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Schilddrüsenhormonrezeptor beta

Das THRB-Gen kodiert die beta Untereinheit des Schilddrüsenhormonrezeptors. Mutationen sind für die Schilddrüsenhormonresistenz verantwortlich die sowohl dominant als auch rezessiv vererbt werden kann. Bei einigen Mutationen ist die Resistenz auf die Hypophyse und den Hypothalamus begrenzt.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Selektive hypophysäre Schilddrüsenhormonresistenz
THRB
Autosomal rezessive generalisierte Schilddrüsenhormonresistenz
THRB
Autosomal dominante generalisierte Schilddrüsenhormonresistenz
THRA
THRB

Referenzen:

1.

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2.

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3.

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12.

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13.

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14.

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15.

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16.

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21.

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22.

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23.

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24.

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25.

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26.

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31.

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32.

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33.

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34.

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35.

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36.

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42.

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43.

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44.

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45.

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46.

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47.

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48.

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49.

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50.

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51.

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52.

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53.

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54.

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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55.

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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56.

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57.

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58.

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59.

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60.

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61.

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62.

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64.

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65.

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66.

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67.

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68.

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69.

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70.

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71.

Phillips SA et al. (2001) Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant.

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72.

Ando S et al. (2001) Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance.

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73.

Yang Z et al. (2001) Isoform-specific transcriptional regulation by thyroid hormone receptors: hormone-independent activation operates through a steroid receptor mode of co-activator interaction.

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74.

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75.

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76.

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77.

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78.

Abel ED et al. (1999) Divergent roles for thyroid hormone receptor beta isoforms in the endocrine axis and auditory system.

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79.

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80.

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81.

NCBI article

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82.

OMIM.ORG article

Omim 190160 external link
83.

Orphanet article

Orphanet ID 120101 external link
Update: 14. August 2020
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