-sensing receptor (CaSR), and cause familial hypocalciuric hypercalcaemia type 3 (FHH3).
|
29325022 |
2018 |
|
Familial benign hypercalcemia
|
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 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
|
28222409 |
2016 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric hypercalcaemia (FHH).
|
26158657 |
2016 |
|
Familial benign hypercalcemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
|
27666534 |
2016 |
|
Familial benign hypercalcemia
|
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 |
|
Familial benign hypercalcemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
|
26963950 |
2016 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The cardiovascular system in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene.
|
27418061 |
2016 |
|
Familial benign hypercalcemia
|
0.700 |
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 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CaSR gene may lead to specific parathyroid disorders due to either gain-of-function (autosomal dominant hypercalciuric hypocalcemia; ADHH) or loss-of-function (familial hypocalciuric hypercalcemia; FHH).
|
25091521 |
2015 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Urinary calcium to creatinine clearance ratio was low, and a subsequent genetic analysis confirmed a novel mutation (Q164K) in the calcium sensing receptor gene, consistent with familial hypocalciuric hypercalcaemia.
|
24754691 |
2014 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.
|
24731014 |
2014 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Neonatal severe primary hyperparathyroidism (NSHPT, MIM 239200) is most often an isolated disorder that is due to biallelic inactivating mutations in the CASR, the gene encoding the calcium sensing receptor; NSHPT is inherited from parents with familial hypocalciuric hypercalcemia, each of whom has one mutated CASR allele.
|
24854525 |
2014 |
|
Familial benign hypercalcemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia.
|
24947037 |
2014 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations of the calcium-sensing receptor (CaSR), of the G-protein subunit α11 (GNA11) and of the adaptor-related protein complex 2, sigma 1 subunit (AP2S1) genes are responsible for familial hypocalciuric hypercalcaemia (FHH).
|
25104082 |
2014 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Primary hyperparathyroidism in a patient with familial hypocalciuric hypercalcaemia due to a novel mutation in the calcium-sensing receptor gene.
|
23081733 |
2013 |
|
Familial benign hypercalcemia
|
0.700 |
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 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
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 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Muscle function and quality of life are not impaired in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene (CASR).
|
23764372 |
2013 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We performed GNA11 mutational analysis in a kindred with familial hypocalciuric hypercalcemia type 2 and in nine unrelated patients with familial hypocalciuric hypercalcemia who did not have mutations in the gene encoding the calcium-sensing receptor (CASR) or AP2S1.
|
23802516 |
2013 |
|
Familial benign hypercalcemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.
|
23077345 |
2012 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
(5) Explaining novel features, such as the CASR gene encoding a membrane calcium-sensing receptor and its mutations resulting in nonsuppressed parathyroid hormone secretion uncoupled from proliferation, characterized familial hypocalciuric hypercalcemia.
|
21454225 |
2012 |
|
Familial benign hypercalcemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT) or autosomal dominant hypocalcaemic hypercalciuria (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.
|
22422767 |
2012 |