Structure and genetic variants of thyroglobulin: Pathophysiological implications

CE Citterio, CM Rivolta, HM Targovnik - Molecular and cellular …, 2021 - Elsevier
Thyroglobulin (TG) plays a main role in the biosynthesis of thyroid hormones (TH), and, thus,
it is involved in a wide range of vital functions throughout the life cycle of all vertebrates …

Derivation of thyroid follicular cells from pluripotent stem cells: insights from development and implications for regenerative medicine

A Posabella, AB Alber, HJ Undeutsch… - Frontiers in …, 2021 - frontiersin.org
Stem cell-based therapies to reconstitute in vivo organ function hold great promise for future
clinical applications to a variety of diseases. Hypothyroidism resulting from congenital lack of …

[HTML][HTML] Perinatal risk factors for congenital hypothyroidism: A retrospective cohort study performed at a tertiary hospital in China

J Zhou, J Luo, J Lin, Y Zeng, X Qiu, W Zhu, G Liu - Medicine, 2020 - journals.lww.com
Congenital hypothyroidism (CH) is one of the most common neonatal endocrine diseases.
This retrospective cohort study aimed to identify the potential perinatal risk factors for CH …

Congenital hypothyroidism patients with thyroid hormone receptor variants are not rare: a systematic review

DZ Da, Y Wang, M Wang, Z Long… - … : The Journal of …, 2021 - journals.sagepub.com
Background Primary congenital hypothyroidism (CH) is a common endocrine and metabolic
disease. Various genetic factors, including the thyroid hormone receptor (TSHR), play an …

HOXB3 promotes trophoblast cell proliferation, invasion, and migration to alleviate preeclampsia via mediating the Notch/Wnt/β-catenin pathway

X Jia, S Yang, X Wang, J Ruan, W Huang - European Journal of …, 2023 - Elsevier
Preeclampsia (PE) harms a significant number of pregnant women and fetuses. However,
because of its complex pathological mechanisms, there is no cure except for delivery. This …

The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice

N Yamaguchi, A Suzuki, A Yoshida, T Tanaka… - Scientific reports, 2022 - nature.com
SLC26A4 is a known iodide transporter, and is localized at the apical membrane of
thyrocytes. Previously, we reported that SLC26A7 is also involved in iodide transport and …

GLIS3 expression in the thyroid gland in relation to TSH signaling and regulation of gene expression

HS Kang, SA Grimm, XH Liao, AM Jetten - Cellular and Molecular Life …, 2024 - Springer
Abstract Loss of GLI-Similar 3 (GLIS3) function in mice and humans causes congenital
hypothyroidism (CH). In this study, we demonstrate that GLIS3 protein is first detectable at …

Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in …

L Li, C Jia, X Li, F Wang, Y Wang, Y Chen, S Liu… - Clinica Chimica …, 2021 - Elsevier
Background Congenital hypothyroidism (CH), the most common neonatal endocrine
disorder worldwide, can be caused by variants in thyroid transcription factor (TTF) genes …

The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism

RJ Zhang, F Sun, F Chen, Y Fang, CY Yan… - Molecular and cellular …, 2020 - Elsevier
Inborn defects in thyroid hormone biosynthesis contribute to nearly half of congenital
hypothyroidism (CH) cases in China. The thyroid peroxidase (TPO) mutation is one of the …

Disulfide bonds of thyroid peroxidase are critical elements for subcellular localization, proteasome-dependent degradation, and enzyme activity

H Iwasaki, H Suwanai, F Yakou, H Sakai, K Ishii… - Thyroid, 2024 - liebertpub.com
Background: Congenital hypothyroidism (CH) is caused by mutations in cysteine residues,
including Cys655 and Cys825 that form disulfide bonds in thyroid peroxidase (TPO). It is …