Thyroglobulin
The TG gene encodes thyroglobulin, a tyrosine-rich iodine-storage protein in thyroid follicles. Mutations cause autosomal recessive thyroid dyshormonogenesis 3. Also polymorphisms are associated with autoimmune thyroid diseases.
Genetests:
Related Diseases:
References:
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Targovnik HM et al. (1998) Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.
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2. |
Malthiéry Y et al. (1987) Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA.
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3. |
Kok K et al. () Autosomal recessive inheritance of goiter in Dutch goats.
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4. |
Beamer WG et al. (1987) Inherited congenital goiter in mice.
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5. |
Bergé-Lefranc JL et al. (1985) Localization of the thyroglobulin gene by in situ hybridization to human chromosomes.
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6. |
Brocas H et al. (1985) The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat.
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7. |
Avvedimento VE et al. (1985) Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization.
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8. |
Targovnik HM et al. (1995) A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis.
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9. |
Corral J et al. (1993) Thyroglobulin gene point mutation associated with non-endemic simple goitre.
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10. |
Targovnik HM et al. (1993) A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.
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11. |
Collins JE et al. (2004) Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom.
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12. |
Kim PS et al. (1998) A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases.
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13. |
Hishinuma A et al. (1999) 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.
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14. |
van de Graaf SA et al. (1999) A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.
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15. |
Kim PS et al. (2000) A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat.
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16. |
Targovnik HM et al. (2001) Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene.
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17. |
Caron P et al. (2003) Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.
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18. |
Rivolta CM et al. (2005) 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.
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19. |
Hsiao JY et al. (2007) Association between a C/T polymorphism in exon 33 of the thyroglobulin gene is associated with relapse of Graves' hyperthyroidism after antithyroid withdrawal in Taiwanese.
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20. |
Stefan M et al. (2011) Novel variant of thyroglobulin promoter triggers thyroid autoimmunity through an epigenetic interferon alpha-modulated mechanism.
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21. |
Baas F et al. (1986) The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb.
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22. |
Ban Y et al. (2003) Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease.
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23. |
Park SM et al. (2005) Genetics of congenital hypothyroidism.
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24. |
Lazar V et al. (1999) Expression of the Na+/I- symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes.
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25. |
Baas F et al. (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.
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26. |
Gutnisky VJ et al. (2004) 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.
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27. |
Vono-Toniolo J et al. (2005) Naturally occurring mutations in the thyroglobulin gene.
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28. |
Hishinuma A et al. (2005) High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations.
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29. |
Alzahrani AS et al. (2006) Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene.
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30. |
Kitanaka S et al. (2006) A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.
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31. |
Hishinuma A et al. (2006) Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.
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32. |
Kanou Y et al. (2007) Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.
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33. |
Ieiri T et al. (1991) A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.
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34. |
Targovnik H et al. (1989) Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.
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35. |
None (1987) Merging autosomal dominance and recessivity.
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36. |
Adkison LR et al. (1990) Mutant gene-induced disorders of structure, function and thyroglobulin synthesis in congenital goitre (cog/cog) in mice.
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37. |
Taylor BA et al. (1987) The congenital goiter mutation is linked to the thyroglobulin gene in the mouse.
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38. |
Baas F et al. (1985) The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24.
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39. |
Ricketts MH et al. (1985) Defective splicing of thyroglobulin gene transcripts in the congenital goitre of the Afrikander cattle.
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40. |
Ricketts MH et al. (1987) A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts.
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41. |
Orphanet article
Orphanet ID 168347
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42. |
NCBI article
NCBI 7038
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43. |
OMIM.ORG article
Omim 188450
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44. |
Wikipedia article
Wikipedia EN (Thyroglobulin)
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Update: Aug. 14, 2020