KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: An infrequent genetic cause of Conn's syndrome

Endocrine-Related Cancer

Volumn 19, Issue 3, 2012, Pages 255-260

  Xekouki, Paraskevi ^a   Hatch, Michael M ^a   Lin, Lin ^a   Rodrigo, De Alexandre ^a   Azevedo, Monalisa ^a   De La Luz Sierra, Maria ^a   Levy, Isaac ^a   Saloustros, Emmanouil ^a   Moraitis, Andreas ^a   Horvath, Anelia ^a   Kebebew, E ^c   Hoffman, Dax A ^a   Stratakis, Constantine A ^a,b  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b CRC   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL; PROTEIN KCNJ5; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CODON; CONTROLLED STUDY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GERM LINE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NATIONAL HEALTH ORGANIZATION; PRIMARY HYPERALDOSTERONISM; PROTEIN EXPRESSION; TRANSIENT TRANSFECTION; ZONA GLOMERULOSA;

ADENOMA; COHORT STUDIES; DNA, NEOPLASM; FEMALE; G PROTEIN-COUPLED INWARDLY-RECTIFYING POTASSIUM CHANNELS; HEK293 CELLS; HUMANS; HYPERALDOSTERONISM; MALE; MUTATION; NATIONAL INSTITUTES OF HEALTH (U.S.); UNITED STATES;

EID: 84862640301     PISSN: 13510088     EISSN: 14796821     Source Type: Journal    
DOI: 10.1530/ERC-12-0022     Document Type: Article

References (11)

1. Calloe K, Ravn LS, Schmitt N, Sui JL, Duno M, Haunso S, Grunnet M, Svendsen JH & Olesen SP 2007 Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit. Biochemical and Biophysical Research Communications 364 889-895. (doi:10.1016/j.bbrc.2007. 10.106)
2. + channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science 331 768-772. (doi:10.1126/science.1198785)
3. Dibb KM, Rose T, Makary SY, Claydon TW, Enkvetchakul D, Leach R, Nichols CG & Boyett MR 2003 Molecular basis of ion selectivity, block, and rectification of the inward rectifier Kir3.1/Kir3.4 K(+) channel. Journal of Biological Chemistry 278 49537-49548. (doi:10.1074/jbc.M307723200)
4. Douma S, Petidis K, Doumas M, Papaefthimiou P, Triantafyllou A, Kartali N, Papadopoulos N, Vogiatzis K & Zamboulis C 2008 Prevalence of primary hyperaldosteronism in resistant hypertension: a retrospective observational study. Lancet 371 1921-1926. (doi:10.1016/S0140-6736(08)60834-X)
5. Funder JW, Carey RM, Fardella C, Gomez-Sanchez CE, Mantero F, Stowasser M, Young WF Jr, Montori VM &Endocrine Society 2008 Case detection, diagnosis, and treatment of patients with primary aldosteronism: an endocrine society clinical practice guideline. Journal of Clinical Endocrinology and Metabolism 93 3266-3281. (doi:10.1210/jc.2008-0104)
6. Ishihara K, Yamamoto T & Kubo Y 2009 Heteromeric assembly of inward rectifier channel Kir2.1 with Kir3.4. Biochemical and Biophysical Research Communications 380 832-837. (doi:10.1016/j.bbrc.2009.01.179)
7. Mulatero P, Stowasser M, Loh KC, Fardella CE, Gordon RD, Mosso L, Gomez-Sanchez CE, Veglio F & Young WF Jr 2004 Increased diagnosis of primary aldosteronism, including surgically correctable forms, in centers from five continents. Journal of Clinical Endocrinology and Metabolism 89 1045-1050. (doi:10.1210/jc.2003-031337)
8. Schirpenbach C & Reincke M 2007 Primary aldosteronism: current knowledge and controversies in Conn's syndrome. Nature Clinical Practice. Endocrinology & Metabolism 3 220-227. (doi:10.1038/ncpendmet0430)
9. Sidhu S, Marsh DJ, Theodosopoulos G, Phillips J, Bambach CP, Campell P, Magarey CJ, Russel CF, Schulte KM, Roher HD et al. 2002 Comparative genomic hybridization analysis of adrenocortical tumors. Journal of Clinical Endocrinology and Metabolism 87 3467-3474. (doi:10.1210/jc.87.7.3467)
10. Yang Y, Yang Y, Liang B, Liu J, Li J, Grunnet M, Olesen SP, Rasmussen HB, Ellinor PT, Gao L et al. 2010 Identification of a Kir3.4 mutation in congenital long QT syndrome. American Journal of Human Genetics 86 872-880. (doi:10.1016/j.ajhg.2010.04.017)
11. Zennaro MC & Jeunemaitre X 2011 Mutations in KCNJ5 gene cause hyperaldosteronism. Circulation Research 108 1417-1418. (doi:10.1161/RES. 0b013e318224a359)