Results 81 to 90 of about 6,020 (257)
BMC Medical Genetics, 2018 Background Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2.
Yılmaz Kor +5 more
doaj +1 more source
Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children
Frontiers in Genetics, 2022 Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the CYP21A2 gene, with 21-hydroxylase deficiency (21-OHD) as the most common type.
Aisha Tolba +11 more
doaj +1 more source
ACTH receptor, CYP11A1, CYP17 and CYP21A2 genes are expressed in skin. [PDF]
The Journal of Clinical Endocrinology & Metabolism, 1996 Evidence is provided that mRNA for ACTH (MC-2) receptor and mRNAs for three obligatory enzymes of steroid synthesis including cytochromes P450scc, P450c17 and P450c21 are expressed in normal and pathologic human skin. Thus, molecular elements of the distal loop of the "pituitary-adrenal axis" such as the MC-2, CYP11A1, CYP17 and CYP21A2 genes are ...
Andrzej Slominski +2 more
openaire +3 more sources
In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant [PDF]
International Journal of Molecular Sciences, 2020 Classical congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the steroid 21-hydroxylase gene (CYP21A2) is a severe life-threatening condition. We present a detailed investigation of the molecular and functional characteristics of a novel pathogenic variant in this gene.
Michal Cohen +7 more
openaire +4 more sources
Genomic technologies and the diagnosis of 46, XY differences of sex development
Andrology, EarlyView.Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris +2 more
wiley +1 more source
Identification and circumvention of bottlenecks in CYP21A2-mediated premedrol production using recombinant Escherichia coli [PDF]
, 2019 Synthetic glucocorticoids such as methylprednisolone are compounds of fundamental interest to the pharmaceutical industry as their modifications within the sterane scaffold lead to higher inflammatory potency and reduced side effects compared with their ...
Bernhardt, Rita +6 more
core +1 more source
The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family [PDF]
European Journal of Medical Research, 2019 The simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder usually caused by steroid 21-hydroxylase deficiency due to I172N missense mutation at the CYP21A2 gene. Clinical presentation encompasses virilization of external genitalia in newborn females and pseudoprecocious puberty in both sexes, due to ...
Mirjana Kocova +2 more
openaire +4 more sources
MOLECULAR DOCKING OF SPEARMINT PHYTOCOMPOUNDS AGAINST CYP21A2: IMPLICATIONS FOR PCOS THERAPY
Innovare Journal of Medical SciencesObjectives: In this study, phytocompounds of spearmint that is known to have anti-androgenic activity are docked against a protein CYP21A2. This protein is also known as progesterone complex, one of the member cytochrome P450 enzymes; mutations in the ...
Sneha Malakhed
semanticscholar +1 more source
The gut‐microbiota‐brain axis: Focus on gut steroids
Journal of Neuroendocrinology, EarlyView.Abstract There are over 1000 varieties of steroids that have been reported in nature, including the endogenous sex steroid hormones (i.e., progesterone, testosterone, and 17β‐estradiol) and corticosteroids which are mainly synthesized by gonads and adrenals, respectively.
Silvia Diviccaro +4 more
wiley +1 more source
International Journal of Endocrinology, 2020 Premature pubarche (PP) is the appearance of sexual hair in children before puberty. The PP phenotype may attribute to nonclassic congenital adrenal hyperplasia (NC-CAH).
Mahdieh Soveizi +7 more
doaj +1 more source