Results 71 to 80 of about 2,980 (198)

Effects of Oxidative Stress Gene Protein, Expression, and DNA Methylation on Multiple Sclerosis: A Multi‐Omics Mendelian Randomized Study

Brain and Behavior, Volume 15, Issue 6, June 2025.
Mendelian randomization (MR) and colocalization analysis were used to study the relationship between oxidative stress genes and multiple sclerosis by integrating multiple omics, and finally, two significant genes related to STAT3 and CR1 were obtained.
Yang Li, Yushi Wang, Shuning Wang, Hui Zhu   +3 more
wiley   +1 more source

Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening [PDF]

Arquivos Brasileiros de Endocrinologia & Metabologia, 2008
Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm infants have high levels of 17-OHP resulting in false positive cases.
Soardi, Fernanda Caroline, Lemos-Marini, Sofia Helena V., Coeli, Fernanda Borchers, Maturana, Víctor Gonçalves, Silva, Márcia Duarte Barbosa da, Bernardi, Renan Darin, Justo, Giselle Zenker, de-Mello, Maricilda Palandi   +7 more
openaire   +4 more sources

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

Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation

Heliyon
Objective: 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

Adrenal Insufficiency Associated Cardiomyopathy, From Molecule to Clinic: A Comprehensive Review

Health Science Reports, Volume 8, Issue 5, May 2025.
ABSTRACT Background and Aim Adrenal insufficiency (AI), the lack of glucocorticoids (GCs) production or function with or without a lack of mineralocorticoids (MCs) and adrenal androgens, can result in uncommon but life‐threatening complications like shock, circulatory failure, syncope, arrhythmias, dilated cardiomyopathy (DCM), and congestive heart ...
Narges Bazgir, Afsaneh Soltani, Zahra Mohajer, Mohammad Amin Khazeei Tabari, Vahid Eslami   +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., Hoefsloot, L.H.   +1 more
openaire   +2 more sources

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, Inês Vaz Matos, Luís Ribeiro, Maria João Oliveira, Helena Cardoso, Teresa Borges   +5 more
doaj   +1 more source

Expanded carrier screening for inherited genetic disease using exome and genome sequencing

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X‐linked (XL) disorders without the constraints of a predetermined ...
N. Belnap, K. Ramsey, A. Abraham, A. Ryan, S. Rangasamy, A. Bonfitto, M. Naymik, M. Huentelman, S. Strom, D. Perry, A. Subramaniam, W. W. Grody, S. Szelinger, V. Narayanan   +13 more
wiley   +1 more source

Immunometabolism of Liver Xenotransplantation and Prospective Solutions

Advanced Science, Volume 12, Issue 9, March 6, 2025.
After xenotransplantation, pig livers will replace those of human patients to maintain the stability of metabolism and immune system. The incompatibility of immunometabolism between humans and pigs induces rejection, inflammation, coagulation dysfunction, and liver failure. The profile of immunometabolism pre‐transplantation and post‐transplantation is
Shoulong Deng, Yi Zhang, Shasha Shen, Chongyang Li, Chuan Qin   +4 more
wiley   +1 more source

Adrenal steroid hormone responses to exercise under thermal stress: Potential role for nonclassic congenital adrenal hyperplasia in heat illness susceptibility

Physiological Reports, Volume 13, Issue 6, March 2025.
Abstract We queried whether adrenal insufficiency attributable to non‐classic congenital adrenal hyperplasia (21 hydroxylase deficiency, 21OHD) might contribute to heat illness susceptibility. Patients referred to a specialist heat illness clinic (n = 2 with prior hyponatremia; n = 16 lacking documentary evidence) and controls (n = 16) underwent ...
Michael J. Stacey, Carol House, Daniel Roiz de Sa, Stephen J. Brett, Christopher Boot, Andrew Teggert, Adrian J. Allsopp, David R. Woods   +7 more
wiley   +1 more source