Conn syndrome, hyperaldosteronism caused by adenomas, is often due to somatic mutation of adrenal cells.
Two types can be distinguished: (1) subcapsular aldosterone-producing cell clusters (APCC) which present macroscopically as normal adrenal glands and (2) aldosterone-producing adenomas (APA). Different genes are mutated in these two forms.
1. |
Scholl UI et al. (2013) Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. |
2. |
Kokunai Y et al. (2014) A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. |
3. |
Murthy M et al. (2014) 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. |
4. |
Charmandari E et al. (2012) A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension. |
5. |
Scholl UI et al. (2012) Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. |
6. |
Azizan EA et al. (2013) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. |
7. |
Baig SM et al. (2011) Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. |
8. |
Liu X et al. (2010) Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin. |
9. |
Pennartz CM et al. (2002) Diurnal modulation of pacemaker potentials and calcium current in the mammalian circadian clock. |
10. |
Platzer J et al. (2000) Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels. |
11. |
Jinnah HA et al. (1999) Calcium channel activation and self-biting in mice. |
12. |
Mori Y et al. (1991) Primary structure and functional expression from complementary DNA of a brain calcium channel. |
13. |
Chin HM et al. (1991) A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3. |
14. |
Tsien RW et al. (1991) Molecular diversity of voltage-dependent Ca2+ channels. |
15. |
Seino S et al. (1992) Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3. |
16. |
Seino S et al. (1992) Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells. |
17. |
Williams ME et al. (1992) Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype. |
18. |
Davare MA et al. (2001) A beta2 adrenergic receptor signaling complex assembled with the Ca2+ channel Cav1.2. |
19. |
OMIM.ORG article Omim 600734 |
20. |
Wikipedia article Wikipedia EN (Primary_aldosteronism) |