Associated Papers
Public Cohort Analysis Identifies Thyroglobulin Variants as Hypothyroidism Risk Factors.
Hermanson JN et al.
Biorxiv : the Preprint Server for Biology, 2025
Time-resolved interactome profiling deconvolutes secretory protein quality control dynamics.
Wright MT et al.
Molecular Systems Biology, 2024
Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.
Tanase-Nakao K et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.
Gomes Pio M et al.
Molecular and Cellular Endocrinology, 2023
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
Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C et al.
Thyroid : Official Journal of the American Thyroid Association, 2023
Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio.
Matsuyama M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing.
Watanabe D et al.
Endocrine Journal, 2021
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
Anaplastic Thyroid Cancer Arising from Dyshormonogenetic Goiter: c.3070T>C and Novel c.7070T>C Mutation in the Thyroglobulin Gene.
Yoon JH et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene.
Heo S et al.
Annals of Pediatric Endocrinology & Metabolism, 2019
Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.
Di Jeso B et al.
Endocrine Reviews, 2016
Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.
Narumi S et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
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
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
Molecular advances in thyroglobulin disorders.
Rivolta CM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
[Thyroglobulin gene abnormalities].
Hishinuma A
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005
Naturally occurring mutations in the thyroglobulin gene.
Vono-Toniolo J et al.
Thyroid : Official Journal of the American Thyroid Association, 2005
High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations.
Hishinuma A et al.
Thyroid : Official Journal of the American Thyroid Association, 2005
Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism.
Baryshev M et al.
Journal of Molecular Endocrinology, 2004
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
Vono-Toniolo J et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
ERp29, an unusual redox-inactive member of the thioredoxin family.
Mkrtchian S et al.
Antioxidants & Redox Signaling, 0