|
Thyroid Dyshormonogenesis 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Association of the Asp1312Gly Thyroglobulin Gene Polymorphism with Susceptibility to Differentiated Thyroid Cancer in an Iranian Population
|
28345837 |
2017 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
|
27305979 |
2016 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
|
27525530 |
2016 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Against all odds: blended phenotypes of three single-gene defects.
|
26813946 |
2016 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
|
23164529 |
2013 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism.
|
21128992 |
2011 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.
|
20410234 |
2010 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
|
19509106 |
2009 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
|
17532758 |
2007 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.
|
17244789 |
2007 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.
|
16477365 |
2006 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.
|
15769978 |
2005 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
|
14764776 |
2004 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.
|
10404833 |
1999 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
|
10199792 |
1999 |
|
Thyroid Dyshormonogenesis 3
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Congenital Hypothyroidism
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
167 different mutations, many of which are newly discovered, are now known to exist in TG (encoding human thyroglobulin) that can lead to defective thyroid hormone synthesis, resulting in congenital hypothyroidism.
|
30886364 |
2019 |
|
Congenital Hypothyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
We present a patient with congenital hypothyroidism (CH) who presented in newborn screening with elevated serum thyroid-stimulating hormone (TSH), decreased free thyroxine (fT4) and increased thyroglobulin (Tg) concentrations.
|
31541602 |
2019 |
|
Hashimoto Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
A different antibody with unusual features of bispecificity for both TPO and thyroglobulin may play protective role in Hashimoto's disease.
|
30742860 |
2019 |
|
Hashimoto Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Female NOD mice were immunized twice with thyroglobulin and adjuvant to induce the experimental HT model.
|
31729993 |
2019 |
|
Hashimoto Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Thus, we investigated the likely association between Hashimoto's disease and BD through the extra-thyroidal localisation of thyroid-stimulating hormone receptor (TSH-R) and thyroglobulin (TG) in limbic regions of normal and bipolar human adult brain.
|
31197680 |
2019 |
|
Hashimoto Disease
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Elevated TgAb levels are associated with symptom burden in HT patients, suggesting a role of thyroid autoimmunity in clinical manifestations of HT.
|
30332318 |
2019 |
|
Hashimoto Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Effects of exogenous melatonin on clinical and pathological features of a human thyroglobulin-induced experimental autoimmune thyroiditis mouse model.
|
30971749 |
2019 |
|
Congenital Hypothyroidism
|
0.600 |
Biomarker
|
disease |
BEFREE |
The ChEL domain is critical for protein folding and patients with CH due to misfolded TG may present without low serum TG despite the TG gene mutations.
|
29720101 |
2018 |
|
Hashimoto Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Fourteen patients (82.4%) had anti-thyroglobulin antibody and were confirmed to have Hashimoto's thyroiditis through microscopic analysis.
|
29093307 |
2018 |