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 …
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 …
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 …
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 …
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' …
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 …
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 …
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 …
hypothyroidism (CH) patients, we collected blood samples and extracted genomic DNA of …
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 …
[HTML][HTML] Ectopic thyroid tissue in the anterior mediastinum along with a normally located gland
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 …
normal migration of the thyroid gland, from the floor of the primitive foregut to its final …