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Disease on EC 1.3.1.22 - 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+)

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
3-oxo-5alpha-steroid 4-dehydrogenase (acceptor) deficiency
5alpha-reductase activity in the prostate.
3-oxo-5alpha-steroid 4-dehydrogenase (nadp+) deficiency
5-Alpha-reductase type 2 deficiency. A new case in the Spanish population.
A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency.
A novel mutation of the 5alpha-reductase type 2 gene in two unrelated Egyptian children with ambiguous genitalia.
Accuracy of Urinary Etiocholanolone/Androsterone Ratio as Alternative to Serum Testosterone/Dihydrotestosterone Ratio for Diagnosis of 5 Alpha-reductase Type 2 Deficiency Patients and Carriers in Indonesia.
Androgens, androgen receptors, and male gender role behavior.
Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency.
Detection of the G34R mutation in the 5 alpha reductase 2 gene by allele specific PCR and its linkage to the 89L allele among Egyptian cases.
Disorders of androgen action.
Fetal Genotype-Phenotype Sex Discordance: A Case of 5-Alpha-Reductase Deficiency.
Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency.
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.
Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency.
Molecular basis of androgen insensitivity.
Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.
Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency.
New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.
Testicular histological and immunohistochemical aspects in a post-pubertal patient with 5 alpha-reductase type 2 deficiency: case report and review of the literature in a perspective of evaluation of potential fertility of these patients.
The 5 alpha-reductase isozyme family: a review of basic biology and their role in human diseases.
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
[The importance of DNA analysis in the diagnosis of steroid 5-alpha-reductase deficiency]
Acne Vulgaris
Clinical application of 5alpha-reductase inhibitors.
Epristeride (SmithKline Beecham).
Adenocarcinoma
5alpha-reductase and 17beta-hydroxysteroid dehydrogenase expression in epithelial cells from hyperplastic and malignant human prostate.
Expression of aromatase and 5-alpha-reductase genes in endometrial adenocarcinoma.
Immunochemical detection of 5 alpha-reductase in human serum.
Alopecia
5 alpha-reductase type 2 is constitutively expressed in the dermal papilla and connective tissue sheath of the hair follicle in vivo but not during culture in vitro.
A pharmacogenetic survey of androgen receptor (CAG)n and (GGN)n polymorphisms in patients experiencing long term side effects after finasteride discontinuation.
Androgens and alopecia.
Management of male pattern hair loss.
Androgen-Insensitivity Syndrome
Molecular basis of androgen insensitivity.
Azoospermia
Steroid 5alpha-reductase 2 gene melting polymorphisms in male subjects with azoospermia or oligospermia.
Breast Neoplasms
A49T, V89L and TA repeat polymorphisms of steroid 5alpha-reductase type II and breast cancer risk in Japanese women.
Dutasteride affects progesterone metabolizing enzyme activity/expression in human breast cell lines resulting in suppression of cell proliferation and detachment.
The dialectic role of progesterone.
The V89L polymorphism in the 5-alpha-reductase type 2 gene and risk of breast cancer.
Carcinoma
Five-alpha-reductase expression in benign and malignant urothelium: correlation with disease characteristics and outcome.
Carcinoma, Transitional Cell
Five-alpha-reductase expression in benign and malignant urothelium: correlation with disease characteristics and outcome.
Coloboma
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).
Dermatitis
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).
Dermatitis, Atopic
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).
Disorder of Sex Development, 46,XY
5 alpha-reduced androgens play a key role in murine parturition.
5-alpha-reductase 2 deficiency in a woman with primary amenorrhea.
Disorders of androgen action.
Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency.
Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).
Molecular basis of androgen insensitivity.
Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.
Dwarfism
5alpha-Reductase activity in Lycopersicon esculentum: cloning and functional characterization of LeDET2 and evidence of the presence of two isoenzymes.
Endometriosis
Androgen receptor and 5alpha-reductase are expressed in pelvic endometriosis.
Hirsutism
Clinical application of 5alpha-reductase inhibitors.
Management of hirsutism.
Hyperprolactinemia
Effects of sulpiride on mRNA levels of steroid 5alpha-reductase isozymes in prostate of adult rats.
Hypospadias
5alpha-reductase type 2 mutations are present in some boys with isolated hypospadias.
Disorders of androgen action.
Expression of the androgen receptor and 5 alpha-reductase type 2 in the developing human fetal penis and urethra.
Steroid 5alpha-reductase 1 polymorphisms and testosterone/dihydrotestosterone ratio in male patients with hypospadias.
Two novel mutations of SRD5A2 gene in Indonesian siblings with clinical 5-alpha-reductase deficiency.
Insulin Resistance
Impaired glucose tolerance and insulin resistance are associated with increased adipose 11beta-hydroxysteroid dehydrogenase type 1 expression and elevated hepatic 5alpha-reductase activity.
Neoplasms
5alpha-reductase type 1 immunostaining is enhanced in some prostate cancers compared with benign prostatic hyperplasia epithelium.
Activity and expression of progesterone metabolizing 5alpha-reductase, 20alpha-hydroxysteroid oxidoreductase and 3alpha(beta)-hydroxysteroid oxidoreductases in tumorigenic (MCF-7, MDA-MB-231, T-47D) and nontumorigenic (MCF-10A) human breast cancer cells.
Association among polymorphisms in the steroid 5alpha-reductase type II (SRD5A2) gene, prostate cancer risk, and pathologic characteristics of prostate tumors in an Ecuadorian population.
Codon 89 polymorphism in the human 5 alpha-reductase gene in primary breast cancer.
Differences in steroid 5alpha-reductase iso-enzymes expression between normal and pathological human prostate tissue.
Differential alterations in 5alpha-reductase type 1 and type 2 levels during development and progression of prostate cancer.
Effect of the dual 5alpha-reductase inhibitor dutasteride on markers of tumor regression in prostate cancer.
Expression of progesterone metabolizing enzyme genes (AKR1C1, AKR1C2, AKR1C3, SRD5A1, SRD5A2) is altered in human breast carcinoma.
Five-alpha-reductase expression in benign and malignant urothelium: correlation with disease characteristics and outcome.
Involvement of Egr-1 in HGF-induced elevation of the human 5alpha-R1 gene in human hepatocellular carcinoma cells.
SULT2B1b sulfotransferase: induction by vitamin D receptor and reduced expression in prostate cancer.
The dialectic role of progesterone.
Neoplastic Processes
Steroid 5-alpha reductase type 2 activity in biopsies from malignant and normal prostatic tissues.
Oligospermia
Steroid 5alpha-reductase 2 gene melting polymorphisms in male subjects with azoospermia or oligospermia.
Optic Atrophy
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).
Ovarian Neoplasms
The steroid 5alpha-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women.
Peripheral Arterial Disease
Polymorphisms of steroid 5-alpha-reductase type I (SRD5A1) gene are associated to peripheral arterial disease.
Prostatic Hyperplasia
Associations between polymorphisms in the steroid 5-alpha reductase type II (SRD5A2) gene and benign prostatic hyperplasia and prostate cancer.
Epristeride (SmithKline Beecham).
Establishment of a novel model for studying the effects of extracts of Chinese herb medicine on human type II 5alpha-reductase in vitro.
Prostatic Neoplasms
5alpha-reductase type 1 immunostaining is enhanced in some prostate cancers compared with benign prostatic hyperplasia epithelium.
A missense substitution A49T in the steroid 5-alpha-reductase gene (SRD5A2) is not associated with prostate cancer in Finland.
A prevalent missense substitution that modulates activity of prostatic steroid 5alpha-reductase.
Association among polymorphisms in the steroid 5alpha-reductase type II (SRD5A2) gene, prostate cancer risk, and pathologic characteristics of prostate tumors in an Ecuadorian population.
Associations between polymorphisms in the steroid 5-alpha reductase type II (SRD5A2) gene and benign prostatic hyperplasia and prostate cancer.
Dutasteride, the dual 5alpha-reductase inhibitor, inhibits androgen action and promotes cell death in the LNCaP prostate cancer cell line.
Effect of the dual 5alpha-reductase inhibitor dutasteride on markers of tumor regression in prostate cancer.
Hormonal carcinogenesis.
Molecular epidemiologic studies within the Selenium and Vitamin E Cancer Prevention Trial (SELECT).
Polymorphic markers in the SRD5A2 gene and prostate cancer risk: a population-based case-control study.
SRD5A2 V89L polymorphism and prostate cancer risk: A meta-analysis.
Steroid 5 alpha-reductase 2 enzyme variants, biomass exposure and tobacco use in Mexican patients with prostate cancer.
Steroid 5-alpha reductase type II V89L substitution is not associated with risk of prostate cancer in a multiethnic population study.
SULT2B1b sulfotransferase: induction by vitamin D receptor and reduced expression in prostate cancer.
The role of molecular genetics in chemoprevention studies of prostate cancer.
Retinal Dystrophies
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).
Seminoma
Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency.