Results 81 to 90 of about 4,947 (206)

Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort [PDF]

, 2013
Context: In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a strong genotype-phenotype correlation exists in childhood. However, similar data in adults are lacking.Objective: The objective of the study was to test whether the ...
, Arlt, Wiebke, Carroll, Paul V., Conway, Gerry S., Doherty, Emma J., Hahner, Stefanie, Han, Thang S., Hodson, James, Krone, Nils, MacDonald, Fiona, Parajes, Silvia, Rose, Ian T., Ross, Richard J., Stimson, Roland H., Walker, Brian R., Wild, Sarah H., Willis, Debbie S.   +16 more
core   +2 more sources

Comprehensive Plasma Metabolome for Identification of Novel Biomarkers of Acute Myocardial Infarction

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, Yi Yu, Qiqi Lu, Shan‐Qiang Zhang, Ji‐Cheng Li   +4 more
wiley   +1 more source

Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency : a Swedish population-based national cohort study [PDF]

, 2017
CONTEXT: Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the risk of cardiovascular and metabolic morbidity.
Almqvist, Catarina, Falhammar, Henrik, Frisén, Louise, Hirschberg, Angelica L., Nordenskjöld, Agneta, Nordenström, Anna, Norrby, Christina   +6 more
core   +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, Melissa C, Desilets, Richard J, Auchus   +2 more
openaire   +2 more sources

The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China

Clinical, Cosmetic and Investigational Dermatology, 2021
Ting Yang,1,2 Wen-Juan Wu,1 Li-Ming Tian,3 Deng-Feng Zhang,4 Xiao-Yan Yang,1 Jue Qi,1 Ying Tu,1 Li He1 1Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, 650023, People’s Republic of China ...
Yang T, Wu WJ, Tian LM, Zhang DF, Yang XY, Qi J, Tu Y, He L   +7 more
doaj  

Diagnosis of mutations in the CYP21A2 gene

Endocrine Surgery
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E. S. Podshivalova, E. A. Vetchinkina, T. V. Pogoda, M. V. Utkina   +3 more
openaire   +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, Yunjiao Wu, Hongfei Lv, Li‐an Qiu, Weifeng Hu, Hongyun Wu, Junda Qian, Xiongjie Liang, Xiaoyan Wang, Gongping Xu   +9 more
wiley   +1 more source

Rooibos Flavonoids Inhibit the Activity of Key Adrenal Steroidogenic Enzymes, Modulating Steroid Hormone Levels in H295R Cells

Molecules, 2014
Major rooibos flavonoids—dihydrochalcones, aspalathin and nothofagin, flavones—orientin and vitexin, and a flavonol, rutin, were investigated to determine their influence on the activity of adrenal steroidogenic enzymes, 3β-hydroxysteroid dehydrogenase ...
Lindie Schloms, Amanda C. Swart
doaj   +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, Andrew H. Sinclair, Katie L. Ayers   +2 more
wiley   +1 more source

Congenital adrenal hyperplasia: Diagnostic advances [PDF]

, 2018
Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex.
Biason-Lauber, Anna, Torresani, T.
core   +1 more source