Results 71 to 80 of about 4,066 (184)

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, Ágnes Szilágyi, Zoltán Doleschall, Attila Patócs, Henriette Farkas, Zoltán Prohászka, Kárioly Rácz, George Füst, Márton Doleschall   +8 more
doaj   +1 more source

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, Guangmin Zheng, Xiaoyong Hu, Feng Tian, Tuo Li, Zheng Zhang, Kan Gong, Shiwei Chen, Lin Yuan, Yu Qi, Lin Li, Daofu Cheng, Liu Liu, Fuqiang Liu, Yujing Sun, Xiangdong Fang, Ruxing Zhao, Bing Liu, Chao Zhang   +18 more
wiley   +1 more source

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population

Frontiers in Endocrinology, 2023
ObjectiveCongenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the CYP21A2 gene.
Katja K. Dumic, Zorana Grubic, Vesna Kusec, Duje Braovac, Kristina Gotovac, Maja Vinkovic, Maja Vucinic, Miroslav Dumic   +7 more
doaj   +1 more source

Divergent Gender Identity in a Phenotypic Male with 46XX Karyotype Caused by a Mutation in CYP21A2 Gene with Congenital Adrenal Hyperplasia

International Journal of Applied and Basic Medical Research
A male patient in his late twenties presented with ambiguous genitalia to our tertiary specialist unit with complaints of short stature and inadequate copulation.
K. P. Kumar, S. Banik, Praisy Joy, Sanjukta Sahoo   +3 more
semanticscholar   +1 more source

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

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

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

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

A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia

Ожирение и метаболизм
Multiple endocrine neoplasia type 1 (MEN1) and congenital adrenal hyperplasia (CAH) are rare monogenic hereditary endocrinopathies with a prevalence of 1–9 cases per 100,000 and 9–15 cases per 100,000, respectively.
A. S. Bondarenko, E. O. Mamedova, Zh. E. Belaya, G. A. Melnichenko   +3 more
doaj   +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