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Article

Disorders of H2O2 generation.

Best practice & research. Clinical endocrinology & metabolism - 1 Mar 2017

Muzza Marina, Fugazzola Laura

Abstract excerpt

After the identification of thyroid H2O2 generation system (DUOX) and of its maturation factors (DUOXA), defects in DUOX2 and/or DUOXA2 were rapidly recognized as the possible cause of congenital hypothyroidism (CH) due to thyroid dyshormonogenesis. The present Review reports data on the prevalence of DUOX2 mutations, which is variable among different series but invariably high, pointing to DUOX2 defects as one...

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Share to Congenital Hypothyroidism
Share to Dual Oxidases
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Heterogeneity

Share to Hydrogen Peroxide

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Source

Identifiers

PMID: 28648510
DOI: 10.1016/j.beem.2017.04.006

Genes

DUOX2
DUOXA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

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Disorders of H2O2 generation.PMID 28648510Read ↗

DUOXS defects: Genotype-phenotype correlations.Semantic proximity Read ↗

Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism.Semantic proximity Read ↗

New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.Semantic proximity Read ↗

The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.Semantic proximity Read ↗

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.Semantic proximity Read ↗

Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.Semantic proximity Read ↗

A Novel Missense Mutation (I26M) in<i>DUOXA2</i>Causing Congenital Goiter Hypothyroidism Impairs NADPH Oxidase Activity but Not Protein ExpressionSemantic proximity Read ↗

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.Semantic proximity Read ↗

Conformation of the N-Terminal Ectodomain Elicits Different Effects on DUOX Function: A Potential Impact on Congenital Hypothyroidism Caused by a H2O2 Production Defect.Semantic proximity Read ↗

Roles of DUOX-Mediated Hydrogen Peroxide in Metabolism, Host Defense, and SignalingSemantic proximity Read ↗

Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidismSemantic proximity Read ↗

High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.Semantic proximity Read ↗

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