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 …
reticulum (ER), where it acquires N-linked glycosylation and conformational maturation …
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 …
organism, starting in utero. Two forms of permanent primary or thyroidal CH are known …
Iodide handling disorders (nis, tpo, tg, iyd)
HM Targovnik, CE Citterio, CM Rivolta - Best Practice & Research Clinical …, 2017 - Elsevier
Iodide Handling Disorders lead to defects of the biosynthesis of thyroid hormones (thyroid
dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common …
dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common …
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 …
it is involved in a wide range of vital functions throughout the life cycle of all vertebrates …
[HTML][HTML] Disorders of the thyroid gland in infancy, childhood and adolescence
M Segni - Endotext [Internet], 2017 - ncbi.nlm.nih.gov
Thyroid disorders in infancy, childhood and adolescence represent common and usually
treatable endocrine disorders. Thyroid hormones are essential for normal development and …
treatable endocrine disorders. Thyroid hormones are essential for normal development and …
[HTML][HTML] Genome-wide haplotype association study identify TNFRSF1A, CASP7, LRP1B, CDH1 and TG genes associated with Alzheimer's disease in Caribbean …
Alzheimer's disease (AD) is an acquired disorder of cognitive and behavioral impairment. It
is considered to be caused by variety of factors, such as age, environment and genetic …
is considered to be caused by variety of factors, such as age, environment and genetic …
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 …
incidence of approximately 1 in 100,000 newborns. The clinical spectrum ranges from …
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism
X Hu, R Chen, C Fu, X Fan, J Wang, J Qian, S Yi… - Molecular and Cellular …, 2016 - Elsevier
Mutations in Thyroglobulin (TG) are common genetic causes of congenital hypothyroidism
(CH). But the TG mutation spectrum and its frequency in Chinese CH patients have not been …
(CH). But the TG mutation spectrum and its frequency in Chinese CH patients have not been …
Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms
MG Pio, S Siffo, KG Scheps, MF Molina… - Molecular and Cellular …, 2021 - Elsevier
Thyroglobulin (TG) is a large glycosylated protein of 2767 amino acids, secreted by the
thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid …
thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid …
A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and …
MG Pio, MF Molina, S Siffo, A Chiesa… - Molecular and cellular …, 2021 - Elsevier
Thyroglobulin (TG) is a homodimeric glycoprotein synthesized by the thyroid gland. To date,
two hundred twenty-seven variations of the TG gene have been identified in humans …
two hundred twenty-seven variations of the TG gene have been identified in humans …