1 | HSD11B1, HSD11B2
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| Variable expression of 11beta Hydroxysteroid dehydrogenase (11beta-HSD) isoforms in vascular endothelial cells.
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| Gong R, Morris DJ, Brem AS.
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| Steroids 73(11):1187-96. Epub 2008 Jun 3.
2008
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2 | HSD11B2, HSD11B2D
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| Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
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| Atanasov AG, Ignatova ID, Nashev LG, Dick B, Ferrari P, Frey FJ, Odermatt A.
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| J Am Soc Nephrol 18(4):1262-70. Epub 2007 Feb 21.
2007
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3 | CYPHB1, CYPHB2, NR3C2, HSD11B2, SCNN1B, SCNN1G, PSALD, PHA2C, WNK1, PHA2B, WNK4, DIDAN, PPARG, MTHHH, MT-TI
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| The genetic dissection of essential hypertension.
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| Cowley AW Jr.
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| Nat Rev Genet 7(11):829-40. Epub 2006 Oct 10. Review. 2006
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4 | HSD11B2
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| Role of HSD11B2 polymorphisms in essential hypertension and the diuretic response to thiazides.
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| Williams TA, Mulatero P, Filigheddu F, Troffa C, Milan A, Argiolas G, Parpaglia PP, Veglio F, Glorioso N.
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| Kidney Int 67(2):631-7. 2005
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5 | HSD11B1, HSD11B2
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| Localization of 11beta-hydroxysteroid dehydrogenase types 1 and 2 in the male reproductive tract.
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| Waddell BJ, Hisheh S, Krozowski ZS, Burton PJ.
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| Endocrinology 144(7):3101-6. 2003
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6 | HSD11B2, HSD11B2D
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| Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene.
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| Lavery GG, Ronconi V, Draper N, Rabbitt EH, Lyons V, Chapman KE, Walker EA, McTernan CL, Giacchetti G, Mantero F, Seckl JR, Edwards CR, Connell JM, Hewison M, Stewart PM.
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| Hypertension 42(2):123-9. Epub 2003 Jul 14. 2003
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7 | HSD11B2
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| Association studies between the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2), type 1 diabetes mellitus and diabetic nephropathy.
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| Lavery GG, McTernan CL, Bain SC, Chowdhury TA, Hewison M, Stewart PM.
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| Eur J Endocrinol 146(4):553-8. 2002
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8 | ATP6V0D1, HSD11B2
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| Structure of the VPATPD gene encoding subunit D of the human vacuolar proton ATPase.
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| Agarwal AK, White PC.
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| Biochem Biophys Res Commun 279(2):543-7. 2000
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9 | HSD11B2
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| Genotype-phenotype correlations of mutations and polymorphisms in HSD11B2, the gene encoding the kidney isozyme of 11beta-hydroxysteroid dehydrogenase.
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| White PC, Agarwal AK, Nunez BS, Giacchetti G, Mantero F, Stewart PM.
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| Endocr Res 26(4):771-80. Review. 2000
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10 | CYP21A2, HSD11B2
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| Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess.
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| New MI, Wilson RC.
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| Proc Natl Acad Sci U S A 96(22):12790-7 1999
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11 | HSD11B2
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| Expression of 11beta-hydroxysteroid dehydrogenase type 2 (11betaHSD-2) in the developing human adrenal gland and human adrenal cortical carcinoma and adenoma.
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| Coulter CL, Smith RE, Stowasser M, Sasano H, Krozowski ZS, Gordon RD.
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| Mol Cell Endocrinol 154(1-2):71-7 1999
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12 | HSD11B2
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| Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess.
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| Morineau G, Marc JM, Boudi A, Galons H, Gourmelen M, Corvol P, Pascoe L, Fiet J.
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| Hypertension 34(3):435-41 1999
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13 | HSD11B2
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| A new polymorphic restriction site in the human 11 beta-hydroxysteroid dehydrogenase type 2 gene.
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| Smolenicka Z, et al.
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| J Clin Endocrinol Metab 83 : 1814-1817. 1998
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14 | HSD11B2
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| Molecular basis for hypertension in the type II variant of apparent mineralocorticoid excess.
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| Li A, Tedde R, Krozowski ZS, Pala A, Li KX, Shackleton CH, Mantero F, Palermo M, Stewart PM.
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| Am J Hum Genet 63 : 370-379. 1998
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15 | HSD11B2
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| A genetic defect resulting in mild low-renin hypertension.
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| Wilson RC, et al.
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| Proc Natl Acad Sci U S A 95 : 10200-10205. 1998
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16 | HSD11B2, HSD11B2D
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| The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess.
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| Rogoff D, et al.
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| J Clin Endocrinol Metab 83 : 4391-4393. 1998
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17 | HSD11B2
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| A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.
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| Kitanaka S, Katsumata N, Tanae A, Hibi I, Takeyama K, Fuse H, Kato S, Tanaka T.
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| J Clin Endocrinol Metab 82(12):4054-8. 1997
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18 | HSD11B2, HSD11B2D
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| Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11beta-hydroxysteroid dehydrogenase type 2 gene.
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| Stewart PM, et al.
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| Lancet 347 : 88-91. 1996
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19 | HSD11B2
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| Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11beta-hydroxysteroid dehydrogenase.
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| Agarwal AK, et al.
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| Genomics 29 : 195-199. 1995
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20 | HSD11B2, HSD11B2D
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| A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
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| Wilson RC, et al.
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| J Clin Endocrinol Metab 80 : 2263-2266. 1995
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21 | HSD11B2, HSD11B2D
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| Several homozygous mutations in the gene for 11beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.
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| Wilson RC, et al.
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| J Clin Endocrinol Metab 80 : 3145-3150. 1995
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22 | HSD11B2
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| Localization of the gene for human 11beta-hydroxysteroid dehydrogenase type 2 (HSD11B2) to chromosome band 16q22.
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| Krozowski Z, et al.
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| Cytogenet Cell Genet 71 : 124-125. 1995
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23 | HSD11B2
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| Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.
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| Mune T, et al.
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| Nat Genet 10 : 394-399. 1995
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24 | HSD11B2
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| Cloning and tissue distribution of the human 11beta-hydroxysteroid dehydrogenase type 2 enzyme.
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| Albiston AL, et al.
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| Mol Cell Endocrinol 105 : R11-R17. 1994
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