SERPINA6
|
0.950 |
AlteredExpression
|
disease |
BEFREE |
Our aim was to ascertain whether CBG deficiency could affect the endocrine synthetic activity of adrenal gland and if the adrenal gland produces CBG.
|
31570737 |
2019 |
SERPINA6
|
0.950 |
Biomarker
|
disease |
BEFREE |
Then the dissection of some CBG physiological roles in an animal model of genetic CBG deficiency is reported.
|
19643164 |
2010 |
SERPINA6
|
0.950 |
Biomarker
|
disease |
MGD |
We have investigated the effect of partial or total transcortin deficiency using transcortin knockout mice on hypothalamus-pituitary-adrenal axis functioning and regulation as well as on behaviors linked to anxiety and depression traits in animals.
|
20022933 |
2010 |
SERPINA6
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
To the best of our knowledge, this case represents the first de novo mutation reported for corticosteroid-binding globulin deficiency, implicating a pathogenic role of variants of SERPINA6 in some cases of muscle fatigue.
|
17245537 |
2007 |
SERPINA6
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
To the best of our knowledge, this case represents the first de novo mutation reported for corticosteroid-binding globulin deficiency, implicating a pathogenic role of variants of SERPINA6 in some cases of muscle fatigue.
|
17245537 |
2007 |
SERPINA6
|
0.950 |
Biomarker
|
disease |
MGD |
Hyporesponsiveness to glucocorticoids in mice genetically deficient for the corticosteroid binding globulin.
|
16980625 |
2006 |
SERPINA6
|
0.950 |
GermlineCausalMutation
|
disease |
ORPHANET |
Although relative hypotension and fatigue have recently been associated with CBG deficiency in a family with two CBG mutations (null and Lyon), the two homozygous subjects in this kindred were both normotensive and only the proband presented with fatigue.
|
12780753 |
2003 |
SERPINA6
|
0.950 |
Biomarker
|
disease |
BEFREE |
We propose that the increased proliferation and enhanced differentiation of CBG-negative preadipocytes may promote adipose tissue deposition and explain the obesity seen in individuals with genetic CBG deficiency.
|
12554596 |
2003 |
SERPINA6
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Although relative hypotension and fatigue have recently been associated with CBG deficiency in a family with two CBG mutations (null and Lyon), the two homozygous subjects in this kindred were both normotensive and only the proband presented with fatigue.
|
12780753 |
2003 |
SERPINA6
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity.
|
10634411 |
2000 |
SERPINA6
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93.
|
8212073 |
1993 |
SERPINA6
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A Leu----His substitution at residue 93 in human corticosteroid binding globulin results in reduced affinity for cortisol.
|
1504007 |
1992 |
SERPINA6
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|
SERPINA6
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
SERPINA6
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
|
|
|