Journal Article10.1016/J.MCE.2019.110638
Defects in protein folding in congenital hypothyroidism.
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TL;DR: The continuous study of thyroid gene mutations with the application of new technologies will be useful for the understanding of the intrinsic mechanisms related to CH as several points on the development of this disease remain to be elucidated.
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About: This article is published in Molecular and Cellular Endocrinology. The article was published on 05 Feb 2020. The article focuses on the topics: Thyroid & Congenital hypothyroidism.
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Citations
Structure and genetic variants of thyroglobulin: Pathophysiological implications.
TL;DR: In this article, the authors discuss remarkable advances in the understanding of the TG architecture and the pathophysiology of CH associated with TG defects, providing new insights for the management of congenital disorders as well as counseling benefits for families with a history of TG abnormalities.
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Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism
TL;DR: Molecular genetic studies are less invasive, but as useful in making a definitive diagnosis in the individual patient as well as being the first feasible step to study the etiology and epidemiology of the so far only putative defects of thyroid hormone biosynthesis leading to congenital hypothyroidism.
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The earliest site of iodination in rat thyroglobulin is residue number 5
Fabrizio Gentile,Giuseppe Palumbo +1 more
- 01 Jan 1989
TL;DR: In this article, the NH2-terminal residue of rat thyroglobulin was found to be the first residue to be iodinated in the presence of tyrosyl residues.
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The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism
Rui-Jia Zhang,Feng Sun,Feng Chen,Ya Fang,Chen-Yan Yan,Chang-Run Zhang,Ying-Xia Ying,Zheng Wang,Cao-Xu Zhang,Feng-Yao Wu,Bing Han,Jun Liang,Shuang-Xia Zhao,Huai-Dong Song +13 more
TL;DR: The findings indicated that the residual enzymatic activity of TPO was correlated with clinical phenotypes of CH patients with TPO biallelic mutations.
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Perinatal risk factors for congenital hypothyroidism: A retrospective cohort study performed at a tertiary hospital in China.
TL;DR: Perinatal factors should be considered during the diagnosis and treatment of CH, and significant associations were found with regard to parity and the risk of CH in the offspring.
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References
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TL;DR: From a process involved in cell wall synthesis in archaea and some bacteria, N-linked glycosylation has evolved into the most common covalent protein modification in eukaryotic cells.
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Thyroid Hormone Regulation of Metabolism
TL;DR: The role of TH in regulating metabolic pathways has led to several new therapeutic targets for metabolic disorders and understanding the mechanisms and interactions of the various TH signaling pathways in metabolism will improve the likelihood of identifying effective and selective targets.
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`The HSP70 chaperone machinery: J proteins as drivers of functional specificity
TL;DR: Heat shock 70 kDa proteins are ubiquitous molecular chaperones that function in a myriad of biological processes, modulating polypeptide folding, degradation and translocation across membranes, and protein–protein interactions.
Molecular aspects of thyroid hormone actions.
TL;DR: Genetically engineered knockin mouse models provide valuable tools to ascertain further the molecular actions of unliganded TRs in vivo that could underlie the pathogenesis of hypothyroidism.
The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance.
Orsolya Dohán,Antonio De la Vieja,Viktoriya Paroder,Claudia A. Riedel,Mona Artani,Mia D. Reed,Christopher S. Ginter,Nancy Carrasco +7 more
TL;DR: The discovery of endogenous NIS expression in more than 80% of human breast cancer samples has raised the possibility that radioiodide may be a valuable novel tool in breast cancer diagnosis and treatment.
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