Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 93

1.

Genetics of adrenocortical disease: an update.

Bar-Lev A, Annes JP.

Curr Opin Endocrinol Diabetes Obes. 2012 Jun;19(3):159-67. doi: 10.1097/MED.0b013e328352f013. Review.

PMID:
22476103
2.

Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.

Lavery GG, Idkowiak J, Sherlock M, Bujalska I, Ride JP, Saqib K, Hartmann MF, Hughes B, Wudy SA, De Schepper J, Arlt W, Krone N, Shackleton CH, Walker EA, Stewart PM.

Eur J Endocrinol. 2013 Feb 1;168(2):K19-26. doi: 10.1530/EJE-12-0628. Print 2013 Feb.

3.

Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.

Lawson AJ, Walker EA, Lavery GG, Bujalska IJ, Hughes B, Arlt W, Stewart PM, Ride JP.

Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4111-6. doi: 10.1073/pnas.1014934108. Epub 2011 Feb 15.

4.

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
5.

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.

6.

Novel genes in primary aldosteronism.

Fischer E, Beuschlein F.

Curr Opin Endocrinol Diabetes Obes. 2014 Jun;21(3):154-8. doi: 10.1097/MED.0000000000000060. Review.

PMID:
24739312
7.

An update on novel mechanisms of primary aldosteronism.

Zennaro MC, Boulkroun S, Fernandes-Rosa F.

J Endocrinol. 2015 Feb;224(2):R63-77. doi: 10.1530/JOE-14-0597. Epub 2014 Nov 25. Review.

9.

Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.

Malikova J, Flück CE.

Horm Res Paediatr. 2014;82(3):145-57. doi: 10.1159/000363107. Epub 2014 Aug 1. Review.

PMID:
25096886
10.

Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma.

Zheng FF, Zhu LM, Nie AF, Li XY, Lin JR, Zhang K, Chen J, Zhou WL, Shen ZJ, Zhu YC, Wang JG, Zhu DL, Gao PJ.

Hypertension. 2015 Mar;65(3):622-8. doi: 10.1161/HYPERTENSIONAHA.114.03346. Epub 2015 Jan 26.

11.

Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.

Fernandes-Rosa FL, Williams TA, Riester A, Steichen O, Beuschlein F, Boulkroun S, Strom TM, Monticone S, Amar L, Meatchi T, Mantero F, Cicala MV, Quinkler M, Fallo F, Allolio B, Bernini G, Maccario M, Giacchetti G, Jeunemaitre X, Mulatero P, Reincke M, Zennaro MC.

Hypertension. 2014 Aug;64(2):354-61. doi: 10.1161/HYPERTENSIONAHA.114.03419. Epub 2014 May 27.

12.

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.

13.

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.

14.

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.

15.

Lack of influence of somatic mutations on steroid gradients during adrenal vein sampling in aldosterone-producing adenoma patients.

Oßwald A, Fischer E, Degenhart C, Quinkler M, Bidlingmaier M, Pallauf A, Lang K, Mussack T, Hallfeldt K, Beuschlein F, Reincke M.

Eur J Endocrinol. 2013 Oct 1;169(5):657-63. doi: 10.1530/EJE-13-0551. Print 2013 Nov.

16.

Primary pigmented nodular adrenocortical disease and Cushing's syndrome.

Horvath A, Stratakis C.

Arq Bras Endocrinol Metabol. 2007 Nov;51(8):1238-44. Review.

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.

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
19.

[Primary aldosteronism: new insights into familial forms].

van den Meiracker AH, van der Linde AA, Claahsen van der Grinten HL, Danser AH, Deinum J.

Ned Tijdschr Geneeskd. 2015;159:A8932. Review. Dutch.

PMID:
26420144
20.

Genetics of mineralocorticoid excess: an update for clinicians.

Zennaro MC, Rickard AJ, Boulkroun S.

Eur J Endocrinol. 2013 Jun 1;169(1):R15-25. doi: 10.1530/EJE-12-0813. Print 2013 Jul. Review.

Supplemental Content

Support Center