[HTML][HTML] Genetics of thyroid function and disease

V Panicker - The Clinical Biochemist Reviews, 2011 - ncbi.nlm.nih.gov
Genetics play a prominent role in both determination of thyroid hormone and thyrotropin
(TSH) concentrations, and susceptibility to autoimmune thyroid disease. Heritability studies …

Genetic variation in thyroid hormone pathway genes; polymorphisms in the TSH receptor and the iodothyronine deiodinases

RP Peeters, WM van der Deure… - European journal of …, 2006 - academic.oup.com
Serum thyroid parameters show substantial inter-individual variability, in which genetic
variation is a major factor. Findings in patients with subclinical hyper-and hypothyroidism …

The genetics of autoimmune thyroid disease

AP Weetman - Hormone and Metabolic Research, 2009 - thieme-connect.com
Recent studies have confirmed that polymorphisms in several genes confer susceptibility for
the development of autoimmune thyroid disease, and that of these HLA-DR alleles, and the …

Novel insights into thyroid hormones from the study of common genetic variation

CM Dayan, V Panicker - Nature Reviews Endocrinology, 2009 - nature.com
Abstract Effects of thyroid hormones in individual tissues are determined by many factors
beyond their serum levels, including local deiodination and expression and activity of thyroid …

Familial forms of thyroid dysgenesis

M Castanet, M Polak, J Léger - Thyroid Gland Development and …, 2007 - karger.com
In many instances, the pathophysiology of thyroid dysgenesis (TD) remains as yet unclear
and until relatively recently the disorder was usually regarded as occurring in a sporadic …

Thyrotropin receptor polymorphisms and thyroid diseases

M Tonacchera, A Pinchera - The Journal of Clinical …, 2000 - academic.oup.com
Mutations arise as a change in the coding sequence of a gene. Point mutations occur when
another replaces one base. Insertions and deletions are the addition and removal of one or …

Molecular mechanisms of thyroid dysgenesis

M Polak, S Sura-Trueba, A Chauty, G Szinnai… - Hormone …, 2004 - karger.com
Thyroid dysgenesis (TD) is the most prevalent form of congenital hypothyroidism. Ttf-1, Ttf-2,
Pax8 and the Tshr are expressed at early stages of thyroid development and are implicated …

Genetic disorders of thyroid development, hormone biosynthesis and signalling

C Moran, N Schoenmakers, WE Visser… - Clinical …, 2022 - Wiley Online Library
Abstract Development and differentiation of the thyroid gland is directed by expression of
specific transcription factors in the thyroid follicular cell which mediates hormone …

Genetic regulation of thyroid development

MP Gillam, P Kopp - Current opinion in pediatrics, 2001 - journals.lww.com
Normal thyroid function is essential for development, growth, and metabolic homeostasis.
The prerequisites for an euthyroid metabolic state include a normally developed thyroid …

Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects

RP Peeters, H van Toor, W Klootwijk… - The Journal of …, 2003 - academic.oup.com
Single nucleotide polymorphisms (SNPs) in genes involved in thyroid hormone metabolism
may affect thyroid hormone bioactivity. We investigated the occurrence and possible effects …