(Q40422416)

20 September 2017

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title

Genetic disorders of steroid hormone synthesis and metabolism (English)

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20 September 2017

M I New

1

1 reference

PubMed ID

7575331

20 September 2017

P C White

series ordinal

2

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20 September 2017

1 July 1995

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20 September 2017

30

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Bailliere's clinical endocrinology and metabolism

inferred from page(s)

published in

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20 September 2017

9

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20 September 2017

3

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20 September 2017

525-554

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Expression of 11 beta-hydroxysteroid dehydrogenase using recombinant vaccinia virus

20 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Assignment of the human 3 beta-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

17-hydroxylation deficiency in man

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

The Product of the CYP11B2 Gene Is Required for Aldosterone Biosynthesis in the Human Adrenal Cortex

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Early one-stage surgical reconstruction of the extremely high vagina in patients with congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Exon 7 Ncol restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

LOCALISATION OF 11β-HYDROXYSTEROID DEHYDROGENASE—TISSUE SPECIFIC PROTECTOR OF THE MINERALOCORTICOID RECEPTOR

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Prenatal diagnosis and treatment of 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Mineralocorticoid action: target tissue specificity is enzyme, not receptor, mediated

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Nonsense mutation causing steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Genetic and pharmacological evidence for more than one human steroid 5 alpha-reductase

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Structure, regulation and role of 3 beta-hydroxysteroid dehydrogenase, 17 beta-hydroxysteroid dehydrogenase and aromatase enzymes in the formation of sex steroids in classical and peripheral intracrine tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Structure of the Human Type II 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4Isomerase (3β-HSD) Gene: Adrenal and Gonadal Specificity

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Human 3 beta-hydroxysteroid dehydrogenase/delta 5----4isomerase from placenta: expression in nonsteroidogenic cells of a protein that catalyzes the dehydrogenation/isomerization of C21 and C19 steroids

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Structure of two in tandem human 17 beta-hydroxysteroid dehydrogenase genes

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Assignment of the gene for adrenal P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase) to human chromosome 10.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Gene structure of cytochrome P-450(M-1) specifically expressed in male rat liver.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Gene structure of human cytochrome P-450(SCC), cholesterol desmolase

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Genotyping Steroid 21-Hydroxylase Deficiency: Hormonal Reference Data*

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Characteristics of short-chain alcohol dehydrogenases and related enzymes

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

A new defect in the peripheral conversion of cortisone to cortisol

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

The natural history of salt-wasting disorders of adrenal and renal origin

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: an inherited form of male pseudohermaphroditism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

The nature of the defect in a salt-wasting disorder in Jews of Iran

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

11-deoxycortisol in amniotic fluid: prenatal diagnosis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

A New Cause of Female Pseudohermaphroditism: Placental Aromatase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Molecular basis of congenital adrenal hyperplasia due to 3 beta- hydroxysteroid dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Syndrome of apparent mineralocorticoid excess. A defect in the cortisol-cortisone shuttle

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Molecular genetics of steroid 5 alpha-reductase 2 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

An abnormality in steroid reductive metabolism in a hypertensive syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

A Syndrome of Apparent Mineralocorticoid Excess Associated with Defects in the Peripheral Metabolism of Cortisol*

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Defective fasciculata zone function as the mechanism of glucocorticoid-remediable aldosteronism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Congenital adrenal hyperplasia. (1).

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Congenital adrenal hyperplasia (2).

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Clinical, biochemical and molecular aspects of 17-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-351X%2895%2980587-7

7 January 2021

10.1016/S0950-351X(95)80587-7

Identifiers

DOI

1 reference

20 September 2017

1 reference

PubMed ID

7575331