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Samuel Refetoff to Receptors, Thyroid Hormone

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This is a "connection" page, showing publications Samuel Refetoff has written about Receptors, Thyroid Hormone.
Samuel Refetoff
Connection Strength
6.915
Receptors, Thyroid Hormone
  1. 13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action. Thyroid. 2018 06; 28(6):690-691.
    View in: PubMed
    Score: 0.614
  2. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007 Jun; 21(2):277-305.
    View in: PubMed
    Score: 0.288
  3. A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab. 2005 Mar; 90(3):1760-7.
    View in: PubMed
    Score: 0.243
  4. A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child. Thyroid. 2003 Apr; 13(4):409-12.
    View in: PubMed
    Score: 0.216
  5. Resistance to thyroid hormone with and without receptor gene mutations. Ann Endocrinol (Paris). 2003 Feb; 64(1):23-5.
    View in: PubMed
    Score: 0.214
  6. Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes. J Endocrinol. 2002 Jan; 172(1):177-85.
    View in: PubMed
    Score: 0.198
  7. Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha. Proc Natl Acad Sci U S A. 2001 Jan 02; 98(1):349-54.
    View in: PubMed
    Score: 0.185
  8. Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. J Clin Endocrinol Metab. 2000 Oct; 85(10):3609-17.
    View in: PubMed
    Score: 0.182
  9. Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1999 Nov; 84(11):3919-28.
    View in: PubMed
    Score: 0.170
  10. Thyroid hormone action on liver, heart, and energy expenditure in thyroid hormone receptor beta-deficient mice. Endocrinology. 1998 Dec; 139(12):4945-52.
    View in: PubMed
    Score: 0.160
  11. Selective pituitary resistance to thyroid hormone produced by expression of a mutant thyroid hormone receptor beta gene in the pituitary gland of transgenic mice. Biochem Biophys Res Commun. 1998 Apr 07; 245(1):204-10.
    View in: PubMed
    Score: 0.153
  12. Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo. Proc Natl Acad Sci U S A. 2017 12 26; 114(52):E11323-E11332.
    View in: PubMed
    Score: 0.150
  13. Mutation in the thyroid hormone receptor beta gene (A317T) in a Thai subject with resistance to thyroid hormone. Thyroid. 1997 Dec; 7(6):905-7.
    View in: PubMed
    Score: 0.149
  14. A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone. Thyroid. 1997 Oct; 7(5):771-3.
    View in: PubMed
    Score: 0.148
  15. Thyrotropin regulation by thyroid hormone in thyroid hormone receptor beta-deficient mice. Endocrinology. 1997 Sep; 138(9):3624-9.
    View in: PubMed
    Score: 0.147
  16. 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. J Clin Endocrinol Metab. 1997 May; 82(5):1608-14.
    View in: PubMed
    Score: 0.143
  17. Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C). Thyroid. 1997 Feb; 7(1):35-8.
    View in: PubMed
    Score: 0.141
  18. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. J Clin Endocrinol Metab. 1996 Dec; 81(12):4196-203.
    View in: PubMed
    Score: 0.139
  19. Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH). Thyroid. 1996 Dec; 6(6):571-3.
    View in: PubMed
    Score: 0.139
  20. A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH). Thyroid. 1996 Aug; 6(4):311-2.
    View in: PubMed
    Score: 0.136
  21. A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor. Mol Endocrinol. 1996 Jan; 10(1):100-6.
    View in: PubMed
    Score: 0.131
  22. Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? J Clin Endocrinol Metab. 1995 Nov; 80(11):3246-56.
    View in: PubMed
    Score: 0.129
  23. Expression of a thyroid hormone-responsive recombinant gene introduced into adult mice livers by replication-defective adenovirus can be regulated by endogenous thyroid hormone receptor. J Biol Chem. 1994 Sep 30; 269(39):23872-5.
    View in: PubMed
    Score: 0.120
  24. 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. J Clin Invest. 1994 Aug; 94(2):607-15.
    View in: PubMed
    Score: 0.118
  25. Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1994 Jun; 78(6):1525-8.
    View in: PubMed
    Score: 0.117
  26. A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. J Clin Endocrinol Metab. 1994 May; 78(5):1253-6.
    View in: PubMed
    Score: 0.116
  27. Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine. Thyroid. 1994; 4(3):249-54.
    View in: PubMed
    Score: 0.114
  28. 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. 1993 Jun; 91(6):2408-15.
    View in: PubMed
    Score: 0.109
  29. Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab. 1993 Jan; 76(1):257-9.
    View in: PubMed
    Score: 0.106
  30. 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. 1993 Jan; 76(1):64-9.
    View in: PubMed
    Score: 0.106
  31. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013 Jul; 1830(7):3987-4003.
    View in: PubMed
    Score: 0.103
  32. Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. J Clin Endocrinol Metab. 1992 Apr; 74(4):712-9.
    View in: PubMed
    Score: 0.101
  33. Thyroid hormone resistance. Annu Rev Med. 1992; 43:363-75.
    View in: PubMed
    Score: 0.099
  34. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. J Clin Endocrinol Metab. 1992 Jan; 74(1):49-55.
    View in: PubMed
    Score: 0.099
  35. 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. J Clin Invest. 1991 Feb; 87(2):496-502.
    View in: PubMed
    Score: 0.093
  36. Diverse abnormalities of the c-erbA beta thyroid hormone receptor gene in generalized thyroid hormone resistance. Adv Exp Med Biol. 1991; 299:251-8.
    View in: PubMed
    Score: 0.092
  37. A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology. 2009 Sep; 150(9):4450-8.
    View in: PubMed
    Score: 0.083
  38. Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone. Nat Clin Pract Endocrinol Metab. 2008 Jan; 4(1):1.
    View in: PubMed
    Score: 0.075
  39. International Union of Pharmacology. LIX. The pharmacology and classification of the nuclear receptor superfamily: thyroid hormone receptors. Pharmacol Rev. 2006 Dec; 58(4):705-11.
    View in: PubMed
    Score: 0.070
  40. Resistance to thyroid hormone in a patient with thyroid dysgenesis. Thyroid. 2005 Jul; 15(7):730-3.
    View in: PubMed
    Score: 0.063
  41. Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid. 2004 Jan; 14(1):71-4.
    View in: PubMed
    Score: 0.057
  42. RXR receptor agonist suppression of thyroid function: central effects in the absence of thyroid hormone receptor. Am J Physiol Endocrinol Metab. 2002 Aug; 283(2):E326-31.
    View in: PubMed
    Score: 0.052
  43. Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance. Mol Endocrinol. 2001 Sep; 15(9):1529-38.
    View in: PubMed
    Score: 0.048
  44. Genetic analysis reveals different functions for the products of the thyroid hormone receptor alpha locus. Mol Cell Biol. 2001 Jul; 21(14):4748-60.
    View in: PubMed
    Score: 0.048
  45. Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone. Proc Natl Acad Sci U S A. 2000 Nov 21; 97(24):13209-14.
    View in: PubMed
    Score: 0.046
  46. Resistance to thyroid hormone. Rev Endocr Metab Disord. 2000 Jan; 1(1-2):97-108.
    View in: PubMed
    Score: 0.043
  47. A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone. Thyroid. 1999 Dec; 9(12):1195-203.
    View in: PubMed
    Score: 0.043
  48. Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene. Thyroid. 1999 Oct; 9(10):1001-4.
    View in: PubMed
    Score: 0.042
  49. Treatment of resistance to thyroid hormone--primum non nocere. J Clin Endocrinol Metab. 1999 Feb; 84(2):401-4.
    View in: PubMed
    Score: 0.040
  50. Modification of thyroid hormone and 9-cis retinoic acid signaling by overexpression of their cognate receptors using adenoviral vector. Mol Cell Endocrinol. 1997 Jul 04; 131(1):59-66.
    View in: PubMed
    Score: 0.036
  51. Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature. Endocrinology. 2017 07 01; 158(7):2052-2057.
    View in: PubMed
    Score: 0.036
  52. Neurocognitive characteristics of individuals with resistance to thyroid hormone: comparisons with individuals with attention-deficit hyperactivity disorder. J Dev Behav Pediatr. 1995 Dec; 16(6):406-11.
    View in: PubMed
    Score: 0.032
  53. Studies on the repression of basal transcription (silencing) by artificial and natural human thyroid hormone receptor-beta mutants. Endocrinology. 1995 Jul; 136(7):2845-51.
    View in: PubMed
    Score: 0.032
  54. Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK. Clin Endocrinol (Oxf). 1994 May; 40(5):697-700.
    View in: PubMed
    Score: 0.029
  55. Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K. J Endocrinol Invest. 1994 Apr; 17(4):283-7.
    View in: PubMed
    Score: 0.029
  56. Nomenclature of thyroid hormone receptor beta-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. 1994 Apr; 78(4):990-3.
    View in: PubMed
    Score: 0.029
  57. Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK. Eur J Endocrinol. 1994 Apr; 130(4):426-8.
    View in: PubMed
    Score: 0.029
  58. Resistance to thyroid hormone and its molecular basis. Acta Paediatr Jpn. 1994 Feb; 36(1):1-15.
    View in: PubMed
    Score: 0.029
  59. Resistance to thyroid hormone: an historical overview. Thyroid. 1994; 4(3):345-9.
    View in: PubMed
    Score: 0.028
  60. Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K. Thyroid. 1994; 4(1):135-7.
    View in: PubMed
    Score: 0.028
  61. How clinical observations of a congenital disease can be translated in terms of molecular biology. Perspect Biol Med. 1994; 37(3):315-26.
    View in: PubMed
    Score: 0.028
  62. Resistance to thyroid hormone. Clin Lab Med. 1993 Sep; 13(3):563-81.
    View in: PubMed
    Score: 0.028
  63. The syndromes of resistance to thyroid hormone. Endocr Rev. 1993 Jun; 14(3):348-99.
    View in: PubMed
    Score: 0.027
  64. 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. 1992 Nov; 90(5):1825-31.
    View in: PubMed
    Score: 0.026
  65. Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone. Mol Endocrinol. 1990 Dec; 4(12):1988-94.
    View in: PubMed
    Score: 0.023
  66. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. Proc Natl Acad Sci U S A. 1989 Nov; 86(22):8977-81.
    View in: PubMed
    Score: 0.021
  67. Reduced triiodothyronine content in liver but not pituitary of the uremic rat model: demonstration of changes compatible with thyroid hormone deficiency in liver only. Endocrinology. 1984 Jan; 114(1):280-6.
    View in: PubMed
    Score: 0.014
  68. Type 1 iodothyronine deiodinase in the house musk shrew (Suncus murinus, Insectivora: Soricidae): cloning and characterization of complementary DNA, unique tissue distribution and regulation by T(3). Gen Comp Endocrinol. 2002 Jun 01; 127(1):48-58.
    View in: PubMed
    Score: 0.013
  69. Responsiveness to thyroid hormone is enhanced in rat hepatocytes cultured as spheroids compared with that in monolayers: altered responsiveness to thyroid hormone possibly involves complex formed on thyroid hormone response elements. Thyroid. 1999 Sep; 9(9):959-67.
    View in: PubMed
    Score: 0.011
  70. Nuclear thyroid hormone receptors in cultured human fibroblasts: improved method of isolation, partial characterization, and interaction with chromatin. Metabolism. 1986 Sep; 35(9):861-8.
    View in: PubMed
    Score: 0.004
  71. Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral tissue resistance to thyroid hormone action. J Clin Endocrinol Metab. 1978 Dec; 47(6):1266-72.
    View in: PubMed
    Score: 0.002
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