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 …

Diagnosis of endocrine disease: congenital hypothyroidism: update and perspectives

C Peters, ASP Van Trotsenburg… - European journal of …, 2018 - academic.oup.com
Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland
itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of …

Clinical genetics of congenital hypothyroidism

G Szinnai - Paediatric Thyroidology, 2014 - karger.com
Congenital hypothyroidism (CH) is a state of insufficient thyroid hormone supply to the
organism, starting in utero. Two forms of permanent primary or thyroidal CH are known …

New genetics in congenital hypothyroidism

A Stoupa, D Kariyawasam, M Muzza, T de Filippis… - Endocrine, 2021 - Springer
Introduction Congenital hypothyroidism (CH) is the most frequent neonatal endocrine
disorder and one of the most common preventable forms of mental retardation worldwide …

Molecular defects in thyroid dysgenesis

C Mio, G Grani, C Durante, G Damante - Clinical genetics, 2020 - Wiley Online Library
Congenital hypothyroidism (CH) is a neonatal endocrine disorder that might occur as itself
or be associated to congenital extra‐thyroidal defects. About 85% of affected subjects …

Genetics of normal and abnormal thyroid development in humans

G Szinnai - Best practice & research Clinical endocrinology & …, 2014 - Elsevier
The most frequent cause of congenital hypothyroidism is thyroid dysgenesis. Thyroid
dysgenesis summarizes a spectrum of developmental abnormalities of the embryonic …

Thyroid C-cell biology and oncogenic transformation

GJ Cote, EG Grubbs, MC Hofmann - Medullary Thyroid Carcinoma …, 2015 - Springer
The thyroid parafollicular cell, or commonly named “C-cell,” functions in serum calcium
homeostasis. Elevations in serum calcium trigger release of calcitonin from the C-cell, which …

TSH receptor function is required for normal thyroid differentiation in zebrafish

R Opitz, E Maquet, M Zoenen, R Dadhich… - Molecular …, 2011 - academic.oup.com
TSH is the primary physiological regulator of thyroid gland function. The effects of TSH on
thyroid cells are mediated via activation of its membrane receptor [TSH receptor (TSHR)]. In …

Genetics of congenital hypothyroidism: Modern concepts

A Stoupa, D Kariyawasam, M Polak, A Carré - Pediatric Investigation, 2022 - mednexus.org
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one
of the most common preventable causes of intellectual disability in the world. CH may be …

Disorders of thyroid morphogenesis

R Abu-Khudir, S Larrivée-Vanier… - Best Practice & …, 2017 - Elsevier
Developmental anomalies of the thyroid gland, defined as thyroid dysgenesis, underlie the
majority of cases of congenital hypothyroidism. Thyroid dysgenesis is predominantly a …