Graves disease is a hyperthyroidism syndrome associated with goiter, eye disease (orbitopathy), and occasionally a dermopathy referred to as pretibial or localized myxedema. An essential feature of Graves disease are autoantibodies to the thyrotropin receptor (TSHR-Ab) that activate the receptor. That constant unregulated stimulation of the thyroid gland causes excessive hormone synthesis and secretion as well as thyroid growth (causing a diffuse goiter).
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| 1. |
None (1972) Genetics of Graves' disease.
|
| 2. |
MARTIN L et al. (1951) The hereditary and familial aspects of toxic nodular goitre (secondary thyrotoxicosis).
|
| 3. |
Simmonds MJ et al. (2005) Regression mapping of association between the human leukocyte antigen region and Graves disease.
|
| 4. |
Sutherland A et al. (2007) Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility.
|
| 5. |
Brand OJ et al. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease.
|
| 6. |
None (1945) The hereditary and familial aspects of exophthalmic goitre and nodular goitre.
|
| 7. |
None (1990) Receptor autoimmunity in endocrine disorders.
|
| 8. |
Payami H et al. (1989) Relative predispositional effects (RPEs) of marker alleles with disease: HLA-DR alleles and Graves disease.
|
| 9. |
Wit JM et al. (1986) Thyroid-stimulating immunoglobulins and thyroid function tests in two siblings with neonatal thyrotoxicosis.
|
| 10. |
Horwitz DL et al. (1977) Graves' disease associated with familial deficiency of thyroxine-binding globulin.
|
| 11. |
Chu X et al. (2011) A genome-wide association study identifies two new risk loci for Graves' disease.
|
| 12. |
Uno H et al. (1981) Two major genes, linked to HLA and Gm, control susceptibility to Graves' disease.
|
| 13. |
Bahn RS et al. (1993) Pathogenesis of Graves' ophthalmopathy.
|
| 14. |
Shimojo N et al. (1996) Induction of Graves-like disease in mice by immunization with fibroblasts transfected with the thyrotropin receptor and a class II molecule.
|
| 15. |
de Roux N et al. (1996) Analysis of the thyrotropin receptor as a candidate gene in familial Graves' disease.
|
| 16. |
Tomer Y et al. (1997) Mapping of a major susceptibility locus for Graves' disease (GD-1) to chromosome 14q31.
|
| 17. |
None (1976) Humoral and genetic factors in thyrotoxic Graves disease and neonatal thyrotoxicosis.
|
| 20. |
Robertson DM et al. (2003) Retinal microvascular abnormalities in patients treated with external radiation for graves ophthalmopathy.
|
| 21. |
Ueda H et al. (2003) Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.
|
| 22. |
Chen CR et al. (2003) The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim.
|
| 23. |
Hiratani H et al. (2005) Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease.
|
| 24. |
Dechairo BM et al. (2005) Association of the TSHR gene with Graves' disease: the first disease specific locus.
|
| 25. |
Paschke R et al. (1997) The thyrotropin receptor in thyroid diseases.
|
| 26. |
Akamizu T et al. (2003) Association study of autoimmune thyroid disease at 5q23-q33 in Japanese patients.
|
| 27. |
Barbero P et al. (2004) Choanal atresia associated with prenatal methimazole exposure: three new patients.
|
| 28. |
Ban Y et al. (2000) Vitamin D receptor gene polymorphism is associated with Graves' disease in the Japanese population.
|
| 29. |
Donner H et al. (1997) CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus.
|
| 30. |
Vaidya B et al. (1999) The cytotoxic T lymphocyte antigen-4 is a major Graves' disease locus.
|
| 31. |
Chen QY et al. (1999) HLA-DRB1*08, DRB1*03/DRB3*0101, and DRB3*0202 are susceptibility genes for Graves' disease in North American Caucasians, whereas DRB1*07 is protective.
|
| 32. |
Farid NR et al. (1979) A study of human leukocyte D locus related antigens in Graves' disease.
|
| 33. |
Pearce SH et al. (1999) Further evidence for a susceptibility locus on chromosome 20q13.11 in families with dominant transmission of Graves disease.
|
| 34. |
Chen QY et al. (2000) The human leukocyte antigen HLA DRB3*020/DQA1*0501 haplotype is associated with Graves' disease in African Americans.
|
| 36. |
Hermenegildo C et al. (2002) Plasma concentration of asymmetric dimethylarginine, an endogenous inhibitor of nitric oxide synthase, is elevated in hyperthyroid patients.
|
| 37. |
Hadj Kacem H et al. (2003) PDS is a new susceptibility gene to autoimmune thyroid diseases: association and linkage study.
|
| 38. |
Kretowski A et al. (2003) Intercellular adhesion molecule 1 gene polymorphisms in Graves' disease.
|
| 39. |
OMIM.ORG article Omim 275000
|
| 40. |
Wikipedia article Wikipedia EN (Graves'_disease)
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