Results 1 to 10 of about 20,605 (223)
Steroid 21-hydroxylase gene variants and late-life depression. [PDF]
BMC Res Notes, 2021 Abstract Objectives A feature of late-life depression is alterations of the stress hormone system. The CYP21A2 gene encodes for the steroid 21-hydroxylase enzyme which is required for the biosynthesis of mineralocorticoids and glucocorticoids, two main components of the stress response in humans.
Ancelin ML +4 more
europepmc +7 more sources
Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency. [PDF]
Clin Pediatr Endocrinol, 2008 Steroid 21-hydroxylase deficiency (21-OHD) accounts for 90-95% of congenital adrenal hyperplasia (CAH) cases. It is classified into three distinct clinical phenotypes: the salt-wasting (SW), simple virilizing (SV) and nonclassical forms (NC). As girls with the SW and SV forms of 21-OHD are exposed to high systemic levels of adrenal androgens during ...
Tajima T, Fujieda K.
europepmc +5 more sources
Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency. [PDF]
Proceedings of the National Academy of Sciences, 1991 Haplotypes of the complement 4 (C4) and steroid 21-hydroxylase [21-OHase; steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] repeated gene complex were studied in nine families with at least one member affected with a mild form of 21-OHase deficiency.
B, Haglund-Stengler +3 more
openaire +4 more sources
An Overview of Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency [PDF]
The Journal of Molecular Diagnostics, 2001 Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia (CAH), a group of inborn errors of adrenal steroid biosynthesis. 1 Approximately 1 in 14,000 newborns is affected with the classic form of the disease. A milder, late-onset or non-classic form that is clinically evident in approximately 1 in 1000 females also
C E, Keegan, A A, Killeen
openaire +4 more sources
Structure of human steroid 21-hydroxylase genes. [PDF]
Proceedings of the National Academy of Sciences, 1986 We have determined the structure of cDNA and two genomic genes encoding steroid 21-hydroxylase [21-OHase; steroid 21-monooxygenase; steroid, hydrogen-donor:oxygen oxidoreductase (21-hydroxylating); EC 1.14.99.10]. If this cytochrome P-450 enzyme is defective, cortisol cannot be synthesized, resulting in congenital adrenal hyperplasia. The cDNA encoding
P C, White, M I, New, B, Dupont
openaire +3 more sources
Endocrinologia Japonica, 1987 DNA samples from five unrelated Japanese patients with 21-hydroxylase (21-OHase) deficiency were studied by Southern analysis using human 21-OHase cDNA. Patterns seen after digestion with not only TaqI but also KpnI showed that two out of the five patients were homozygous for a deletion of the 21-OHase B gene.
NAKURA, JUN +8 more
+6 more sources
Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics [PDF]
Frontiers in EndocrinologyObjectiveThis study aimed to investigate the clinical, steroid hormones and genetic characteristics of Chinese children with 21-hydroxylase deficiency (21OHD).MethodsThis retrospective study included 115 children with 21OHD.
Zhang Huifeng, Baorong Chen
exaly +4 more sources
MUTATIONAL SPECTRUM OF THE STEROID 21-HYDROXYLASE GENE [PDF]
Pediatric Research, 1993 Lesions in the gene encoding steroid 21-hydroxylase (CYP21) result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate.complete characterization of mutations in this region of landemly repeated genes, we have developed selective PCR amplification and direct sequencing of full-length ...
A Wedell, E M Ritzén, H Luthman
openaire +2 more sources
Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2015 Context: Marked elevations of 17-hydroxyprogesterone (17OHP) are characteristic of classic 21-hydroxylase deficiency (21OHD). Testing of 17OHP provides the basis for 21OHD diagnosis, although it suffers from several pitfalls.
Adina F, Turcu +9 more
openaire +2 more sources
Steroid 21-hydroxylase expression and activity in human lymphocytes
Molecular and Cellular Endocrinology, 1997 Steroid 21-hydroxylase encoded by CYP21 is expressed in adrenal cortex. Mutations in CYP21 cause potentially lethal congenital adrenal hyperplasia (CAH). Earlier observations suggested alternative sources of 21-hydroxylase activity, although its genetic source remains unclear.
Z, Zhou +4 more
openaire +2 more sources