(Q36966758)

17 August 2017

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title

Basic concepts and recent developments in human steroid hormone biosynthesis (English)

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17 August 2017

Hans K Ghayee

1

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17 August 2017

Richard J Auchus

series ordinal

2

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17 August 2017

publication date

1 December 2007

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Reviews in Endocrine and Metabolic Disorders

17 August 2017

published in

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17 August 2017

volume

8

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17 August 2017

issue

4

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17 August 2017

page(s)

289-300

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Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

17 August 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11154-007-9052-2

Gastric inhibitory polypeptide-dependent cortisol hypersecretion--a new cause of Cushing's syndrome

21 January 2018

1 reference

12 December 2020

Expression profiles for steroidogenic enzymes in adrenocortical disease

1 reference

12 December 2020

Cushing's syndrome variants secondary to aberrant hormone receptors

1 reference

12 December 2020

Cholesterol side-chain cleavage, cytochrome P450, and the control of steroidogenesis

1 reference

12 December 2020

Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene

1 reference

12 December 2020

Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency

1 reference

12 December 2020

Molecular symmetry of glyceraldehyde-3-phosphate dehydrogenase

1 reference

12 December 2020

Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads

1 reference

12 December 2020

The aldo-keto reductase (AKR) superfamily: an update

1 reference

12 December 2020

Structure and lipid transport mechanism of a StAR-related domain

1 reference

12 December 2020

Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia

1 reference

12 December 2020

Coordinate tropic hormone regulation of mRNAs for insulin-like growth factor II and the cholesterol side-chain-cleavage enzyme, P450scc [corrected], in human steroidogenic tissues

1 reference

12 December 2020

Rapid regulation of steroidogenesis by mitochondrial protein import

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12 December 2020

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 enz

1 reference

12 December 2020

Short-chain dehydrogenases/reductases (SDR)

1 reference

12 December 2020

5α-reduced C21 steroids are substrates for human cytochrome P450c17

1 reference

12 December 2020

CYP17 Mutation E305G Causes Isolated 17,20-Lyase Deficiency by Selectively Altering Substrate Binding

1 reference

12 December 2020

Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency

1 reference

12 December 2020

Regulation of proteins in the cholesterol side-chain cleavage system in JEG-3 and Y-1 cells

1 reference

12 December 2020

The orphan nuclear receptors NURR1 and NGFIB regulate adrenal aldosterone production

1 reference

12 December 2020

Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia

1 reference

12 December 2020

Virilization in bilateral macronodular adrenal hyperplasia controlled by luteinizing hormone

1 reference

12 December 2020

Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty

1 reference

12 December 2020

Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia

1 reference

12 December 2020

Ectopic and abnormal hormone receptors in adrenal Cushing's syndrome

1 reference

12 December 2020

Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency

1 reference

12 December 2020

Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone

1 reference

12 December 2020

5alpha-androstane-3alpha,17beta-diol is formed in tammar wallaby pouch young testes by a pathway involving 5alpha-pregnane-3alpha,17alpha-diol-20-one as a key intermediate

1 reference

12 December 2020

Aberrant expression of human luteinizing hormone receptor by adrenocortical cells is sufficient to provoke both hyperplasia and Cushing's syndrome features

1 reference

12 December 2020

The genetic and functional basis of isolated 17,20-lyase deficiency

1 reference

12 December 2020

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

1 reference

12 December 2020

Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

1 reference

12 December 2020

Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome

1 reference

12 December 2020

Steroidogenic factor 1: a key determinant of endocrine development and function

1 reference

12 December 2020

Adrenocortical tumors, primary pigmented adrenocortical disease (PPNAD)/Carney complex, and other bilateral hyperplasias: the NIH studies

1 reference

12 December 2020

The genetics, pathophysiology, and management of human deficiencies of P450c17.

1 reference

12 December 2020

Propranolol Therapy for Ectopic β-Adrenergic Receptors in Adrenal Cushing's Syndrome

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12 December 2020

Molecular pathology and mechanism of action of the steroidogenic acute regulatory protein, StAR.

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12 December 2020

The backdoor pathway to dihydrotestosterone

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12 December 2020

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

1 reference

12 December 2020

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

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12 December 2020

Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase

1 reference

12 December 2020

Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex

1 reference

12 December 2020

Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype

1 reference

12 December 2020

Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

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12 December 2020

Serum and growth factor requirements for proliferation of human adrenocortical cells in culture: comparison with bovine adrenocortical cells.

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12 December 2020

Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein

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12 December 2020

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

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12 December 2020

Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism

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12 December 2020

The purification, cloning, and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 mouse Leydig tumor cells. Characterization of the steroidogenic acute regulatory protein (StAR)

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12 December 2020

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

1 reference

12 December 2020

The P450 superfamily: update on new sequences, gene mapping, accession numbers, early trivial names of enzymes, and nomenclature

1 reference

12 December 2020

Control of Bovine Adrenal Cortical Cell Proliferation by Fibroblast Growth Factor. Lack of Effect of Epidermal Growth Factor

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12 December 2020

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Cytochromes P-450 and the regulation of steroid synthesis

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12 December 2020

The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase

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12 December 2020

Disorders of steroid 11 beta-hydroxylase isozymes

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12 December 2020

Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types

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12 December 2020

Women with steroid 5 alpha-reductase 2 deficiency have normal concentrations of plasma 5 alpha-dihydroprogesterone during the luteal phase

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12 December 2020

Decreases in ovarian cytochrome P450c17 alpha activity and serum free testosterone after reduction of insulin secretion in polycystic ovary syndrome

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12 December 2020

Regulation of the acute production of steroids in steroidogenic cells

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12 December 2020

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

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12 December 2020

Mitochondrial processing of newly synthesized steroidogenic acute regulatory protein (StAR), but not total StAR, mediates cholesterol transfer to cytochrome P450 side chain cleavage enzyme in adrenal cells

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12 December 2020

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12 December 2020

Structure of chicken muscle triose phosphate isomerase determined crystallographically at 2.5Å resolution: using amino acid sequence data

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12 December 2020

Prostate formation in a marsupial is mediated by the testicular androgen 5 alpha-androstane-3 alpha,17 beta-diol

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12 December 2020

Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1

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12 December 2020

Adrenocorticotropin-independent macronodular adrenocortical hyperplasia associated with multiple colon adenomas/carcinomas which showed a point mutation in the APC gene.

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12 December 2020

Steroidogenic Factor 1: A Key Determinant of Endocrine Development and Function

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12 December 2020

10.1007/S11154-007-9052-2

Identifiers

DOI

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17 August 2017

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