Hypoparathyroidism
|
0.400 |
Biomarker
|
disease |
BEFREE |
He had normal hemoglobin, electroencephalogram, and skeletal survey, with negative autoantibodies to alpha and omega interferons and negative genetic testing for Glial Cell Missing 2 (GCM2) and calcium-sensing receptors (CaSRs) excluding known causes of hypoparathyroidism.
|
28422826 |
2017 |
Hypoparathyroidism
|
0.400 |
Biomarker
|
disease |
BEFREE |
Gcm2 protein was not detected after transfection, suggesting that complete lack of Gcm2 action accounts for severe hypoparathyroidism.
|
23155703 |
2012 |
Hypoparathyroidism
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
GCMB is a parathyroid-specific transcription factor, which causes hypoparathyroidism when inactivated on both parental alleles or when a dominant-negative, heterozygous mutation is present.
|
21642377 |
2011 |
Hypoparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Thus, our results, which expand the spectrum of hypoparathyroidism-associated GCMB mutations, help elucidate the molecular mechanisms underlying DNA-binding and transactivation that are required for this parathyroid-specific transcription factor.
|
20190276 |
2010 |
Hypoparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members.
|
19940031 |
2010 |
Hypoparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We describe the GCM2 mutations in two families with hypoparathyroidism, one inherited in an autosomal recessive fashion and the other in an autosomal dominant manner.
|
18712808 |
2009 |
Hypoparathyroidism
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.
|
18583467 |
2008 |
Hypoparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study.
|
18182452 |
2008 |
Hypoparathyroidism
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study.
|
18182452 |
2008 |
Hypoparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Two mutations (R47L, G63S) in the DNA binding domain of the parathyroid-specific transcription factor GCMB have been reported to be linked to hypoparathyroidism.
|
16697534 |
2006 |
Hypoparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report a second family with isolated hypoparathyroidism and a GCMB mutation.
|
15728199 |
2005 |
Hypoparathyroidism
|
0.400 |
Biomarker
|
disease |
MGD |
1,25-Dihydroxyvitamin D(3) is a negative endocrine regulator of the renin-angiotensin system.
|
12122115 |
2002 |
Hypoparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that homozygous loss of function of the GCMB gene impairs normal parathyroid gland embryology and is responsible for isolated hypoparathyroidism in a subset of patients with this disease.
|
11602629 |
2001 |
Hypoparathyroidism
|
0.400 |
Biomarker
|
disease |
MGD |
Genetic ablation of parathyroid glands reveals another source of parathyroid hormone.
|
10910362 |
2000 |
Hypoparathyroidism
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Hypoparathyroidism
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|