|
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 |
|
Xeroderma Pigmentosum
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This mutation converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation of the 940 amino acid xeroderma pigmentosum C protein.
|
11511294 |
2001 |
|
Von Hippel-Lindau Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
CGA has several functions, some of which may be involved in the distinct phenotypic differences of phaeochromocytomas in patients with von Hippel-Lindau (VHL) syndrome compared to multiple endocrine neoplasia type 2 (MEN 2).
|
18046660 |
2007 |
|
Uterine 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 |
|
Tumors of Adrenal Cortex
|
0.010 |
Biomarker
|
group |
BEFREE |
These results demonstrate that a single genetic event such as the inappropriate expression of the nonmutated LH/hCG receptor gene is sufficient to initiate the phenotypic changes that cause the development of a benign adrenocortical tumor.
|
16249277 |
2006 |
|
Tumor Cell Invasion
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
BPDE decreased cell ability, attenuated cell invasion and HCG secretion, induced cell apoptosis, decreased mitochondrial membrane potential, increased reactive oxygen species (ROS) and MDA, and decreased SOD activity in a dose-dependent manner.
|
29144987 |
2018 |
|
Trophoblastic Tumor, Placental Site
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Since predicting the biologic behavior of placental site trophoblastic tumor is very difficult, making a correct diagnosis on endometrial curettings, hysterectomy, and monitoring serum HCG level is essential in patients with this tumor.
|
8396853 |
1993 |
|
Trisomy 18 Syndrome
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We concluded that in trisomy 21 the high tissue HCG concentration and expression of LH/HCG receptor in the trophoblast may reflect the relative immaturity of the trophoblastic tissue whereas in trisomy 18, the very low concentration of endogenous HCG, associated with an over-expression of LH/HCG receptor in the trophoblast, is probably secondary to the poor differentiation of the cytotrophoblast.
|
10611254 |
2000 |
|
Transposition of Great Vessels
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Among the 12 patients with parathyroid cancer, 1 had a germ-line mutation of the HRPT2 at exon 7, codon 234, CGA (Arg) to TGA (Stop), and 1 patient had a tumor-specific mutation at exon 1, nucleotide 34-37 delAACA.
|
20480190 |
2010 |
|
Transposition of Great Vessels
|
0.050 |
Biomarker
|
disease |
BEFREE |
One subject had a C to T base substitution at nucleotide 682 that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 228.
|
9153281 |
1997 |
|
Transposition of Great Vessels
|
0.050 |
Biomarker
|
disease |
BEFREE |
The remaining three detected lesions, CGA (Arg)----TGA (Term) transitions at codons 2116, 2147 and 2307, respectively, have been reported before and are consistent with recurrent mutation at these hypermutable sites.
|
1840568 |
1991 |
|
Transposition of Great Vessels
|
0.050 |
Biomarker
|
disease |
BEFREE |
CGA----TGA (Arg----Term) transitions in the factor VIII gene causing severe haemophilia A were detected in two patients at codons 336 and 427 using a combination of oligonucleotide discrimination hybridization and DNA sequencing.
|
1903760 |
1991 |
|
Transposition of Great Vessels
|
0.050 |
Biomarker
|
disease |
BEFREE |
In two independent patients with classical xanthinuria type II, we identified a C to T base substitution at nucleotide 1255 in the HMCS gene that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 419.
|
11302742 |
2001 |
|
TNF receptor-associated periodic fever syndrome (TRAPS)
|
0.010 |
Biomarker
|
disease |
BEFREE |
Levels of estrogen, progesterone and beta-HCG were also found to be higher (P < 0.001) in HEV positive pregnant FHF patients when compared to HEV negative patients or controls.
|
17444855 |
2007 |
|
Thyrotoxicosis in pregnancy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Gestational thyrotoxicosis is due to homology of the structure of TSH and HCG, which weakly stimulates the TSH receptor.
|
31345521 |
2019 |
|
Thyroid cancer, follicular
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hemiplegia after thyrotropin alfa in a hypothyroid patient with thyroid carcinoma metastatic to the brain.
|
10566621 |
1999 |
|
Thrombasthenia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The genetic basis for Glanzmann's thrombasthenia (GT) was elucidated on a compound heterozygote with glycoprotein (GP)IIb gene: an opal mutation at the end of exon 17 (CGA----TGA) results in only a trace amount of GPIIb mRNA, and a splicing mutation at the acceptor site of exon 26 (CAG----GAG) causes an in-frame, exon skipping process from exon 25 to 27.
|
1317725 |
1992 |
|
Testicular Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
His testicular tumor markers (beta-HCG, AFP) were normal.
|
29394168 |
2018 |
|
Testicular Germ Cell Tumor
|
0.010 |
Biomarker
|
disease |
BEFREE |
Circulating tumor markers (β-subunit of human chorionic gonadotropin (β-HCG), alpha-Fetoprotein (AFP), and Lactate Dehydrogenase (LDH)) are frequently used for monitoring disease recurrence in TGCT patients, though they lack diagnostic sensitivity and specificity.
|
30321995 |
2018 |
|
Tendinopathy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The KDR (-604C>T, 1192G>A and 1719T>A) haplotypes CGA and CAT were associated with decreased tendinopathy risk (OR: 0.46, 95% CI: 0.21-0.99 and OR: 0.23, 95% CI: 0.07-0.76, respectively).
|
27930691 |
2016 |
|
Synovial Cyst
|
0.010 |
Biomarker
|
disease |
BEFREE |
Therefore our findings suggest that a complex neuroendocrine circuit exists in the retina, involving hCG secreting cells (glial and RPE), hCG targets (photoreceptors) and hCG-release controlling cells (amacrine and RGC).
|
23285091 |
2012 |
|
Stromal Neoplasm
|
0.010 |
Biomarker
|
disease |
BEFREE |
The mRNA expression of luteinizing hormone (LH)/human chorionic gonadotropin (hCG) receptors was analysed by the RT-nested PCR method in five normal ovarian tissues, 62 ovarian tumours (5 benign, 7 borderline and 43 malignant epithelial tumours, 3 sex cord-stromal tumours and 4 germ cell tumours) and in 2 ovarian cancer cell lines.
|
9337696 |
1997 |
|
Stomach Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In contrast, haplotypes CGA and AGA were showed a decline in gastric cancer susceptibility (OR = 0.67, 95% CI 0.46-0.97; OR = 0.58, 95% CI 0.41-0.83, respectively).
|
20842450 |
2011 |
|
Stickler syndrome (disorder)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the eight exons in 10 unrelated probands with AO revealed that one had a single-base mutation in one allele that changed the codon of -CGA- for arginine at amino acid position alpha 1-9 in exon 7 to a premature termination signal for translation.
|
8434604 |
1993 |
|
Somatotropin deficiency
|
0.010 |
Biomarker
|
disease |
BEFREE |
Abbreviations: GH: growth hormone; GHD: growth hormone deficiency; HCG: human chorionic gonadotropin; IVF: in vitro fertilization; IGF: insulin like growth factor.
|
29975109 |
2019 |