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Disease on EC 5.3.3.1 - steroid DELTA-isomerase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
3beta-hydroxy-delta5-steroid dehydrogenase deficiency
Carboxyl-Terminal Mutations in 3{beta}-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia.
Addison Disease
Steroid-cell autoantibodies are preferentially expressed in women with premature ovarian failure who have adrenal autoimmunity.
Adenoma
Immunohistochemical study of cytochrome b5 in human adrenal gland and in adrenocortical adenomas from patients with Cushing's syndrome.
Adrenal Hyperplasia, Congenital
A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency.
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.
Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency.
Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency.
Adrenocortical Hyperfunction
Trilostane treatment in dogs with pituitary-dependent hyperadrenocorticism.
Anovulation
Prepubertal administration of estradiol valerate disrupts cyclicity and leads to cystic ovarian morphology during adult life in the rat: role of sympathetic innervation.
Atherosclerosis
3beta-Hydroxysteroid dehydrogenase in human aorta.
Autoimmune Diseases
Steroid-cell autoantibodies are preferentially expressed in women with premature ovarian failure who have adrenal autoimmunity.
Brain Injuries, Traumatic
3beta-Hydroxysteroid dehydrogenase/5-ene-4-ene isomerase mRNA expression in rat brain: effect of pseudopregnancy and traumatic brain injury.
Breast Neoplasms
Crucial role of cytokines in sex steroid formation in normal and tumoral tissues.
Identification of key amino acids responsible for the substantially higher affinities of human type 1 3beta-hydroxysteroid dehydrogenase/isomerase (3beta-HSD1) for substrates, coenzymes, and inhibitors relative to human 3beta-HSD2.
Induction of 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase type 1 gene transcription in human breast cancer cell lines and in normal mammary epithelial cells by interleukin-4 and interleukin-13.
Induction of 3beta-hydroxysteroid dehydrogenase/isomerase type 1 expression by interleukin-4 in human normal prostate epithelial cells, immortalized keratinocytes, colon, and cervix cancer cell lines.
Multiple signal transduction pathways mediate interleukin-4-induced 3beta-hydroxysteroid dehydrogenase/Delta5-Delta4 isomerase in normal and tumoral target tissues.
Multiple signaling pathways mediate interleukin-4-induced 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase type 1 gene expression in human breast cancer cells.
Regulation of sex steroid formation by interleukin-4 and interleukin-6 in breast cancer cells.
Serine 124 completes the Tyr, Lys and Ser triad responsible for the catalysis of human type 1 3beta-hydroxysteroid dehydrogenase.
Structural basis for the selective inhibition of human 3beta-hydroxysteroid dehydrogenase 1 in human breast tumor MCF-7 cells.
Carcinoma
Ontogeny and subcellular localization of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) in the human and rat adrenal, ovary and testis.
StAR and progesterone producing enzymes (3beta-hydroxysteroid dehydrogenase and cholesterol side-chain cleavage cytochromes P450) in human epithelial ovarian carcinoma: immunohistochemical and real-time PCR studies.
Structure and tissue-specific expression of 3 beta-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase genes in human and rat classical and peripheral steroidogenic tissues.
Structure, function and tissue-specific gene expression of 3?-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase enzymes in classical and peripheral intracrine steroidogenic tissues.
Synergistic activation of the human type II 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase promoter by the transcription factor steroidogenic factor-1/adrenal 4-binding protein and phorbol ester.
Carcinoma, Hepatocellular
Hepatocellular ligandin during N-2-fluorenylacetamide carcinogenesis.
Human cytosolic 3alpha-hydroxysteroid dehydrogenases of the aldo-keto reductase superfamily display significant 3beta-hydroxysteroid dehydrogenase activity: implications for steroid hormone metabolism and action.
Cholera
Regulation of steroidogenesis in jc-410, a stable cell line of porcine granulosa origin.
Steroid regulation of progesterone synthesis in a stable porcine granulosa cell line: a role for progestins.
Time-course effects of human recombinant luteinizing hormone on porcine Leydig cell specific differentiated functions.
Cholestasis
3beta-hydroxy-delta5 -C27-steroid dehydrogenase deficiency: diagnosis and treatment.
Cholestasis, Intrahepatic
The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis.
Choriocarcinoma
Induction of 3beta-hydroxysteroid dehydrogenase/isomerase type 1 expression by interleukin-4 in human normal prostate epithelial cells, immortalized keratinocytes, colon, and cervix cancer cell lines.
Structure/function relationships responsible for the kinetic differences between human type 1 and type 2 3beta-hydroxysteroid dehydrogenase and for the catalysis of the type 1 activity.
Colonic Neoplasms
Induction of 3beta-hydroxysteroid dehydrogenase/isomerase type 1 expression by interleukin-4 in human normal prostate epithelial cells, immortalized keratinocytes, colon, and cervix cancer cell lines.
Cysts
Dexamethasone-induced changes in sympathetic innervation of porcine ovaries and in their steroidogenic activity.
Expression of steroidogenic enzymes in porcine polycystic ovaries.
Immunolocalization of 3beta-HSD and 17beta-HSD in the testis of the spotted ray Torpedo marmorata.
Demyelinating Diseases
Distribution of 3beta-hydroxysteroid dehydrogenase in the cerebellum in canine distemper virus infection.
Diabetes Mellitus
Steroid-cell autoantibodies are preferentially expressed in women with premature ovarian failure who have adrenal autoimmunity.
Diabetes Mellitus, Type 1
Steroid-cell autoantibodies are preferentially expressed in women with premature ovarian failure who have adrenal autoimmunity.
Disorders of Sex Development
Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency.
Fetal Resorption
Effect of abdominal vagotomy of the pregnant rat on LH and progesterone concentrations and fetal resorption.
Genetic Diseases, Inborn
[Case report: congenital adrenal hyperplasia and ambiguous genitalia due to 3 beta-hydroxysteroid dehydrogenase deficiency]
Herpes Zoster
Ontogeny of 3beta-hydroxysteroid dehydrogenase expression in the rat adrenal gland as studied by immunohistochemistry.
The molecular basis of premature adrenarche: an hypothesis.
The primate adrenal zona reticularis is defined by expression of cytochrome b5, 17alpha-hydroxylase/17,20-lyase cytochrome P450 (P450c17) and NADPH-cytochrome P450 reductase (reductase) but not 3beta-hydroxysteroid dehydrogenase/delta5-4 isomerase (3beta-HSD).
Hirsutism
The Molecular and Clinical Spectrum of 3beta-hydroxysteroid Dehydrogenase Deficiency Disorder.
Infections
Characterization of the Rana grylio virus 3beta-hydroxysteroid dehydrogenase and its novel role in suppressing virus-induced cytopathic effect.
Distribution of 3beta-hydroxysteroid dehydrogenase in the cerebellum in canine distemper virus infection.
HIV-1 clade C infection and progressive disruption in the relationship between cortisol, DHEAS and CD4 cell numbers: a two-year follow-up study.
Neoplasms
Cushing's syndrome due to bilateral adrenocortical adenomas with different pathological features.
Estrogen producing activity in epithelial ovarian tumors and dermoid cysts.
Immunohistochemical detection of inhibin-alpha, -betaB, and -betaA chains and 3beta-hydroxysteroid dehydrogenase in canine testicular tumors and normal testes.
Multiple signal transduction pathways mediate interleukin-4-induced 3beta-hydroxysteroid dehydrogenase/Delta5-Delta4 isomerase in normal and tumoral target tissues.
Multiple signaling pathways mediate interleukin-4-induced 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase type 1 gene expression in human breast cancer cells.
Origin and evolution of somatic cell testicular tumours in transgenic mice.
StAR and progesterone producing enzymes (3beta-hydroxysteroid dehydrogenase and cholesterol side-chain cleavage cytochromes P450) in human epithelial ovarian carcinoma: immunohistochemical and real-time PCR studies.
Structure/function relationships responsible for the kinetic differences between human type 1 and type 2 3beta-hydroxysteroid dehydrogenase and for the catalysis of the type 1 activity.
Use of antibodies against LH receptor, 3beta-hydroxysteroid dehydrogenase and vimentin to characterize different types of testicular tumour in dogs.
Optic Atrophy, Autosomal Dominant
Protease Inhibitor Anti-HIV, Lopinavir, Impairs Placental Endocrine Function.
Ovarian Cysts
Prepubertal administration of estradiol valerate disrupts cyclicity and leads to cystic ovarian morphology during adult life in the rat: role of sympathetic innervation.
Peripheral Nerve Injuries
Differential regulation of 3-beta-hydroxysteroid dehydrogenase and vanilloid receptor TRPV1 mRNA in sensory neurons by capsaicin and NGF.
Increased expression of 3 beta-hydroxysteroid dehydrogenase mRNA in dorsal root ganglion neurons of adult rats following peripheral nerve injury.
Pregnancy, Ectopic
Expression of 3beta-hydroxysteroid dehydrogenase and P450 side chain cleavage enzyme in the human uterine endometrium.
Primary Ovarian Insufficiency
Steroid-cell autoantibodies are preferentially expressed in women with premature ovarian failure who have adrenal autoimmunity.
Prostatic Neoplasms
Induction of 3beta-hydroxysteroid dehydrogenase/isomerase type 1 expression by interleukin-4 in human normal prostate epithelial cells, immortalized keratinocytes, colon, and cervix cancer cell lines.
Seminoma
Immunohistochemical detection of inhibin-alpha, -betaB, and -betaA chains and 3beta-hydroxysteroid dehydrogenase in canine testicular tumors and normal testes.
Use of antibodies against LH receptor, 3beta-hydroxysteroid dehydrogenase and vimentin to characterize different types of testicular tumour in dogs.
steroid delta-isomerase deficiency
3beta-hydroxy-delta5 -C27-steroid dehydrogenase deficiency: diagnosis and treatment.
A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency.
A novel homozygous nonsense mutations E135* in the type II 3beta-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia. Mutations in brief no. 168. Online.
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.
An adrenal rest tumour in the perirenal region in a patient with congenital adrenal hyperplasia due to congenital 3beta-hydroxysteroid dehydrogenase deficiency.
Carboxyl-Terminal Mutations in 3{beta}-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia.
Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency.
Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency.
Endocrinological and genetic studies in patients with Polycystic Ovary Syndrome (PCOS).
Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.
Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.
Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency.
Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy.
The Molecular and Clinical Spectrum of 3beta-hydroxysteroid Dehydrogenase Deficiency Disorder.
[Case report: congenital adrenal hyperplasia and ambiguous genitalia due to 3 beta-hydroxysteroid dehydrogenase deficiency]
Testicular Neoplasms
Immunohistochemical detection of inhibin-alpha, -betaB, and -betaA chains and 3beta-hydroxysteroid dehydrogenase in canine testicular tumors and normal testes.
Thiamine Deficiency
Effects of thiamine deficiency on hepatic cytochromes P450 and drug-metabolizing enzyme activities.
Uterine Cervical Neoplasms
Induction of 3beta-hydroxysteroid dehydrogenase/isomerase type 1 expression by interleukin-4 in human normal prostate epithelial cells, immortalized keratinocytes, colon, and cervix cancer cell lines.
Vaccinia
Steroid hormone synthesis by vaccinia virus suppresses the inflammatory response to infection.
Varicose Veins
Elevated sex steroid hormones in great saphenous veins in men.