Results 61 to 70 of about 2,980 (198)
MedComm, Volume 6, Issue 8, August 2025.This study detected 1498 metabolites using untargeted metabolomics in discovery and validation sets. Multivariate analysis revealed differences between healthy controls, AMI, and UA groups, identifying AMI‐specific metabolites. Enrichment analysis explored their biological significance. Machine learning techniques like random forest and neural networks
Jun Liu +4 more
wiley +1 more source
Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene. [PDF]
PLoS ONE, 2013 The human steroid 21-hydroxylase gene (CYP21A2) participates in cortisol and aldosterone biosynthesis, and resides together with its paralogous (duplicated) pseudogene in a multiallelic copy number variation (CNV), called RCCX CNV.
Julianna Anna Szabó +8 more
doaj +1 more source
Genotype-phenotype correlation in patients with 21-hydroxylase deficiency
Frontiers in Endocrinology, 2023 Introduction21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations ...
Peng Tang +13 more
doaj +1 more source
Statistical analysis of the results of detection of frequent mutations in the CYP21A2 gene [PDF]
, 2023 Ekaterina A. Vetchinkina +2 more
openalex +1 more source
Unravelling Osteoporosis: Key Genes and Potential Therapies
Journal of Cellular and Molecular Medicine, Volume 29, Issue 15, August 2025.ABSTRACT Osteoporosis is a metabolic bone disease characterised by decreased bone mass and increased fracture risk, especially in aging women. Current treatments have limitations and side effects, prompting the need for novel therapeutic targets. Using Mendelian randomisation (MR) on the basis of GWAS data from the FinnGen consortium, we identified ...
Huichao Fu +9 more
wiley +1 more source
Genomic technologies and the diagnosis of 46, XY differences of sex development
Andrology, Volume 13, Issue 5, Page 1025-1043, July 2025.Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris +2 more
wiley +1 more source
The gut‐microbiota‐brain axis: Focus on gut steroids
Journal of Neuroendocrinology, Volume 37, Issue 7, July 2025.Abstract There are over 1000 varieties of steroids that have been reported in nature, including the endogenous sex steroid hormones (i.e., progesterone, testosterone, and 17β‐estradiol) and corticosteroids which are mainly synthesized by gonads and adrenals, respectively.
Silvia Diviccaro +4 more
wiley +1 more source
Synthesis of halogenated pregnanes, mechanistic probes of steroid hydroxylases CYP17A1 and CYP21A2 [PDF]
The Journal of Steroid Biochemistry and Molecular Biology, 2012 The human steroidogenic cytochromes P450 CYP17A1 (P450c17, 17α-hydroxylase/17,20-lyase) and CYP21A2 (P450c21, 21-hydroxylase) are required for the biosynthesis of androgens, glucocorticoids, and mineralocorticoids. Both enzymes hydroxylate progesterone at adjacent, distal carbon atoms and show limited tolerance for substrate modification.
Francis K, Yoshimoto +2 more
openaire +2 more sources
Single‐Cell Atlas Reveals Tumorigenic Profiles and Immune Dynamics of Adrenal Incidentalomas
Advanced Science, Volume 12, Issue 22, June 12, 2025.Single‐cell RNA sequencing reveals cellular heterogeneity in adrenal incidentalomas, identifying distinct tumor cell populations. Clusterin is recognized as a biomarker for adrenocortical tumors, correlating with established markers. MYCN‐positive clusters in pheochromocytomas indicated poorer survival.
Meng Wang +18 more
wiley +1 more source
Diagnosis of mutations in the CYP21A2 gene
Endocrine Surgery.
E. S. Podshivalova +3 more
openaire +1 more source