Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
Baz-Redón N et al.
International Journal of Molecular Sciences, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.
Sun F et al.
Clinical Genetics, 2021
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
Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis.
Boni A et al.
Diagnostics (basel, Switzerland), 2021
Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg.
Alves-Leon SV et al.
Frontiers in Genetics, 2021
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
Chiesa AE et al.
Frontiers in Endocrinology, 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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.
Wang H et al.
Molecular Medicine Reports, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Defects in protein folding in congenital hypothyroidism.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2020
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter.
Liu S et al.
Oncotarget, 2018
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
Makretskaya N et al.
Plos One, 2018
Thyroid hormone regulates hematopoiesis via the TR-KLF9 axis.
Zhang Y et al.
Blood, 2017
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
When an Intramolecular Disulfide Bridge Governs the Interaction of DUOX2 with Its Partner DUOXA2.
Carré A et al.
Antioxidants & Redox Signaling, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Hypothyroidism-associated missense mutation impairs NADPH oxidase activity and intracellular trafficking of Duox2.
Donkó Á et al.
Free Radical Biology & Medicine, 2014
[DUOX2 gene mutation in patients with congenital goiter with hypothyroidism].
Lü ZP et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
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
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
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.
Vigone MC et al.
Human Mutation, 2005