16D Biblio

1. Refetoff S, Weiss RE, Usala SJ. 1993 The syndromes of resistance to thyroid hormone. Endocr Rev. 14:348-399.

2. Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, Tunka H, Seo H, Refetoff S. 1996 Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptors a or ß genes may be due to a defective co-factor. J Clin Endocrinol Metab. 81:4196-4203.

3. Weintraub BD, Gershengorn MC, Kourides IA, Fein H. 1981 Inappropriate secretion of thyroid stimulating hormone. Ann Intern Med. 95:339-351.

4. Kaplan MM, Swartz SL, Larsen PR. 1981 Partial peripheral resistance to thyroid hormone. Am J Med. 70:1115-1121.

5. Usala SJ. 1991 Molecular diagnosis and characterization of thyroid hormone resistance syndromes. Thyroid. 1:361-367.

6. Beck-Peccoz P, Roncoroni R, Mariotti S, Medri G, Marcocci C, Brabant G, Forloni F, Pinchera A, Faglia G. 1990 Sex hormone-binding globulin measurement in patients with inappropriate secretion of thyrotropin (IST): Evidence against selective pituitary thyroid hormone resistance in nonneoplastic IST. J Clin Endocrinol Metab. 71:19-25.

7. Beck-Peccoz P, Chatterjee VKK. 1994 The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid. 4:225-232.

8. Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK. 1994 Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone: identification of thirteen novel mutations in the thyroid hormone receptor ß gene. J Clin Invest. 94:506-515.

9. Ando S, Sarlis NJ, Krishan J, Feng X, Refetoff S, Zhang MQ, Olfield EH, Yen PM. 2001 Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance. Mol Endocrinol. 15:1529-1538.

10. Ando S, Sarlis NJ, Oldfield EH, Yen PM. 2001 Somatic mutation of TRbeta can cause a defect in negative regulation of TSH in a TSH-secreting pituitary tumor. J Clin Endocrinol Metab. 86:5572-5576.

11. Weiss RE, Balzano S, Scherberg NH, Refetoff S. 1990 Neonatal detection of generalized resistance to thyroid hormone. JAMA. 264:2245-2250.

12. LaFranchi SH, Snyder DB, Sesser DE, Skeels MR, Singh N, Brent GA, Nelson JC. 2003 Follow-up of newborns with elevated screening T4 concentrations. J Pediatr. 143:296-301.

13. Feng W, Ribeiro RCJ, Wagner RL, Nguyen H, Apriletti JW, Fletterick RJ, Baxter JD, Kushner PJ, West BL. 1998 Hormone-dependent coactivator binding to a hydrophobic cleft on nuclear receptors. Science. 280:1747-1749.

14. Chen JD, Evans RM. 1995 A transcriptional co-repressor that interacts with nuclear hormone receptors. Nature. 377:454-457.

15. Hörlein AJ, Näär AM, Heinzel T, Torchia J, Gloss B, Kurokawa R, Ryan A, Kamei Y, Södersrtöm M, Glass CK, Rosenfeld MG. 1995 Ligand-independent repression by the thyroid hormone receptor mediated by a nuclear receptor co-repressor. Nature. 377:397-404.

16. Busch K, Martin B, Baniahmad A, Renkawitz R, Muller M. 1997 At least three subdomains of v-erbA are involved in its silencing function. Mol Endocrinol. 11:379-389.

17. Forman BM, Samuels HH. 1990 Interactions among a subfamily of nuclear hormone receptors: the regulatory zipper model. Mol Endocrinol. 4:1293-1301.

18. O'Donnell AL, Koenig RJ. 1990 Mutational analysis identifies a new functional domain of the thyroid hormone receptor. Mol Endocrinol. 4:715-720.

19. Kurokawa R, Yu VC, Naar A, Kyakumoto S, Han Z, Silverman S, Rosenfeld MG, Glass CK. 1993 Differential orientations of the DNA-binding domain and carboxy-terminal dimerization interface regulate binding site selection by nuclear receptor heterodimers. Genes Develop. 7:1423-1435.

20. 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 Cel Endocrinol. 13:5725-5737.

21. Beck-Peccoz P, Chatterjee VKK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD. 1993 Nomenclature of thyroid hormone receptor ß-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.

22. Tone Y, Collingwood TN, Adams M, Chatterjee VK. 1994 Functional analysis of a transactivation domain in the thyroid hormone ß receptor. J Biol Chem. 269:31157-31161.

23. Baniahmad A, Leng X, Burris TP, Tsai SY, Tsai M-J, O'Malley BW. 1995 The t4 activation domain of the thyroid hormone receptor is required for release of a putative corepressor(s) necessary for transcriptional silencing. Mol Cell Biol. 15:76-86.

24. Hamy F, Helbeque NJ, Henichart P. 1992 Comparison between synthetic nuclear localisation signal peptides from the steroid thyroid hormone receptor superfamily. Biochem Byophys Res Commun. 183:289-293.

25. Wurtz J-M, Bourguet W, Renaud J-P, Vivat V, Chambon P, Moras D. 1966 A canonical strusture for the ligand-binding domain of the nuclear receptors. Nature Struct Biol. 3:87-94.

26. Refetoff S, Weiss RE. 1997 Resistance to thyroid hormone. In: Thakker TV, eds. Molecular genetics of endocrine disorders. London: Chapman & Hill; 85-122.

27. Refetoff S, DeWind LT, DeGroot LJ. 1967 Familial syndrome combining deaf-mutism, stippled epiphyses, goiter, and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 27:279-294.

28. Takeda K, Sakurai A, DeGroot LJ, Refetoff S. 1992 Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-ß gene. J Clin Endocrinol Metab. 74:49-55.

29. Ono S, Schwartz ID, Mueller OT, Root AW, Usala SJ, Bercu BB. 1991 Homozygosity for a "dominant negative" thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone. J Clin Endocrinol Metab. 73:990-994.

30. Frank-Raue K, Höppner W, Boll HU, Raue F. 1998 (abstract) Severe form of thyroid hormone resistance in a homozygous mutation in the thyroid hormone receptor ß gene. Exp Clin Endocrinol Diabetes. 106 (suppl 1):S16.

31. Usala SJ, Bale AE, Gesundheit N, Weinberger C, Lash RW, Wondisford FE, McBride OW, Weintraub BD. 1988 Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbAb gene. Mol Endocrinol. 2:1217-1220.

32. Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, Seino S, Bell GI, Refetoff S, DeGroot LJ. 1989 Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor b. Proc Natl Acad Sci (USA). 86:8977-8981.

33. Usala SJ, Tennyson GE, Bale AE, Lash RW, Gesundheit N, Wondisford FE, Accili D, Hauser P, Weintraub BD. 1990 A base mutation of the c-erbAb thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. J Clin Invest. 85:93-100.

34. 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: Analysis of 15 families. J Clin Invest. 91:2408-2415.

35. Kaneshige M, Suzuki H, Kaneshige K, Cheng J, Wimbrow H, Barlow C, Willingham MC, Cheng S-y. 2001 A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice. Proc Natl Acad Sci (USA). 98:15095-15100.

36. Tinnikov A, Nordstrom K, Thoren P, Kindblom JM, Malin S, Rozell B, Adams M, Rajanayagam O, Pettersson S, Ohlsson C, Chatterjee K, Vennstrom B. 2002 Retardation of post-natal development caused by a negatively acting thyroid hormone receptor alpha1. Embo J. 21:5079-5087.

37. Liu YY, Schultz JJ, Brent GA. 2003 A thyroid hormone receptor alpha gene mutation (P398H) Is associated with visceral adiposity and impaired catecholamine-stimulated lipolysis in mice. J Biol Chem. 278:38913-38920.

38. McCabe CJ, Gittoes NJ, Sheppard MC, Franklyn JA. 1999 Thyroid receptor a1 and a2 mutations in nonfunctioning pituitary tumors. J Clin Endocrinol Metab. 84:649-653.

39. Sadow P, Reutrakul S, Weiss RE, Refetoff S. 2000 Resistnace to thyroid hormone in the absence of mutations in the thyroid hormone receptor genes. Curr Opin Endocrinol Diabetes. 7:253-259.

40. Mitsuhashi T, Tennyson GE, Nikodem VM. 1988 Alternative splicing generates messages encoding rat c-erbA proteins that do not bind thyroid hormones. Proc Natl Acad Sci USA. 85:5804-5805.

41. Macchia PE, Takeuchi Y, Kawai T, Cua K, Gauthier K, Chassande O, Seo H, Hayashi Y, Samarut J, Murata Y, Weiss RE, Refetoff S. 2001 Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha. Proc Natl Acad Sci (USA). 98:349-354.

42. Chassande O, Fraichard A, Gauthier K, Flamant F, Legrand C, Savatier P, Laudet V, Samarut J. 1997 Identification of transcripts initiated from an internal promoter in the c-erb-Aa locus that encode inhibitors of retinoic acid receptor-a and triiodothyronine receptor activities. Mol Endocrinol. 11:1278-1290.

43. Williams GR. 2000 Cloning and Characterization of Two Novel Thyroid Hormone Receptor beta Isoforms. Mol Cell Biol. 20:8329-8342.

44. Gauthier K, Plateroti M, Harvey CB, Williams GR, Weiss RE, Refetoff S, Willott JF, Sundin V, Roux J-P, Malaval L, Hara M, Samarut J, Chassande O. 2001 Genetic analysis reveals different functions for the products of the thyroid hormone receptor alpha locus. Mol Cell Biol. 21:4748-4760.

45. Casas F, Rochard P, Rodier A, Cassar-Malek I, Marchal-Victorion S, Wiesner RJ, Cabello G, Wrutniak C. 1999 A variant form of the nuclear triiodothyronine receptor c-ErbAalpha1 plays a direct role in regulation of mitochondrial RNA synthesis. Mol Cell Biol. 19:7913-24.

46. Hodin RA, Lazar MA, Chin WW. 1990 Differential and tissue-specific regulation of the multiple rat c-erbA messenger RNA species by thyroid hormone. J Clin Invest. 85:101-105.

47. Macchia E, Nakai A, Janiga A, Sakurai A, Fisfalen ME, Gardner P, Soltani K, DeGroot LJ. 1990 Characterization of site-specific polyclonal antibodies to c-erbA peptides recognizing human thyroid hormone receptors a₁, a_2, and ß and native 3,5,3'-triiodothyronine receptor, and study of tissue distribution of the antigen. Endocrinology. 126:3232-3239.

48. Strait KA, Schwartz HL, Perez-Castillo A, Oppenheimer JH. 1990 Relationship of c-erbA mRNA content to tissue triiodothyronine nuclear binding capacity and function in developing and adult rats. J Biol Chem. 265:10514-10521.

49. Mannavola D, Moeller LC, Beck-Peccoz P, Persani L, Weiss RE, Refetoff S. 2004 A novel splice variant involving the 5' untranslated region of the thyroid hormone receptor ß1 (TRß1). J Endocrinol Invest. 27:318-322.

50. Frankton S, Harvey CB, Gleason LM, Fadel A, Williams GR. 2004 Multiple mRNA variants regulate cell-specific expression of human thyroid hormone receptor ß1. Mol Endocrinol. 18:1631-1642.

51. Gauthier K, Chassande O, Platerotti M, Roux J-P, Legrand C, Rousset B, Weiss R, Trouillas J, Samarut J. 1999 Different functions for the thyroid hormone receptors TRa and TRß in the control of thyroid hormone production and post-natal development. EMBO J. 18:623-631.

52. Göthe S, Wang Z, Ng L, Kindblom JM, Campos barros A, Ohlsson C, Vennström B, Forrest D. 1999 Mice devoid of all known thyroid hormone receptors are viable but exhibit disorders of the pituitary-thyroid axis, growth, and bone maturation. Genes & Dev. 13:1329-1341.

53. Escriva H, Safi R, Hänni C, Langlois M-C, Saumitou-Laprade P, Stehelin D, Capron A, Pierce R, Laudet V. 1997 Ligand binding was acquired during evolution evolution of nuclear receptors. Proc Natl Acad Sci USA. 94:6803-6808.

54. Forman BM, Casanova J, Raaka BM, Ghysdael J, Samuels HH. 1992 Half-site spacing and orientation determines whether thyroid hormone and retinoic acid receptors and related factors bind to DNA response elements as monomers, homodimers, or heterodimers. Mol Endocrinol. 6:429-442.

55. Glass CK. 1994 Differential recognition of target genes by nuclear receptor monomers, dimers and heterodimers. Endocr Rev. 15:391-407.

56. Brent GA, Dunn MK, Harney JW, Gulick T, Larsen PR, Moore DD. 1989 Thyroid hormone aporeceptor represses T₃-inducible promoters and blocks activity of the retinoic acid receptor. New Biologist. 1:329-336.

57. Koenig RJ. 1998 Thyroid hormone receptor coactivators and corepressors. Thyroid. 8:703-713.

58. Pazin MJ, Kadonaga JT. 1997 What's up and down with histone deacetylation and transcription? Cell. 89:325-328.

59. Yen PM, Darling DS, Carter RL, Forgione M, Umeda PK, Chin WW. 1992 Triiodothyronine (T3) decreases binding to DNA by T3-receptor homodimers but not receptor-auxiliary protein heterodimers. J Biol Chem. 267:3565-3568.

60. Glass CK, Rose DW, Rosenfeld MG. 1997 Nuclear receptor coactivators. Current Opinion Cell Biol. 9:222-232.

61. Fondell JD, Guermah M, Malik S, Roeder RG. 1999 Thyroid hormone receptor-associated proteins and general positive cofactors mediate thyroid hormone receptor function in the absence of the TATA box-binding protein-associated factors of TFIID. Proc, Natl Acad Sci USA. 96:1959-1964.

62. Newell FW, Diddie KR. 1977 Typische Monochromasie, angeborene Taubheit und Resistenz gegenüber der intrazellulären Wikung des Thyroideahormons. Klin Mbl Augenheilk. 171:731-734.

63. Jones I, Srinivas M, Ng L, Forrest D. 2003 The thyroid hormone receptor beta gene: structure and functions in the brain and sensory systems. Thyroid. 13:1057-1068.

64. 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.

65. Sakurai A, Miyamoto T, Refetoff S, DeGroot LJ. 1990 Dominant negative transcriptional regulation by a mutant thyroid hormone receptor ß in a family with generalized resistance to thyroid hormone. Mol Endocrinol. 4:1988-1994.

66. Chatterjee VKK, Nagaya T, Madison LD, Datta S, Rantoumis A, Jameson JL. 1991 Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors. J Clin Invest. 87:1977-1984.

67. Usala SJ, Menke JB, Watson TL, Wondisford FE, Weintraub BD, Bérard J, Bradley WEC, Ono S, Mueller OT, Bercu BB. 1991 A homozygous deletion in the c-erbAß thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor. Mol Endocrinol. 5:327-335.

68. 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 hormone. J Clin Invest. 90:1825-1831.

69. Piedrafita FJ, Ortiz MA, Pfahl M. 1995 Thyroid hormone receptor-ß mutants, associated with generalized resistance to thyroid hormone show defects in their ligand-sensitive repression function. Mol Endocrinol. 9:1533-1548.

70. Hao E, Menke JB, Smith AM, Jones C, Geffner ME, Hershman JM, Wuerth J-P, Samuels HH, Ways DK, Usala SJ. 1994 Divergent dimerization properties of mutant ß1 thyroid hormone receptors are associated with different dominant negative activities. Mol Endocrinol. 8:841-851.

71. Nagaya T, Jameson JL. 1993 Thyroid hormone receptor dimerization is required for the dominant negative inhibition by mutations that cause thyroid hormone resistance. J Biol Chem. 268:15766-15771.

72. Yoh SM, Chatterjee VKK, Privalsky ML. 1997 Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T₃ receptor and transcriptional corepressor. Mol Endocrinol. 11:470-480.

73. Tagami T, Gu W-X, Peairs PT, West BL, Jameson JL. 1998 A novel natural mutation in the thyroid hormone receptor defines a dual functional domain that exchanges nuclear receptor corepressors and coactivators. Mol Endocrinol. 12:1888-1902.

74. Collingwood TN, Rajanayagam O, Adams M, Wagner R, Cavaillès V, Kalkhoven E, Matthews C, Nystrom E, Stenlof K, Lindstedt G, Tisell L, Fletterick RJ, Parker MG, Chatterjee VKK. 1997 A natural transactivation mutation in the thyroid hormone ß receptor: Impaired interaction with putative transcriptional mediators. Proc Natl Acad Sci USA. 94:248-253.

75. Liu Y, Takeshita A, Misiti S, Chin WW, Yen PM. 1998 Lack of coactivator interaction can be a mechanism for dominant negative activity by mutant thyroid hormone receptors. Endocrinology. 139:4197-4204.

76. Collingwood TN, Wagner R, Matthews CH, Clifton-Bligh RJ, Mark G, Rajanayagam O, Agostini M, Fletterick RJ, Beck-Peccoz P, Reinhardt W, Binder G, Ranke MB, Hermus A, Hesch RD, Lazarus J, Paul N, Parfitt V, Ragatt P, de Zegher F, Chatterjee VKK. 1998 A role for helix 3 of the TRß ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone. EMBO J. 16:4760-4770.

77. 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 Biol Chem. 267:13014-13019.

78. Nagaya T, Fujieda N, Seo H. 1998 Requirement of corepressor binding of thyroid hormone receptor mutants for dominant negative inhibition. Biochem Biophys Res Commun. 247:620-623.

79. Hayashi Y, Sunthornthepvarakul T, Refetoff S. 1994 Mutations of CpG dinucleotides located in the triiodothyronine (T₃)-binding domain of the thyroid hormone receptor (TR) ß 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.

80. Rastinejad F, Perlmann T, Evans F, Sigler P. 1995 Structural determinants of nuclear receptor assembly on DNA direct repeats. Nature. 375:203-211.

81. Wagner RL, Apriletti JW, McGrath ME, West BL, Baxter JD, Fletterick RJ. 1995 A structural role for hormone in the thyroid hormone receptor. Nature. 138:690-697.

82. Wagner RL, Huber BR, Shiau AK, Kelly A, Cunha Lima ST, Scanlan TS, Apriletti JW, Baxter JD, West BL, Fletterick RJ. 2001 Hormone Selectivity in Thyroid Hormone Receptors. Mol Endocrinol. 15:398-410.

83. Marimuthu A, Feng W, Tagami T, Nguyen H, Jameson JL, Fletterick RJ, Baxter JD, West BL. 2002 TR surfaces and conformations required to bind nuclear receptor corepressor. Mol Endocrinol. 16:271-286.

84. Huber BR, Desclozeaux M, West BL, Cunha-Lima ST, Nguyen HT, Baxter JD, Ingraham HA, Fletterick RJ. 2003 Thyroid hormone receptor-beta mutations conferring hormone resistance and reduced corepressor release exhibit decreased stability in the N-terminal ligand-binding domain. Mol Endocrinol. 17:107-116.

85. Meier CA, Dickstein BM, Ashizawa K, McClaskey JH, Muchmore P, Ransom SC, Menke JB, Hao EH, Usala SJ, Bercu BB, Cheng SY, Weintraub BD. 1992 Variable transcriptional activity and ligand binding of mutant ß1 3,5,3'-triiodothyronine receptors from four families with generalized resistance to thyroid hormone. Mol Endocrinol. 6:248-258.

86. Nagaya T, Eberhardt NL, Jameson JL. 1993 Thyroid hormone resistance syndrome: correlation of dominant negative activity and location of mutations. J Clin Endocrinol Metab. 77:982-990.

87. Hayashi Y, Weiss RE, Sarne DH, Yen PM, Sunthornthepvarakul T, Marcocci C, Chin WW, Refetoff S. 1995 Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-ß receptors? J Clin Endocrinol Metab. 80:3246-3256.

88. Yagi H, Pohlenz J, Hayashi Y, Sakurai A, Refetoff S. 1997 Resistance to thyroid hormone caused by two mutant thyroid hormone receptor ß, R243Q and R243W, with marked impairment of function that cannot be explained by altered in-vitro 3,5,3'-triiodothyronine binding affinity. J Clin Endocrinol Metab. 82:1608-1614.

89. Safer JD, Cohen RN, Hollenberg AN, Wondisford FE. 1998 Defective release of corepressor by hinge mutants of the thyroid hormone receptor found in patients with resistance to thyroid hormone. J Biol Chem. 273:30175-30182.

90. Clifton-Bligh RJ, de Zegher F, Wagner RL, Collingwood TN, François I, Van Helvoirt M, Fletterick RJ, Chatterjee VKK. 1998 A novel mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation. Mol Endocrinol. 12:609-621.

91. Flynn TR, Hollenberg AN, Cohen O, Menke JB, Usala SJ, Tollin S, Hegarty MK, Wondisford FE. 1994 A novel C-terminal domain in the thyroid hormone receptor selectively mediates thyroid hormone inhibition. J Biol Chem. 629:32713-32716.

92. Kurokawa R, DiRenzo J, Boehm M, Sugarman J, Gloss B, Rosenfeld MG, Heyman RA, Glass CK. 1994 Regulation of retinoid signaling by receptor polarity and allosteric control of ligand binding. Nature (Lond). 371:528-531.

93. Zamir I, Zhang J, Lazar M, A. 1997 Stoichiometric and steric principles governing repression by nuclear hormone receptors. Genes Dev. 11:835-846.

94. Duncan Bassett JH, Williams GR. 2003 The molecular actions of thyroid hormone in bone. Trends Endocrinol Metab. 14:356-364.

95. Johansson C, Göthe S, Forrest D, Vennsrtöm B, Thorén P. 1999 Cardiovascular phenotype and temperature controlin mice lacking tyroid hormone receptor ß or both a1 and ß. Am J Physiol. 276:H2006-H2012.

96. Gloss B, Trost SU, Bluhm WF, Swanson EA, Clark R, Winkfein R, Janzen KM, Giles W, Chassande O, Samarut J, Dillmann WH. 2001 Cardiac Ion Channel Expression and Contractile Function in Mice with Deletion of Thyroid Hormone Receptor alpha or ss. Endocrinology. 142:544-550.

97. Kahaly GJ, Matthews CH, Mohr-Kahaly S, Richards CA, Chatterjee VK. 2002 Cardiac involvement in thyroid hormone resistance. J Clin Endocrinol Metab. 87:204-122.

98. Lazar MA. 1993 Thyroid hormone receptors: multiple forms, multiple possibilities. Endocr Rev. 14:184-193.

99. Falcone M, Miyamoto T, Fierro-Renoy F, Nacchia E, DeGroot LJ. 1992 Antipeptide polyclonal antibodies specifically recognize each human thyroid hormone receptor isoform. Endocrinology. 131:2419-2429.

100. 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 thyroid hormone. J Clin Invest. 91:2296-2300.

101. Geffner ME, Su F, Ross NS, Hershman JM, Van Dop C, Menke JB, Hao E, Stanzak RK, Eaton T, Samuels HH, Usala SJ. 1993 An arginine to histidine mutation in codon 311 of the C-erbAß gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype. J Clin Invest. 91:538-546.

102. Weiss RE, Stein MA, Duck SC, Chyna B, Phillips W, O'Brien T, Gutermuth L, Refetoff S. 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 ß gene. J Clin Endocrinol Metab. 78:1525-1528.

103. Weiss RE, Marcocci C, Bruno-Bossio G, Refetoff S. 1993 Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab. 76:257-259.

104. Vlaeminck-Guillem V, Margotat A, Torresani J, D'Herbomez M, Decoulx M, Wemeau JL. 2000 Resistance to thyroid hormone in a family with no TRß gene anomaly: pathogenic hypotheses. Ann Endocrinol (Paris). 61:194-9.

105. Parikh S, Ando S, Schneider A, Skarulis MC, Sarlis NJ, Yen PM. 2002 Resistance to thyroid hormone in a patient without thyroid hormone receptor mutations. Thyroid. 12:81-86.

106. Pohlenz J, Weiss RE, Macchia P, E., Pannain S, Lau IT, Ho H, Refetoff S. 1999 Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor ß gene. J Clin Endocrinol Metab. 84:3919-3928.

107. Reutrakul S, Sadow PM, Pannain S, Pohlenz J, Carvalho G, Macchia PE, Weiss RE, Refetoff S. 2000 Search for abnormalities of nuclear corepressors, coactivators and a coregulator in families with resistance to thyroid hormone without thyroid hormone receptor ß or a genes mutations. J Clin Endocrinol Metab. 85:3609-3617.

108. Flamant F, Samarut J. 2003 Thyroid hormone receptors: lessons from knockout and knock-in mutant mice. Trends Endocrinol Metab. 14:85-90.

109. Forrest D, Hanebuth E, Smeyne RJ, Evereds N, Stewart CL, Wehner JM, Curran T. 1996 Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor ß: evidence for tissue-specific modulation of receptor function. EMBO J. 15:3006-3015.

110. Weiss RE, Forrest D, Pohlenz J, Cua K, Curran T, Refetoff S. 1997 Thyrotropin regulation by thyroid hormone in thyroid hormone receptor ß-deficient mice. Endocrinology. 138:3624-3629.

111. Weiss RE, Murata Y, Cua K, Hayashi Y, Seo H, Refetoff S. 1998 Thyroid hormone action on liver, heart and energy expenditure in thyroid hormone receptor ß deficient mice. (Erratum, 141:4767, 2000). Endocrinology. 139:4945-4952.

112. Forrest D, Erway LC, Ng L, Altschuler R, Curran T. 1996 Thyroid hormone receptor ß is essential for development of auditory function. Nature Genet. 13:354-357.

113. Ng L, Hurley JB, Dierks B, Srinivas M, Salto C, Vennstrom B, Reh TA, Forrest D. 2001 A thyroid hormone receptor that is required for the development of green cone photoreceptors. Nat Genet. 27:94-98.

114. Rüsch A, Erway LC, Oliver D, Vennström B, Forrest D. 1998 Thyroid hormone receptor ß-dependent expression of a potassium conductance in inner hair cells at the onset of hearing. Proc Natl Acad Sci (USA). 95:15758-15762.

115. Abel ED, Boers ME, Pazos-Moura C, Moura E, Kaulbach H, Zakaria M, Lowell B, Radovick S, Liberman MC, Wondisford F. 1999 Divergent roles for thyroid hormone receptor beta isoforms in the endocrine axis and auditory system. J Clin Invest. 104:291-300.

116. Wikström L, Johansson C, Salto C, Barlow C, Campos Barros A, Baas F, Forrest D, Thorén P, Vennström B. 1998 Abnormal heart rate and body temperature in mice lacking thyroid hormone receptor a1. EMBO J. 17:455-461.

117. Gullberg H, Rudling M, Salto C, Forrest D, Angelin B, Vennstrom B. 2002 Requirement for thyroid hormone receptor Beta in t(3) regulation of cholesterol metabolism in mice. Mol Endocrinol. 16:1767-1777.

118. Fraichard A, Chassande O, Plateroti M, Roux JP, Trouillas J, Dehay C, Legrand C, Gauthier K, Kedinger M, Malaval L, Rousset B, Samarut J. 1997 The T₃Ra gene encoding a thyroid hormone receptor is essential for post-natal development and thyroid hormone production. EMBO J. 16:4412-4420.

119. Mansouri A, Chawdhury K, Gruss P. 1998 Follicular cells of the thyroid gland require Pax8 gene function. Nature Genet. 19:87-90.

120. Flamant F, Poguet AL, Plateroti M, Chassande O, Gauthier K, Streichenberger N, Mansouri A, Samarut J. 2002 Congenital Hypothyroid Pax8(-/-) Mutant Mice Can Be Rescued by Inactivating the TRalpha Gene. Mol Endocrinol. 16:24-32.

121. Hayashi Y, Mangoura D, Refetoff S. 1996 A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor. Mol Endocrinol. 10:100-106.

122. Wong R, Vasilyev VV, Ting Y-T, Kutler DI, Willingham MC, Weintraub BD, Cheng S-y. 1997 Transgenic mice bearing a human mutant thyroid hormone ß1 receptor manifest thyroid function anomalies, weight reduction, and hyperactivity. Mol Med. 3:303-314.

123. Kaneshige M, Kaneshige K, Zhu X-g, Dace A, Garrett L, Carter TA, Kazlauskaite R, Pankratz DG, Wynshaw-Boris A, Refetoff S, Weintraube B, Willingham MC, Barlow C, Cheng S-y. 2000 Mice with a targeted mutation in the thyroid hormone ß receptor gene exhibit impaired growth and resistanceto thyroid hormone. Proc Natl Acad Sci (USA). 97:13209-13214.

124. Hashimoto K, Curty FH, Borges PP, Lee CE, Abel ED, Elmquist JK, Cohen RN, Wondisford FE. 2001 An unliganded thyroid hormone receptor causes severe neurological dysfunction. Proc Natl Acad Sci (USA). 98:3998-4003.

125. Weiss RE, Xu J, Ning G, Pohlenz J, O'Malley BW, Refetoff S. 1999 Mice deficient in the steroid receptor coactivator-1 (SRC-1) are resistant to thyroid hormone. EMBO J. 18:1900-1904.

126. Brown NS, Smart A, Sharma V, Brinkmeier ML, Greenlee L, Camper SA, Jensen DR, Eckel RoH, Krezel W, Chambon P, Haugen BR. 2000 Thyroid hormone resistance and increased metabolic rate in the RXR-g-deficient mouse. J Clin Invest. 106:73-79.

127. Itoh Y, Esaki T, Kaneshige M, Suzuki H, Cook M, Sokoloff L, Cheng SY, Nunez J. 2001 Brain glucose utilization in mice with a targeted mutation in the thyroid hormone alpha or beta receptor gene. Proc Natl Acad Sci. 98:9913-9918.

128. Esaki T, Suzuki H, Cook M, Shimoji K, Cheng SY, Sokoloff L, Nunez J. 2003 Functional activation of cerebral metabolism in mice with mutated thyroid hormone nuclear receptors. Endocrinology. 144:4117-22.

129. Persani L, Borgato S, Romoli R, Asteria C, Pizzocardo A, Beck-Peccoz P. 1998 Changes in the degree of sialylation of carbohydrate chain modify the biological properties of circulating thyrotropin isoforms in various physiological and pathological states. J Clin Endocrinol Metab. 83:2486-2492.

130. Lamberg B-A, Liewendahl K. 1980 Thyroid hormone resistance. Ann Clin Res. 12:243-253.

131. Refetoff S, Salazar A, Smith TJ, Scherberg NH. 1983 The consequences of inappropriate treatment because of failure to recognize the syndrome of pituitary and peripheral tissue resistance to thyroid hormone. Metabolism. 32:822-834.

132. Bode HH, Danon M, Weintraub BD, Maloof F, Crawford JD. 1973 Partial target organ resistance to thyroid hormone. J Clin Invest. 52:776-782.

133. Tamagna EI, Carlson HE, Hershman JM, Reed AW. 1979 Pituitary and peripheral resistance to thyroid hormone. Clin Endocrinol. 10:431-441.

134. Bajorunas DR, Rosner W, Kourides IA. 1984 Use of bromocriptine in a patient with generalized resistance to thyroid hormone. J Clin Endocrinol Metab. 58:731-735.

135. Refetoff S, DeGroot LJ, Barsano CP. 1980 Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone. J Clin Endocrinol Metab. 51:41-45.

136. Kaplowitz PB, D'Ercole AJ, Utiger RD. 1981 Peripheral resistance to thyroid hormone in an infant. J Clin Endocrinol Metab. 53:958-963.

137. Murata Y, Refetoff S, Horwitz AL, Smith TJ. 1983 Hormonal regulation of glycosaminoglycan accumulation in fibroblasts from patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 57:1233-1239.

138. Ceccarelli P, Refetoff S, Murata Y. 1987 Resistance to thyroid hormone diagnosed by the reduced response of fibroblasts to the triiodothyronine induced suppression of fibronectin synthesis. J Clin Endocrinol Metab. 65:242-246.

139. Mäenpää J, Liewendahl K. 1980 Peripheral insensitivity to thyroid hormones in a euthyroid girl with goitre. Arch Dis Child. 55:207-212.

140. White P, Burton KA, Fowden AL, Dauncey MJ. 2001 Developmental expression analysis of thyroid hormone receptor isoforms reveals new insights into their essential functions in cardiac and skeletal muscles. Faseb J. 15:1367-76.

141. Refetoff S, DeGroot LJ, Benard B, DeWind LT. 1972 Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism. 21:723-756.

142. Cooper DS, Ladenson PW, Nisula BC, Dunn JF, Chapman EM, Ridgway EC. 1982 Familial thyroid hormone resistance. Metabolism. 31:504-509.

143. Vandalem JL, Pirens G, Hennen G. 1981 Familial inappropriate TSH secretion: evidence suggesting a dissociated pituitary resistance to T3 and T4. J Endocrinol Invest. 4:413-422.

144. Lamberg BA, Sandström R, Rosengård S, Säarinen P, Evered DC. 1975 Sporadic and familial partial peripheral resistance to thyroid hormone. In: Harland WA, Orr JS, eds. Thyroid Hormone Metabolism. London: Academic Press; 139-161.

145. Brucker-Davis F, Skarulis MC, Grace MB, Benichou J, Hauser P, Wiggs E, Weintraub BD. 1995 Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health prospective study. Ann Intern Med. 123:573-583.

146. Hauser P, Zametkin AJ, Martinez P, Vitiello B, Matochik JA, Mixson AJ, Weintraub BD. 1993 Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone. N Engl J Med. 328:997-1001.

147. Weiss RE, Stein MA, Trommer B, Refetoff S. 1993 Attention-deficit hyperactivity disorder and thyroid function. J Pediatr. 123:539-545.

148. Elia J, Gulotta C, Rose SR, Martin G, Rapoport J. 1994 Thyroid function and attention-deficit hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 33:169-172.

149. Lamberg BA. 1973 Congenital euthyroid goitre and partial peripheral resistance to thyroid hormones. Lancet. 1:854-857.

150. Bantle JP, Seeling S, Mariash CN, Ulstrom RA, Oppenheimer JH. 1982 Resistance to thyroid hormones: A disorder frequently confused with Graves' disease. Arch Intern Med. 142:1867-1871.

151. Chait A, Kanter R, Green W, Kenny M. 1982 Defective thyroid hormone action in fibroblasts cultured from subjects with the syndrome of resistance to thyroid hormones. J Clin Endocrinol Metab. 54:767-772.

152. Schimmel M, Utiger R. 1977 Thyroidal and peripheral production of thyroid hormones: Review of recent findings and their clinical implications. Ann Intern Med. 87:760-768.

153. Sarne DH, Sobieszczyk S, Ain KB, Refetoff S. 1990 Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: Responses to thyrotropin-releasing hormone stimulation and triiodothyronine suppression. J Clin Endocrinol Metab. 70:1305-1311.

154. Kasai Y, Aritaki S, Utsunomiya M, Matsuno T. 1983 Twin sisters with Refetoff's Syndrome. J Jap Pediat Assoc. 87:1203-1212.

155. Hughes IA, Ichikawa K, DeGroot LJ, John R, Jones MK, Hall R, Scanlon MF. 1987 Non-adenomatous inappropriate TSH hypersecretion and euthyroidism requires no treatment. Clin Endocrinol. 27:475-483.

156. Persani L, Asteria C, Tonacchera M, Vitti P, Chatterjee VKK, Beck-Peccoz P. 1994 Evidence for secretion of thyrotropin with enhanced bioactivity in syndromes of thyroid hormone resistance. J Clin Endocrinol Metab. 78:1034-1039.

157. Lamberg BA, Rosengård S, Liwendahl K, Säarinen P, Evered DC. 1978 Familial partial peripheral resistance to thyroid hormones. Acta Endocrinol. 87:303-312.

158. David L, Blanc JF, Chatelain P, Rouchon A, François R. 1979 Goitre congéntal avec résistance péripherique partielle aux hormones thyroïdiennes. Ou syndrome de pseudo-hyperthyroïdie. Pédiatrie. 34:443-449.

159. Gómez-Sáez JM, Fernández Castañer M, Navarro MA, Bonnin MR, Soler Ramón J, Roca A. 1981 Resistencia parcial a las hormonas tiroideas con bocio y eutiroidismo. Med Clin. 76:412-416.

160. Gheri RG, Bianchi R, Mariani G, Toccafondi R, Cappelli G, Brat A, Borghi A, Giusti G, Forti G. 1984 A new case of familial partial generalized resistance to thyroid hormone: Study of 3,5,3'-triiodothyronine (T3) binding to lymphocyte and skin fibroblast nuclei and in vivo conversion of thyroxine to T3. J Clin Endocrinol Metab. 58:563-569.

161. Refetoff S, Matalon R, Bigazzi M. 1972 Metabolism of L-thyroxine (T4) and L-triiodothyronine (T3) by human fibroblasts in tissue culture: Evidence for cellular binding proteins and conversion of T4 to T3. Endocrinology. 91:934-947.

162. Kunitake JM, Hartman N, Henson LC, Lieberman J, Williams DE, Wong M, Hershman JM. 1989 3,5,3'-triiodothyroacetic acid therapy for thyroid hormone resistance. J Clin Endocrinol Metab. 69:461-466.

163. Magner JA, Petrick P, Menezes-Ferreira MM, Stelling M, Weintraub BD. 1986 Familial generalized resistance to thyroid hormones: report of three kindreds and correlation of patterns of affected tissues with the binding of [¹²⁵I] triiodothyronine to fibroblast nuclei. J Endocrinol Invest. 9:459-470.

164. Maxon HR, Burman KD, Premachandra BN, Chen I-W, Burger A, Levy P, Georges LP. 1982 Familial elevation of total and free thyroxine in healthy, euthyroid subjects without detectable binding protein abnormalities. Acta Endocrinol. 100:224-230.

165. Beck-Peccoz P, Persani L, Faglia G. 1992 Glycoprotein hormone a-subunit in pituitary adenomas. Trends Endocrinol Metab. 3:41-45.

166. Mornex R, Tommasi M, Cure M, Farcot J, Orgiazzi J, Rousset B. 1972 Hyperthyroidie associee a un hypopituitarisme au cours de l'evolution d'une tumeur hypophysaire secretant T.S.H. Ann d'Endocrinol (Paris). 33:390-396.

167. Rösler A, Litvin Y, Hage C, Gross J, Cerasi E. 1982 Familial hyperthyroidism due to inappropriate thyrotropin secretion successfully treated with triiodothyronine. J Clin Endocrinol Metab. 54:76-82.

168. Anselmo J, Cao D, Karrison T, Weiss RE, Refetoff S. 2004 Fetal loss associated with excess thyroid hormone exposure. JAMA. 292:691-695.

169. Asteria C, Rajanayagam O, Collingwood TN, Persani L, Romoli R, Mannavola D, Zamperini P, Buzi F, Ciralli F, Chatterjee VKK, Beck-Peccoz P. 1999 Prenatal diagnosis of thyroid hormone resistance. J Clin Endocrinol Metab. 84:405-410.

170. Weiss RE, Refetoff S. 1999 Treatment of resistance to thyroid hormone--primum non nocere. J Clin Endocrinol Metab. 84:401-4.

171. Safer JD, Colan SD, Fraser LM, Wondisford FE. 2001 A pituitary tumor in a patient with thyroid hormone resistance: a diagnostic dilemma. Thyroid. 11:281-91.

172. Anselmo J, Refetoff S. 2004 Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid. 14:71-4.