Associated Papers
Public Cohort Analysis Identifies Thyroglobulin Variants as Hypothyroidism Risk Factors.
Hermanson JN et al.
Biorxiv : the Preprint Server for Biology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Time-resolved interactome profiling deconvolutes secretory protein quality control dynamics.
Wright MT et al.
Molecular Systems Biology, 2024
Conservative Treatment of Fetal Goitrous Hypothyroidism Due to Thyroglobulin Mutations: A Case Report and Literature Review.
Liu S et al.
Maternal-fetal Medicine (wolters Kluwer Health, Inc.), 2023
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Thyroglobulin Interactome Profiling Defines Altered Proteostasis Topology Associated With Thyroid Dyshormonogenesis.
Wright MT et al.
Molecular & Cellular Proteomics : Mcp, 2021
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.
Stoupa A et al.
Frontiers in Endocrinology, 2020
A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.
Watanabe Y et al.
Bmc Medical Genetics, 2018
Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.
Di Jeso B et al.
Endocrine Reviews, 2016
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
Citterio CE et al.
Molecular and Cellular Endocrinology, 2013
Thyroglobulin gene mutations in congenital hypothyroidism.
Targovnik HM et al.
Hormone Research in Paediatrics, 2011
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2010
Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.
Machiavelli GA et al.
Clinical Endocrinology, 2010
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.
Niu DM et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
Pardo V et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
The cholinesterase-like domain of thyroglobulin functions as an intramolecular chaperone.
Lee J et al.
The Journal of Clinical Investigation, 2008
Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations.
Pardo V et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
Caputo M et al.
Clinical Endocrinology, 2007
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
Vono-Toniolo J et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004