11β-Hydroxysteroid Dehydrogenase and Its Role in the Syndrome of Apparent Mineralocorticoid Excess

White, 1994, Disorders of aldosterone biosynthesis and action, N Engl J Med, 331, 250, 10.1056/NEJM199407283310408 White, 1994, Disorders of steroid 11 beta hydroxylase isozymes, Endocr Rev, 15, 421 Ulick, 1979, A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol, J Clin Endocrinol Metab, 49, 757, 10.1210/jcem-49-5-757 Oberfield, 1983, Metabolic and blood pressure responses to hydrocortisone in the syndrome of apparent mineralocorticoid excess, J Clin Endocrinol Metab, 56, 332, 10.1210/jcem-56-2-332 Shackleton, 1985, Congenital 11 beta-hydroxysteroid dehydrogenase deficiency associated with juvenile hypertension: corticosteroid metabolite profiles of four patients and their families, Clin Endocrinol Oxf, 22, 701, 10.1111/j.1365-2265.1985.tb00160.x Stewart, 1987, Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid dehydrogenase deficiency comes of age, Lancet, 2, 821, 10.1016/S0140-6736(87)91014-2 Monder, 1989, Licorice inhibits corticosteroid 11 beta-dehydrogenase of rat kidney and liver: in vivo and in vitro studies, Endocrinology, 125, 1046, 10.1210/endo-125-2-1046 Arriza, 1987, Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor, Science, 237, 268, 10.1126/science.3037703 Krozowski, 1983, Renal mineralocorticoid receptors and hippocampal corticosterone binding species have identical intrinsic steroid specificity, Proc Natl Acad Sci U S A, 80, 6056, 10.1073/pnas.80.19.6056 Edwards, 1988, Localisation of 11 beta-hydroxysteroid dehydrogenase–tissue specific protector of the mineralocorticoid receptor, Lancet, 2, 986, 10.1016/S0140-6736(88)90742-8 Funder, 1988, Mineralocorticoid action: target tissue specificity is enzyme, not receptor, mediated, Science, 242, 583, 10.1126/science.2845584 Lakshmi, 1988, Purification and characterization of the corticosteroid 11 beta-dehydrogenase component of the rat liver 11 beta-hydroxysteroid dehydrogenase complex, Endocrinology, 123, 2390, 10.1210/endo-123-5-2390 Agarwal, 1989, Cloning and expression of rat cDNA encoding corticosteroid 11 beta-dehydrogenase, J Biol Chem, 264, 18939, 10.1016/S0021-9258(19)47248-7 Tannin, 1991, The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure, tissue distribution, and chromosomal localization, J Biol Chem, 266, 16653, 10.1016/S0021-9258(18)55351-5 Nikkila, 1993, Defects in the HSD11 gene encoding 11β-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency, J Clin Endocrinol Metab, 77, 687 Rusvai, 1993, A new isoform of 11 beta-hydroxysteroid dehydrogenase in aldosterone target cells, J Biol Chem, 268, 10717, 10.1016/S0021-9258(18)82044-0 Brown, 1993, Human placental 11 beta-hydroxysteroid dehydrogenase: evidence for and partial purification of a distinct NAD-dependent isoform, Endocrinology, 132, 2614, 10.1210/endo.132.6.8504762 Agarwal, 1994, NAD+-dependent isoform of 11 beta hydroxysteroid dehydrogenase: cloning and characterization of cDNA from sheep kidney, J Biol Chem, 269, 25959, 10.1016/S0021-9258(18)47142-6 Albiston, 1994, Cloning and tissue distribution of the human 11-HSD type 2 enzyme, Mol Cell Endocrinol, 105, R11, 10.1016/0303-7207(94)90176-7 Wu, 1993, Expression cloning and characterization of human 17 beta-hydroxysteroid dehydrogenase type 2, a microsomal enzyme possessing 20 alpha-hydroxysteroid dehydrogenase activity, J Biol Chem, 268, 12964, 10.1016/S0021-9258(18)31480-7 Persson, 1991, Characteristics of short-chain alcohol dehydrogenases and related enzymes, Eur J Biochem, 200, 537, 10.1111/j.1432-1033.1991.tb16215.x Obeid, 1992, Tyr-179 and Lys-183 are essential for enzymatic activity of 11 beta-hydroxysteroid dehydrogenase, Biochem Biophys Res Commun, 188, 222, 10.1016/0006-291X(92)92373-6 Ghosh, 1991, Three-dimensional structure of holo 3 alpha,20 beta-hydroxysteroid dehydrogenase: a member of a short-chain dehydrogenase family, Proc Natl Acad Sci U S A, 88, 10064, 10.1073/pnas.88.22.10064 Odermatt, 1999, The N-terminal anchor sequences of 11beta-hydroxysteroid dehydrogenases determine their orientation in the endoplasmic reticulum membrane, J Biol Chem, 274, 28762, 10.1074/jbc.274.40.28762 Agarwal, 1995, Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11β-hydroxysteroid dehydrogenase, Genomics, 29, 195, 10.1006/geno.1995.1231 Agarwal, 1996, Analysis of the promoter of the NAD+ dependent 11β-hydroxysteroid dehydrogenase (HSD11K) gene in JEG-3 human choriocarcinoma cells, Mol Cell Endocrinol, 121, 93, 10.1016/0303-7207(96)03855-5 Casey, 1994, 17-HSD type 2: chromosomal assignment and progestin regulation of gene expression in human endometrium, J Clin Invest, 94, 2135, 10.1172/JCI117569 Zhou, 1995, Cloning, expression, and tissue distribution of the rat nicotinamide adenine dinucleotide-dependent 11 beta-hydroxysteroid dehydrogenase, Endocrinology, 136, 3729, 10.1210/endo.136.9.7649078 Cole, 1995, Cloning of the mouse 11 beta-hydroxysteroid dehydrogenase type 2 gene: tissue specific expression and localization in distal convoluted tubules and collecting ducts of the kidney, Endocrinology, 136, 4693, 10.1210/endo.136.10.7664690 Naray-Fejes-Toth, 1995, Expression cloning of the aldosterone target cell-specific 11 beta-hydroxysteroid dehydrogenase from rabbit collecting duct cells, Endocrinology, 136, 2579, 10.1210/endo.136.6.7750480 Roland, 1995, Glucocorticoid receptor, mineralocorticoid receptors, 11 beta-hydroxysteroid dehydrogenase-1 and -2 expression in rat brain and kidney: in situ studies, Mol Cell Endocrinol, 111, R1, 10.1016/0303-7207(95)03559-P Whorwood, 1995, Detection of human 11 beta-hydroxysteroid dehydrogenase isoforms using reverse-transcriptase-polymerase chain reaction and localization of the type 2 isoform to renal collecting ducts, Mol Cell Endocrinol, 110, R7, 10.1016/0303-7207(95)03546-J Krozowski, 1995, Immunohistochemical localization of the 11 beta-hydroxysteroid dehydrogenase type II enzyme in human kidney and placenta, J Clin Endocrinol Metab, 80, 2203 Kyossev, 1996, Immunolocalization of NAD-dependent 11β-hydroxysteroid dehydrogenase in human kidney and colon, Kidney Int, 49, 271, 10.1038/ki.1996.39 Roland, 1996, Localization of 11β-hydroxysteroid dehydrogenase type 2 in rat tissues: in situ studies, Endocrinology, 137, 1123, 10.1210/endo.137.3.8603583 Yang, 1995, Cellular localization of 11 beta-hydroxysteroid dehydrogenase 2 gene expression in the ovine adrenal gland, Mol Cell Endocrinol, 111, R19, 10.1016/0303-7207(95)03574-Q Roland, 1995, Hybridization histochemical localization of 11 beta-hydroxysteroid dehydrogenase type 2 in rat brain, Endocrinology, 136, 4697, 10.1210/endo.136.10.7664691 Brown, 1996, The ontogeny of 11β-hydroxysteroid dehydrogenase type 2 and mineralocorticoid receptor gene expression reveal intricate control of glucocorticoid action in development, Endocrinology, 137, 794, 10.1210/endo.137.2.8593833 Mune, 1995, Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase, Nat Genet, 10, 394, 10.1038/ng0895-394 Wilson, 1995, A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess, J Clin Endocrinol Metab, 80, 2263 Wilson, 1995, Several homozygous mutations in the gene for 11β-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess, J Clin Endocrinol Metab, 80, 3145 Stewart, 1996, Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11β-hydroxysteroid dehydrogenase type 2 gene, Lancet, 347, 88, 10.1016/S0140-6736(96)90211-1 Mune, 1996, Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype, Hypertension, 27, 1193, 10.1161/01.HYP.27.6.1193 Li, 1998, Molecular basis for hypertension in the “type II variant” of apparent mineralocorticoid excess, Am J Hum Genet, 63, 370, 10.1086/301955 Wilson, 1998, A genetic defect resulting in mild low-renin hypertension, Proc Natl Acad Sci U S A, 95, 10200, 10.1073/pnas.95.17.10200 Nunez, 1999, Mutants of 11beta-hydroxysteroid dehydrogenase (HSD11B2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess, Hypertension, 34, 638, 10.1161/01.HYP.34.4.638 Speiser, 1992, Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency, J Clin Invest, 90, 584, 10.1172/JCI115897 Agarwal, 1990, Expression of 11 beta-hydroxysteroid dehydrogenase using recombinant vaccinia virus, Mol Endocrinol, 4, 1827, 10.1210/mend-4-12-1827 Palermo, 1996, Urinary free cortisone and the assessment of 11beta-hydroxysteroid dehydrogenase activity in man, Clin Endocrinol Oxf, 45, 605, 10.1046/j.1365-2265.1996.00853.x Anonymous, 1987, Report of the Second Task Force on Blood Pressure Control in Children–1987. Task Force on Blood Pressure Control in Children. National Heart, Lung, and Blood Institute, Bethesda, Maryland, Pediatrics, 79, 1 Smolenicka, 1998, A new polymorphic restriction site in the human 11 beta-hydroxysteroid dehydrogenase type 2 gene, J Clin Endocrinol Metab, 83, 1814 White, 1997, 11-beta-hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess, Endocr Rev, 18, 135 Agarwal, 2000, CA-repeat polymorphism in intron 1 of HSD11B2: effects on gene expression and salt sensitivity, Hypertension, 36, 187, 10.1161/01.HYP.36.2.187