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Items: 1 to 20 of 159

1.

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.

2.

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.

3.

Effect of KCNJ5 mutations on gene expression in aldosterone-producing adenomas and adrenocortical cells.

Monticone S, Hattangady NG, Nishimoto K, Mantero F, Rubin B, Cicala MV, Pezzani R, Auchus RJ, Ghayee HK, Shibata H, Kurihara I, Williams TA, Giri JG, Bollag RJ, Edwards MA, Isales CM, Rainey WE.

J Clin Endocrinol Metab. 2012 Aug;97(8):E1567-72. doi: 10.1210/jc.2011-3132. Epub 2012 May 24.

4.

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.

5.

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.

6.

6C.03: A CASE OF SEVERE HYPERALDOSTERONISM CAUSED BY A DE NOVO KCNJ5 MUTATION.

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

J Hypertens. 2015 Jun;33 Suppl 1:e79-80. doi: 10.1097/01.hjh.0000467567.26208.53.

PMID:
26102935
7.

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.

8.

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
9.

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
10.

Novel KCNJ5 mutations in sporadic aldosterone-producing adenoma reduce Kir3.4 membrane abundance.

Cheng CJ, Sung CC, Wu ST, Lin YC, Sytwu HK, Huang CL, Lin SH.

J Clin Endocrinol Metab. 2015 Jan;100(1):E155-63. doi: 10.1210/jc.2014-3009.

PMID:
25347571
11.

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
12.

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.

13.

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
14.

SY 03-3 OVERVIEW OF SOMATIC MUTATIONS AND EPIGENETIC REGULATION OF ALDOSTERONE PRODUCING ADENOMA (APA).

Umemura S.

J Hypertens. 2016 Sep;34 Suppl 1 - ISH 2016 Abstract Book:e14-e15.

PMID:
27753830
15.

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
16.

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.

17.

Immunohistochemical, genetic and clinical characterization of sporadic aldosterone-producing adenomas.

Monticone S, Castellano I, Versace K, Lucatello B, Veglio F, Gomez-Sanchez CE, Williams TA, Mulatero P.

Mol Cell Endocrinol. 2015 Aug 15;411:146-54. doi: 10.1016/j.mce.2015.04.022. Epub 2015 May 6.

18.

Voltage-gated calcium channels in the human adrenal and primary aldosteronism.

Felizola SJ, Maekawa T, Nakamura Y, Satoh F, Ono Y, Kikuchi K, Aritomi S, Ikeda K, Yoshimura M, Tojo K, Sasano H.

J Steroid Biochem Mol Biol. 2014 Oct;144 Pt B:410-6. doi: 10.1016/j.jsbmb.2014.08.012. Epub 2014 Aug 23.

PMID:
25151951
19.

Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature.

Adachi M, Muroya K, Asakura Y, Sugiyama K, Homma K, Hasegawa T.

Horm Res Paediatr. 2014;82(2):138-42. doi: 10.1159/000358197. Epub 2014 May 10. Review.

PMID:
24819081
20.

Somatic mutations affecting the selectivity filter of KCNJ5 are frequent in 2 large unselected collections of adrenal aldosteronomas.

Azizan EA, Murthy M, Stowasser M, Gordon R, Kowalski B, Xu S, Brown MJ, O'Shaughnessy KM.

Hypertension. 2012 Mar;59(3):587-91. doi: 10.1161/HYPERTENSIONAHA.111.186239. Epub 2012 Jan 17.

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