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Items: 1 to 20 of 127

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.

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
3.

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.

4.

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.

5.

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.

6.

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
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.

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.

9.

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.

10.

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.

11.

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.

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.

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.

PMID:
24248457
14.

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.

15.

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
16.

Outcome after surgery for primary hyperaldosteronism may depend on KCNJ5 tumor mutation status: a population-based study from Western Norway.

Arnesen T, Glomnes N, Strømsøy S, Knappskog S, Heie A, Akslen LA, Grytaas M, Varhaug JE, Gimm O, Brauckhoff M.

Langenbecks Arch Surg. 2013 Aug;398(6):869-74. doi: 10.1007/s00423-013-1093-2. Epub 2013 Jun 19.

PMID:
23778974
17.

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
18.

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
19.

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
20.

KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.

Mulatero P, Tauber P, Zennaro MC, Monticone S, Lang K, Beuschlein F, Fischer E, Tizzani D, Pallauf A, Viola A, Amar L, Williams TA, Strom TM, Graf E, Bandulik S, Penton D, Plouin PF, Warth R, Allolio B, Jeunemaitre X, Veglio F, Reincke M.

Hypertension. 2012 Feb;59(2):235-40. doi: 10.1161/HYPERTENSIONAHA.111.183996. Epub 2011 Dec 27.

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