Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.

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Term Occurence Count Dictionary
cortisol 6 endocrinologydiseasesdrugs
hyperaldosteronism 11 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
cortisol 5364 fasciculata (ZF) that encodes 11β-hydroxylase that catalyses the final step in the conversion of 11-deoxy cortisol to cortisol (Figure 1). Angiotensin II and potassium regulate aldosterone production via Ca2+ signalling
cortisol 5376 that encodes 11β-hydroxylase that catalyses the final step in the conversion of 11-deoxycortisol to cortisol (Figure 1). Angiotensin II and potassium regulate aldosterone production via Ca2+ signalling which also
cortisol 17048 to those APA with a ZG phenotype [[47]]. If CYP17A1 and CYP11B2 are expressed in the same cell then cortisol can be metabolized further to produce the hybrid steroids 18-hydroxycortisol and 18-oxocortisol [[55]].
cortisol 17125 in the same cell then cortisol can be metabolized further to produce the hybrid steroids 18-hydroxy cortisol and 18-oxocortisol [[55]]. Higher levels of these hybrid steroids are associated with FH type I and
cortisol 17144 then cortisol can be metabolized further to produce the hybrid steroids 18-hydroxycortisol and 18-oxo cortisol [[55]]. Higher levels of these hybrid steroids are associated with FH type I and FH type III (although
cortisol 29989 adrenal cortex. Aldosterone is synthesized in the zona glomerulosa (ZG) distinct from the synthesis of cortisol in the zona fasciculata (ZF). Aldosterone synthase encoded by CYP11B2 performs all three enzymatic steps
Select Disease Character Offset Disease Term Instance
hyperaldosteronism 1362 with hypertension. The genetic basis of the four familial forms of primary aldosteronism (familial hyperaldosteronism FH types I–IV) and the majority of sporadic unilateral aldosterone-producing adenomas has now been
hyperaldosteronism 1510 majority of sporadic unilateral aldosterone-producing adenomas has now been resolved. Familial forms of hyperaldosteronism are, however, rare. The sporadic forms of the disease prevail and these are usually caused by either
hyperaldosteronism 3991 the field of PA research over the last few years. We describe the genetic basis of familial forms of hyperaldosteronism and the identification of somatic mutations that lead to excess aldosterone production. Differential
hyperaldosteronism 5703 transporters.3. Familial Forms of HyperaldosteronismThere are currently 4 recognised forms of familial hyperaldosteronism (FH types I–IV) and the genetic basis of each type is summarized in Table 1.3.1. Familial Hyperaldosteronism
hyperaldosteronism 5848 genetic basis of each type is summarized in Table 1.3.1. Familial Hyperaldosteronism Type IFamilial hyperaldosteronism type I (FH type I or GRA, glucocorticoid remediable aldosteronism) is caused by a hybrid CYP11B1/CYP11B2
hyperaldosteronism 6613 ZG under the control of angiotensin II [[13],[14]].3.2. Familial Hyperaldosteronism Type IIFamilial hyperaldosteronism type II (FH type II) was first described by Stowasser et al. [[15]] in a kindred with an autosomal dominant
hyperaldosteronism 8781 production.3.3. Familial Hyperaldosteronism Type IIIChoi et al. identified the genetic basis of familial hyperaldosteronism type III (FH type III) in 2011 by next-generation sequencing [[6]]. A gain-of-function mutation in the
hyperaldosteronism 10297 GlyTyrGly motif implicated in K+ selectivity [[21]].3.4. Familial Hyperaldosteronism Type IVFamilial hyperaldosteronism type IV (FH type IV) is caused by gain-of-function mutations in Cav3.2, a T type Ca2+ channel encoded
hyperaldosteronism 10532 type IV was first identified in 2015 by exome sequencing of 40 unrelated subjects with early-onset hyperaldosteronism and hypertension (<10 years of age) [[22]]. Scholl et al. identified five subjects with the same heterozygous
hyperaldosteronism 29163 few years mainly due to the application of next-generation sequencing methods. Four familial forms of hyperaldosteronism are now recognized with the genetic basis of three of these uncovered by exome sequencing. Somatic mutations
hyperaldosteronism 30883 Gomez-Sanchez, University of Mississippi, Oxford, MS, USA.ijms-19-01124-t001_Table 1Table 1Familial forms of hyperaldosteronism .Subtype of Primary AldosteronismGenetic VariantEncoded ProteinBrief DescriptionFH Type ICYP11B1/CYP11B2

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