Associated Papers
Functional Domain Mapping of TPO: Insights from Six Variants in Sudanese Kindreds with Congenital Hypothyroidism.
Islam MS et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population.
Dalal A et al.
Hormone Research in Paediatrics, 2025
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF et al.
Endocrine, 2022
Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.
Rodrigues TMB et al.
Frontiers in Endocrinology, 2021
Functional analysis of thyroid peroxidase gene mutations resulting in congenital hypothyroidism.
Zhao D et al.
Clinical Endocrinology, 2020
Defects in protein folding in congenital hypothyroidism.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2020
Prenatal Diagnosis and Management of a Fetal Goiter Hypothyroidism due to Dyshormonogenesis.
Figueiredo CM et al.
Case Reports in Endocrinology, 2018
Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.
Narumi S et al.
Endocrine Journal, 2017
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
Bougacha-Elleuch N et al.
European Journal of Pediatrics, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter.
Al-Faisal AH et al.
Comparative Clinical Pathology, 2014
Mutations of the thyroid peroxidase gene in Chinese siblings with congenital goitrous hypothyroidism.
Ma SG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
Belforte FS et al.
Clinical Endocrinology, 2012
[Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].
Li HF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
Rivolta CM et al.
Clinical Endocrinology, 2007
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
Avbelj M et al.
European Journal of Endocrinology, 2007
A novel hypothyroid dwarfism due to the missense mutation Arg479Cys of the thyroid peroxidase gene in the mouse.
Takabayashi S et al.
Molecular Endocrinology (baltimore, Md.), 2006
Genetic factors that might lead to different responses in individuals exposed to perchlorate.
Scinicariello F et al.
Environmental Health Perspectives, 2005
Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.
Tajima T et al.
Endocrine Journal, 2005
Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.
Rodrigues C et al.
European Journal of Endocrinology, 2005
Comparative analysis and characterization of mutated thyroid peroxidases with disturbance expressed on the cell surface.
Umeki K et al.
Molecular and Cellular Endocrinology, 2004
A Novel Missense Mutation in the Thyroid Peroxidase Gene, R175Q, Resulting in Insufficient Cell Surface Enzyme in Two Siblings.
Kotani T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2004
Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
Nascimento AC et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
An outline of inherited disorders of the thyroid hormone generating system.
Knobel M et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.
Umeki K et al.
European Journal of Endocrinology, 2002