Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The TRHR gene encodes the TRH receptor. Mutations are responsible for autosomal recessive generalized thyrotropin-releasing hormone resistance.
| 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 |
| 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
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| 9. |
NCBI article NCBI 7201
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| 10. |
Orphanet article Orphanet ID 120261
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| 11. |
Wikipedia article Wikipedia EN (Thyrotropin-releasing_hormone_receptor)
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