Thyroid transcription factors in development, differentiation and disease

LP Fernandez, A Lopez-Marquez… - Nature Reviews …, 2015 - nature.com
Identification of the thyroid transcription factors (TTFs), NKX2-1, FOXE1, PAX8 and HHEX,
has considerably advanced our understanding of thyroid development, congenital thyroid …

[HTML][HTML] Pediatric hypothyroidism: diagnosis and treatment

AJ Wassner - Pediatric Drugs, 2017 - Springer
Thyroid hormone has important physiologic functions in nearly every organ system. The
critical role of thyroid hormone in growth and in physical and neurologic development lends …

Congenital hypothyroidism: screening and management

SR Rose, AJ Wassner, KA Wintergerst… - …, 2023 - publications.aap.org
Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Prompt diagnosis
by newborn screening (NBS) leading to early and adequate treatment results in grossly …

Newborn screening and molecular profile of congenital hypothyroidism in a Chinese population

B Yu, W Long, Y Yang, Y Wang, L Jiang, Z Cai… - Frontiers in …, 2018 - frontiersin.org
To review the characteristics of newborn screening of congenital hypothyroidism (CH), we
reviewed the newborn screening data, including the levels of blood spot thyroid-stimulating …

High frequency of mutations in'dyshormonogenesis genes' in severe congenital hypothyroidism

N Makretskaya, O Bezlepkina, A Kolodkina, A Kiyaev… - PloS one, 2018 - journals.plos.org
Objective Results of the screening of disease causative mutations in congenital
hypothyroidism (CH) vary significantly, depending on the sequence strategy, patients' …

A rapid CRISPR/Cas-based mutagenesis assay in zebrafish for identification of genes involved in thyroid morphogenesis and function

A Trubiroha, P Gillotay, N Giusti, D Gacquer, F Libert… - Scientific Reports, 2018 - nature.com
The foregut endoderm gives rise to several organs including liver, pancreas, lung and
thyroid with important roles in human physiology. Understanding which genes and …

Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism

H Wang, X Kong, Y Pei, X Cui… - Molecular …, 2020 - spandidos-publications.com
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder with a
genetic origin. The purpose of the present study was to analyze the mutation spectrum of CH …

Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism

W Long, G Lu, W Zhou, Y Yang, B Zhang, H Zhou… - Endocrine …, 2018 - jstage.jst.go.jp
To identify the spectrum and prevalence of thirteen causative genes mutations in congenital
hypothyroidism (CH) patients, we collected blood samples and extracted genomic DNA of …

Investigation of the impact of nonsynonymous mutations on thyroid peroxidase dimer

MN Begum, R Mahtarin, S Ahmed, I Shahriar… - PloS One, 2023 - journals.plos.org
Congenital hypothyroidism is one of the most common preventable endocrine disorders
associated with thyroid dysgenesis or dyshormonogenesis. Thyroid peroxidase (TPO) gene …

[HTML][HTML] Ectopic thyroid tissue in the anterior mediastinum along with a normally located gland

E Kola, A Gjata, I Kola, A Guy, J Musa, V Biba… - Radiology Case …, 2021 - Elsevier
Ectopic thyroid tissue is a rare developmental abnormality arising from an aberration in the
normal migration of the thyroid gland, from the floor of the primitive foregut to its final …