Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Thyreotropin-Rezeptor

TSH-Rezeptor

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Familiäre Schwangerschaftshyperthyreose
TSHR
Nicht-autoimmunbedingte Hyperthyreose
TSHR
Kongenitale Hypothyreose ohne Struma 1
TSHR
Autonomes Schilddrüsenadenom
TSHR
Schilddrüsenkarzinom mit Thyreotoxikose
TSHR

Referenzen:

1.

Wilkie TM et al. (1993) Identification, chromosomal location, and genome organization of mammalian G-protein-coupled receptors.

[^]
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.

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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.

[^]
20.

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

[^]
21.

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.

[^]
22.

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

[^]
23.

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

[^]
24.

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

[^]
25.

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

[^]
26.

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

[^]
27.

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

[^]
28.

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

[^]
29.

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

[^]
30.

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

[^]
31.

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

[^]
32.

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

[^]
33.

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.

[^]
34.

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

[^]
35.

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

[^]
36.

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.

[^]
37.

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.

[^]
38.

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

[^]
39.

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.

[^]
40.

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.

[^]
41.

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

[^]
42.

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?

[^]
43.

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.

[^]
44.

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

[^]
45.

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

[^]
46.

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

[^]
47.

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

[^]
48.

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.

[^]
49.

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

[^]
50.

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.

[^]
51.

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.

[^]
52.

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

[^]
53.

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

[^]
54.

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

[^]
55.

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

[^]
56.

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

[^]
57.

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

[^]
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.

[^]
59.

OMIM.ORG article

Omim 603372 [^]
60.

Orphanet article

Orphanet ID 120320 [^]
61.

NCBI article

NCBI 7253 [^]
62.

Wikipedia Artikel

Wikipedia DE (Thyreotropin-Rezeptor) [^]
Update: 29. April 2019