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Disease on EC 1.14.14.19 - steroid 17alpha-monooxygenase

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DISEASE
TITLE OF PUBLICATION
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17alpha-hydroxyprogesterone deacetylase deficiency
A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency.
A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20-lyase deficiency in three Chinese sisters.
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.
New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.
Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.
Addison Disease
Three new Brazilian cases of 17?-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features.
Adenoma
High expression of cytochrome b5 in adrenocortical adenomas from patients with Cushing's syndrome associated with high secretion of adrenal androgens.
In-vitro evidence for the regulation of 17,20-lyase activity by cytochrome b5 in adrenocortical adenomas from patients with Cushing's syndrome.
Mechanism of abnormal production of adrenal androgens in patients with adrenocortical adenomas and carcinomas.
Adrenal Hyperplasia, Congenital
17?-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
Male pseudohermaphroditism as a cause of secondary hypertension: a case report.
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female.
Two rare forms of congenital adrenal hyperplasia, 11? hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.
Adrenocortical Adenoma
High expression of cytochrome b5 in adrenocortical adenomas from patients with Cushing's syndrome associated with high secretion of adrenal androgens.
In-vitro evidence for the regulation of 17,20-lyase activity by cytochrome b5 in adrenocortical adenomas from patients with Cushing's syndrome.
Mechanism of abnormal production of adrenal androgens in patients with adrenocortical adenomas and carcinomas.
Adrenocortical Carcinoma
In vitro effects of brominated flame retardants and metabolites on CYP17 catalytic activity: a novel mechanism of action?
Antley-Bixler Syndrome Phenotype
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase.
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
aromatase deficiency
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Breast Neoplasms
A population pharmacokinetic analysis of the oral CYP17 lyase and androgen receptor inhibitor seviteronel in patients with advanced/metastatic castration-resistant prostate cancer or breast cancer.
CYP17 5'-UTR MspA1 polymorphism and the risk of premenopausal breast cancer in a German population-based case-control study.
CYP17 genotype modifies the association between lignan supply and premenopausal breast cancer risk in humans.
Cytochrome P450c17alpha gene (CYP17) polymorphism is associated with serum estrogen and progesterone concentrations.
Dietary isoflavone intake, polymorphisms in the CYP17, CYP19, 17beta-HSD1, and SHBG genes, and risk of breast cancer in case-control studies in Japanese, Japanese Brazilians, and non-Japanese Brazilians.
Genetic modeling of estrogen metabolism as a risk factor of hormone-dependent disorders.
Genetic modelling of the estrogen metabolism as a risk factor of hormone-dependent disorders.
Human steroid biosynthesis for the oncologist.
Metabolism of pregnenolone by human breast cancer. Evidence for 17 alpha-hydroxylase and 17,20-lyase.
The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers.
The risk of breast cancer associated with dietary lignans differs by CYP17 genotype in women.
Carcinoma
Mechanism of abnormal production of adrenal androgens in patients with adrenocortical adenomas and carcinomas.
Cholera
Loss of expression of a differentiated function gene, steroid 17 alpha-hydroxylase, as adrenocortical cells senescence in culture.
Cryptorchidism
A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.
Cushing Syndrome
High expression of cytochrome b5 in adrenocortical adenomas from patients with Cushing's syndrome associated with high secretion of adrenal androgens.
In-vitro evidence for the regulation of 17,20-lyase activity by cytochrome b5 in adrenocortical adenomas from patients with Cushing's syndrome.
Diabetes Mellitus
Decreased steroidogenic enzyme 17,20-lyase and increased 17-hydroxylase activities in type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
Decreased steroidogenic enzyme 17,20-lyase and increased 17-hydroxylase activities in type 2 diabetes mellitus.
Disorder of Sex Development, 46,XY
Production of male pseudohermaphroditism in rats by two new inhibitors of steroid 17alpha-hydroxylase and C 17-20 lyase.
Disorders of Sex Development
Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.
Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility.
Male pseudohermaphroditism as a cause of secondary hypertension: a case report.
Dyskinesias
Interactive effect of cytochrome P450 17alpha-hydroxylase and dopamine D3 receptor gene polymorphisms on abnormal involuntary movements in chronic schizophrenia.
Endometriosis
Cytochrome P450c17alpha 5'-untranslated region *T/C polymorphism in endometriosis.
Estrogen receptor alpha dinucleotide repeat and cytochrome P450c17alpha gene polymorphisms are associated with susceptibility to endometriosis.
Genetic polymorphisms of cytochrome P450cl7alpha (CYP17) and progesterone receptor genes (PROGINS) in the assessment of endometriosis risk.
Fetal Growth Retardation
A polymorphism in the CYP17 gene and intrauterine fetal growth restriction.
Gonadal Dysgenesis
Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases.
Gynecomastia
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
Hepatitis C
Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients.
Hepatitis C, Chronic
Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients.
Herpes Zoster
A homodimer model can resolve the conundrum as to how cytochrome P450 oxidoreductase and cytochrome b5 compete for the same binding site on cytochrome P450c17.
Fetal programming of adrenal androgen excess: lessons from a nonhuman primate model of polycystic ovary syndrome.
Gender and gonadal status differences in zona reticularis expression in marmoset monkey adrenals: Cytochrome b5 localization with respect to cytochrome P450 17,20-lyase activity.
Human adrenal corticocarcinoma NCI-H295R cells produce more androgens than NCI-H295A cells and differ in 3beta-hydroxysteroid dehydrogenase type 2 and 17,20 lyase activities.
Role of cytochrome b5 in the modulation of the enzymatic activities of cytochrome P450 17?-hydroxylase/17,20-lyase (P450 17A1).
Studies of adrenal steroidogenic enzymes in guinea pigs.
The molecular basis of premature adrenarche: an hypothesis.
Hirsutism
Adrenal androgen excess in women: lack of a role for 17-hydroxylase and 17,20-lyase dysregulation.
Hyperaldosteronism
Congenital adrenal hyperplasia causing hypertension: an illustrative review.
Hyperandrogenism
Enzymatic activities of P450c17 stably expressed in fibroblasts from patients with the polycystic ovary syndrome.
Oxidative stress increases the 17,20-lyase-catalyzing activity of adrenal P450c17 through p38? in the development of hyperandrogenism.
Polycystic ovary syndrome.
Hyperinsulinism
Polycystic ovary syndrome.
Hyperkalemia
DELAYED DIAGNOSIS OF A 17-HYDROXYLASE/17,20-LYASE DEFICIENT CASE PRESENTED WITH 46,XY FEMALE: LOW NORMAL POTASSIUM CAN ALERT CLINICIAN.
Hypertension
17-alpha-Hydroxylase deficiency: a case report with clinical and molecular analysis.
17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development.
17?-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
A rare cause of congenital adrenal hyperplasia: Clinical and genetic findings and follow-up characteristics of six patients with 17- hydroxylase deficiency and two novel mutations.
Association of the CYP17 and CYP19 gene polymorphisms in women with polycystic ovary syndrome from Punjab, Pakistan.
Common variant rs11191548 near the CYP17A1 gene is associated with hypertension and the serum 25(OH) D levels in Han Chinese.
Congenital adrenal hyperplasia causing hypertension: an illustrative review.
DELAYED DIAGNOSIS OF A 17-HYDROXYLASE/17,20-LYASE DEFICIENT CASE PRESENTED WITH 46,XY FEMALE: LOW NORMAL POTASSIUM CAN ALERT CLINICIAN.
Diagnosis and treatment of 17-hydroxylase deficiency.
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17?-Hydroxylase/17,20-Lyase Deficiency.
Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17?-hydroxylase/17,20-lyase deficiency.
Identifying a novel mutation of CYP17A1 gene from five Chinese 17?-hydroxylase/17, 20-lyase deficiency patients.
Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report.
Male pseudohermaphroditism as a cause of secondary hypertension: a case report.
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases.
Seventeen Alpha-hydroxylase Deficiency.
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Subtle 17alpha-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman.
Three new Brazilian cases of 17?-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features.
Hypoaldosteronism
Congenital adrenal hyperplasia causing hypertension: an illustrative review.
Hypogonadism
A case of 17 alpha-hydroxylase deficiency with retained menstruation.
Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction.
Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty.
Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility.
Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases.
Three new Brazilian cases of 17?-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features.
Hypokalemia
17?-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
DELAYED DIAGNOSIS OF A 17-HYDROXYLASE/17,20-LYASE DEFICIENT CASE PRESENTED WITH 46,XY FEMALE: LOW NORMAL POTASSIUM CAN ALERT CLINICIAN.
Diagnosis and treatment of 17-hydroxylase deficiency.
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17?-hydroxylase/17,20-lyase deficiency.
Identifying a novel mutation of CYP17A1 gene from five Chinese 17?-hydroxylase/17, 20-lyase deficiency patients.
Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report.
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Two rare forms of congenital adrenal hyperplasia, 11? hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.
Hypospadias
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
Defects of the testosterone biosynthetic pathway in boys with hypospadias.
Infections
17?-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
Enzymatic activities of P450c17 stably expressed in fibroblasts from patients with the polycystic ovary syndrome.
Infertility
A rare enzymatic defect, true isolated 17,20-lyase deficiency leading to endocrine disorders and infertility: case report.
Association of the CYP17 and CYP19 gene polymorphisms in women with polycystic ovary syndrome from Punjab, Pakistan.
Haploinsufficiency of cytochrome P450 17alpha-hydroxylase/17,20 lyase (CYP17) causes infertility in male mice.
Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility.
Insulin Resistance
Enzymatic activities of P450c17 stably expressed in fibroblasts from patients with the polycystic ovary syndrome.
No association between CYP17 -34T/C polymorphism and insulin resistance in Thai polycystic ovary syndrome.
Role of cytochrome P450c17 in polycystic ovary syndrome.
The treatment of insulin resistance does not improve adrenal cytochrome P450c17alpha enzyme dysregulation in polycystic ovary syndrome.
Leiomyoma
A possible role of the cytochrome P450c17alpha gene (CYP17) polymorphism in the pathobiology of uterine leiomyomas from black South African women: a pilot study.
Association of the CYP17 gene polymorphism with risk for uterine leiomyoma in Brazilian women.
Genotype distribution of estrogen receptor-alpha, catechol-O-methyltransferase, and cytochrome P450 17 gene polymorphisms in Caucasian women with uterine leiomyomas.
Liver Diseases
Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients.
Liver Neoplasms
Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients.
Methemoglobinemia
Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility.
Neoplasms
Adrenocortical carcinoma manifesting pure primary aldosteronism: a case report and analysis of steroidogenic enzymes.
cAMP-dependent transactivation involving the homeodomain protein Pbx1.
CYP17 promotor polymorphism and ovarian cancer risk.
Cytochrome b5 expression in gonadectomy-induced adrenocortical neoplasms of the domestic ferret (Mustela putorius furo).
HPLC-RIA analysis of steroid hormone profile in a virilizing stromal tumor of the ovary.
In-vitro evidence for the regulation of 17,20-lyase activity by cytochrome b5 in adrenocortical adenomas from patients with Cushing's syndrome.
Metabolism of pregnenolone by human breast cancer. Evidence for 17 alpha-hydroxylase and 17,20-lyase.
Mouse strain susceptibility to gonadectomy-induced adrenocortical tumor formation correlates with the expression of GATA-4 and luteinizing hormone receptor.
Nature-derived anticancer steroids outside cardica glycosides.
Orteronel (TAK-700), a novel non-steroidal 17,20-lyase inhibitor: Effects on steroid synthesis in human and monkey adrenal cells and serum steroid levels in cynomolgus monkeys.
Tumor necrosis factor alpha, CYP 17, urokinase, and interleukin 10 gene polymorphisms in postmenopausal women: correlation to bone mineral density and susceptibility to osteoporosis.
Osteoporosis
Polymorphisms in the P450 c17 (17-hydroxylase/17,20-Lyase) and P450 c19 (aromatase) genes: association with serum sex steroid concentrations and bone mineral density in postmenopausal women.
Tumor necrosis factor alpha, CYP 17, urokinase, and interleukin 10 gene polymorphisms in postmenopausal women: correlation to bone mineral density and susceptibility to osteoporosis.
Ovarian Cysts
17?-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
Deficiency of 17,20-lyase causing giant ovarian cysts in a girl and a female phenotype in her 46,XY sister: case report.
Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases.
Ovarian Hyperstimulation Syndrome
Ovarian hyperstimulation syndrome with low oestradiol in non-classical 17 alpha-hydroxylase, 17,20-lyase deficiency: what is the role of oestrogens?
Pediatric Obesity
Peer group normalization and urine to blood context in steroid metabolomics: the case of CAH and obesity.
Pituitary ACTH Hypersecretion
Ketoconazole and plasma and urine steroid levels in Cushing's disease.
Use of ketoconazole in the treatment of Cushing's syndrome.
Polycystic Ovary Syndrome
17-Hydroxyprogesterone responses to gonadotrophin-releasing hormone agonist buserelin and adrenocorticotrophin in polycystic ovary syndrome: investigation of adrenal and ovarian cytochrome P450c17alpha dysregulation.
Alternate pathway 17,20-lyase enzyme activity in the adrenals is enhanced in patients with polycystic ovary syndrome.
Differential activity of the cytochrome P450 17alpha-hydroxylase and steroidogenic acute regulatory protein gene promoters in normal and polycystic ovary syndrome theca cells.
Dysregulation of cytochrome P450 17alpha-hydroxylase messenger ribonucleic acid stability in theca cells isolated from women with polycystic ovary syndrome.
Genetic modelling of the estrogen metabolism as a risk factor of hormone-dependent disorders.
Increased cytochrome P450 17alpha-hydroxylase promoter function in theca cells isolated from patients with polycystic ovary syndrome involves nuclear factor-1.
No association between CYP17 -34T/C polymorphism and insulin resistance in Thai polycystic ovary syndrome.
Ovarian steroidogenic responses to gonadotropin-releasing hormone agonist testing with nafarelin in hirsute women with adrenal responses to adrenocorticotropin suggestive of 3 beta-hydroxy-delta 5-steroid dehydrogenase deficiency.
Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases.
Serine phosphorylation of human P450c17 increases 17,20-lyase activity: implications for adrenarche and the polycystic ovary syndrome.
The treatment of insulin resistance does not improve adrenal cytochrome P450c17alpha enzyme dysregulation in polycystic ovary syndrome.
Primary Ovarian Insufficiency
Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases.
Prostatic Diseases
A new class of nonsteroidal aromatase inhibitors: design and synthesis of chromone and xanthone derivatives and inhibition of the P450 enzymes aromatase and 17 alpha-hydroxylase/C17,20-lyase.
Prostatic Hyperplasia
Inhibition of androgen synthesis by 22-hydroximino-23,24-bisnor-4-cholen-3-one.
Shorter CAG repeats in androgen receptor and non-GG genotypes in prostate-specific antigen loci are associated with decreased risk of benign prostatic hyperplasia and prostate cancer.
Prostatic Neoplasms
4-pregnene-3-one-20 beta-carboxaldehyde: a potent inhibitor of 17 alpha-hydroxylase/C17,20-lyase and of 5 alpha-reductase.
A population pharmacokinetic analysis of the oral CYP17 lyase and androgen receptor inhibitor seviteronel in patients with advanced/metastatic castration-resistant prostate cancer or breast cancer.
Abiraterone. Cougar Biotechnology.
Assessment of cytochrome P450-mediated drug-drug interaction potential of orteronel and exposure changes in patients with renal impairment using physiologically based pharmacokinetic modeling and simulation.
Association of a CYP17 polymorphism with overall survival in Caucasian patients with androgen-independent prostate cancer.
Association of the CYP17 gene polymorphism with the risk of prostate cancer: a meta-analysis.
Commentary on "Comparison of abiraterone acetate versus ketoconazole in patients with metastatic castration resistant prostate cancer refractory to docetaxel." Peer A, Gottfried M, Sinibaldi V, Carducci MA, Eisenberger MA, Sella A, Leibowitz-Amit R, Berger R, Keizman D, Department of Oncology, Rambam Medical Center, Haifa, Israel.: Prostate 2014 Apr;74(4):433-40; doi:10.1002/pros.22765. [Epub 2013 Dec 11].
Comparison of abiraterone acetate versus ketoconazole in patients with metastatic castration resistant prostate cancer refractory to docetaxel.
Discovery of orteronel (TAK-700), a naphthylmethylimidazole derivative, as a highly selective 17,20-lyase inhibitor with potential utility in the treatment of prostate cancer.
Homology modelling of the enzyme P450 17 alpha-hydroxylase/17,20-lyase--a target for prostate cancer chemotherapy--from the crystal structure of P450BM-3.
Human steroid biosynthesis for the oncologist.
Imidazole substituted biphenyls: a new class of highly potent and in vivo active inhibitors of P450 17 as potential therapeutics for treatment of prostate cancer.
Inhibition of aromatase (P450Arom) by some 1-(benzofuran-2-ylmethyl)imidazoles.
Inhibition of CYP 17, a new strategy for the treatment of prostate cancer.
Inhibition of p450 17 as a new strategy for the treatment of prostate cancer.
Linkage and association of CYP17 gene in hereditary and sporadic prostate cancer.
Oncology update.
Orteronel plus prednisone in patients with chemotherapy-naive metastatic castration-resistant prostate cancer (ELM-PC 4): a double-blind, multicentre, phase 3, randomised, placebo-controlled trial.
Pharmacokinetics and Urinary Excretion Mechanism of Orteronel (TAK-700), A Novel 17,20-Lyase Inhibitor, in Animals.
Phase 1/2 study of orteronel (TAK-700), an investigational 17,20-lyase inhibitor, with docetaxel-prednisone in metastatic castration-resistant prostate cancer.
Phase 2 Study of Seviteronel (INO-464) in Patients With Metastatic Castration-Resistant Prostate Cancer After Enzalutamide Treatment.
Phase I Study of Seviteronel, a Selective CYP17 Lyase and Androgen Receptor Inhibitor, in Men with Castration-Resistant Prostate Cancer.
Phase I/II Trial of Orteronel (TAK-700)--an Investigational 17,20-Lyase Inhibitor--in Patients with Metastatic Castration-Resistant Prostate Cancer.
Pyridyl substituted benzocycloalkenes: new inhibitors of 17 alpha-hydroxylase/17,20-lyase (P450 17 alpha).
Structural and Functional Evaluation of Clinically-Relevant Inhibitors of Steroidogenic Cytochrome P450 17A1 (CYP17A1).
Synthesis of hydroxy derivatives of highly potent non-steroidal CYP 17 inhibitors as potential metabolites and evaluation of their activity by a non cellular assay using recombinant human enzyme.
Synthesis, biological evaluation, and molecular modeling of abiraterone analogues: novel CYP17 inhibitors for the treatment of prostate cancer.
Targeting the Adrenal Gland in Castration-Resistant Prostate Cancer: A Case for Orteronel, a Selective CYP-17 17,20-Lyase Inhibitor.
[Inhibitors of androgen and estrogen biosynthesis in castration-resistant prostate cancer].
Puberty, Delayed
17?-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene.
Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty.
Sexual Infantilism
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17?-hydroxylase/17,20-lyase deficiency.
Male pseudohermaphroditism as a cause of secondary hypertension: a case report.
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Starvation
Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells.
steroid 11beta-monooxygenase deficiency
Two rare forms of congenital adrenal hyperplasia, 11? hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.
steroid 17alpha-monooxygenase deficiency
17 alpha-Hydroxylase/17,20-lyase defects.
17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development.
17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.
A case of male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency and hormonal profiles in the nuclear family.
A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report.
A rare cause of congenital adrenal hyperplasia: Clinical and genetic findings and follow-up characteristics of six patients with 17- hydroxylase deficiency and two novel mutations.
A rare enzymatic defect, true isolated 17,20-lyase deficiency leading to endocrine disorders and infertility: case report.
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.
A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site.
Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome.
Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase Deficiency.
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
Defects of the testosterone biosynthetic pathway in boys with hypospadias.
DELAYED DIAGNOSIS OF A 17-HYDROXYLASE/17,20-LYASE DEFICIENT CASE PRESENTED WITH 46,XY FEMALE: LOW NORMAL POTASSIUM CAN ALERT CLINICIAN.
Diagnosis and treatment of 17-hydroxylase deficiency.
Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
Impaired 17,20-Lyase Activity in Male Mice Lacking Cytochrome b5 in Leydig Cells.
Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty.
Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.
Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility.
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity.
Molecular basis of 17?-hydroxylase/17,20-lyase deficiency.
Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Ovarian hyperstimulation syndrome with low oestradiol in non-classical 17 alpha-hydroxylase, 17,20-lyase deficiency: what is the role of oestrogens?
Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.
Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair.
Six new cases confirm the clinical molecular profile of complete combined 17?-hydroxylase/ 17,20-lyase deficiency in Brazil.
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Steroid 17alpha-hydroxylase deficiency: first Australian case report.
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.
Subnormal cortisol response to adrenocorticotropin in isolated partial 17,20-lyase deficiency.
Subtle 17alpha-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman.
Successful Delivery in 17,20-Lyase Deficiency.
The genetic and functional basis of isolated 17,20-lyase deficiency.
Towards a unifying mechanism for CYP17 mutations that cause isolated 17,20-lyase deficiency.
Two novel heterozygous mutations in the CYP17A1 gene in a Chinese patient with 17?-hydroxylase 17,20-lyase deficiency.
Two rare forms of congenital adrenal hyperplasia, 11? hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.
[Clinical and genetic analysis of a patient with 17-hydroxylase/17,20-lyase deficiency].
steroid 21-monooxygenase deficiency
The activities of 5?-reductase and 17,20-lyase determine the direction through androgen synthesis pathways in patients with 21-hydroxylase deficiency.
Wilms Tumor
New frontiers on the molecular underpinnings of hypospadias according to severity.