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 |
Verknüpfte Erkrankungen:
Referenzen:
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15. |
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23. |
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24. |
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25. |
Yagi H et al. (1997) Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity.
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26. |
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32. |
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33. |
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34. |
Weiss RE et al. (1994) A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
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35. |
Hayashi Y et al. (1994) Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.
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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. |
Takeda K et al. (1991) Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.
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50. |
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51. |
Tory K et al. (1992) A genetic linkage map of 96 loci on the short arm of human chromosome 3.
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52. |
Puzianowska-Kuznicka M et al. (2002) Functionally impaired TR mutants are present in thyroid papillary cancer.
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53. |
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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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. |
Asteria C et al. (1999) Prenatal diagnosis of thyroid hormone resistance.
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62. |
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63. |
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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. |
Behr M et al. (1992) A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance.
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70. |
Cugini CD et al. (1992) An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity.
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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. |
Hashimoto K et al. (2001) An unliganded thyroid hormone receptor causes severe neurological dysfunction.
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75. |
Ng L et al. (2001) A thyroid hormone receptor that is required for the development of green cone photoreceptors.
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76. |
Kaneshige M et al. (2000) Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone.
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77. |
Safer JD et al. (1999) The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone.
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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. |
Koh YS et al. (1999) Linkage of the nuclear hormone receptor genes NR1D2, THRB, and RARB: evidence for an ancient, large-scale duplication.
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80. |
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81. |
NCBI article
NCBI 7068
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82. |
OMIM.ORG article
Omim 190160
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83. |
Orphanet article
Orphanet ID 120101
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Update: 14. August 2020