Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Schilddrüsenhormonrezeptor alpha

Das THRA-Gen kodiert die alpha Untereinheit des Schilddrüsenhormonrezeptors. Mutationen sind für die autosomal dominante Schilddrüsenhormonresistenz verantwortlich.

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

Verknüpfte Erkrankungen:

Kongenitale Hypothyreose ohne Struma 6
THRA
Autosomal dominante generalisierte Schilddrüsenhormonresistenz
THRA
THRB

Referenzen:

1.

Refetoff S et al. (1972) Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone.

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2.

van Gucht ALM et al. (2017) Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha.

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3.

Moran C et al. (2015) Resistance to thyroid hormone due to defective thyroid receptor alpha.

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4.

Vlaeminck-Guillem V et al. (2015) TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.

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5.

Tang Y et al. (2016) Resistance to thyroid hormone α, revelation of basic study to clinical consequences.

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6.

Bochukova E et al. (2012) A mutation in the thyroid hormone receptor alpha gene.

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7.

van Mullem A et al. (2012) Clinical phenotype and mutant TRα1.

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8.

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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9.

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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10.

Laudet V et al. (1991) Genomic organization of the human thyroid hormone receptor alpha (c-erbA-1) gene.

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11.

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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12.

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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13.

Sakurai A et al. (1989) Expression of three forms of thyroid hormone receptor in human tissues.

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14.

Rider SH et al. (1987) RFLP for the human erb-A1 gene.

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15.

Mathieu-Mahul D et al. (1985) An EcoRI restriction fragment length polymorphism (RFLP) in the human c-erb A locus.

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16.

Nakai A et al. (1988) Characterization of a thyroid hormone receptor expressed in human kidney and other tissues.

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17.

Mitelman F et al. (1986) High resolution chromosome analysis of constitutional and acquired t(15;17) maps c-erbA to subband 17q11.2.

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18.

Ichikawa K et al. (1987) Characterization of nuclear thyroid hormone receptors of cultured skin fibroblasts from patients with resistance to thyroid hormone.

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19.

Thompson CC et al. (1987) Identification of a novel thyroid hormone receptor expressed in the mammalian central nervous system.

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20.

Benbrook D et al. (1987) A novel thyroid hormone receptor encoded by a cDNA clone from a human testis library.

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21.

Jhanwar SC et al. (1985) Germ-line chromosomal localization of human C-Erb-A oncogene.

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22.

Sheer D et al. (1985) Localization of the oncogene c-erbA1 immediately proximal to the acute promyelocytic leukaemia breakpoint on chromosome 17.

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23.

Zabel BU et al. (1984) Cellular homologs of the avian erythroblastosis virus erb-A and erb-B genes are syntenic in mouse but asyntenic in man.

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24.

Menezes-Ferreira MM et al. (1984) Decreased nuclear uptake of [125I]triiodo-L-thyronine in fibroblasts from patients with peripheral thyroid hormone resistance.

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25.

Jansson M et al. (1983) Isolation and characterization of multiple human genes homologous to the oncogenes of avian erythroblastosis virus.

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26.

Spurr NK et al. (1984) Chromosomal localisation of the human homologues to the oncogenes erbA and B.

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27.

Debuire B et al. (1984) Sequencing the erbA gene of avian erythroblastosis virus reveals a new type of oncogene.

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28.

Ferro MT et al. (1981) Constitutional t(15;17)

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29.

Dayton AI et al. (1984) A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia.

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30.

Anderson LA et al. (1993) High-density genetic map of the BRCA1 region of chromosome 17q12-q21.

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31.

Nagaya T et al. (1996) Heterodimerization preferences of thyroid hormone receptor alpha isoforms.

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32.

McCabe CJ et al. (1999) Thyroid receptor alpha1 and alpha2 mutations in nonfunctioning pituitary tumors.

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33.

Iskaros J et al. (2000) Thyroid hormone receptor gene expression in first trimester human fetal brain.

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34.

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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35.

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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36.

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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37.

Puzianowska-Kuznicka M et al. (2002) Functionally impaired TR mutants are present in thyroid papillary cancer.

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38.

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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39.

OMIM.ORG article

Omim 190120 [^]
40.

Orphanet article

Orphanet ID 292134 [^]
41.

NCBI article

NCBI 7067 [^]
Update: 9. Mai 2019