Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Thyrotropin-releasing hormone receptor

The TRHR gene encodes the TRH receptor. Mutations are responsible for autosomal recessive generalized thyrotropin-releasing hormone resistance.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Generalized thyrotropin-releasing hormone resistance
TRHR

References:

1.

Yamada M et al. (1993) Assignment of human thyrotropin-releasing hormone (TRH) receptor gene to chromosome 8.

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2.

Matre V et al. (1993) Molecular cloning of a functional human thyrotropin-releasing hormone receptor.

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3.

Bonomi M et al. (2009) A family with complete resistance to thyrotropin-releasing hormone.

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4.

Zhao D et al. (1992) Molecular cloning of a complementary deoxyribonucleic acid encoding the thyrotropin-releasing hormone receptor and regulation of its messenger ribonucleic acid in rat GH cells.

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5.

Straub RE et al. (1990) Expression cloning of a cDNA encoding the mouse pituitary thyrotropin-releasing hormone receptor.

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6.

Lossie AC et al. (1993) Localization of thyrotropin-releasing hormone receptor and thyrotroph embryonic factor on mouse chromosome 15.

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7.

Morrison N et al. (1994) Assignment of the gene encoding the human thyrotropin-releasing hormone receptor to 8q23 by fluorescence in situ hybridization.

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8.

OMIM.ORG article

Omim 188545 external link
9.

NCBI article

NCBI 7201 external link
10.

Orphanet article

Orphanet ID 120261 external link
11.

Wikipedia article

Wikipedia EN (Thyrotropin-releasing_hormone_receptor) external link
Update: Aug. 14, 2020
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