Cloning, Expression, and Physical Mapping of the 3β-Hydroxysteroid Dehydrogenase Gene Cluster (HSD3BP1–HSD3BP5) in Human

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

1992 • 1,126 citations

The CpG dinucleotide and human genetic disease

1988 • 946 citations

Structure and Expression of a New Complementary DNA Encoding the almost Exclusive 3β-Hydroxysteroid Dehydrogenase/Δ⁵-Δ⁴-lsomerase in Human Adrenals and Gonads

1991 • 357 citations

Full Length cDNA Structure and Deduced Amino Acid Sequence of Human β-Hydroxy-5-Ene Steroid Dehydrogenase

1989 • 314 citations

Human 3β-Hydroxysteroid Dehydrogenase/ δ5→4Isomerase from Placenta: Expression in Nonsteroidogenic Cells of a Protein that Catalyzes the Dehydrogenation/Isomerization of C21 and C19 Steroids*

1990 • 213 citations

Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells

1990 • 200 citations

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

1993 • 99 citations

Structure and tissue-specific expression of a novel member of the rat 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) family. The exclusive 3 beta-HSD gene expression in the skin.

1993 • 88 citations

A de novo pathological point mutation at the 21–hydroxylase locus: implications for gene conversion in the human genome

1993 • 84 citations

The 3β-hydroxysteroid dehydrogenase gene family of enzymes

1993 • 83 citations

Molecular basis of human 3β-hydroxysteroid dehydrogenase deficiency

1995 • 72 citations

Structure-function relationships of 3β-hydroxysteroid dehydrogenase: Contribution made by the molecular genetics of 3β-hydroxysteroid dehydrogenase deficiency

1997 • 64 citations

Mutation in 3ß-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females

1994 • 61 citations

The mouse 3 beta-hydroxysteroid dehydrogenase multigene family includes two functionally distinct groups of proteins.

1995 • 55 citations

Mutation in the human gene for 3β-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss

1994 • 50 citations

Expression of liver-specific member of the 3 beta-hydroxysteroid dehydrogenase family, an isoform possessing an almost exclusive 3-ketosteroid reductase activity.

1992 • 47 citations

Mutations in the Type II 3β-Hydroxysteroid Dehydrogenase Gene in a Patient with Classic Salt-Wasting 3β-Hydroxysteroid Dehydrogenase Deficiency Congenital Adrenal Hyperplasia

1993 • 42 citations

The Genes Encoding Gonadal and Nongonadal Forms of 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase Are Closely Linked on Mouse Chromosome 3

1993 • 34 citations

Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3β-hydroxysteroid dehydrogenase/Δ<sup>5</sup>-Δ<sup>4</sup>-isomerase close to D1S514 and the centromeric D1Z5 locus

1995 • 32 citations

Molecular cloning and expression of human trophoblast antigen FD0161G and its identification as 3 -hydroxy-5-ene steroid dehydrogenase

1991 • 11 citations

Characterization of cDNAs encoding isoforms of hamster 3 beta-hydroxysteroid dehydrogenase/delta 5-->4 isomerase

1998 • 10 citations

Human 3β-hydroxysteroid dehydrogenase: genes and phenotypes

1996 • 7 citations

The human 3β-hydroxysteroid dehydrogenase (3β-HSD) gene cluster on chromosome 1p13 contains a presumptive pseudogene; 3β-HSD and CYP17 do not segregate with dominantly inherited hirsutism

1995 • 6 citations

No linkage to the 3?-HSD gene cluster in a kindred affected with 3?-hydroxy-?5-C27steroid dehydrogenase deficiency and early onset hepatic failure

1995 • 6 citations

Purification and properties of the 5α-dihydrotestosterone 3α(β)-hydroxysteroid dehydrogenase from human prostatic cytosol

1992 • 6 citations