Results 71 to 80 of about 3,461 (195)
Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P.
, 2007 P450 oxidoreductase (POR) has a pivotal role in facilitating electron transfer from nicotinamide adenine dinucleotide phosphate to microsomal cytochrome P450 (CYP) enzymes, including the steroidogenic enzymes CYP17A1 and CYP21A2.
Hannah E Ivison (16064012) +6 more
core +2 more sources
Transcript Patterns of Bovine <i>CYP21A2</i> and Its Pseudogene in Adrenal and Ovarian Tissues. [PDF]
Genes (Basel)Background: The cytochrome P450 family 21 subfamily A member 2 gene (CYP21A2) encodes 21-hydroxylase, a key enzyme in adrenal steroid biosynthesis. Despite its physiological importance, the diversity of CYP21A2 transcript variants and their tissue-specific expression in domestic animals, including cattle, remains largely unexplored. This study aimed to
Wozniak J +3 more
europepmc +3 more sources
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 +7 more
doaj +1 more source
Reproductive Medicine and Biology, Volume 25, Issue 1, January/December 2026.Thyroid autoimmunity may exert a subtle influence on ovarian reserve through complex endocrine and immune mechanisms, with age‐specific variation. Although AMH alterations are observed, their clinical relevance for primary ovarian insufficiency, fertility, and treatment outcomes of assisted reproduction remains unclear, highlighting the need for ...
Akira Iwase +9 more
wiley +1 more source
Human Mutation, Volume 2026, Issue 1, 2026.The observational studies confirmed the high prevalence of metabolic dysfunction–associated steatotic liver disease (MASLD) in patients with Type 2 diabetes mellitus (T2DM), but whether this reflects a shared genetic etiology and exists underlying causal relationships remains unknown. Here, we utilized the largest scale cross‐trait analysis from genome‐
Zijun Zhu +5 more
wiley +1 more source
Molecular characterization of a new CYP21A2 allele and classification of its pathogenicity [PDF]
, 2023 publicado em: Eur J Hum Genet. 2024;32(Suppl1):1–2. https://doi.org/10.1038/s41431-023-01479-6Background: The CYP21A2 gene, coding for 21-Hydroxylase (21-OH), is located on 6p21.3 within the major histocompatibility complex, and integrated in a cluster ...
Gomes, Susana +2 more
core
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
From Genomic Fossils to Functional Elements: The Evolving Story of Pseudogenes
Advanced Genetics, Volume 6, Issue 4, December 2025.This review begins with an introduction, summarizing the research background in pseudogene studies. It then contains three aspects: identification of pseudogenes, detailing their classification and features in metazoan genomes; functional pseudogenes, introducing their reactivation and regulation mechanisms; and pseudogenes’ contribution to species ...
Mengyao Sun, Yanni Ma, Jia Yu
wiley +1 more source
, 2021 Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroidogenesis with a broad spectrum of clinical presentations, ranging from the severe classical salt-wasting (SW) and simple-virilizing (SV) form, to the ...
Kocova, Mirjana +6 more
core +1 more source
The Concise Guide to PHARMACOLOGY 2025/26: Enzymes
British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +31 more
wiley +1 more source