Associated Papers
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.
Stoupa A et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.
Li L et al.
Endocrine, 2021
Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations.
Zheng Z et al.
Annals of Translational Medicine, 2020
Defects in protein folding in congenital hypothyroidism.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2020
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter.
Liu S et al.
Oncotarget, 2018
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.
Kizys MML et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Disorders of H2O2 generation.
Muzza M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.
Maruo Y et al.
European Journal of Endocrinology, 2016
Hypothyroidism-associated missense mutation impairs NADPH oxidase activity and intracellular trafficking of Duox2.
Donkó Á et al.
Free Radical Biology & Medicine, 2014
Structural stability and heme binding potential of the truncated human dual oxidase 2 (DUOX2) peroxidase domain.
Meitzler JL et al.
Archives of Biochemistry and Biophysics, 2011
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H et al.
Current Opinion in Pediatrics, 2011
DUOXS defects: Genotype-phenotype correlations.
Fugazzola L et al.
Annales D'endocrinologie, 2011
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 hypothyroidism.
Hoste C et al.
Human Mutation, 2010
Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland.
Tonacchera M et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.
Maruo Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter.
Ohye H et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.
Grasberger H et al.
Molecular Endocrinology (baltimore, Md.), 2007
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.
Pfarr N et al.
Clinical Endocrinology, 2006