Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

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

external link
2.

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

external link
3.

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

external link
4.

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.

external link
5.

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

external link
6.

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

external link
7.

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.

external link
8.

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.

external link
9.

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

external link
10.

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.

external link
11.

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.

external link
12.

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

external link
13.

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?

external link
14.

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.

external link
15.

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

external link
16.

Lazar V et al. (1999) Expression of the Na+/I- symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes.

external link
17.

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

external link
18.

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

external link
19.

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.

external link
20.

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

external link
21.

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.

external link
22.

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.

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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.

external link
30.

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

external link
31.

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

external link
32.

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

external link
33.

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

external link
34.

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

external link
35.

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

external link
36.

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

external link
37.

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

external link
38.

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

external link
39.

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

external link
40.

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

external link
41.

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

external link
42.

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

external link
43.

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

external link
44.

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

external link
45.

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

external link
46.

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

external link
47.

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

external link
48.

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

external link
49.

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

external link
50.

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

external link
51.

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

external link
52.

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

external link
53.

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

external link
54.

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.

external link
55.

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

external link
56.

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.

external link
57.

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

external link
58.

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

external link
59.

OMIM.ORG article

Omim 603372 external link
60.

Orphanet article

Orphanet ID 120320 external link
61.

NCBI article

NCBI 7253 external link
62.

Wikipedia Artikel

Wikipedia DE (Thyreotropin-Rezeptor) external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz