Thyroid hormone receptor alpha
The THRA gene encodes the alpha subunit of the nuclear hormone receptor for triiodothyronine. Mutations cause autosomal dominant thyroid hormone resistance.
Genetests:
Related Diseases:
References:
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Gullberg H et al. (2000) Thyroid hormone receptor beta-deficient mice show complete loss of the normal cholesterol 7alpha-hydroxylase (CYP7A) response to thyroid hormone but display enhanced resistance to dietary cholesterol.
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Ng L et al. (2001) Suppression of the deafness and thyroid dysfunction in Thrb-null mice by an independent mutation in the Thra thyroid hormone receptor alpha gene.
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Kaneshige M et al. (2001) A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice.
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Puzianowska-Kuznicka M et al. (2002) Functionally impaired TR mutants are present in thyroid papillary cancer.
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Visser WE et al. (2010) Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.
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Moran C et al. (2015) Resistance to thyroid hormone due to defective thyroid receptor alpha.
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Vlaeminck-Guillem V et al. (2015) TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.
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24. |
Tang Y et al. (2016) Resistance to thyroid hormone α, revelation of basic study to clinical consequences.
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Bochukova E et al. (2012) A mutation in the thyroid hormone receptor alpha gene.
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van Mullem A et al. (2012) Clinical phenotype and mutant TRα1.
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Tylki-Szymańska A et al. (2015) Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
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Bernal J et al. (1978) Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral tissue resistance to thyroid hormone action.
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Laudet V et al. (1991) Genomic organization of the human thyroid hormone receptor alpha (c-erbA-1) gene.
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Koenig RJ et al. (1989) Inhibition of thyroid hormone action by a non-hormone binding c-erbA protein generated by alternative mRNA splicing.
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Miyajima N et al. (1989) Two erbA homologs encoding proteins with different T3 binding capacities are transcribed from opposite DNA strands of the same genetic locus.
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OMIM.ORG article
Omim 190120
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Orphanet article
Orphanet ID 292134
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NCBI article
NCBI 7067
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Wikipedia article
Wikipedia EN (Thyroid_hormone_receptor_alpha)
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Update: Aug. 14, 2020