Citations for
Phospholipase D activity underlies very-low-density lipoprotein (VLDL)-induced aldosterone production in adrenal glomerulosa cells.
Tsai YY, Rainey WE, Pan ZQ, Frohman MA, Choudhary V, Bollag WB.
Endocrinology 155(9):3550-60. doi: 10.1210/en.2014-1159. Epub 2014 Jun 23. 2014
APEX1 regulation of aldosterone synthase gene transcription is disrupted by a common polymorphism in humans.
McManus F, Sands W, Diver L, MacKenzie SM, Fraser R, Davies E, Connell JM.
Circ Res 111(2):212-9. doi: 10.1161/CIRCRESAHA.111.262931. Epub 2012 May 31. 2012
3CYP11B1, CYP11B2
Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism.
Zhang GX, Wang BJ, Ouyang JZ, Deng XY, Ma X, Li HZ, Wu Z, Liu SL, Xu H, Zhang X.
Hypertens Res 33(5):478-84. Epub 2010 Mar 26.PMID: 20339375 2010
Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses.
Nguyen HH, Hannemann F, Hartmann MF, Malunowicz EM, Wudy SA, Bernhardt R.
Mol Genet Metab 100(4):357-64. Epub 2010 May 21.PMID: 20494601 2010
5CMO1, CYP11B2
A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.
Løvås K, McFarlane I, Nguyen HH, Curran S, Schwabe J, Halsall D, Bernhardt R, Wallace AM, Chatterjee VK.
J Clin Endocrinol Metab 94(3):914-9. Epub 2008 Dec 30. 2009
6CYP11B1, CYP11B2, NR5A1
Differential effects of high and low steroidogenic factor-1 expression on CYP11B2 expression and aldosterone production in adrenocortical cells.
Ye P, Nakamura Y, Lalli E, Rainey WE.
Endocrinology 150(3):1303-9. Epub 2008 Oct 30.PMID: 18974272 2009
Aldosterone synthase deficiency caused by a homozygous L451F mutation in the CYP11B2 gene.
Nguyen HH, Hannemann F, Hartmann MF, Wudy SA, Bernhardt R.
Mol Genet Metab 93(4):458-67. Epub 2008 Feb 21. 2008
Investigation of major genetic polymorphisms in the Renin-Angiotensin-aldosterone system in subjects with young-onset hypertension selected by a targeted-screening system at university.
Miyama N, Hasegawa Y, Suzuki M, Hida W, Kazama I, Hatano R, Sanada S, Arata T, Michimata M, Sato A, Satomi S, Matsubara M.
Clin Exp Hypertens 29(1):61-7. 2007
RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy.
Kaufman BD, Auerbach S, Reddy S, Manlhiot C, Deng L, Prakash A, Printz BF, Gruber D, Papavassiliou DP, Hsu DT, Sehnert AJ, Chung WK, Mital S.
Hum Genet 122(5):515-23. Epub 2007 Sep 13. 2007
Novel protein kinase C-epsilon inhibits human CYP11B2 gene expression through ERK1/2 signalling pathway and JunB.
LeHoux JG, Lefebvre A.
J Mol Endocrinol 36(1):51-64. 2006
Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion.
Keavney B, Mayosi B, Gaukrodger N, Imrie H, Baker M, Fraser R, Ingram M, Watkins H, Farrall M, Davies E, Connell J.
J Clin Endocrinol Metab 90(2):1072-7. Epub 2004 Nov 2. 2005
Molecular identity and gene expression of aldosterone synthase cytochrome P450.
Okamoto M, Nonaka Y, Takemori H, Doi J.
Biochem Biophys Res Commun 338(1):325-30. Epub 2005 Aug 10. Review. 2005
Haplotypic analyses of the aldosterone synthase gene CYP11B2 associated with stage-2 hypertension in northern Han Chinese.
Gu D, Ge D, He J, Li B, Chen J, Liu D, Chen J, Chen R.
Clin Genet 66(5):409-16. 2004
14CYP11A1, CYP11B1, CYP11B2, CYP17A1D, CYP19A1, GATA4, NR0B1, NR2F1, NR2F2, NR5A1, PCNA, COPS2
DAX1 and its network partners: exploring complexity in development.
Clipsham R, McCabe ER.
Mol Genet Metab 80(1-2):81-120. 2003
Haplotype analysis of aldosterone synthase gene (CYP11B2) polymorphisms shows association with essential hypertension.
Kumar NN, Benjafield AV, Lin RC, Wang WY, Stowasser M, Morris BJ.
J Hypertens 21(7):1331-7. 2003
16FHA2, GSH, CYP11B2
New genetic insights in familial hyperaldosteronism.
Jackson RV, Lafferty A, Torpy DJ, Stratakis C.
Ann N Y Acad Sci 970:77-88. Review. 2002
17CYP11A1, CYP11B1, CYP11B2, CYP21A2
Steroidogenic enzyme gene expression in the human heart.
Kayes-Wandover KM, White PC.
J Clin Endocrinol Metab 85(7):2519-25. 2000
Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2.
Davies E, et al.
Hypertension 33(2):703-7. 1999
Sequence diversity in 36 candidate genes for cardiovascular disorders.
Cambien F, Poirier O, Nicaud V, Herrmann SM, Mallet C, Ricard S, Behague I, Hallet V, Blanc H, Loukaci V, Thillet J, Evans A, Ruidavets JB, Arveiler D, Luc G, Tiret L.
Am J Hum Genet 65(1):183-91. 1999
Human CYP11B2 (aldosterone synthase) maps to chromosome 8q24.3.
Taymans SE, et al.
J Clin Endocrinol Metab 83 : 1033-1036. 1998
Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies.
Peter M, et al.
Eur J Endocrinol 139 : 96-100. 1998
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
Portrat-Doyen S, Tourniaire J, Richard O, Mulatero P, Aupetit-Faisant B, Curnow KM, Pascoe L, Morel Y.
J Clin Endocrinol Metab 83 : 4156-4161. 1998
23CYP11B2, CMO1
CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).
Nomoto S, Massa G, Mitani F, Ishimura Y, Miyahara K, Toda K, Nagano I, Yamashiro T, Ogoshi S, Fukata J, Onishi S, Hashimoto K, Doi Y, Imura H, Shizuta Y.
Biochem Biophys Res Commun 234(2):382-5. 1997
24CYP11B2, CMO2
Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency.
Fardella CE, et al.
J Clin Endocrinol Metab 81 : 321-326. 1996
25CYP11B2, CMO2
Mutation T3I8M in the CYPIIB2 gene encoding P450cIIAS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.
Zhang G, et al.
Am J Hum Genet 57 : 1037-1043. 1995
26CYP11B@, CYP11B1, CYP11B2
Four is not more than two.
Russell DW, et al.
Am J Hum Genet 57 : 1002-1005. 1995
A polymorphic poly-A sequence in the 5' region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11beta-hydroxylase genes defects.
Clot F, et al.
Hum Genet 94 : 316-317. 1994
28CYP11B2, CMO1
Congenitally defective aldosterone biosynthesis in humans : inactivation of the P-450-C18 gene (CYP11B2) due to nucleotide deletion in CMO1 deficient patients.
Mitsuuchi Y, et al.
Biochem Biophys Res Commun 190 : 864-869. 1993
29CYP11B1, CYP11B2, GSH
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.
Lifton RP, et al.
Nature 355 : 262-265. 1992
Congenitally defective aldosterone biosynthesis in humans : the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMOII deficient patients.
Mitsuuchi Y, et al.
Biochem Biophys Res Commun 182 : 974-979. 1992
31CYP11B2, CMO2
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.
Pascoe L, et al.
Proc Natl Acad Sci U S A 89 : 4996-5000. 1992
32CYP11B1, CYP11B2, GSH
Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase.
Lifton RP, et al.
Nat Genet 2 : 66-74. 1992
33GSH, CYP11B1, CYP11B2
The chimeric gene linked to glucocorticoid-suppressible hyperaldosteronism encodes a fused P-450 protein possessing aldosterone synthase activity.
Miyahara K, et al.
Biochem Biophys Res Commun 189 : 885-891. 1992
34CYP11B2, CMO2
Aldosterone deficiency II (CMO II deficiency) is not the result of a mutation of an MspI restriction site within the CYP11B gene.
Mayerova A, et al.
Hum Genet 87 : 97-98. 1991
The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex.
Curnow KM, et al.
Mol Endocrinol 5 : 1513-1522. 1991
Cloning and expression of a cDNA for human cytochrome P-450-aldo as related to primary aldosteronism.
Kawamoto T, et al.
Biochem Biophys Res Commun 173 : 309-316. 1990
An inherited defect in aldosterone biosynthesis caused by a mutation in or near the gene for steroid 11-hydroxylase.
Globerman H, et al.
N Engl J Med 319 : 1193-1197. 1988
38CYP11B2, GSH
Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone.
Sutherland DJ, et al.
Can Med Assoc J 95 : 1109-1119. 1966