Results 91 to 100 of about 5,009 (204)
HeliyonObjective: To explore the correlation between different CYP21A2 pathogenic gene mutations and clinical phenotypes in Congenital adrenal hyperplasia (CAH) patients.
Yanru Hou, Yian Li, Jiajia Ai, Li Tian
doaj +1 more source
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
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Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]
, 2010 Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
Bonfig, W., Schwarz, H. P.
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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
[From gene to disease: adrenogenital syndrome and the CYP21A2 gene]. [PDF]
Nederlands tijdschrift voor geneeskunde, 2007 Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In more than 90% of cases CAH is caused by CYP21 (21-hydroxylase) deficiency leading to impaired cortisol and aldosterone synthesis and an increase in ACTH secretion. This then leads to stimulation of the adrenal gland and overproduction of androgens with virilisation of ...
Claahsen-van der Grinten, H.L. +1 more
openaire +2 more sources
Estudo de variações de sequência do promotor do gene CYP21A2 em pacientes com suspeita de hiperplasia supra-renal congénita [PDF]
, 2015 Mestrado em Bioquímica - Métodos BiomolecularesA Hiperplasia Supra-Renal Congénita (HSRC), causada por deficiência na enzima 21-hidroxilase, constitui uma das doenças autossómicas recessivas mais frequentes.
Santos, Ana Patrícia Teixeira dos
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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
Hiperplasia Congénita da Suprarrenal por Deficiência de 21-Hidroxílase: Correlação Genótipo-Fenótipo
Acta Médica Portuguesa, 2015 Introdução: A hiperplasia congénita da suprarrenal por deficiência de 21-hidroxílase constitui uma das doenças hereditárias mais comuns. Resulta de diferentes mutações no gene CYP21A2 e, na maioria dos casos, a gravidade da doença correlaciona-se com a ...
Catarina Mendes +5 more
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 +2 more
wiley +1 more source
О различиях в частотах аллелей полиморфизма -153 С/Т ММР-7 среди женщин с преэклампсией и контрольной группой [PDF]
, 2015 Изучение полиморфизма матриксной металлопротеиназы-7 (-153 C/T MMP-7) у женщин с преэклампсией и в контрольной ...
Должиков, А. А. +2 more
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