Articles with "glucocorticoid remediable" as a keyword



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A Chinese pedigree with glucocorticoid remediable aldosteronism

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Published in 2021 at "Hypertension Research"

DOI: 10.1038/s41440-021-00685-3

Abstract: Glucocorticoid-remediable aldosteronism (GRA) is an autosomal-dominant inherited aldosteronism that is often accompanied by early-onset hypertension. GRA is caused by the unequal crossover of the 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes. As a result of… read more here.

Keywords: aldosteronism; aldosterone; gra; remediable aldosteronism ... See more keywords
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GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism

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Published in 2021 at "BMC Bioinformatics"

DOI: 10.1186/s12859-022-04561-w

Abstract: Background Glucocorticoid-remediable aldosteronism (GRA) is a form of heritable hypertension caused by a chimeric fusion resulting from unequal crossing over between 11β‐hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2), which are two genes with similar sequences. Different… read more here.

Keywords: long read; form; glucocorticoid remediable; approach ... See more keywords