Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency.

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

Alternative mRNA Splicing

1992 • 219 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

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 Deficiency1

1991 • 209 citations

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

1990 • 200 citations

Structure, function and tissue-specific gene expression of 3β-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase enzymes in classical and peripheral intracrine steroidogenic tissues

1992 • 132 citations

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

1991 • 128 citations

Multiple forms of mouse 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase and differential expression in gonads, adrenal glands, liver, and kidneys of both sexes.

1991 • 120 citations

Expansion of the mammalian 3β‐hydroxysteroid dehydrogenase/plant dihydroflavonol reductase superfamily to include a bacterial cholesterol dehydrogenase, a bacterial UDP‐galactose‐4‐epimerase, and open reading frames in vaccinia virus and fish lymphocystis disease virus

1992 • 112 citations

Nonsalt-Losing Congenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase Deficiency with Normal Glomerulosa Function*

1983 • 110 citations

Characterization, Expression, and Immunohistochemical Localization of 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase in Human Skin

1992 • 93 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

Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.

1992 • 57 citations

Steroid Inhibitory Effects upon Human Adrenal 3βHydroxysteroid Dehydrogenase Activity*

1986 • 53 citations

Regulation of steroid-transforming enzymes by endogenous steroids

1983 • 50 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

A novel mouse kidney 3 beta-hydroxysteroid dehydrogenase complementary DNA encodes a 3-ketosteroid reductase instead of a 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase.

1993 • 38 citations

Congenital Adrenal Hyperplasias

1991 • 38 citations

Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273ΔAA in type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin

1994 • 36 citations

Affinity radiolabeling identifies peptides and amino acids associated with substrate binding in human placental 3 beta-hydroxy-delta(5)-steroid dehydrogenase.

1993 • 29 citations

Hypothalamic-pituitary-gonadal axis function in pubertal male and female siblings with glucocorticoid-treated nonsalt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia.

1993 • 26 citations

Codon 367 polymorphism of the human type I 3β-hydroxysteroid dehydrogenase/isomerase gene (HS5DB3)

1991 • 22 citations

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