|
Chiari-Frommel Syndrome
|
0.200 |
Biomarker
|
disease |
RGD |
Effects of human chorionic gonadotropin (hCG) and prolactin (PRL) on 3 beta-hydroxy-5-ene-steroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) expression and activity in the rat ovary.
|
2149342 |
1990 |
|
Hyperprolactinemia
|
0.200 |
Biomarker
|
disease |
RGD |
Effects of human chorionic gonadotropin (hCG) and prolactin (PRL) on 3 beta-hydroxy-5-ene-steroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) expression and activity in the rat ovary.
|
2149342 |
1990 |
|
Congenital adrenal hyperplasia
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Severe 3beta-hydroxysteroid dehydrogenase (3betaHSD) deficiency is a rare form of congenital adrenal hyperplasia resulting from mutations in the HSD3B2 gene that impair steroidogenesis in both the adrenals and gonads and cause salt-wasting in both sexes and incomplete masculinization of the external genitalia in genetic males.
|
10843183 |
2000 |
|
Malnutrition
|
0.010 |
Biomarker
|
disease |
BEFREE |
Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder.
|
10770215 |
2000 |
|
Ambiguous Genitalia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the findings of the in vitro study of mutant type II 3betaHSD enzyme activities correlated with a less severe clinical phenotype of nonsalt-wasting and a lesser degree of genital ambiguity in the patient with homozygous L6F mutation compared to a more severe clinical phenotype of salt-wasting and severe degree of genital ambiguity in the patient with homozygous T259M mutation in the gene.
|
10770215 |
2000 |
|
Malignant neoplasm of prostate
|
0.400 |
Biomarker
|
disease |
BEFREE |
To evaluate the possible role of HSD3B genes in prostate cancer, we screened a panel of DNA samples collected from 96 men with or without prostate cancer for sequence variants in the putative promoter region, exons, exon-intron junctions, and 3'-untranslated region of HSD3B1 and HSD3B2 genes by direct sequencing.
|
11912155 |
2002 |
|
Prostate carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
To evaluate the possible role of HSD3B genes in prostate cancer, we screened a panel of DNA samples collected from 96 men with or without prostate cancer for sequence variants in the putative promoter region, exons, exon-intron junctions, and 3'-untranslated region of HSD3B1 and HSD3B2 genes by direct sequencing.
|
11912155 |
2002 |
|
Congenital adrenal hyperplasia
|
0.040 |
Biomarker
|
disease |
BEFREE |
HSD3B1 gene encodes the almost exclusive 3beta-HSD isoenzyme expressed in the placenta and peripheral tissues, whereas HSD3B2 gene encodes the predominant 3beta-HSD isoenzyme expressed in the adrenal gland, ovary, and testis and its deficiency is responsible for a rare form of congenital adrenal hyperplasia causing various degrees of salt-wasting in both sexes and incomplete masculinization of the external genitalia in genetic males.
|
12428206 |
2002 |
|
Congenital adrenal hyperplasia
|
0.040 |
GeneticVariation
|
disease |
LHGDN |
A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.
|
12050213 |
2002 |
|
Sciatic Neuropathy
|
0.200 |
Biomarker
|
disease |
RGD |
Increased expression of 3 beta-hydroxysteroid dehydrogenase mRNA in dorsal root ganglion neurons of adult rats following peripheral nerve injury.
|
12648755 |
2003 |
|
Polycystic Ovary Syndrome
|
0.520 |
GeneticVariation
|
disease |
LHGDN |
The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency.
|
14764797 |
2004 |
|
Mammary Neoplasms
|
0.020 |
AlteredExpression
|
group |
LHGDN |
Serine 124 completes the Tyr, Lys and Ser triad responsible for the catalysis of human type 1 3beta-hydroxysteroid dehydrogenase.
|
15291757 |
2004 |
|
Congenital adrenal hyperplasia
|
0.040 |
Biomarker
|
disease |
BEFREE |
Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4)-isomerase (3betaHSD), a rare autosomal recessive disorder that affects both sexes, has a heterogeneous clinical presentation ranging from the severe salt-wasting to the non-salt-wasting forms and results from mutations in the HSD3B2 gene.
|
15585552 |
2005 |
|
Malignant neoplasm of prostate
|
0.400 |
Biomarker
|
disease |
CTD_human |
These results suggest that the HSD3B1 N367T and UGT2B17 null polymorphisms may modify the risk of prostate cancer, particularly among men with a family history of the disease.
|
17826523 |
2007 |
|
Malignant neoplasm of prostate
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the HSD3B1 N367T and UGT2B17 null polymorphisms may modify the risk of prostate cancer, particularly among men with a family history of the disease.
|
17826523 |
2007 |
|
Prostatic Neoplasms
|
0.310 |
Biomarker
|
group |
CTD_human |
Association between polymorphisms in HSD3B1 and UGT2B17 and prostate cancer risk.
|
17826523 |
2007 |
|
Prostatic Neoplasms
|
0.310 |
GeneticVariation
|
group |
LHGDN |
Association between polymorphisms in HSD3B1 and UGT2B17 and prostate cancer risk.
|
17826523 |
2007 |
|
Hypogonadism
|
0.200 |
Biomarker
|
disease |
RGD |
Strontium fructose 1,6-diphosphate rescues adenine-induced male hypogonadism and upregulates the testicular endothelin-1 system.
|
17880366 |
2007 |
|
Hypothyroidism
|
0.200 |
Biomarker
|
disease |
RGD |
Hypothyroidism prolongs corpus luteum function in the pregnant rat.
|
17244746 |
2007 |
|
Prostate carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the HSD3B1 N367T and UGT2B17 null polymorphisms may modify the risk of prostate cancer, particularly among men with a family history of the disease.
|
17826523 |
2007 |
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In addition, elevated 17alpha-hydroxyprogesterone and androstenedione levels due to peripheral HSD3B1 activity may lead to a delay of the correct diagnosis and even to misdiagnosis as CYP21 deficiency.
|
17496421 |
2007 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.200 |
Biomarker
|
disease |
RGD |
[Ginkgo biloba extract enhances testosterone synthesis of Leydig cells in type 2 diabetic rats].
|
18481435 |
2008 |
|
Neoplasms
|
0.040 |
AlteredExpression
|
group |
BEFREE |
In conclusion, as compared with other trophoblastic markers, HSD3B1 is highly specific and sensitive, being expressed in all types of trophoblastic lesions but not in a variety of nontrophoblastic tumors of the uterus, lung, and breast.
|
18223326 |
2008 |
|
Carcinoma
|
0.010 |
GeneticVariation
|
group |
BEFREE |
In contrast, only 3 (<1%) of 319 nontrophoblastic carcinomas from the uterus, lung, and breast reacted with the HSD3B1 antibody.
|
18223326 |
2008 |
|
Choriocarcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
HSD3B1 immunoreactivity was diffuse and intense in the majority of trophoblastic lesions with the exception of a few choriocarcinomas.
|
18223326 |
2008 |