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Chapter
Adrenal Anion Channels: New Roles in Zona Glomerulosa Physiology and in the Pathophysiology of Primary Aldosteronism
The mineralocorticoid aldosterone is produced in the zona glomerulosa of the adrenal cortex. Its synthesis is regulated by the serum concentrations of the peptide hormone angiotensin II and potassium. The prim...
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Article
Open AccessGeneration of sheep with defined FecBB and TBXT mutations and porcine blastocysts with KCNJ5G151R/+ mutation using prime editing
Rewriting the genomes of living organisms has been a long-standing aim in the biological sciences. The revelation of the CRISPR/Cas9 technology has revolutionized the entire biological field. Since its emergen...
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Chapter
CaV3.2 (CACNA1H) in Primary Aldosteronism
Aldosterone is a steroid hormone produced in the zona glomerulosa (ZG) of the adrenal cortex. The most prominent function of aldosterone is the control of electrolyte homeostasis and blood pressure via the kid...
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Article
Kidney physiology and susceptibility to acute kidney injury: implications for renoprotection
Kidney damage varies according to the primary insult. Different aetiologies of acute kidney injury (AKI), including kidney ischaemia, exposure to nephrotoxins, dehydration or sepsis, are associated with charac...
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Article
Open AccessSubcellular localization of fibroblast growth factor receptor type 2 and correlation with CTNNB1 genotype in adrenocortical carcinoma
Fibroblast growth factor receptor (FGFR) 2 regulates the development of the adrenal gland in mice. In addition, FGFR2-mediated signalling has been shown to prevent apoptosis and to enhance proliferation in adr...
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Article
Open AccessGenetic causes of primary aldosteronism
Primary aldosteronism is characterized by at least partially autonomous production of the adrenal steroid hormone aldosterone and is the most common cause of secondary hypertension. The most frequent subforms ...
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Article
Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels
The application of advanced genetic techniques has recently begun to unravel the genetic basis for familial primary aldosteronism type 2 (FH-II).
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Article
CLCN2 chloride channel mutations in familial hyperaldosteronism type II
Primary aldosteronism, a common cause of severe hypertension 1 , features constitutive production of the adrenal steroid aldosterone. We analyzed a multiplex family with familial...
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Article
Open AccessA novel FOXO1-mediated dedifferentiation blocking role for DKK3 in adrenocortical carcinogenesis
Dysregulated WNT signaling dominates adrenocortical malignancies. This study investigates whether silencing of the WNT negative regulator DKK3 (Dickkopf-related protein 3), an implicated adrenocortical differe...
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Article
Corrigendum: Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors
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Article
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors
Richard Lifton and colleagues identify a recurrent activating mutation in PRKACA, which encodes the catalytic subunit of protein kinase A, in cortisol-producing adrenal tumors. They further show that the mutation...
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Article
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
Richard Lifton and colleagues identify somatic and germline mutations in the CACNA1D calcium channel gene in aldosterone-producing adenomas and primary aldosteronism. Their functional studies show that these muta...
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Article
SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule
Mutations in the K+ channel KCNJ10 (Kir4.1) cause an autosomal recessive syndrome featuring seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME). Kir4.1 localizes to th...
