Genetic analysis of the cytochrome P‐450c17α (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17α‐hydroxylase deficiency

17-hydroxylation deficiency in man.

1966 • 562 citations

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.

1987 • 449 citations

Cloning and Sequence of the Human Gene for P450cl7 (Steroid 17α-Hydroxylase/17,20 Lyase): Similarity with the Gene for P450c21

1987 • 415 citations

17α-Hydroxylase/17,20-Lyase Deficiency: From Clinical Investigation to Molecular Definition*

1991 • 387 citations

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

1997 • 316 citations

Hormonal Regulation of P450scc (20,22-desmolase) and P450cl7 (17α-hydroxylase/17,20-lyase) in Cultured Human Granulosa Cells*

1986 • 249 citations

Angiotensin II and Potassium Regulate Human CYP11B2 Transcription through Common cis-Elements

1997 • 188 citations

Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.

1992 • 187 citations

Molecular Modeling of Human P450c17 (17α-Hydroxylase/ 17,20-Lyase): Insights into Reaction Mechanisms and Effects of Mutations

1999 • 183 citations

Developmental Expression of Genes for the Stereoidogenic Enzymes P450scc (20,22-Desmolase), P450cl7 (17αHydroxylase/17,20-Lyase), and P450c21 (21-Hydroxylase) in the Human Fetus*

1986 • 181 citations

Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess

1999 • 166 citations

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.

1993 • 154 citations

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

1991 • 153 citations

Disorders of steroid 17 alpha-hydroxylase deficiency.

1994 • 144 citations

Disorders of Steroid 17α-Hydroxylase Deficiency

1994 • 139 citations

Missense mutation serine106—-proline causes 17 alpha-hydroxylase deficiency

1991 • 137 citations

Localization of the human CYP17 gene (cytochrome P45017α) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding

1992 • 98 citations

Characterization of Complementary Deoxyribonucleic Acid for Human Adrenocortical 17α-Hydroxylase: A Probe for Analysis of 17α-Hydroxylase Deficiency*

1987 • 87 citations

Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17.

1996 • 81 citations

Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.

1993 • 73 citations

Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.

1995 • 66 citations

A Single Amino Acid Substitution in the Putative Redox Partner-Binding Site of P450c17 as Cause of Isolated 17,20-Lyase Deficiency1

1997 • 63 citations

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

1994 • 62 citations

Synthesis of corticosterone in the vascular wall.

1994 • 62 citations

P450c11B3 mRNA, Transcribed from a Third P450c11 Gene, Is Expressed in a Tissue-specific, Developmentally, and Hormonally Regulated Fashion in the Rodent Adrenal and Encodes a Protein with Both 11-Hydroxylase and 18-Hydroxylase Activities

1995 • 61 citations

Two Types of Male Pseudohermaphroditism due to 17,20-Desmolase Deficiency*

1982 • 61 citations

Molecular Modeling of Human P450c17 (17 -Hydroxylase/ 17,20-Lyase): Insights into Reaction Mechanisms and Effects of Mutations

1999 • 57 citations

17α-Hydroxylase/17,20-Lyase Deficiency as a Model to Study Enzymatic Activity Regulation: Role of Phosphorylation*

2000 • 56 citations

Genetic Analysis of Aldosterone Synthase in Patients with Idiopathic Hyperaldosteronism1

1999 • 55 citations

Congenitally defective aldosterone biosynthesis in humans: The involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients

1992 • 54 citations

Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.

1996 • 51 citations

Gene expression of 11 beta-hydroxysteroid dehydrogenase in the mesenteric arteries of genetically hypertensive rats.

1994 • 43 citations

Combined 17a- and 18-Hydroxylase Deficiency Associated with Complete Male Pseudohermaphroditism and Hypoaldosteronism*

1978 • 35 citations

Possible Hyperaldosteronism and Discrepancy in Enzyme Activity Deficiency in Adrenal and Gonadal Glands in Japanese Patients with 17 .ALPHA.-Hydroxylase Deficiency.

1989 • 33 citations

Identification of a novel splicing mutation and 1-bp deletion in the 17α-hydroxylase gene of Japanese patients with 17α-hydroxylase deficiency

1998 • 31 citations

Genetic Analysis of Aldosterone Synthase in Patients with Idiopathic Hyperaldosteronism

1999 • 31 citations

Synthesis of corticosterone in the vascular wall

1994 • 25 citations

A Single Amino Acid Substitution in the Putative Redox Partner-Binding Site of P450c17 as Cause of Isolated 17,20-Lyase Deficiency

1997 • 24 citations

The human genome contains only two CYP11B (P450c11) genes.

1996 • 22 citations

Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17

1996 • 21 citations

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

1994 • 20 citations

Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha- hydroxylase/17-20-lyase deficiency in two French Canadian patients

1996 • 18 citations

A new variant of the cytochrome P450c17 (CYP17) gene mutation in three patients with 17 α‐hydroxylase deficiency

1997 • 16 citations

17 -Hydroxylase/17,20-Lyase Deficiency as a Model to Study Enzymatic Activity Regulation: Role of Phosphorylation

2000 • 15 citations

Effect of sodium restriction on urinary excretion of 19-noraldosterone and 18,19-dihydroxycorticosterone, newly identified mineralocorticoids in man.

1992 • 13 citations

The human genome contains only two CYP11B (P450c11) genes

1996 • 11 citations

Effect of sodium restriction on urinary excretion of 19-noraldosterone and 18,19-dihydroxycorticosterone, newly identified mineralocorticoids in man

1992 • 9 citations

A case of male pseudohermaphroditism due to 17.ALPHA.-hydroxylase deficiency.

1982 • 9 citations

Aldosterone biosynthesis in bovine, rat and human adrenal: commonalities and challenges

1991 • 7 citations