Thyroglobulin from molecular and cellular biology to clinical endocrinology

B Di Jeso, P Arvan - Endocrine reviews, 2016 - academic.oup.com
Thyroglobulin (Tg) is a vertebrate secretory protein synthesized in the thyrocyte endoplasmic
reticulum (ER), where it acquires N-linked glycosylation and conformational maturation …

Molecular pathogenesis of euthyroid and toxic multinodular goiter

K Krohn, D Fuhrer, Y Bayer, M Eszlinger… - Endocrine …, 2005 - academic.oup.com
The purpose of this review is to summarize current knowledge of the etiology of euthyroid
and toxic multinodular goiter (MNG) with respect to the epidemiology, clinical characteristics …

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations

HM Targovnik, SA Esperante, CM Rivolta - Molecular and cellular …, 2010 - Elsevier
Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of
approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype …

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 …

Thyroglobulin gene mutations in congenital hypothyroidism

HM Targovnik, CE Citterio, CM Rivolta - Hormone research in …, 2011 - karger.com
Human thyroglobulin (TG) gene is a single copy gene, 270 kb long, that maps on
chromosome 8q24. 2–8q24. 3 and contains an 8.5-kb coding sequence divided into 48 …

Linkage of Familial Euthyroid Goiter to the Multinodular Goiter-1 Locus and Exclusion of the Candidate Genes Thyroglobulin, Thyroperoxidase, and Na+/I …

S Neumann, H Willgerodt, F Ackermann… - The Journal of …, 1999 - academic.oup.com
Iodine deficiency is the most important etiological factor for euthyroid endemic goiter.
However, family and twin pair studies also indicate a genetic predisposition for euthyroid …

Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G→ A [R2223H]) resulting in fetal goitrous hypothyroidism

P Caron, CM Moya, D Malet, VJ Gutnisky… - The Journal of …, 2003 - academic.oup.com
In a 22-yr-old healthy woman, a fetal goiter was diagnosed coincidentally by ultrasound
during the sixth month of gestation, and hypothyroidism was affirmed by a high TSH (336 …

Molecular advances in thyroglobulin disorders

CM Rivolta, HM Targovnik - Clinica Chimica Acta, 2006 - Elsevier
Synthesis of tri-iodothyronine (T3) and thyroxine (T4) follows a metabolic pathway that
depends on the integrity of the thyroglobulin structure. This large glycoprotein is a …

Two distinct compound heterozygous constellations (R277X/IVS34–1G> C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian …

VJ Gutnisky, CM Moya, CM Rivolta… - The Journal of …, 2004 - academic.oup.com
In this study, we have extended our initial molecular studies of a nonconsanguineous family
with two affected siblings and one of their nephews with congenital goiter, hypothyroidism …

Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

S Siffo, E Adrover, CE Citterio, MB Miras… - Molecular and cellular …, 2018 - Elsevier
Thyroid dyshormonogenesis due to thyroglobulin (TG) gene mutations have an estimated
incidence of approximately 1 in 100,000 newborns. The clinical spectrum ranges from …