WebGene target information for CYP21A2 - cytochrome P450 family 21 subfamily A member 2 (human). Find diseases associated with this biological target and compounds tested … WebAug 10, 2024 · The promoter region of CYP21A2 gene should be analyzed when no variant is detected in its coding regions. Diagnosis of NC-21OHD should be considered for …
Genotype–phenotype correlation in 1,507 families with ... - PNAS
WebJan 19, 2009 · Patients and methods CYP21A2 was screened for mutations in 20 patients with the simple virilizing form of 21OHD, including the promoter region. The transcriptional activities of the variants in the promoter were investigated using a dual-reporter luciferase assay system and electromobility gel shift assays. ... –295T > C, –294 A > C, –283 ... WebDec 31, 2024 · 2024. PMID: 32616876. Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone. Oriolo C. Journal of endocrinological investigation. 2024. PMID: 32236851. Novel non-classic CYP21A2 variants, including combined … daryl morey steph curry tweet
Frontiers The underlying cause of the simple virilizing phenotype …
WebOct 1, 2007 · This variation, -113G > A, is located in the upstream region of the CYP21A2 gene where the -113 single nucleotide polymorphism has been replaced by an upstream … WebHighlights. This test aids in carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH). Full gene sequencing and multiplex ligation … WebDec 31, 2024 · NM_000500.7 (CYP21A2):c.92C>T (P31L) is classified as pathogenic in the context of congenital adrenal hyperplasia, CYP21A2-related and is associated with the non-classic form of disease. Sources cited for classification include the following: PMID 23142378, 16427797, 23359698, 1644925, 2072928 and 9215318. bitcoin getrawtransaction