Iodide handling disorders (nis, tpo, tg, iyd)
HM Targovnik, CE Citterio, CM Rivolta - Best Practice & Research Clinical …, 2017 - Elsevier
Iodide Handling Disorders lead to defects of the biosynthesis of thyroid hormones (thyroid
dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common …
dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common …
Investigation of the impact of nonsynonymous mutations on thyroid peroxidase dimer
Congenital hypothyroidism is one of the most common preventable endocrine disorders
associated with thyroid dysgenesis or dyshormonogenesis. Thyroid peroxidase (TPO) gene …
associated with thyroid dysgenesis or dyshormonogenesis. Thyroid peroxidase (TPO) gene …
Curating the gnomAD database: report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review
MF Molina, MG Pio, KG Scheps, E Adrover… - Molecular and Cellular …, 2022 - Elsevier
Thyroid peroxidase (TPO) is a membrane-bound glycoprotein located at the apical side of
the thyroid follicular cells that catalyzes both iodination and coupling of iodotyrosine …
the thyroid follicular cells that catalyzes both iodination and coupling of iodotyrosine …
Mutation spectrum in TPO gene of Bangladeshi patients with thyroid dyshormonogenesis and analysis of the effects of different mutations on the structural features …
Although thyroid dyshormonogenesis (TDH) accounts for 10‐20% of congenital
hypothyroidism (CH), the molecular etiology of TDH is unknown in Bangladesh. Thyroid …
hypothyroidism (CH), the molecular etiology of TDH is unknown in Bangladesh. Thyroid …
High-resolution melt curve analysis: An approach for variant detection in the TPO gene of congenital hypothyroid patients in Bangladesh
TPO (Thyroid Peroxidase) is known to be one of the major genes involved in congenital
hypothyroid patients with thyroid dyshormonogenesis. The present study aims to validate …
hypothyroid patients with thyroid dyshormonogenesis. The present study aims to validate …
Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population
Functional characterization of thyroid peroxidase missense variants causing thyroid
dyshormonogenesis in Asian Indian population Page 1 Horm Res Paediatr , DOI: 10.1159/000539825 …
dyshormonogenesis in Asian Indian population Page 1 Horm Res Paediatr , DOI: 10.1159/000539825 …
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis
MF Molina, P Papendieck, G Sobrero, VA Balbi… - Endocrine, 2022 - Springer
Purpose Primary congenital hypothyroidism (CH) is the most common endocrine disease in
children and one of the preventable causes of both cognitive and motor deficits. We present …
children and one of the preventable causes of both cognitive and motor deficits. We present …
Association of thyroid peroxidase gene polymorphisms and serum anti-TPO levels in Egyptian patients with autoimmune hypothyroidism
HS Ahmed, AAM Nsrallah… - … Metabolic & Immune …, 2021 - ingentaconnect.com
Background: Thyroid peroxidase (TPO) gene mutation leads to a change in enzyme built
structure resulting in the anti-TPO autoantibodies production that may cause thyroid …
structure resulting in the anti-TPO autoantibodies production that may cause thyroid …
Functional analysis of thyroid peroxidase gene mutations resulting in congenital hypothyroidism
D Zhao, Y Li, Z Shan, W Teng, J Li… - Clinical …, 2020 - Wiley Online Library
Objective Thyroid peroxidase (TPO) is essential for thyroid hormone biosynthesis. TPO
mutations might lead to congenital hypothyroidism. In the present study, we analysed the …
mutations might lead to congenital hypothyroidism. In the present study, we analysed the …
Co-existence of Congenital Hypothyroidism (CH) and TBG-Excess in a Boy Causing Simultaneous Elevation in Thyroid Stimulating Hormone (TSH) and Thyroxine (T4 …
S Gawandi, J Kumarasamy, S Kulkarni - Indian Journal of Clinical …, 2024 - Springer
A certain population of patients exhibits discordant thyroid function tests (TFT) consistently
along with unclear symptoms may lead to equivocal diagnosis and treatment. Concomitant …
along with unclear symptoms may lead to equivocal diagnosis and treatment. Concomitant …