(Q34246240)

31 July 2017

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title

The genetics, pathophysiology, and management of human deficiencies of P450c17. (English)

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31 July 2017

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R J Auchus

1

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31 July 2017

publication date

1 March 2001

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Endocrinology and Metabolism Clinics of North America

31 July 2017

published in

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31 July 2017

volume

30

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31 July 2017

issue

1

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31 July 2017

page(s)

101-19, vii

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Dehydroepiandrosterone replacement in women with adrenal insufficiency.

31 July 2017

cites work

1 reference

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7 January 2021

Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer

1 reference

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7 January 2021

Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.

1 reference

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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

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7 January 2021

Mechanisms establishing the mineralocorticoid hormone patterns in the 17α-hydroxylase deficiency syndrome

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7 January 2021

17-hydroxylation deficiency in man

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7 January 2021

Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues

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7 January 2021

Adrenarche: A Survey of Rodents, Domestic Animals, and Primates

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7 January 2021

17α-Hydroxylase Deficiency: Mineralocorticoid Hormone Profiles in an Affected Family*

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7 January 2021

17,20-desmolase deficiency in a female newborn, paradoxically virilized in utero

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7 January 2021

Diagnosis and Natural History of 17-Hydroxylase Deficiency in a Newborn Male*

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7 January 2021

Plasma aldosterone and 11-deoxycortisol in term neonates: a reevaluation

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7 January 2021

Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency

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7 January 2021

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

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7 January 2021

P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5.

1 reference

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7 January 2021

A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Plasma and urinary 19-nor-deoxycorticosterone in 17 alpha-hydroxylase deficiency syndrome

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https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Estrogen: consequences and implications of human mutations in synthesis and action

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7 January 2021

Structure and function of cytochromes P450: a comparative analysis of three crystal structures.

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7 January 2021

Female phenotype in a male child due to 17-alpha-hydroxylase deficiency

1 reference

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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

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7 January 2021

Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

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%2FS0889-8529%2808%2970021-5

7 January 2021

The role of cytochrome b5 in the biosynthesis of androgens by human P450c17.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

The unique patterns of plasma aldosterone and 18-hydroxycorticosterone concentrations in the 17 alpha-hydroxylase deficiency syndrome

1 reference

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7 January 2021

Modulation of the activity of human 17 alpha-hydroxylase-17,20-lyase (CYP17) by cytochrome b5: endocrinological and mechanistic implications

1 reference

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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%2FS0889-8529%2808%2970021-5

7 January 2021

Steroid 17 alpha-hydroxylase and 17,20-lyase activities of P450c17: contributions of serine106 and P450 reductase

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Long-term treatment of mineralocorticoid excess syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

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/...

1 reference

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7 January 2021

Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

An Autopsy Case of 17α-Hydroxylase Deficiency with Malignant Hypertension

1 reference

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7 January 2021

Microsomal cytochrome P-450 from neonatal pig testis: two enzymatic activities (17 alpha-hydroxylase and c17,20-lyase) associated with one protein

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Cytochrome b5 promotes the synthesis of delta 16-C19 steroids by homogeneous cytochrome P-450 C21 side-chain cleavage from pig testis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Inhibition of testicular microsomal cytochrome P-450 (17 alpha-hydroxylase/C-17,20-lyase) by estrogens

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Diagnosis and treatment of 17-hydroxylase deficiency.

1 reference

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7 January 2021

Male Pseudohermaphroditism Due to Multiple Defects in Steroid-Biosynthetic Microsomal Mixed-Function Oxidases

1 reference

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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%2FS0889-8529%2808%2970021-5

7 January 2021

In vitro fertilization and primary embryonic cleavage are possible in 17 alpha-hydroxylase deficiency despite extremely low intrafollicular 17 beta-estradiol

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Rainbow trout cytochrome P-450c17 (17 alpha-hydroxylase/17,20-lyase). cDNA cloning, enzymatic properties and temporal pattern of ovarian P-450c17 mRNA expression during oogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Molecular basis of hypokalemic myopathy caused by 17alpha-hydroxylase/17,20-lyase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Spontaneous sexual development and menarche in a female with 17 alpha-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Evidence for dissociation between adrenarche and gonadarche: studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Hormonal regulation of P450scc (20,22-desmolase) and P450c17 (17 alpha-hydroxylase/17,20-lyase) in cultured human granulosa cells

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Heterozygotes for 17 alpha-hydroxylase deficiency can be detected with a short ACTH test

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

17 alpha-Hydroxylase/17,20-lyase defects.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

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%2FS0889-8529%2808%2970021-5

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%2FS0889-8529%2808%2970021-5

7 January 2021

Immunohistochemical study of cytochrome b5 in human adrenal gland and in adrenocortical adenomas from patients with Cushing's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

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%2FS0889-8529%2808%2970021-5

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%2FS0889-8529%2808%2970021-5

7 January 2021

Conversion from pure 17,20-desmolase- to combined 17,20-desmolase/17 alpha-hydroxylase deficiency with age

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Serine phosphorylation of human P450c17 increases 17,20-lyase activity: implications for adrenarche and the polycystic ovary syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

Expression of bovine 17 alpha-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS 1) cells

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2808%2970021-5

7 January 2021

10.1016/S0889-8529(08)70021-5

Identifiers

DOI

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31 July 2017

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