{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T10:18:52Z","timestamp":1753438732763},"reference-count":47,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2004,2,1]],"date-time":"2004-02-01T00:00:00Z","timestamp":1075593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular and Cellular Endocrinology"],"published-print":{"date-parts":[[2004,2]]},"DOI":"10.1016\/j.mce.2003.10.056","type":"journal-article","created":{"date-parts":[[2003,12,31]],"date-time":"2003-12-31T12:13:11Z","timestamp":1072872791000},"page":"167-174","source":"Crossref","is-referenced-by-count":8,"title":["Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production"],"prefix":"10.1016","volume":"214","author":[{"given":"J\u00e9r\u00f4me","family":"Nicod","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernhard","family":"Dick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felix J","family":"Frey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.mce.2003.10.056_BIB1","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1677\/jme.0.0280125","article-title":"Differential regulation of aldosterone synthase and 11\u03b2-hydroxylase transcription by steroidogenic factor-1","volume":"28","author":"Bassett","year":"2002","journal-title":"J. Mol. Endocrinol."},{"key":"10.1016\/j.mce.2003.10.056_BIB2","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1046\/j.1432-1033.2002.02729.x","article-title":"The effect of amino-acid substitutions I112P, D147E and K152N in CYP11B2 on the catalytic activities of the enzyme","volume":"269","author":"Bechtel","year":"2002","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.mce.2003.10.056_BIB3","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1046\/j.1432-1327.1998.2520458.x","article-title":"Conferring aldosterone synthesis to human CYP11B1 by replacing key amino acid residues with CYP11B2-specific ones","volume":"252","author":"Bottner","year":"1998","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.mce.2003.10.056_BIB4","doi-asserted-by":"crossref","first-page":"7193","DOI":"10.1073\/pnas.84.20.7193","article-title":"Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)","volume":"84","author":"Chua","year":"1987","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mce.2003.10.056_BIB5","doi-asserted-by":"crossref","first-page":"16555","DOI":"10.1074\/jbc.270.28.16555","article-title":"Molecular variants in the P450c11AS gene as determinants of aldosterone synthase activity in the Dahl rat model of hypertension","volume":"270","author":"Cover","year":"1995","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mce.2003.10.056_BIB6","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1210\/mend-5-10-1513","article-title":"The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex","volume":"5","author":"Curnow","year":"1991","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/j.mce.2003.10.056_BIB7","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/nsb0197-32","article-title":"The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme","volume":"4","author":"Curnow","year":"1997","journal-title":"Nat. Struct. Biol."},{"key":"10.1016\/j.mce.2003.10.056_BIB8","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/S0039-128X(96)00245-0","article-title":"Investigation of the mineralocorticoid and hypertensinogenic activity of 18-hydroxycortisol in conscious sheep","volume":"62","author":"De Matteo","year":"1997","journal-title":"Steroids"},{"key":"10.1016\/j.mce.2003.10.056_BIB9","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1210\/jc.80.3.1040","article-title":"Artificial mutations in P450c11AS (aldosterone synthase) can increase enzymatic activity: a model for low-renin hypertension?","volume":"80","author":"Fardella","year":"1995","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB10","doi-asserted-by":"crossref","first-page":"4347","DOI":"10.1210\/jc.81.12.4347","article-title":"Genetic variation in P450c11AS in Chilean patients with low renin hypertension","volume":"81","author":"Fardella","year":"1996","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB11","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1210\/jc.85.5.1863","article-title":"Primary hyperaldosteronism in essential hypertensives: prevalence, biochemical profile, and molecular biology","volume":"85","author":"Fardella","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB12","doi-asserted-by":"crossref","first-page":"4805","DOI":"10.1210\/jc.86.10.4805","article-title":"Genetic study of patients with dexamethasone-suppressible aldosteronism without the chimeric CYP11B1\/CYP11B2 gene","volume":"86","author":"Fardella","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB13","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1161\/hy1101.096112","article-title":"In vivo 11\u03b2HSD-2 activity: variability, salt-sensitivity, and effect of licorice","volume":"38","author":"Ferrari","year":"2001","journal-title":"Hypertension"},{"key":"10.1016\/j.mce.2003.10.056_BIB14","doi-asserted-by":"crossref","first-page":"4326","DOI":"10.1210\/jc.86.9.4326","article-title":"Effects of 18-hydroxylated steroids on corticosteroid production by human aldosterone synthase and 11beta-hydroxylase","volume":"86","author":"Fisher","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB15","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1210\/jc.85.3.1261","article-title":"Amino acid residue 147 of human aldosterone synthase and 11beta-hydroxylase plays a key role in 11beta-hydroxylation","volume":"85","author":"Fisher","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB16","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1210\/endo-115-2-462","article-title":"Receptor binding and biological activity of 18-hydroxycortisol","volume":"115","author":"Gomez-Sanchez","year":"1984","journal-title":"Endocrinology"},{"key":"10.1016\/j.mce.2003.10.056_BIB17","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1210\/jcem-59-5-1022","article-title":"Elevated urinary excretion of 18-oxocortisol in glucocorticoid-suppressible aldosteronism","volume":"59","author":"Gomez-Sanchez","year":"1984","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB18","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0022-4731(87)90176-2","article-title":"Role of 18-hydroxylated cortisols in hypertension","volume":"27","author":"Gomez-Sanchez","year":"1987","journal-title":"J. Steroid. Biochem."},{"key":"10.1016\/j.mce.2003.10.056_BIB19","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1093\/ajh\/3.7.576","article-title":"Correctable subsets of primary aldosteronism. Primary adrenal hyperplasia and renin responsive adenoma","volume":"3","author":"Irony","year":"1990","journal-title":"Am. J. Hypertens."},{"key":"10.1016\/j.mce.2003.10.056_BIB20","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1210\/jc.81.6.2298","article-title":"Altered 11\u03b2-hydroxylase activity in glucocorticoid-suppressible hyperaldosteronism","volume":"81","author":"Jamieson","year":"1996","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB21","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1006\/bbrc.1995.1225","article-title":"A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension","volume":"207","author":"Jonsson","year":"1995","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.mce.2003.10.056_BIB22","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1073\/pnas.89.4.1458","article-title":"Role of steroid 11\u03b2-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans","volume":"89","author":"Kawamoto","year":"1992","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"issue":"1","key":"10.1016\/j.mce.2003.10.056_BIB23","doi-asserted-by":"crossref","first-page":"194s","DOI":"10.1016\/S0753-3322(00)80043-8","article-title":"Urinary steroid profile in adrenocortical tumors","volume":"54","author":"Kikuchi","year":"2000","journal-title":"Biomed. Pharmacother."},{"key":"10.1016\/j.mce.2003.10.056_BIB24","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.3109\/07435800009048634","article-title":"Regulation of CYP11B2 gene expression by protein kinase C","volume":"26","author":"LeHoux","year":"2000","journal-title":"Endocr. Res."},{"key":"10.1016\/j.mce.2003.10.056_BIB25","doi-asserted-by":"crossref","first-page":"8021","DOI":"10.1074\/jbc.M009495200","article-title":"Control of CYP11B2 gene expression through differential regulation of its promoter by atypical and conventional protein kinase C isoforms","volume":"276","author":"LeHoux","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mce.2003.10.056_BIB26","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1038\/sj.ejhg.5200338","article-title":"Two buffer PAGE system-based SSCP\/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease","volume":"7","author":"Liechti-Gallati","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.mce.2003.10.056_BIB27","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/ng0992-66","article-title":"Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase","volume":"2","author":"Lifton","year":"1992","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mce.2003.10.056_BIB28","doi-asserted-by":"crossref","first-page":"E608","DOI":"10.1152\/ajpendo.00043.2001","article-title":"Mutations in aldosterone synthase gene of Milan hypertensive rats: phenotypic consequences","volume":"282","author":"Lloyd-MacGilp","year":"2002","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB29","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1046\/j.1523-1755.2001.00769.x","article-title":"Genetic polymorphisms of the renin-angiotensin-aldosterone system in end-stage renal disease","volume":"60","author":"Lovati","year":"2001","journal-title":"Kidney Int."},{"key":"10.1016\/j.mce.2003.10.056_BIB30","doi-asserted-by":"crossref","first-page":"4328","DOI":"10.1210\/jc.83.12.4328","article-title":"Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism","volume":"83","author":"MacConnachie","year":"1998","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB31","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/BF03348648","article-title":"Determination of urinary 18-hydroxycortisol in the diagnosis of primary aldosteronism","volume":"15","author":"Miyamori","year":"1992","journal-title":"J. Endocrinol. Invest."},{"key":"10.1016\/j.mce.2003.10.056_BIB32","doi-asserted-by":"crossref","first-page":"20961","DOI":"10.1016\/S0021-9258(19)30030-4","article-title":"Characterization of two genes encoding human steroid 11\u03b2-hydroxylase (P-450(11) beta)","volume":"264","author":"Mornet","year":"1989","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mce.2003.10.056_BIB33","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1161\/01.HYP.38.3.688","article-title":"Serum 18-hydroxycortisol in primary aldosteronism, hypertension, and normotensives","volume":"38","author":"Mosso","year":"2001","journal-title":"Hypertension"},{"key":"10.1016\/j.mce.2003.10.056_BIB34","doi-asserted-by":"crossref","first-page":"2573","DOI":"10.1210\/jc.83.7.2573","article-title":"Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene","volume":"83","author":"Mulatero","year":"1998","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB35","doi-asserted-by":"crossref","first-page":"3996","DOI":"10.1210\/jc.83.11.3996","article-title":"Recombinant CYP11B genes encode enzymes that can catalyze conversion of 11-deoxycortisol to cortisol, 18-hydroxycortisol, and 18-oxocortisol","volume":"83","author":"Mulatero","year":"1998","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB36","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1530\/eje.0.1440397","article-title":"Absence of D147E mutation of CYP11B2 gene in hypertensive patients with increased corticosterone and aldosterone production","volume":"144","author":"Mulatero","year":"2001","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.mce.2003.10.056_BIB37","doi-asserted-by":"crossref","first-page":"4996","DOI":"10.1073\/pnas.89.11.4996","article-title":"Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency","volume":"89","author":"Pascoe","year":"1992","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mce.2003.10.056_BIB38","doi-asserted-by":"crossref","first-page":"4228","DOI":"10.1210\/jc.84.11.4228","article-title":"Mutations in CYP11B1 gene converting 11beta-hydroxylase into an aldosterone-producing enzyme are not present in aldosterone-producing adenomas","volume":"84","author":"Pilon","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB39","doi-asserted-by":"crossref","first-page":"4156","DOI":"10.1210\/jc.83.11.4156","article-title":"Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene","volume":"83","author":"Portrat-Doyen","year":"1998","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB40","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0303-7207(99)00051-9","article-title":"Adrenal zonation: clues from 11beta-hydroxylase and aldosterone synthase","volume":"151","author":"Rainey","year":"1999","journal-title":"Mol. Cell Endocrinol."},{"key":"10.1016\/j.mce.2003.10.056_BIB41","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/S0378-4347(00)80683-0","article-title":"Profiling steroid hormones and urinary steroids","volume":"379","author":"Shackleton","year":"1986","journal-title":"J. Chromatogr."},{"key":"10.1016\/j.mce.2003.10.056_BIB42","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/0039-128X(94)00023-6","article-title":"Inborn errors of aldosterone biosynthesis in humans","volume":"60","author":"Shizuta","year":"1995","journal-title":"Steroids"},{"key":"10.1016\/j.mce.2003.10.056_BIB43","doi-asserted-by":"crossref","first-page":"2389","DOI":"10.1210\/jc.81.6.2389","article-title":"Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene","volume":"81","author":"Skinner","year":"1996","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB44","doi-asserted-by":"crossref","first-page":"2320","DOI":"10.1210\/endo-113-6-2320","article-title":"18-Oxocortisol, a naturally occurring mineralocorticoid agonist","volume":"113","author":"Ulick","year":"1983","journal-title":"Endocrinology"},{"key":"10.1016\/j.mce.2003.10.056_BIB45","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1210\/jc.76.4.873","article-title":"The unique steroidogenesis of the aldosteronoma in the differential diagnosis of primary aldosteronism","volume":"76","author":"Ulick","year":"1993","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mce.2003.10.056_BIB46","doi-asserted-by":"crossref","first-page":"3587","DOI":"10.1210\/en.141.10.3587","article-title":"Transcriptional regulation of human 11\u03b2-hydroxylase (hCYP11B1)","volume":"141","author":"Wang","year":"2000","journal-title":"Endocrinology"},{"key":"10.1016\/j.mce.2003.10.056_BIB47","doi-asserted-by":"crossref","first-page":"437","DOI":"10.3109\/07435809509030459","article-title":"Haplotype analysis of CYP11B2","volume":"21","author":"White","year":"1995","journal-title":"Endocr. Res."}],"container-title":["Molecular and Cellular Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S030372070300443X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S030372070300443X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,13]],"date-time":"2021-06-13T19:12:20Z","timestamp":1623611540000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S030372070300443X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2]]},"references-count":47,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["S030372070300443X"],"URL":"https:\/\/doi.org\/10.1016\/j.mce.2003.10.056","relation":{},"ISSN":["0303-7207"],"issn-type":[{"value":"0303-7207","type":"print"}],"subject":[],"published":{"date-parts":[[2004,2]]}}}