Primary aldosteronism: molecular medicine meets public health
EAB Azizan, WM Drake, MJ Brown - Nature Reviews Nephrology, 2023 - nature.com
Primary aldosteronism is the most common single cause of hypertension and is potentially
curable when only one adrenal gland is the culprit. The importance of primary aldosteronism …
curable when only one adrenal gland is the culprit. The importance of primary aldosteronism …
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis
Genomic variants affecting pre-messenger RNA splicing and its regulation are known to
underlie many rare genetic diseases. However, common workflows for genetic diagnosis …
underlie many rare genetic diseases. However, common workflows for genetic diagnosis …
[HTML][HTML] Single-cell and spatial transcriptomics analysis of human adrenal aging
N Iwahashi, H Umakoshi, M Fujita, T Fukumoto… - Molecular …, 2024 - Elsevier
Objective The human adrenal cortex comprises three functionally and structurally distinct
layers that produce layer-specific steroid hormones. With aging, the human adrenal cortex …
layers that produce layer-specific steroid hormones. With aging, the human adrenal cortex …
[HTML][HTML] Cellular landscape of adrenocortical carcinoma at single-nuclei resolution
Adrenocortical carcinoma (ACC) is a rare yet devastating tumour of the adrenal gland with a
molecular pathology that remains incompletely understood. To gain novel insights into the …
molecular pathology that remains incompletely understood. To gain novel insights into the …
[HTML][HTML] Non-canonical Wnt signaling triggered by WNT2B drives adrenal aldosterone production
KS Borges, DW Little III, T de Almeida Magalhães… - bioRxiv, 2024 - ncbi.nlm.nih.gov
The steroid hormone aldosterone, produced by the zona glomerulosa (zG) of the adrenal
gland, is a master regulator of plasma electrolytes and blood pressure. While aldosterone …
gland, is a master regulator of plasma electrolytes and blood pressure. While aldosterone …
Letter to the Editor from Janot et al:«Single-exon deletions of ZNRF3 exon 2 cause congenital adrenal hypoplasia»
C Janot, A Bachelot, D Mallet, D Simon… - The Journal of …, 2024 - academic.oup.com
We read with great interest the article by Amano et al, which addresses single-exon 2
deletions of ZNRF3 as a novel contributor to adrenal hypoplasia (1). The advent of …
deletions of ZNRF3 as a novel contributor to adrenal hypoplasia (1). The advent of …