Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyperthyreose

Als Hyperthyreose wird eine Krankheit mit zu starker Sekretion von Schilddrüsenhormon bezeichnet. Genetisch bedingte Hyperthyreosen können mit oder ohne Struma einhergehen.

Gliederung

Störungen des Schilddrüsenhormonsystems
Hyperthyreose
Basedow-Krankheit
GC
Familiäre Schwangerschaftshyperthyreose
TSHR
McCune-Albright-Syndrom
GNAS
Neigung zur thyreotoxischen periodischen Paralyse 1
CACNA1S
Nicht-autoimmunbedingte Hyperthyreose
TSHR
Hypothyreose
Neigung zu autoimmunbedingten Schilddrüsenerkrankungen
Schilddrüsenhormonresistenz
Schilddrüsenkarzinome

Referenzen:

1.

Kung AW et. al. (2004) Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis.

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2.

Pani MA et. al. (2002) A polymorphism within the vitamin D-binding protein gene is associated with Graves' disease but not with Hashimoto's thyroiditis.

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3.

Chen CR et. al. (2003) The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim.

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4.

Hiratani H et. al. (2005) Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease.

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5.

Dechairo BM et. al. (2005) Association of the TSHR gene with Graves' disease: the first disease specific locus.

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6.

Ueda H et. al. (2003) Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.

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7.

Akamizu T et. al. (2003) Association study of autoimmune thyroid disease at 5q23-q33 in Japanese patients.

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8.

Barbero P et. al. (2004) Choanal atresia associated with prenatal methimazole exposure: three new patients.

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9.

Vaidya B et. al. (1999) The cytotoxic T lymphocyte antigen-4 is a major Graves' disease locus.

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10.

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.

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11.

Chen QY et. al. (2000) The human leukocyte antigen HLA DRB3*020/DQA1*0501 haplotype is associated with Graves' disease in African Americans.

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12.

Ban Y et. al. (2000) Vitamin D receptor gene polymorphism is associated with Graves' disease in the Japanese population.

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13.

Marcocci C et. al. (2001) Comparison of the effectiveness and tolerability of intravenous or oral glucocorticoids associated with orbital radiotherapy in the management of severe Graves' ophthalmopathy: results of a prospective, single-blind, randomized study.

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14.

Hermenegildo C et. al. (2002) Plasma concentration of asymmetric dimethylarginine, an endogenous inhibitor of nitric oxide synthase, is elevated in hyperthyroid patients.

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15.

Robertson DM et. al. (2003) Retinal microvascular abnormalities in patients treated with external radiation for graves ophthalmopathy.

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16.

Kretowski A et. al. (2003) Intercellular adhesion molecule 1 gene polymorphisms in Graves' disease.

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17.

MARTIN L et. al. (1951) The hereditary and familial aspects of toxic nodular goitre (secondary thyrotoxicosis).

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18.

Simmonds MJ et. al. (2005) Regression mapping of association between the human leukocyte antigen region and Graves disease.

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19.

Sutherland A et. al. (2007) Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility.

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20.

Brand OJ et. al. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease.

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21.

None (1945) The hereditary and familial aspects of exophthalmic goitre and nodular goitre.

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22.

Chu X et. al. (2011) A genome-wide association study identifies two new risk loci for Graves' disease.

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23.

Barbesino G et. al. (1998) Linkage analysis of candidate genes in autoimmune thyroid disease. II. Selected gender-related genes and the X-chromosome. International Consortium for the Genetics of Autoimmune Thyroid Disease.

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24.

Heward JM et. al. (1998) Linkage disequilibrium between the human leukocyte antigen class II region of the major histocompatibility complex and Graves' disease: replication using a population case control and family-based study.

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25.

Ryan DP et. al. (2010) Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

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26.

Kusakabe T et. al. (1976) Thyrotoxic periodic paralysis: a peculiar case with unusual dystonic behavior and variable relations of paralysis to serum potassium levels.

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27.

None (1985) Familial "hashitoxic' periodic paralysis.

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28.

Au KS et. al. (1972) Thyrotoxic periodic paralysis. Periodic variation in the muscle calcium pump activity.

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29.

Yeung RT et. al. (1974) Thyrotoxic periodic paralysis. Effect of propranolol.

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30.

Layzer RB et. al. (1974) Periodic paralysis caused by abuse of thyroid hormone.

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31.

Bernard JD et. al. (1972) Thyrotoxic periodic paralysis in Californians of Mexican and Filipino ancestry.

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32.

McFadzean AJ et. al. (1967) Periodic paralysis complicating thyrotoxicosis in Chinese.

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33.

Kilpatrick RE et. al. (1994) Thyrotoxic hypokalemic periodic paralysis: report of four cases in black American males.

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34.

Sternberg D et. al. (2003) Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.

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35.

Jurkat-Rott K et. al. (2004) Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.

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36.

None (2006) Clinical review: Thyrotoxic periodic paralysis: a diagnostic challenge.

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