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Items: 1 to 20 of 114

1.

A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.

Charmandari E, Sertedaki A, Kino T, Merakou C, Hoffman DA, Hatch MM, Hurt DE, Lin L, Xekouki P, Stratakis CA, Chrousos GP.

J Clin Endocrinol Metab. 2012 Aug;97(8):E1532-9. doi: 10.1210/jc.2012-1334. Epub 2012 May 24.

2.

Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion.

Sertedaki A, Markou A, Vlachakis D, Kossida S, Campanac E, Hoffman DA, Sierra ML, Xekouki P, Stratakis CA, Kaltsas G, Piaditis GP, Chrousos GP, Charmandari E.

Clin Endocrinol (Oxf). 2016 Dec;85(6):845-851. doi: 10.1111/cen.13132. Epub 2016 Jul 12.

PMID:
27293068
3.

Role of KCNJ5 in familial and sporadic primary aldosteronism.

Mulatero P, Monticone S, Rainey WE, Veglio F, Williams TA.

Nat Rev Endocrinol. 2013 Feb;9(2):104-12. doi: 10.1038/nrendo.2012.230. Epub 2012 Dec 11. Review.

PMID:
23229280
4.

A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.

Kuppusamy M, Caroccia B, Stindl J, Bandulik S, Lenzini L, Gioco F, Fishman V, Zanotti G, Gomez-Sanchez C, Bader M, Warth R, Rossi GP.

J Clin Endocrinol Metab. 2014 Sep;99(9):E1765-73. doi: 10.1210/jc.2014-1927. Epub 2014 Jul 24.

5.

K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G, Åkerström G, Wang W, Carling T, Lifton RP.

Science. 2011 Feb 11;331(6018):768-72. doi: 10.1126/science.1198785.

6.

Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.

Williams TA, Monticone S, Schack VR, Stindl J, Burrello J, Buffolo F, Annaratone L, Castellano I, Beuschlein F, Reincke M, Lucatello B, Ronconi V, Fallo F, Bernini G, Maccario M, Giacchetti G, Veglio F, Warth R, Vilsen B, Mulatero P.

Hypertension. 2014 Jan;63(1):188-95. doi: 10.1161/HYPERTENSIONAHA.113.01733. Epub 2013 Sep 30.

7.

Mutations in KCNJ5 determines presentation and likelihood of cure in primary hyperaldosteronism.

Ip JC, Pang TC, Pon CK, Zhao JT, Sywak MS, Gill AJ, Soon PS, Sidhu SB.

ANZ J Surg. 2015 Apr;85(4):279-83. doi: 10.1111/ans.12470. Epub 2013 Nov 26.

PMID:
24274318
8.

a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.

Monticone S, Hattangady NG, Penton D, Isales CM, Edwards MA, Williams TA, Sterner C, Warth R, Mulatero P, Rainey WE.

J Clin Endocrinol Metab. 2013 Nov;98(11):E1861-5. doi: 10.1210/jc.2013-2428. Epub 2013 Sep 13.

9.

Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.

Murthy M, Xu S, Massimo G, Wolley M, Gordon RD, Stowasser M, O'Shaughnessy KM.

Hypertension. 2014 Apr;63(4):783-9. doi: 10.1161/HYPERTENSIONAHA.113.02234. Epub 2014 Jan 13.

10.

New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5.

Scholl UI, Lifton RP.

Curr Opin Nephrol Hypertens. 2013 Mar;22(2):141-7. doi: 10.1097/MNH.0b013e32835cecf8. Review.

PMID:
23318698
11.

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

Scholl UI, Nelson-Williams C, Yue P, Grekin R, Wyatt RJ, Dillon MJ, Couch R, Hammer LK, Harley FL, Farhi A, Wang WH, Lifton RP.

Proc Natl Acad Sci U S A. 2012 Feb 14;109(7):2533-8. doi: 10.1073/pnas.1121407109. Epub 2012 Jan 30.

12.

A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue.

Monticone S, Bandulik S, Stindl J, Zilbermint M, Dedov I, Mulatero P, Allgaeuer M, Lee CC, Stratakis CA, Williams TA, Tiulpakov A.

J Clin Endocrinol Metab. 2015 Jan;100(1):E114-8. doi: 10.1210/jc.2014-3636.

13.

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

Xekouki P, Hatch MM, Lin L, Rodrigo de A, Azevedo M, de la Luz Sierra M, Levy I, Saloustros E, Moraitis A, Horvath A, Kebebew E, Hoffman DA, Stratakis CA.

Endocr Relat Cancer. 2012 May 3;19(3):255-60. doi: 10.1530/ERC-12-0022. Print 2012 Jun.

14.

Minireview: potassium channels and aldosterone dysregulation: is primary aldosteronism a potassium channelopathy?

Gomez-Sanchez CE, Oki K.

Endocrinology. 2014 Jan;155(1):47-55. doi: 10.1210/en.2013-1733. Epub 2013 Dec 20. Review.

15.

Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.

Oki K, Plonczynski MW, Luis Lam M, Gomez-Sanchez EP, Gomez-Sanchez CE.

Endocrinology. 2012 Apr;153(4):1774-82. doi: 10.1210/en.2011-1733. Epub 2012 Feb 7.

16.

Stress-induced Aldosterone Hyper-Secretion in a Substantial Subset of Patients With Essential Hypertension.

Markou A, Sertedaki A, Kaltsas G, Androulakis II, Marakaki C, Pappa T, Gouli A, Papanastasiou L, Fountoulakis S, Zacharoulis A, Karavidas A, Ragkou D, Charmandari E, Chrousos GP, Piaditis GP.

J Clin Endocrinol Metab. 2015 Aug;100(8):2857-64. doi: 10.1210/jc.2015-1268. Epub 2015 May 14.

PMID:
25974737
17.

KCNJ5 gene somatic mutations affect cardiac remodelling but do not preclude cure of high blood pressure and regression of left ventricular hypertrophy in primary aldosteronism.

Rossi GP, Cesari M, Letizia C, Seccia TM, Cicala MV, Zinnamosca L, Kuppusamy M, Mareso S, Sciomer S, Iacobone M, Mantero F, Pessina AC.

J Hypertens. 2014 Jul;32(7):1514-21; discussion 1522. doi: 10.1097/HJH.0000000000000186.

PMID:
24759126
18.

Potassium channels related to primary aldosteronism: Expression similarities and differences between human and rat adrenals.

Chen AX, Nishimoto K, Nanba K, Rainey WE.

Mol Cell Endocrinol. 2015 Dec 5;417:141-8. doi: 10.1016/j.mce.2015.09.011. Epub 2015 Sep 12.

19.

Microarray, qPCR, and KCNJ5 sequencing of aldosterone-producing adenomas reveal differences in genotype and phenotype between zona glomerulosa- and zona fasciculata-like tumors.

Azizan EA, Lam BY, Newhouse SJ, Zhou J, Kuc RE, Clarke J, Happerfield L, Marker A, Hoffman GJ, Brown MJ.

J Clin Endocrinol Metab. 2012 May;97(5):E819-29. doi: 10.1210/jc.2011-2965. Epub 2012 Mar 22.

PMID:
22442279
20.

Primary aldosteronism and potassium channel mutations.

Stowasser M.

Curr Opin Endocrinol Diabetes Obes. 2013 Jun;20(3):170-9. doi: 10.1097/MED.0b013e32835ef2fd. Review.

PMID:
23426162

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