Results 61 to 70 of about 4,073 (218)
Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia
International Journal of Endocrinology, 2017 Heterozygosity for CYP21A2 mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and ...
Vassos Neocleous +10 more
doaj +1 more source
Ultralow-dose dexamethasone to preserve endogenous cortisol stress response in nonclassical congenital adrenal hyperplasia: A new promising treatment [PDF]
, 2014 Introduction: Nonclassical congenital adrenal hyperplasia (CAH) is characterized by sufficient cortisol and aldosterone production at the cost of androgen overproduction.
Akker, E.L.T. (Erica) van den +1 more
core +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
Diagnosis of mutations in the CYP21A2 gene
Endocrine Surgery.
E. S. Podshivalova +3 more
openaire +1 more source
Frontiers in GeneticsBackground21-Hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. Due to the complex structure and the high genetic heterogeneity of the CYP21A2 gene, genetic testing for 21-OHD is currently facing challenges.
Tian Lan +5 more
doaj +1 more source
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
core
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
Congenital Adrenal Hyperplasia in Adults [PDF]
, 2010 Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid synthesis. More than 95% of CAH cases are caused by reduced 21-hydroxylase function leading to variable extent of cortisol and aldosterone deficiency in ...
Falhammar, Henrik
core +1 more source
Germ cell and other tumors in individuals with differences in sex development
CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel +1 more
wiley +1 more source
A CYP21A2 based whole-cell system in Escherichia coli for the biotechnological production of premedrol [PDF]
, 2015 Additional file 4: Fig. S4. In vitro conversion of medrane with the redox systems AdR/Adx/CYP21A2 or arh1/Adx/CYP21A2 with either NADH or NADPH. 400 ÎźM Medrane was converted in a reconstituted in vitro assay with Adx based redox systems containing AdR ...
Bernd Janocha +4 more
core +5 more sources