|
Hypoparathyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Immune Checkpoint Inhibitor-Induced Hypoparathyroidism Associated With Calcium-Sensing Receptor-Activating Autoantibodies.
|
30252069 |
2019 |
|
Hypoparathyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
This is the first demonstration of CaSR antibody-mediated hypoparathyroidism responsive to immunosuppressive therapy, adding to the evidence that autoimmune hypoparathyroidism can be, in some cases, reversible and not the result of autoimmune parathyroid destruction.
|
30358904 |
2019 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism.
|
29846619 |
2018 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a female infant with hypoparathyroidism due to an activating mutation in the calcium-sensing receptor gene.
|
25227206 |
2015 |
|
Hypoparathyroidism
|
0.500 |
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 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of the candidate genes for isolated hypoparathyroidism encoding calcium-sensing receptor, parathyroid hormone, and glial cells missing homolog B did not reveal any mutations.
|
25367057 |
2014 |
|
Hypoparathyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Data on calcium-sensing receptor autoantibodies (CaSRAbs) in hypoparathyroidism are variable.
|
23873991 |
2013 |
|
Hypoparathyroidism
|
0.500 |
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 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In particular, the mouse models generated for parathyroid disorders, which include: the multiple endocrine neoplasias; hyperparathyroidism-jaw tumour syndrome; disorders of the calcium-sensing receptor and forms of inherited hypoparathyroidism are discussed.
|
21765099 |
2011 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypocalcemia (ADH) is an inherited form of hypoparathyroidism caused by activating mutations in the calcium-sensing receptor (CaR).
|
19063686 |
2009 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In contrast, we do not find causal sequence variants of the CaSR gene from our collection of familial hypoparathyroidism.
|
16912130 |
2006 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A case of gain-of-function mutation in calcium-sensing receptor: supplemental hydration is required for renal protection.
|
15960151 |
2005 |
|
Hypoparathyroidism
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In gain-of-function CaSR mutations, the genetic abnormalities increase CaSR activity leading to the development of such clinical manifestations as hypercalciuric hypocalcemia and hypoparathyroidism.
|
15960151 |
2005 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism.
|
14677060 |
2004 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Prevalence of calcium sensing receptor autoantibodies in patients with sporadic idiopathic hypoparathyroidism.
|
14713274 |
2004 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function CaSR mutations have been shown to result in autosomal dominant hypocalcaemia with hypercalciuria (ADHH) and Bartter's syndrome type V. CaSR auto-antibodies have been found in FHH patients who did not have loss-of-function CaSR mutations, and in patients with an acquired form (i.e. autoimmune) of hypoparathyroidism.
|
15200151 |
2004 |
|
Hypoparathyroidism
|
0.500 |
Biomarker
|
disease |
BEFREE |
The calcium sensing receptor (CaSR) plays a pivotal role in extracellular calcium homeostasis and is the candidate autoantigen in hypoparathyroidism associated with autoimmune polyglandular endocrinopathy syndrome.
|
14713274 |
2004 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
De novo activating mutations in the calcium-sensing receptor (CASR) gene are a common cause of sporadic isolated hypoparathyroidism.
|
12915654 |
2003 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Therefore, careful monitoring of urinary Ca excretion before and during treatment of PTH-deficient hypoparathyroidism is very important, and screening of CaSR mutation should be considered in patients with relative hypercalciuria or with a family history of hypocalcemia.
|
12733714 |
2003 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Because thiazide diuretics have been successfully used to treat patients with hypercalciuria and hypoparathyroidism, they are theoretically useful in reducing urine calcium excretion and maintaining serum calcium levels in patients with gain-of-function mutations of the CaR gene.
|
12107202 |
2002 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To date about 20 activating mutations in the calcium-sensing receptor (CaR) gene have been identified to cause autosomal dominant hypocalcemia (ADH) or sporadic hypoparathyroidism.
|
12050233 |
2002 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, mutational analysis of the CaR gene should be considered early in the work-up of isolated hypoparathyroidism.
|
11701698 |
2001 |
|
Hypoparathyroidism
|
0.500 |
Biomarker
|
disease |
CTD_human |
Activating mutations of the calcium-sensing receptor: management of hypocalcemia.
|
11701698 |
2001 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the extracellular calcium (Ca2+e)-sensing receptor (CaR) gene, mostly in its extracellular domain, can cause both familial and sporadic hypoparathyroidism.
|
9661634 |
1998 |
|
Hypoparathyroidism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the Ca(2+)-sensing receptor (CaR) gene have been identified in families with autosomal dominant hypoparathyroidism and in one patient with sporadic hypoparathyroidism.
|
9253358 |
1997 |