Citations for
1CYP11B1, 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
2CYP11B1
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijˇo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N.
J Clin Endocrinol Metab 95(2):779-88. Epub 2010 Jan 20.PMID: 20089618 2010
3CYP11B1
Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients.
Soardi FC, Penachioni JY, Justo GZ, Bachega TA, Inßcio M, Mendonša BB, de Castro M, de Mello MP.
J Clin Endocrinol Metab 94(9):3481-5. Epub 2009 Jun 30.PMID: 19567537 2009
4CYP11B1, 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
5CYP11B1, GSH
A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism.
Geller DS, Zhang J, Wisgerhof MV, Shackleton C, Kashgarian M, Lifton RP.
J Clin Endocrinol Metab 93(8):3117-23. Epub 2008 May 27.PMID: 18505761 2008
6CYP11B1
Polymorphic variation in the 11beta-hydroxylase gene associates with reduced 11-hydroxylase efficiency.
Barr M, MacKenzie SM, Friel EC, Holloway CD, Wilkinson DM, Brain NJ, Ingram MC, Fraser R, Brown M, Samani NJ, Caulfield M, Munroe PB, Farrall M, Webster J, Clayton D, Dominiczak AF, Connell JM, Davies E.
Hypertension 49(1):113-9. Epub 2006 Oct 30. 2007
7CYP11B1
Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene.
Imrie H, Freel M, Mayosi BM, Davies E, Fraser R, Ingram M, Cordell HJ, Farrall M, Avery PJ, Watkins H, Keavney B, Connell JM.
J Clin Endocrinol Metab 91(12):5051-6. Epub 2006 Sep 19. 2006
8CYP11B1
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.
Krone N, Riepe FG, Gotze D, Korsch E, Rister M, Commentz J, Partsch CJ, Grotzinger J, Peter M, Sippell WG.
J Clin Endocrinol Metab 90(6):3724-30. Epub 2005 Mar 8. 2005
9CYP11B1,CYP11B2
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
10CYP11B1
Mutations in CYP11B1 gene: phenotype-genotype correlations.
Zhu YS, Cordero JJ, Can S, Cai LQ, You X, Herrera C, DeFillo-Ricart M, Shackleton C, Imperato-McGinley J.
Am J Med Genet 122A(3):193-200. 2003
11CYP11A1, 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
12CYP11A1, 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
13CYP11B1
Transcriptional regulation of human 11beta-hydroxylase (hCYP11B1).
Wang XL, Bassett M, Zhang Y, Yin S, Clyne C, White PC, Rainey WE.
Endocrinology 141(10):3587-94. 2000
14CYP11B1
Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency.
Merke DP, Tajima T, Chhabra A, Barnes K, Mancilla E, Baron J, Cutler GB Jr.
J Clin Endocrinol Metab 83(1):270-3. 1998
15CYP11B1
Characterization of polymorphisms at the 11beta-hydroxylase (CYP11B1) locus.
Skinner CA, et al.
Ann Hum Genet 62 : 181-183. 1998
16CYP11B1
CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Joehrer K, Geley S, Strasser-Wozak EM, Azziz R, Wollmann HA, Schmitt K, Kofler R, White PC.
Hum Mol Genet 6(11):1829-34. 1997
17CYP11B1
CYP11B1 mutations causing congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Geley S, et al.
J Clin Endocrinol Metab 81 : 2896-2901. 1996
18CYP11B@, CYP11B1, CYP11B2
Four is not more than two.
Russell DW, et al.
Am J Hum Genet 57 : 1002-1005. 1995
19CYP11B1
Classic steroid 11beta-hydroxylase deficiency caused by a C-G transversion in exon 7 of CYP11B1.
Yang LX, et al.
Biochem Biophys Res Commun 216 : 723-728. 1995
20CYP11B1
Missense mutation in CYP11B1 (CGA[Arg-384] - GGA[Gly]) causes steroid 11beta-hydroxylase deficiency.
Nakagawa Y, et al.
Eur J Endocrinol 132 : 286-289. 1995
21CYP11B1
Steroid 11beta-hydroxylase feficiency caused by a five base pair duplication in the CYP11B1 gene.
Skinner CA, et al.
Hum Mol Genet 3 : 377-378. 1994
22CYP11B1
Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.
Curnow KM, et al.
Proc Natl Acad Sci U S A 90 : 4552-4556. 1993
23CYP11B1, 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
24CYP11B1, 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
25GSH, 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
26CYP11B1
Frameshift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency.
Helmberg A, et al.
J Clin Endocrinol Metab 75 : 1278-1281 1992
27CYP11B1
A mutation in CYP11B1 (Arg-448-His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.
White PC, et al.
J Clin Invest 87 : 1664-1667. 1991
28CYP11B1
Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta.
Kawamoto T, Mitsuuchi Y, Toda K, Miyahara K, Yokoyama Y, Nakao K, Hosoda K, Yamamoto Y, Imura H, Shizuta Y.
FEBS Lett 269(2):345-9. 1990
29CYP11B1
A new form of congenital adrenal hyperplasia.
New MI, et al.
J Clin Endocrinol Metab 27 : 300-305. 1967