|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
To our knowledge, this is the first time that a mutation in the thyroglobulin gene has been described in a patient with endemic simple goiter and further confirms the association between the exon 10 mutation and development of goiter.
|
8936666 |
1996 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.
|
29275168 |
2018 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
From these observations, we conclude that goiter resulting from thyroglobulin mutations is associated with thyroid cancer.
|
16187918 |
2005 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The data suggest that the etiology of this variant type of goiter is a hereditary abnormality in thyroglobulin synthesis, and this type of goiter may be distinguished from common adenomatous goiter by the characteristic morphology of the thyroid gland in addition to clinical findings.
|
8626865 |
1996 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We describe the clinical, biochemical, and molecular findings of a cohort of Argentinean patients with congenital hypothyroidism (CH) and goiter studied to characterize iodide organification and thyroglobulin (TG) defects.
|
20972728 |
2010 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Biallelic mutations in the Tg gene have been identified in several animal species and human patients presenting with goiter and overt or compensated hypothyroidism.
|
16187910 |
2005 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
The objective of this study is to analyze the recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the TG gene in two unrelated families (one Argentinian and another Brazilian) with congenital hypothyroidism, goiter and impairment of TG synthesis.
|
17911408 |
2007 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Disruption of the RAP gene in mice results in a reduced Tg content within the colloid, leading to subclinical hypothyroidism and histological alterations resembling early goiter.
|
18075286 |
2007 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
|
23164529 |
2013 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The shorter thyroglobulin resulting from the novel g.IVS35+1delG was retained within the endoplasmic reticulum of thyrocytes, and together with p.R227X caused severe hypothyroidism with goiter. p.R277X, the most commonly described TG mutation, is caused by a TG exon-7 highly mutation-prone region, and the possibility that some cases were introduced to South America from Galicia cannot be excluded.
|
20410234 |
2010 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Thyroid tissue total RNAs from multinodular goiter (G2) and from hereditary goiter with defective Tg synthesis (JNA) were hybridized with a 5'albumin cDNA probe (F-47), a 3' albumin cDNA probe (B-44) and a thyroglobulin cDNA probe (phTgM3).
|
8370916 |
1993 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies.
|
23457313 |
2013 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
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 |
|
Goiter
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A 3-week old girl presented with a large goiter, serum TSH > 100 mIU/L (reference range: 0.7-5.9 mIU/L); free T<sub>4</sub> < 3.2 pmol/L (reference range: 8.7-16 pmol/L); thyroglobulin (TG) 101 μg/L.
|
29720101 |
2018 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Recently, a role for adenosine A2a receptor (A2aR) in goiter formation was reported in the thyroglobulin-A2aR transgenic mice.
|
24080368 |
2013 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Thyroid volume and goiter appear to be more sensitive indicators of thyroid stress than thyrotropin and Tg in children with long-term excess iodine intakes.
|
29722836 |
2018 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Seventy-one (71) children and adolescents, with a mean age of 11.3 ± 0.3 years (range 4.5-17.8), diagnosed with AT (antibodies against thyroid peroxidase [anti-TPO] and/or thyroglobulin [anti-Tg] ≥60 IU/mL, euthyroidism or treated hypothyroidism and goitre in thyroid gland ultrasonography) were randomized to receive 200 μg l-selenomethionine or placebo daily for 6 months.
|
30306604 |
2019 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Thus, while we have confirmed the finding that the N-terminal CNBr fragment of human goiter thyroglobulin is by itself capable of efficient thyroxine formation when enzymatically iodinated in vitro, we observed that the role of specific tyrosines in the hormone-forming process was different from that in intact thyroglobulin.
|
7793989 |
1995 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
In conclusion, the identification of different molecular defects provided evidence that hereditary goiter associated with abnormal Tg or TPO synthesis is caused by heterogeneous genetic alterations.
|
7549998 |
1994 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
15.5% (11/71) were hypothyroid, 17 (23.9%) were positive for thyroid peroxidase (TPO) and/or thyroglobulin (Tg) antibodies, and 24 (33.8%) had thyromegaly.
|
10776989 |
2000 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Limited proteolysis of FSO2[14C]BzAdo-labeled human goiter Tg with clostripain gave rise to a M(r) 64,000 amino terminal polypeptide carrying almost all of the label.
|
7628349 |
1995 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
In summary, a molecularly confirmed PS patient showed goiter progression accompanied by elevated serum thyroglobulin and increased thyroidal iodine uptake, but normal serum TSH levels and normal iodine organification.
|
20583162 |
2010 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
The serum thyroglobulin (Tg) concentration was low (0.8 ng/ml), whereas ultrasound of the neonate indicated an enlarged thyroid gland (32/15/14 mm).
|
12915634 |
2003 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats.
|
24582622 |
2014 |
|
Goiter
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Low serum thyroglobulin in the proband and his older brother and parental consanguinity was mostly compatible with a thyroglobulin defective synthesis and secretion as the cause of CH and fetal goiter.
|
16405406 |
2005 |