Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Autonomes Schilddrüsenadenom

In autonomen Schilddrüsenadenomen findet man häufig aktivierende somatische Mutationen im TSHR-Gen.

Gliederung

Schilddrüsenkarzinome
Familiäres meduläres Schilddrüsenkarzinom
Nicht-medulläres Schilddrüsenkarzinom

Referenzen:

1.

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2.

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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3.

Rubin CJ et. al. (2010) Whole-genome resequencing reveals loci under selection during chicken domestication.

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4.

Loosfelt H et. al. (1992) Two-subunit structure of the human thyrotropin receptor.

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5.

Akamizu T et. al. (1990) Cloning, chromosomal assignment, and regulation of the rat thyrotropin receptor: expression of the gene is regulated by thyrotropin, agents that increase cAMP levels, and thyroid autoantibodies.

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6.

Murakami M et. al. (1990) Identification of immunogenic regions in human thyrotropin receptor for immunoglobulin G of patients with Graves' disease.

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7.

Heldin NE et. al. (1991) A somatic point mutation in a putative ligand binding domain of the TSH receptor in a patient with autoimmune hyperthyroidism.

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8.

Wadsworth HL et. al. (1990) An insertion in the human thyrotropin receptor critical for high affinity hormone binding.

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9.

Libert F et. al. (1990) Localization of human thyrotropin receptor gene to chromosome region 14q3 by in situ hybridization.

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10.

Rousseau-Merck MF et. al. (1990) Assignment of the human thyroid stimulating hormone receptor (TSHR) gene to chromosome 14q31.

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11.

Misrahi M et. al. (1990) Cloning, sequencing and expression of human TSH receptor.

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12.

Nagayama Y et. al. (1989) Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor.

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13.

Libert F et. al. (1989) Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies.

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14.

Chan JY et. al. (1989) Cloning and characterization of a cDNA that encodes a 70-kDa novel human thyroid autoantigen.

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15.

Thomas JS et. al. (1982) Familial hyperthyroidism without evidence of autoimmunity.

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16.

Bahn RS et. al. (1994) A genomic point mutation in the extracellular domain of the thyrotropin receptor in patients with Graves' ophthalmopathy.

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17.

Van Sande J et. al. (1995) Somatic and germline mutations of the TSH receptor gene in thyroid diseases.

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18.

Kopp P et. al. (1995) Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.

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19.

Duprez L et. al. (1994) Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.

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20.

Feliciello A et. al. (1993) Expression of thyrotropin-receptor mRNA in healthy and Graves' disease retro-orbital tissue.

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21.

Parma J et. al. (1993) Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas.

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22.

Ohmori M et. al. (1996) Cloning of the single strand DNA-binding protein important for maximal expression and thyrotropin (TSH)-induced negative regulation of the TSH receptor.

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23.

de Roux N et. al. (1996) Four families with loss of function mutations of the thyrotropin receptor.

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24.

de Roux N et. al. (1996) A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.

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25.

Russo D et. al. (1997) Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma.

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26.

Kotsa KD et. al. (1997) No association between a thyrotropin receptor gene polymorphism and Graves' disease in the female population.

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27.

Clifton-Bligh RJ et. al. (1997) Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.

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28.

Abramowicz MJ et. al. (1997) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

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29.

Parma J et. al. (1997) Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas.

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30.

Kopp P et. al. (1997) Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281-->isoleucine) in the extracellular domain of the thyrotropin receptor.

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31.

Biebermann H et. al. (1997) Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.

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32.

Holzapfel HP et. al. (1997) Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene.

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33.

Führer D et. al. (1997) Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules.

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34.

Paschke R et. al. (1997) The thyrotropin receptor in thyroid diseases.

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35.

Führer D et. al. (1997) Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism.

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36.

Grüters A et. al. (1998) Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.

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37.

Gagné N et. al. (1998) Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?

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38.

Rodien P et. al. (1998) Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin.

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39.

Simanainen J et. al. (1999) Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52T polymorphic variants.

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40.

Khoo DH et. al. (1999) A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family.

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41.

Graves P et. al. (1999) Post-translational processing of the natural human thyrotropin receptor: demonstration of more than two cleavage sites.

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42.

Trülzsch B et. al. (1999) The thyrotropin receptor mutation database.

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43.

Gabriel EM et. al. (1999) Germline polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter.

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44.

Tonacchera M et. al. (2000) Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.

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45.

Tonacchera M et. al. (2000) Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter.

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46.

Mühlberg T et. al. (2000) Lack of association of nonautoimmune hyperfunctioning thyroid disorders and a germline polymorphism of codon 727 of the human thyrotropin receptor in a European Caucasian population.

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47.

Russo D et. al. (2000) A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH.

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48.

Biebermann H et. al. (2001) The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism.

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49.

Alberti L et. al. (2002) Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.

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50.

Kakinuma A et. al. (2002) Multiple messenger ribonucleic acid transcripts and revised gene organization of the human TSH receptor.

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51.

Jordan N et. al. (2003) The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population.

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52.

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

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53.

Abe E et. al. (2003) TSH is a negative regulator of skeletal remodeling.

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54.

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

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55.

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

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56.

Calebiro D et. al. (2005) Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance.

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57.

Hase H et. al. (2006) TNFalpha mediates the skeletal effects of thyroid-stimulating hormone.

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58.

Chia SY et. al. (2007) Thyroid-stimulating hormone receptor messenger ribonucleic acid measurement in blood as a marker for circulating thyroid cancer cells and its role in the preoperative diagnosis of thyroid cancer.

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