Article

Characterization of mutations causing steroid 21-hydroxylase deficiency in Brazilian and Portuguese populations

2021-12-07

Abstract excerpt

Deficiency of Cytochrome P450 Steroid 21-hydroxylase (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction along with functional studies are often the only way to classify variants to understand the links to disease-causing effects. Here we investigated the pathogenicity of uncharacterized varia...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 87188055-42ce-5d19-b6ac-c30cc5046df0
DOI: 10.1101/2021.12.07.471616

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Characterization of mutations causing steroid 21-hydroxylase deficiency in Brazilian and Portuguese populationsDOI 10.1101/2021.12.07.471616Read

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese PopulationsSemantic proximity Read

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.Semantic proximity Read

Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients.Semantic proximity Read

Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.Semantic proximity Read

Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.Semantic proximity Read

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.Semantic proximity Read

Functional and structural analysis of four novel mutations of CYP21A2 gene in Italian patients with 21-hydroxylase deficiency.Semantic proximity Read

CYP21A2 intronic variants causing 21-hydroxylase deficiency.Semantic proximity Read

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.Semantic proximity Read

Integrated Functional and Structural Analysis of Eleven <em>CYP21A2 </em>Variants of Uncertain Significance Resolves Their Pathogenic Role in Congenital Adrenal HyperplasiaSemantic proximity Read

Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.Semantic proximity Read

Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.Semantic proximity Read