|
3 beta-Hydroxysteroid dehydrogenase deficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Cloning and sequencing of exons I-II, III, and IV and portions of the adjacent introns, amplified by polymerase chain reaction using primers specific for the type II gene, in one male pseudohermaphrodite with salt-wasting classic 3 beta-HSD deficiency congenital adrenal hyperplasia revealed the same mutation in all nine clones of exon IV consisting of a missense mutation at codon 248 [GTC(Val)-->AAC(Asn)] followed by a frameshift mutation at codon 249 [CGA (Arg)-->TA], resulting in a stop codon TAG, and normal sequences of exon I-II and III and the adjacent portions of introns.
|
8284113 |
1993 |
|
Activated Protein C Resistance
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Genomic deoxyribonucleic acid was studied to delineate the CGA-->CAA substitution at position 1691 of the Factor V Leiden gene responsible for resistance to activated protein C. The activated protein C ratio was calculated by dividing clotting time obtained with activated protein C-calcium chloride by clotting time obtained with calcium chloride alone.
|
9170375 |
1997 |
|
Acute Promyelocytic Leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To determine whether PML-RAR alpha is sufficient to cause APML in an animal model, we used the promyelocyte-specific targeting sequences of the human cathepsin G (hCG) gene to direct the expression of a PML-RAR alpha cDNA to the early myeloid cells of transgenic mice.
|
9002938 |
1997 |
|
Adenoma
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Beta-HCG(LH)mRNA and the respective hormones were shown in very sparse cells of 6 adenomas, whereas only beta-HCG(LH)-mRNA was found in 8 cases.
|
1923947 |
1991 |
|
Adenoma
|
0.020 |
Biomarker
|
group |
BEFREE |
Paraffin sections of some adenomas that were negative for CgA protein had detectable CgA mRNA by in situ hybridization analysis.
|
8162254 |
1994 |
|
Adrenal Cushing's syndrome
|
0.040 |
AlteredExpression
|
disease |
BEFREE |
High physiological levels of hCG, in conjunction with aberrant adrenal LH/hCG receptor overexpression, may have contributed to the development of Cushing's syndrome in pregnancy.
|
19636197 |
2009 |
|
Adrenal Cushing's syndrome
|
0.040 |
Biomarker
|
disease |
BEFREE |
Aberrant expression of LH/human chorionic gonadotropin (hCG) receptor has been suggested in several cases of bilateral macronodular adrenal hyperplasia with Cushing's syndrome.
|
16249277 |
2006 |
|
Adrenal Cushing's syndrome
|
0.040 |
Biomarker
|
disease |
BEFREE |
Presence of a Gs alpha mutation in an adrenal tumor expressing LH/hCG receptors and clinically associated with Cushing's syndrome.
|
10813107 |
2000 |
|
Adrenal Cushing's syndrome
|
0.040 |
AlteredExpression
|
disease |
BEFREE |
Case report: Adrenal LH/hCG receptor overexpression and gene amplification causing pregnancy-induced Cushing's syndrome.
|
19705299 |
2009 |
|
Adrenal Gland Diseases
|
0.300 |
Therapeutic
|
group |
CTD_human |
The involvement of hypophyseal-gonadal and hypophyseal-adrenal axes in arsenic-mediated ovarian and uterine toxicity: modulation by hCG.
|
20146381 |
2010 |
|
Adrenal Gland Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
We describe a case with aberrant adrenal LH/hCG receptors in a large adrenal tumor as a possible explanation for cortisol hypersecretion and tumor growth in Cushing s syndrome during pregnancy.
|
19636197 |
2009 |
|
Adrenal Gland Pheochromocytoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Severe arterial hypertension and hyperandrogenism in a boy: a rare case of catecholamine- and β-HCG-secreting pheochromocytoma.
|
31490776 |
2019 |
|
Adrenal hyperplasia
|
0.010 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to explore the action of LH/hCG receptor on the development of adrenal hyperplasia.
|
16249277 |
2006 |
|
Adult Yolk Sac Tumor
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We analyzed EPCAM expression by quantitative RT-PCR in 48 fresh-frozen GCT specimens of different histology (10 mature teratoma, MT; 6 immature teratoma, IT; 7 dysgerminoma; 6 mixed malignant GCTs; 19 yolk sac tumor, YST) and in the GCT cell lines NCCIT, TE76.T, JAR and 2102Ep, and correlated its expression with AFP and hCG protein levels, histologic differentiation, and clinical follow-up data.
|
22987628 |
2013 |
|
Advanced Malignant Solid Neoplasm
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This method was successfully applied to pharmacokinetic study of CGA in Chinese subjects with advanced solid tumor after intramuscular injection administration of Chlorogenic acid for injection (CAFI).
|
31541942 |
2020 |
|
Agenesis of corpus callosum
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In addition, two single base transitions were identified by direct sequencing: [exon 6; codon 95; CGA (Arg) to TGA (stop)] and [exon 7; codon 172; ACC (Thr) to ACT (Thr)] in either transcript.
|
7479776 |
1995 |
|
Alzheimer's Disease
|
0.020 |
Biomarker
|
disease |
BEFREE |
Therefore, we investigated the effects of hCG on the phosphorylated tau protein level and its effect on hCG receptor-immunoreactive neuron density in the hippocampus of Alzheimer's disease (AD) model rats (streptozotocin [STZ] injected intracerebroventricularly).
|
30509034 |
2018 |
|
Alzheimer's Disease
|
0.020 |
Biomarker
|
disease |
BEFREE |
Administration of hCG ameliorated the lowered density of hCG receptor-ir neurons in the cerebellum and prefrontal cortex in STZ-induced AD rats.
|
30760053 |
2019 |
|
Anorexia Nervosa
|
0.010 |
Biomarker
|
disease |
BEFREE |
Patients with AN had significantly lower alpha (within-sample) diversity than did HCG at both T1 (p = .0001) and T2 (p = .016), and differences in taxa abundance were found between AN patients and HCG.
|
26428446 |
2016 |
|
Antithrombin III Deficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We have identified two novel minor deletions (case 1; -TA or -AT at nucleotide 9831-3 in exon 5 and case 2; -A at nucleotide 7640-1 in exon 4), one novel nonsense mutation (case 3; TAT to TAA at nucleotide 7491 in exon 4), and one recurrent nonsense mutation (case 4; CGA to TGA at nucleotide 5381 in exon 3A) in Japanese kindreds with congenital type I antithrombin deficiency.
|
9134630 |
1997 |
|
Anxiety
|
0.010 |
Biomarker
|
disease |
BEFREE |
CGA carriers (n = 32) exhibited attenuated PPI (p < .001) and verbal memory (p < .001) and higher anxiety (p < .004) and schizotypy (p < .008) compared with the noncarriers (n = 185).
|
19232576 |
2009 |
|
Anxiety Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
CGA carriers (n = 32) exhibited attenuated PPI (p < .001) and verbal memory (p < .001) and higher anxiety (p < .004) and schizotypy (p < .008) compared with the noncarriers (n = 185).
|
19232576 |
2009 |
|
Aortic Aneurysm
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Activating point mutations in the N-ras gene (nine CAA (Gln) to AAA (Lys) transversions and one CAA (Gln) to CGA (Arg) transition at codon 61) were detected at high frequency (56%).
|
10465111 |
1999 |
|
Aortic Aneurysm, Abdominal
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Activating point mutations in the N-ras gene (nine CAA (Gln) to AAA (Lys) transversions and one CAA (Gln) to CGA (Arg) transition at codon 61) were detected at high frequency (56%).
|
10465111 |
1999 |
|
Aphasia
|
0.010 |
Biomarker
|
disease |
BEFREE |
The MASTest was administered in 50 left hemisphere stroke patients with aphasia (LHA+ group) in the acute phase after the stroke and 126 healthy volunteers in a control group (CG), stratified by age and level of education.
|
30569561 |
2019 |