| Entry |
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| Name |
Mutation-inactivated THRB to thyroid hormone signaling pathway
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| Definition |
(SLC16A10,SLC16A2) -> T3 // THRB* -- RXR => (MYH6,ATP2A2) |
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| Expanded |
(117247,6567) -> C02465 // 7068v1 -- (6256,6257,6258) => (4624,488) |
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| Class |
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| Type |
Variant
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| Disease |
| H00249 | Thyroid hormone resistance syndrome |
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| Gene |
| 117247 | SLC16A10; solute carrier family 16 member 10 |
| 6567 | SLC16A2; solute carrier family 16 member 2 |
| 7068 | THRB; thyroid hormone receptor beta |
| 6256 | RXRA; retinoid X receptor alpha |
| 6257 | RXRB; retinoid X receptor beta |
| 6258 | RXRG; retinoid X receptor gamma |
| 4624 | MYH6; myosin heavy chain 6 |
| 488 | ATP2A2; ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
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| Variant |
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| Metabolite |
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| Reference |
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| Authors |
Jameson JL |
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| Title |
Mechanisms by which thyroid hormone receptor mutations cause clinical syndromes of resistance to thyroid hormone. |
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| Journal |
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| Reference |
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| Authors |
Dumitrescu AM, Refetoff S |
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| Title |
Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action |
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| Journal |
Endotext (2000) |
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| Reference |
|
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| Authors |
Singh BK, Yen PM |
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| Title |
A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRalpha and TRbeta isoforms. |
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| Journal |
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| Reference |
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| Authors |
Gloss B, Sayen MR, Trost SU, Bluhm WF, Meyer M, Swanson EA, Usala SJ, Dillmann WH |
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| Title |
Altered cardiac phenotype in transgenic mice carrying the delta337 threonine thyroid hormone receptor beta mutant derived from the S family. |
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| Journal |
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| LinkDB |
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