|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
|
25766501 |
2015 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
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 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
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 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results affirm that a significant number of patients suspected of having FHH but proven negative for CASR mutation have AP2S1 p.R15 mutations.
|
24731014 |
2014 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous inactivating mutations of the calcium-sensing receptor (CaSR) gene cause alterations in calcium metabolism [familial hypocalciuric hypercalcemia (FHH)].
|
24947037 |
2014 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
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 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The role of activating and inactivating calcium-sensing receptor (CaSR) mutations is discussed in detail with respect to familial hypocalciuric hypercalcemia (FHH) and autosomal dominant hypocalemia (ADH).
|
25150870 |
2014 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia.
|
24947037 |
2014 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Functional capacity of CaSRQ459R and CaSR mutants causing FHH (Q27R, P39A, S417C) or neonatal severe hyperparathyroidism (W718X) was assessed.
|
24517148 |
2014 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
FHH should be clearly differentiated by PHPT to avoid unnecessary surgery: CCCR could be a useful screening tool while genetic analysis should include the two novel CaSR mutations herein described.
|
25104082 |
2014 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with an FHH phenotype were studied with polymerase chain reaction amplification and direct sequencing of the entire CaSR, GNA11 and AP2S1 coding sequences.
|
25104082 |
2014 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
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 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.
|
24203066 |
2014 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.
|
25292184 |
2014 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report two novel CASR mutations affecting the same amino acid (p.N802); one causes ADH and the other atypical FHH.
|
23169696 |
2013 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
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 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
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 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
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 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
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 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations, on the other hand, result in the hypocalcemic disorders of autosomal dominant hypocalcemia and Bartter syndrome type V. Moreover, autoantibodies directed against the extracellular domain of the CaSR have been found to be associated with FHH in some patients, and also in some patients with hypoparathyroidism that may be part of autoimmune polyglandular syndrome type 1.
|
23856265 |
2013 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
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 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe the clinical and genetic findings in pedigree with a novel mutation in the calcium sensing receptor (CaSR) gene and the unusual coexistence of primary hyperparathyroidism (HPT) and familial hypocalciuric hypercalcaemia (FHH) and its clinical management.
|
23081733 |
2013 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here, we report two novel CASR mutations affecting the same amino acid (p.N802); one causes ADH and the other atypical FHH.
|
23169696 |
2013 |
|
Hypocalciuric hypercalcemia, familial, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By contrast, more common heterozygous CASR mutations are generally associated with a benign variant of PHPT termed familial hypocalciuric hypercalcemia.
|
22989537 |
2012 |