Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.

The Journal of clinical endocrinology and metabolism - 1 Jun 2008

Soardi F C, Barbaro M, Lau I F, Lemos-Marini S H V, Baptista M T M, Guerra-Junior G, Wedell A, Lajic S, de Mello M P

Abstract excerpt

BACKGROUND: Most patients with 21-hydroxylase deficiency carry CYP21A1P-derived mutations, but an increasing number of novel and rare mutations have been reported in disease-causing alleles. OBJECTIVE: Functional effects of three novel (p.G56R, p.L107R, p.L142P) and one recurrent (p.R408C) CYP21A2 mutations were investigated. The degree of enzyme impairment caused by p.H62L alone or combined to p.P453S was also...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Enzyme Activation

Share to Genetic Testing

Share to Genotype

Share to Infant

Share to Infant, Newborn

Share to Transfection

Source

Identifiers

PMID: 18381579
DOI: 10.1210/jc.2007-2594

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.PMID 18381579Read ↗

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

p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.Semantic proximity Read ↗

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 ↗

Characterization of mutations causing steroid 21-hydroxylase deficiency in Brazilian and Portuguese populationsSemantic proximity Read ↗

Functional Analysis of Two Recurrent Amino Acid Substitutions in the<i>CYP21</i>Gene from Italian Patients with Congenital Adrenal HyperplasiaSemantic proximity Read ↗

In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.Semantic proximity Read ↗

Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

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

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.Semantic proximity Read ↗

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

Novel mutations in CYP21 detected in individuals with hyperandrogenism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.