{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:37:04Z","timestamp":1791286624006,"version":"4.1.0"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2010,7,13]],"date-time":"2010-07-13T00:00:00Z","timestamp":1278979200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Endocrinol Invest"],"published-print":{"date-parts":[[2011,2]]},"DOI":"10.1007\/bf03347044","type":"journal-article","created":{"date-parts":[[2014,4,10]],"date-time":"2014-04-10T22:50:59Z","timestamp":1397170259000},"page":"140-144","source":"Crossref","is-referenced-by-count":12,"title":["A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I"],"prefix":"10.1007","volume":"34","author":[{"given":"C. A.","family":"Carvajal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. B.","family":"Stehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. A.","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. M.","family":"Riquelme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Montero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. J.","family":"Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. M.","family":"Kalergis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. E.","family":"Fardella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,7,13]]},"reference":[{"key":"BF03347044_CR1","first-page":"1109","volume":"95","author":"DJ Sutherland","year":"1966","unstructured":"Sutherland DJ, Ruse JL, Laidlaw JC. Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. Can Med Assoc J 1966, 95: 1109\u201319.","journal-title":"Can Med Assoc J"},{"key":"BF03347044_CR2","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/0039-128X(94)00026-9","volume":"60","author":"R Takeda","year":"1995","unstructured":"Takeda R, Hatakeyama H, Takeda Y, et al. Aldosterone biosynthesis and action in vascular cells. Steroids 1995, 60: 120\u20134.","journal-title":"Steroids"},{"key":"BF03347044_CR3","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1161\/01.HYP.36.4.495","volume":"36","author":"Y Takeda","year":"2000","unstructured":"Takeda Y, Yoneda T, Demura M, Miyamori I, Mabuchi H. Cardiac aldosterone production in genetically hypertensive rats. Hypertension 2000, 36: 495\u2013500.","journal-title":"Hypertension"},{"key":"BF03347044_CR4","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1749-6632.2002.tb04414.x","volume":"970","author":"RV Jackson","year":"2002","unstructured":"Jackson RV, Lafferty A, Torpy DJ, Stratakis C. New genetic insights in familial hyperaldosteronism. Ann N Y Acad Sci 2002, 970: 77\u201388.","journal-title":"Ann N Y Acad Sci"},{"key":"BF03347044_CR5","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1001\/jama.1965.03090030022005","volume":"193","author":"JW Conn","year":"1965","unstructured":"Conn JW, Cohen EL, Rovner DR, Nesbit RM. Normokalemic Pri mary Aldosteronism. A Detectable Cause of Curable \u201cEssential\u201d Hypertension. JAMA 1965, 193: 200\u20136.","journal-title":"JAMA"},{"key":"BF03347044_CR6","first-page":"1863","volume":"85","author":"CE Fardella","year":"2000","unstructured":"Fardella CE, Mosso L, Gomez-Sanchez C, et al. Primary hyperaldosteronism in essential hypertensives: prevalence, biochemical profile, and molecular biology. J Clin Endocrinol Metab 2000, 85: 1863\u20137.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03347044_CR7","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1210\/endo.141.5.7529","volume":"141","author":"Y Takeda","year":"2000","unstructured":"Takeda Y, Yoneda T, Demura M, Miyamori I, Mabuchi H. Sodium-induced cardiac aldosterone synthesis causes cardiac hypertrophy. Endocrinology 2000, 141: 1901\u20134.","journal-title":"Endocrinology"},{"key":"BF03347044_CR8","doi-asserted-by":"crossref","first-page":"2694","DOI":"10.1161\/01.CIR.99.20.2694","volume":"99","author":"JS Silvestre","year":"1999","unstructured":"Silvestre JS, Heymes C, Oubenaissa A, et al. Activation of cardiac aldosterone production in rat myocardial infarction: effect of angiotensin II receptor blockade and role in cardiac fibrosis. Circulation 1999, 99: 2694\u2013701.","journal-title":"Circulation"},{"key":"BF03347044_CR9","doi-asserted-by":"crossref","first-page":"3369","DOI":"10.1210\/endo.138.8.5326","volume":"138","author":"CE Gomez-Sanchez","year":"1997","unstructured":"Gomez-Sanchez CE, Zhou MY, Cozza EN, et al. Aldosterone biosynthesis in the rat brain. Endocrinology 1997, 138: 3369\u201373.","journal-title":"Endocrinology"},{"key":"BF03347044_CR10","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1210\/mend-5-10-1513","volume":"5","author":"KM Curnow","year":"1991","unstructured":"Curnow KM, Tusie-Luna MT, Pascoe L, et al. The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex. Mol Endocrinol 1991, 5: 1513\u201322.","journal-title":"Mol Endocrinol"},{"key":"BF03347044_CR11","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/0014-5793(90)81190-Y","volume":"269","author":"T Kawamoto","year":"1990","unstructured":"Kawamoto T, Mitsuuchi Y, Toda K, et al. Cloning of cDNA and genomic DNA for human cytochrome P-45011 beta. FEBS Lett 1990, 269: 345\u20139.","journal-title":"FEBS Lett"},{"key":"BF03347044_CR12","doi-asserted-by":"crossref","first-page":"10731","DOI":"10.1016\/S0021-9258(18)99077-0","volume":"266","author":"T Ogishima","year":"1991","unstructured":"Ogishima T, Shibata H, Shimada H, et al. Aldosterone synthase cytochrome P-450 expressed in the adrenals of patients with primary aldosteronism. J Biol Chem 1991, 266: 10731\u20134.","journal-title":"J Biol Chem"},{"key":"BF03347044_CR13","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1097\/01.crd.0000096417.42861.ce","volume":"12","author":"GT McMahon","year":"2004","unstructured":"McMahon GT, Dluhy RG. Glucocorticoid-remediable aldosteronism. Cardiol Rev 2004, 12: 44\u20138.","journal-title":"Cardiol Rev"},{"key":"BF03347044_CR14","doi-asserted-by":"crossref","first-page":"2573","DOI":"10.1210\/jcem.83.7.4946","volume":"83","author":"P Mulatero","year":"1998","unstructured":"Mulatero P, Veglio F, Pilon C, et al. Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene. J Clin Endocrinol Metab 1998, 83: 2573\u20135.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03347044_CR15","doi-asserted-by":"crossref","first-page":"4805","DOI":"10.1210\/jcem.86.10.7920","volume":"86","author":"CE Fardella","year":"2001","unstructured":"Fardella CE, Pinto M, Mosso L, et al. Genetic study of patients with dexamethasone-suppressible aldosteronism without the chimeric CYP11B1\/CYP11B2 gene. J Clin Endocrinol Metab 2001, 86: 4805\u20137.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03347044_CR16","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/355262a0","volume":"355","author":"RP Lifton","year":"1992","unstructured":"Lifton RP, Dluhy RG, Powers M, et al. A chimaeric 11 beta-hydroxylase\/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 1992, 355: 262\u20135.","journal-title":"Nature"},{"key":"BF03347044_CR17","doi-asserted-by":"crossref","first-page":"8327","DOI":"10.1073\/pnas.89.17.8327","volume":"89","author":"L Pascoe","year":"1992","unstructured":"Pascoe L, Curnow KM, Slutsker L, et al. Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2. Proc Natl Acad Sci U S A 1992, 89: 8327\u201331.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"BF03347044_CR18","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1006\/bbrc.1995.1225","volume":"207","author":"JR Jonsson","year":"1995","unstructured":"Jonsson JR, Klemm SA, Tunny TJ, Stowasser M, Gordon RD. A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. Biochem Biophys Res Commun 1995, 207: 565\u201371.","journal-title":"Biochem Biophys Res Commun"},{"key":"BF03347044_CR19","doi-asserted-by":"crossref","first-page":"4328","DOI":"10.1210\/jcem.83.12.5309","volume":"83","author":"AA MacConnachie","year":"1998","unstructured":"MacConnachie AA, Kelly KF, McNamara A, et al. Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism. J Clin Endocrinol Metab 1998, 83: 4328\u201331.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03347044_CR20","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1161\/01.HYP.0000079505.25750.11","volume":"42","author":"L Mosso","year":"2003","unstructured":"Mosso L, Carvajal C, Gonzalez A, et al. Primary aldosteronism and hypertensive disease. Hypertension 2003, 42: 161\u20135.","journal-title":"Hypertension"},{"key":"BF03347044_CR21","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1038\/ki.1979.23","volume":"15","author":"C Kreft","year":"1979","unstructured":"Kreft C, Menard J, Corvol P. Vaule of renin measurement, saralasin test, and acebutolol treatment in hypertension. Kidney Int 1979, 15: 176\u201383.","journal-title":"Kidney Int"},{"key":"BF03347044_CR22","first-page":"1953","volume-title":"Hypertension: Pathophysiology, Diagnosis, and Management","author":"JE Sealey","year":"1995","unstructured":"Sealey JE, James GD, Laragh JH. Interpretation and guidelines for the use of plasma and urine aldosterone and plasma angiotensin II, angiotensinogen, prorenin, peripheral, and renal vein renin tests. In: Laragh JH, Brenner BM ed. Hypertension: Pathophysiology, Diagnosis, and Management. New York, NY: Raven Press. 1995, 1953\u201367."},{"key":"BF03347044_CR23","first-page":"1171","volume-title":"Computed Body Tomography With MRI Correlation","author":"PJ Kenney","year":"1998","unstructured":"Kenney PJ, Lee JK. The adrenals. In: Lee JKT, Sager SS, Stanley RJ, Heiken JP eds. Computed Body Tomography With MRI Correlation. Philadelphia, PA: Lippincott-Raven Press. 1998: 1171\u2013208."},{"key":"BF03347044_CR24","first-page":"307","volume":"25","author":"DG Higgins","year":"1994","unstructured":"Higgins DG. CLUSTAL V: multiple alignment of DNA and protein sequences. Methods Mol Biol 1994, 25: 307\u201318.","journal-title":"Methods Mol Biol"},{"key":"BF03347044_CR25","first-page":"4445","volume":"86","author":"M Hampf","year":"2001","unstructured":"Hampf M, Dao NT, Hoan NT, Bernhardt R. Unequal crossing-over between aldosterone synthase and 11 beta-hydroxylase genes causes congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001, 86: 4445\u201352.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03347044_CR26","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1520\/JFS2002195","volume":"49","author":"PJ Collins","year":"2004","unstructured":"Collins PJ, Hennessy LK, Leibelt CS, et al. Developmental validation of a single-tube amplification of the 13 CODIS STR loci, D2S1338, D19S433, and amelogenin: the AmpFlSTR Identifier PCR Amplification Kit. J Forensic Sci 2004, 49: 1265\u201377.","journal-title":"J Forensic Sci"},{"key":"BF03347044_CR27","doi-asserted-by":"crossref","first-page":"2320","DOI":"10.1016\/j.biocel.2004.05.006","volume":"36","author":"PJ Collins","year":"2004","unstructured":"Collins PJ, McMahon G, O\u2019Brien P, O\u2019Connor B. Purification, identification and characterisation of seprase from bovine serum. Int J Biochem Cell Biol 2004, 36: 2320\u201333.","journal-title":"Int J Biochem Cell Biol"},{"key":"BF03347044_CR28","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/ng0992-66","volume":"2","author":"RP Lifton","year":"1992","unstructured":"Lifton RP, Dluhy RG, Powers M, et al. Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. Nat Genet 1992, 2: 66\u201374.","journal-title":"Nat Genet"},{"key":"BF03347044_CR29","first-page":"321","volume":"81","author":"CE Fardella","year":"1996","unstructured":"Fardella CE, Hum DW, Rodriguez H, et al. Gene conversion in the CYP11B2 gene encoding P450c11 AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency. J Clin Endocrinol Metab 1996, 81: 321\u20136.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03347044_CR30","first-page":"4347","volume":"81","author":"CE Fardella","year":"1996","unstructured":"Fardella CE, Rodriguez H, Montero J, et al. Genetic variation in P450c11AS in Chilean patients with low renin hypertension. J Clin Endocrinol Metab 1996, 81: 4347\u201351.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF03347044_CR31","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1042\/cs0880563","volume":"88","author":"A Jamieson","year":"1995","unstructured":"Jamieson A, Slutsker L, Inglis GC, et al. Glucocorticoid-suppressible hyperaldosteronism: effects of crossover site and parental origin of chimaeric gene on phenotypic expression. Clin Sci (Lond) 1995, 88: 563\u201370.","journal-title":"Clin Sci (Lond)"},{"key":"BF03347044_CR32","doi-asserted-by":"crossref","first-page":"437","DOI":"10.3109\/07435809509030459","volume":"21","author":"PC White","year":"1995","unstructured":"White PC, Slutsker L Haplotype analysis of CYP11B2. Endocr Res 1995, 21: 437\u201342.","journal-title":"Endocr Res"},{"key":"BF03347044_CR33","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/sj.ejhg.5200967","volume":"11","author":"BM Mayosi","year":"2003","unstructured":"Mayosi BM, Keavney B, Watkins H, Farrall M. Measured haplotype analysis of the aldosterone synthase gene and heart size. Eur J Hum Genet 2003, 11: 395\u2013401.","journal-title":"Eur J Hum Genet"},{"key":"BF03347044_CR34","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1161\/01.HYP.33.2.703","volume":"33","author":"E Davies","year":"1999","unstructured":"Davies E, Holloway CD, Ingram MC, et al. Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2. Hypertension 1999, 33: 703\u20137.","journal-title":"Hypertension"},{"key":"BF03347044_CR35","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/s004390050923","volume":"104","author":"MN Papadakis","year":"1999","unstructured":"Papadakis MN, Patrinos GP. Contribution of gene conversion in the evolution of the human beta-like globin gene family. Hum Genet 1999, 104: 117\u201325.","journal-title":"Hum Genet"},{"key":"BF03347044_CR36","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1038\/ng.213","volume":"40","author":"S Myers","year":"2008","unstructured":"Myers S, Freeman C, Auton A, Donnelly P, McVean G. A common sequence motif associated with recombination hot spots and genome instability in humans. Nat Genet 2008, 40: 1124\u20139.","journal-title":"Nat Genet"},{"key":"BF03347044_CR37","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/0168-9525(86)90179-4","volume":"2","author":"P Kourilsky","year":"1986","unstructured":"Kourilsky P. Molecular mechanisms for gene conversion in higher cells. Trends Genet 1986, 2: 60\u20133.","journal-title":"Trends Genet"},{"key":"BF03347044_CR38","first-page":"237","volume":"42","author":"PH Byers","year":"1988","unstructured":"Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 1988, 42: 237\u201348.","journal-title":"Am J Hum Genet"},{"key":"BF03347044_CR39","doi-asserted-by":"crossref","first-page":"273S","DOI":"10.1042\/bst024273s","volume":"24","author":"S Bullock","year":"1996","unstructured":"Bullock S, Felix C, Iskander-Gabra S, Davison V. Detection of germinal mosaicism in a DMD family. Biochem Soc Trans 1996, 24: 273S.","journal-title":"Biochem Soc Trans"},{"key":"BF03347044_CR40","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/S0168-9525(00)89028-9","volume":"11","author":"SS Sommer","year":"1995","unstructured":"Sommer SS. Recent human germ-line mutation: inferences from patients with hemophilia B. Trends Genet 1995, 11: 141\u20137.","journal-title":"Trends Genet"},{"key":"BF03347044_CR41","doi-asserted-by":"crossref","first-page":"2181","DOI":"10.1093\/hmg\/4.11.2181","volume":"4","author":"SS Sommer","year":"1995","unstructured":"Sommer SS, Kn\u00f6ll A, Greenberg CR, Ketterling RP. Germline mosaicism in a female who seemed to be a carrier by sequence analysis. Hum Mol Genet 1995, 4: 2181\u20132.","journal-title":"Hum Mol Genet"},{"key":"BF03347044_CR42","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1055\/s-0038-1649957","volume":"74","author":"EC Thorland","year":"1995","unstructured":"Thorland EC, Weinshenker BG, Liu JZ, et al. Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects. Thromb Haemost 1995, 74: 1416\u201322.","journal-title":"Thromb Haemost"}],"container-title":["Journal of Endocrinological Investigation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF03347044.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF03347044\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF03347044","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T10:53:29Z","timestamp":1648810409000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF03347044"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,7,13]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["BF03347044"],"URL":"https:\/\/doi.org\/10.1007\/bf03347044","relation":{},"ISSN":["0391-4097","1720-8386"],"issn-type":[{"value":"0391-4097","type":"print"},{"value":"1720-8386","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,7,13]]}}}