Apparent mineralocorticoid excess by a novel mutation and epigenetic modulation by HSD11B2 promoter methylation

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 9, 2015, Pages E1234-E1241

  Pizzolo, Francesca ^a   Friso, Simonetta ^a   Morandini, Francesca ^a   Antoniazzi, Franco ^b   Zaltron, Chiara ^a   Udali, Silvia ^a   Gandini, Alberto ^b   Cavarzere, Paolo ^b   Salvagno, Gianluca ^b   Giorgetti, Alejandro ^b   Speziali, Giulia ^b   Choi, Sang Woon ^c,d   Olivieri, Oliviero ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c CHA University   (South Korea)

^d TUFTS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE 2; ALLOTETRAHYDROCORTISOL; AMLODIPINE; EPLERENONE; HYDROCORTISONE DERIVATIVE; POTASSIUM CHLORIDE; RENIN; SPIRONOLACTONE; TETRAHYDROCORTISOL; TETRAHYDROCORTISONE; UNCLASSIFIED DRUG; HSD11B2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; APPARENT MINERALOCORTICOID EXCESS SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DNA METHYLATION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ECHOCARDIOGRAPHY; EPIGENETICS; EXON; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GYNECOMASTIA; HEART LEFT VENTRICLE HYPERTROPHY; HORMONE DETERMINATION; HSD11B2 GENE; HUMAN; HYPERTENSION; HYPOKALEMIA; LABORATORY TEST; MALE; MASS FRAGMENTOGRAPHY; MIDDLE AGED; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PYROSEQUENCING; SCHOOL CHILD; SEQUENCE ANALYSIS; URINE LEVEL; VERY ELDERLY; CASE REPORT; GENETIC EPIGENESIS; GENETICS; GENOTYPE; MUTATION; PEDIGREE;

11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2; ADOLESCENT; AGED; AGED, 80 AND OVER; CHILD; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MINERALOCORTICOID EXCESS SYNDROME, APPARENT; MUTATION; PEDIGREE; PHENOTYPE; PROMOTER REGIONS, GENETIC;

EID: 84941648631     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-1760     Document Type: Article

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