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Volumn 80, Issue 11, 1995, Pages 3246-3256

Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors?

Author keywords

[No Author keywords available]

Indexed keywords

BETA ADRENERGIC RECEPTOR; THYROID HORMONE RECEPTOR;

EID: 0028871978     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jcem.80.11.7593433     Document Type: Article
Times cited : (101)

References (40)
  • 1
    • 0023913120 scopus 로고
    • The steroid and thyroid hormone receptor superfamily
    • Evans RM. 1988 The steroid and thyroid hormone receptor superfamily. Science. 240:889-895.
    • (1988) Science , vol.240 , pp. 889-895
    • Evans, R.M.1
  • 2
    • 0027241002 scopus 로고
    • The syndromes of resistance to thyroid hormone
    • Refetoff S, Weiss RE, Usala SJ. 1993 The syndromes of resistance to thyroid hormone. Endocr Rev. 14:348-399.
    • (1993) Endocr Rev , vol.14 , pp. 348-399
    • Refetoff, S.1    Weiss, R.E.2    Usala, S.J.3
  • 4
    • 0026730036 scopus 로고
    • Correlations of language abnormalities with localization of mutations in the β-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: Identification of four new mutations
    • Mixson AJ, Parrilla R, Ransom SC, et al. 1992 Correlations of language abnormalities with localization of mutations in the β-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations. J Clin Endocrinol Metab. 75:1039-1045.
    • (1992) J Clin Endocrinol Metab , vol.75 , pp. 1039-1045
    • Mixson, A.J.1    Parrilla, R.2    Ransom, S.C.3
  • 5
    • 0027469410 scopus 로고
    • The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products
    • Hayashi Y, Janssen OE, Weiss RE, Murata Y, Seo H, Refetoff S. 1993 The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products. J Clin Endocrinol Metab. 76:64-69.
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 64-69
    • Hayashi, Y.1    Janssen, O.E.2    Weiss, R.E.3    Murata, Y.4    Seo, H.5    Refetoff, S.6
  • 6
    • 0027281426 scopus 로고
    • Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene
    • Weiss RE, Weinberg M, Refetoff S. 1993 Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. J Clin Invest. 91:2408-2415.
    • (1993) J Clin Invest , vol.91 , pp. 2408-2415
    • Weiss, R.E.1    Weinberg, M.2    Refetoff, S.3
  • 7
    • 0028350581 scopus 로고
    • Nomenclature of thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: Consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom
    • Beck-Peccoz P, Chatterjee VKK, Chin WW, et al. 1993 Nomenclature of thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom. J Clin Endocrinol Metab. 78:990-993.
    • (1993) J Clin Endocrinol Metab , vol.78 , pp. 990-993
    • Beck-Peccoz, P.1    Chatterjee, V.2    Chin, W.W.3
  • 8
    • 0023941459 scopus 로고
    • Sex-hormone binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: The value of changes following short-term triiodothyronine administration
    • Sarne DH, Refetoff S, Rosenfield RL, Farriaux JP. 1988 Sex-hormone binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes following short-term triiodothyronine administration. J Clin Endocrinol Metab. 66:740-746.
    • (1988) J Clin Endocrinol Metab , vol.66 , pp. 740-746
    • Sarne, D.H.1    Refetoff, S.2    Rosenfield, R.L.3    Farriaux, J.P.4
  • 9
    • 0024370742 scopus 로고
    • Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor β
    • Sakurai A, Takeda K, Ain K, eta!. 1989 Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor β. Proc Natl Acad Sci USA. 86:8977-8981.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 8977-8981
    • Sakurai, A.1    Takeda, K.2    Ain, K.3
  • 11
    • 84995857187 scopus 로고
    • Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor β gene
    • Weiss RE, Stein MA, Duck SC, eta!. 1994 Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor β gene. J Clin Endocrinol Metab. 78:1525-1528.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 1525-1528
    • Weiss, R.E.1    Stein, M.A.2    Duck, S.C.3
  • 12
    • 0026508374 scopus 로고
    • Rapid localization of mutations in the thyroid hormone receptor-β gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance
    • Takeda K, Weiss RE, Refetoff S. 1992 Rapid localization of mutations in the thyroid hormone receptor-β gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. J Clin Endocrinol Metab. 74:712-719.
    • (1992) J Clin Endocrinol Metab , vol.74 , pp. 712-719
    • Takeda, K.1    Weiss, R.E.2    Refetoff, S.3
  • 13
    • 0020554705 scopus 로고
    • The consequences of inappropriate treatment due to failure to recognize the syndrome of pituitary and peripheral tissue resistance to thyroid hormone
    • Refetoff S, Salazar A, Smith TJ, Scherberg NH. 1983 The consequences of inappropriate treatment due to failure to recognize the syndrome of pituitary and peripheral tissue resistance to thyroid hormone. Metabolism. 32:822-834.
    • (1983) Metabolism , vol.32 , pp. 822-834
    • Refetoff, S.1    Salazar, A.2    Smith, T.J.3    Scherberg, N.H.4
  • 14
    • 0019753040 scopus 로고
    • Estradiol-testosterone binding interactions and free plasma estradiol under physiological conditions
    • Moll GW, Rosenfield RL, Helke JH. 1981 Estradiol-testosterone binding interactions and free plasma estradiol under physiological conditions. J Clin Endocrinol Metab. 52:868-874.
    • (1981) J Clin Endocrinol Metab , vol.52 , pp. 868-874
    • Moll, G.W.1    Rosenfield, R.L.2    Helke, J.H.3
  • 15
    • 0027998335 scopus 로고
    • Mutations of CpG dinucleotides located in the triiodothyronine (T 3)-binding domain of the thyroid hormone receptor (TR) β 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
    • Hayashi Y, Sunthomthepvarakul T, Refetoff S. 1994 Mutations of CpG dinucleotides located in the triiodothyronine (T 3)-binding domain of the thyroid hormone receptor (TR) β 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. J Clin Invest. 94:607-615.
    • (1994) J Clin Invest , vol.94 , pp. 607-615
    • Hayashi, Y.1    Sunthomthepvarakul, T.2    Refetoff, S.3
  • 16
    • 0026715866 scopus 로고
    • Thyroid hormone receptor mutants that cause resistance to thyroid hormone: Evidence for receptor competition for DNA sequences in target genes
    • Nagaya T, Madison LD, Jameson JL. 1992 Thyroid hormone receptor mutants that cause resistance to thyroid hormone: evidence for receptor competition for DNA sequences in target genes. J Bioi Chern. 267:13014-13019.
    • (1992) J Bioi Chern , vol.267 , pp. 13014-13019
    • Nagaya, T.1    Madison, L.D.2    Jameson, J.L.3
  • 17
    • 0025860708 scopus 로고
    • The orientation and spacing of core DNA-binding motifs dictate selective transcriptional responses to three nuclear receptors
    • Narr AM, Boutin JM, Lipkin SM, eta!. 1991 The orientation and spacing of core DNA-binding motifs dictate selective transcriptional responses to three nuclear receptors. Cell. 65:1267-1279.
    • (1991) Cell , vol.65 , pp. 1267-1279
    • Narr, A.M.1    Boutin, J.M.2    Lipkin, S.M.3
  • 18
    • 0018751062 scopus 로고
    • Depletion of L-3,5,3'triiodothyronine and L-thyroxine in euthyroid calf serum for use in cell culture studies of the action ofthyroid hormone
    • Samuels HH, Stanley F, Casanova J. 1979 Depletion of L-3,5,3'triiodothyronine and L-thyroxine in euthyroid calf serum for use in cell culture studies of the action ofthyroid hormone. Endocrinology. 105:80-85.
    • (1979) Endocrinology , vol.105 , pp. 80-85
    • Samuels, H.H.1    Stanley, F.2    Casanova, J.3
  • 19
    • 0015847039 scopus 로고
    • A new technique for the assay of infectivity of human adenovirus 5 DNA
    • Graham FL, Vander Eb AJ. 1973 A new technique for the assay of infectivity of human adenovirus 5 DNA. Virology. 52:456-467.
    • (1973) Virology , vol.52 , pp. 456-467
    • Graham, F.L.1    Vander Eb, A.J.2
  • 20
    • 0026495763 scopus 로고
    • New insights on the mechanism(S) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid homone
    • Yen PM, Sugawara A, Refetoff S, Chin WW. 1992 New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid homone. J Clin Invest. 90:1825-1831.
    • (1992) J Clin Invest , vol.90 , pp. 1825-1831
    • Yen, P.M.1    Sugawara, A.2    Refetoff, S.3    Chin, W.W.4
  • 21
    • 0021062415 scopus 로고
    • Filter-binding assay procedure for thyroid hormone receptors
    • Inoue A, Yamakawa J, Yukioka M, Morisawa S. 1983 Filter-binding assay procedure for thyroid hormone receptors. Anal Biochem. 134: 176-183.
    • (1983) Anal Biochem , vol.134 , pp. 176-183
    • Inoue, A.1    Yamakawa, J.2    Yukioka, M.3    Morisawa, S.4
  • 22
    • 0028587335 scopus 로고
    • A novel C-terminal domain in the thyroid hormone receptor selectively mediates thyroid hormone inhibition
    • Flynn TR, Hollenberg AN, Cohen O, eta!. 1994 A novel C-terminal domain in the thyroid hormone receptor selectively mediates thyroid hormone inhibition. J Bioi Chern. 629:32713-32716.
    • (1994) J Bioi Chern , vol.629 , pp. 32713-32716
    • Flynn, T.R.1    Hollenberg, A.N.2    Cohen, O.3
  • 23
    • 0027930409 scopus 로고
    • Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene
    • Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee VKK. 1994 Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. J Clin Invest. 94:506-515.
    • (1994) J Clin Invest , vol.94 , pp. 506-515
    • Adams, M.1    Matthews, C.2    Collingwood, T.N.3    Tone, Y.4    Beck-Peccoz, P.5    Chatterjee, V.K.K.6
  • 24
    • 0027392870 scopus 로고
    • An arginine to histidine mutation in codon 311 of the c-erbAβ gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype
    • Geffner ME, Su F, Ross NS, et a!. 1993 An arginine to histidine mutation in codon 311 of the c-erbAβ gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype. J Clin Invest. 91:538-546.
    • (1993) J Clin Invest , vol.91 , pp. 538-546
    • Geffner, M.E.1    Su, F.2    Ross, N.S.3
  • 25
    • 0027370375 scopus 로고
    • Dominant negative inhibition by mutant thyroid hormone receptors is thyroid hormone response element and receptor isoform specific
    • Zavacki AM, Harney JW, Brent GA, Larsen PR. 1993 Dominant negative inhibition by mutant thyroid hormone receptors is thyroid hormone response element and receptor isoform specific. Mol Endocrinol. 7:1319-1330.
    • (1993) Mol Endocrinol , vol.7 , pp. 1319-1330
    • Zavacki, A.M.1    Harney, J.W.2    Brent, G.A.3    Larsen, P.R.4
  • 26
    • 0025141255 scopus 로고
    • A base mutation of the c-erbAΒ thyroid hormone receptor in a kindred with generalized thyroid hormone resistance
    • Usala SJ, Tennyson GE, Bale AE, eta!. 1990 A base mutation of the c-erbAΒ thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. J Clin Invest. 85:93-100.
    • (1990) J Clin Invest , vol.85 , pp. 93-100
    • Usala, S.J.1    Tennyson, G.E.2    Bale, A.E.3
  • 27
    • 0027271806 scopus 로고
    • Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyoid hormone
    • Mixson AJ, Hauser P, Tennyson G, Renault JC, Bodenner DL, Weintraub BD. 1993 Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyoid hormone. J Clin Invest. 91:2296-2300.
    • (1993) J Clin Invest , vol.91 , pp. 2296-2300
    • Mixson, A.J.1    Hauser, P.2    Tennyson, G.3    Renault, J.C.4    Bodenner, D.L.5    Weintraub, B.D.6
  • 28
    • 0026320853 scopus 로고
    • Characterization of seven novel mutations of the c-erbAΒ gene in unrelated kindreds with generalized thyroid hormone resistance: Evidence for two "hot spot" regions of the ligand binding domain
    • Parrilla R, Mixson AJ, MaPherson J, McClaskey JH, Weintraub BD. 1991 Characterization of seven novel mutations of the c-erbAΒ gene in unrelated kindreds with generalized thyroid hormone resistance: evidence for two "hot spot" regions of the ligand binding domain. J Clin Invest. 88:2123-2130.
    • (1991) J Clin Invest , vol.88 , pp. 2123-2130
    • Parrilla, R.1    Mixson, A.J.2    Mapherson, J.3    McClaskey, J.H.4    Weintraub, B.D.5
  • 29
    • 0027380468 scopus 로고
    • Thyroid hormone resistance syndrome: Correlation of dominant negative activity and location of mutations
    • Nagaya T, Ebefhardt NL, Jameson JL. 1993 Thyroid hormone resistance syndrome: correlation of dominant negative activity and location of mutations. J Clin Endocrinol Metab. 77:982-990.
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 982-990
    • Nagaya, T.1    Ebefhardt, N.L.2    Jameson, J.L.3
  • 30
    • 0028287579 scopus 로고
    • The variable clinical phenotype in thyroid hormone resistance syndrome
    • Beck-Peccoz P, Chatterjee VKK. 1994 The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid. 4:225-232.
    • (1994) Thyroid , vol.4 , pp. 225-232
    • Beck-Peccoz, P.1    Chatterjee, V.K.K.2
  • 32
    • 0028263817 scopus 로고
    • Divergent dimerization properties of mutant β1 thyroid hormone receptors are associated with different dominant negative activities
    • Hao E, Menke JB, Smith AM, eta!. 1994 Divergent dimerization properties of mutant β1 thyroid hormone receptors are associated with different dominant negative activities. Mol Endocrinol. 8:841-851.
    • (1994) Mol Endocrinol , vol.8 , pp. 841-851
    • Hao, E.1    Menke, J.B.2    Smith, A.M.3
  • 33
    • 0027528837 scopus 로고
    • Identification of a novel mutation in the gene encoding the β-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone
    • Mixson AJ, Renault JC, Ransom S, Bodenner DL, Weintraub BD. 1993 Identification of a novel mutation in the gene encoding the β-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone. Clin Endocrinol OxD. 38: 227-234.
    • (1993) Clin Endocrinol (Oxd , vol.38 , pp. 227-234
    • Mixson, A.J.1    Renault, J.C.2    Ransom, S.3    Bodenner, D.L.4    Weintraub, B.D.5
  • 34
    • 0028122988 scopus 로고
    • Regulation of retinoid signaling by receptor polarity and allosteric control of ligand binding
    • Kurokawa R, Direnzo J, Boehm M, eta!. 1994 Regulation of retinoid signaling by receptor polarity and allosteric control of ligand binding. Nature. 371:528-531.
    • (1994) Nature , vol.371 , pp. 528-531
    • Kurokawa, R.1    Direnzo, J.2    Boehm, M.3
  • 35
    • 0028170232 scopus 로고
    • Vitamin D3-thyroid hormone receptor heterodimer polarity directs ligand sensitivity of transactivation
    • Schrader M, Muller KM, Nayeri S, Kahlen J-P, Carlberg C. 1994 Vitamin D3-thyroid hormone receptor heterodimer polarity directs ligand sensitivity of transactivation. Nature (Lond). 370:382-386.
    • (1994) Nature (Lond) , vol.370 , pp. 382-386
    • Schrader, M.1    Muller, K.M.2    Nayeri, S.3    Kahlen, J.-P.4    Carlberg, C.5
  • 36
    • 0027359451 scopus 로고
    • Interaction of human Β1 thyroid hormone receptor and its mutants with DNA and retinoid X receptor. T3 response element-dependent dominant negative potency
    • Meier CA, Parkinson C, Chen A, et a!. 1993 Interaction of human Β1 thyroid hormone receptor and its mutants with DNA and retinoid X receptor. T3 response element-dependent dominant negative potency. J Clin Invest. 92:1986-1993.
    • (1993) J Clin Invest , vol.92 , pp. 1986-1993
    • Meier, C.A.1    Parkinson, C.2    Chen, A.3
  • 37
    • 0027324301 scopus 로고
    • Thyroid hormone receptor dimerization is required for dominant negative inhibition by mutations that cause thyroid hormone resistance
    • Nagaya T, Jameson JL. 1993 Thyroid hormone receptor dimerization is required for dominant negative inhibition by mutations that cause thyroid hormone resistance. J Bioi Chern. 268:15766-15771.
    • (1993) J Bioi Chern , vol.268 , pp. 15766-15771
    • Nagaya, T.1    Jameson, J.L.2
  • 38
    • 0027978768 scopus 로고
    • Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone β-receptors in thyroid hormone resistance syndrome
    • Collingwood TN, Adams M, Tone Y, Chatterjee VKK. 1994 Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone β-receptors in thyroid hormone resistance syndrome. Mol Endocrinol. 8:1262-1277.
    • (1994) Mol Endocrinol , vol.8 , pp. 1262-1277
    • Collingwood, T.N.1    Adams, M.2    Tone, Y.3    Chatterjee, V.K.K.4
  • 39
    • 0027219428 scopus 로고
    • The conserved ninth C-terminal heptad in thyroid hormone and retinoic acid receptors mediates diverse responses by affecting heterodimer but not homodimer formation
    • Au-Fliegner M, Helmer E, Casanova J, Raaka BM, Samuels HT. 1993 The conserved ninth C-terminal heptad in thyroid hormone and retinoic acid receptors mediates diverse responses by affecting heterodimer but not homodimer formation. Mol Cell Bioi. 13:5725-5737.
    • (1993) Mol Cell Bioi , vol.13 , pp. 5725-5737
    • Au-Fliegner, M.1    Helmer, E.2    Casanova, J.3    Raaka, B.M.4    Samuels, H.T.5
  • 40
    • 0009017239 scopus 로고
    • A registry for resistance to Thyroid Hormone. 1994 J Clin Endocrinol Metab. 79:1560 (Announcement).
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1560


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