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298 related items for PubMed ID: 1653889

  • 1. A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor.
    Usala SJ, Menke JB, Watson TL, Wondisford FE, Weintraub BD, Bérard J, Bradley WE, Ono S, Mueller OT, Bercu BB.
    Mol Endocrinol; 1991 Mar; 5(3):327-35. PubMed ID: 1653889
    [Abstract] [Full Text] [Related]

  • 2. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.
    Usala SJ, Tennyson GE, Bale AE, Lash RW, Gesundheit N, Wondisford FE, Accili D, Hauser P, Weintraub BD.
    J Clin Invest; 1990 Jan; 85(1):93-100. PubMed ID: 2153155
    [Abstract] [Full Text] [Related]

  • 3. A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.
    Usala SJ, Menke JB, Watson TL, Bérard WE, Bradley C, Bale AE, Lash RW, Weintraub BD.
    J Clin Endocrinol Metab; 1991 Jan; 72(1):32-8. PubMed ID: 1846005
    [Abstract] [Full Text] [Related]

  • 4. 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.
    Cugini CD, Leidy JW, Chertow BS, Bérard J, Bradley WE, Menke JB, Hao EH, Usala SJ.
    J Clin Endocrinol Metab; 1992 May; 74(5):1164-70. PubMed ID: 1314846
    [Abstract] [Full Text] [Related]

  • 5. Competitive polymerase chain reaction quantitation of c-erbA beta 1, c-erbA alpha 1, and c-erbA alpha 2 messenger ribonucleic acid levels in normal, heterozygous, and homozygous fibroblasts of kindred S with thyroid hormone resistance.
    Klann RC, Torres B, Menke JB, Holbrook CT, Bercu BB, Usala SJ.
    J Clin Endocrinol Metab; 1993 Oct; 77(4):969-75. PubMed ID: 8408473
    [Abstract] [Full Text] [Related]

  • 6. Tight linkage of the human c-erbA beta gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds.
    Fein HG, Burman KD, Djuh YY, Usala SJ, Bale AE, Weintraub BD, Smallridge RC.
    J Endocrinol Invest; 1991 Mar; 14(3):219-23. PubMed ID: 1677017
    [Abstract] [Full Text] [Related]

  • 7. An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.
    Geffner ME, Su F, Ross NS, Hershman JM, Van Dop C, Menke JB, Hao E, Stanzak RK, Eaton T, Samuels HH.
    J Clin Invest; 1993 Feb; 91(2):538-46. PubMed ID: 8381821
    [Abstract] [Full Text] [Related]

  • 8. Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone.
    Ono S, Schwartz ID, Mueller OT, Root AW, Usala SJ, Bercu BB.
    J Clin Endocrinol Metab; 1991 Nov; 73(5):990-4. PubMed ID: 1682340
    [Abstract] [Full Text] [Related]

  • 9. Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain.
    Parrilla R, Mixson AJ, McPherson JA, McClaskey JH, Weintraub BD.
    J Clin Invest; 1991 Dec; 88(6):2123-30. PubMed ID: 1661299
    [Abstract] [Full Text] [Related]

  • 10. Divergent dimerization properties of mutant beta 1 thyroid hormone receptors are associated with different dominant negative activities.
    Hao E, Menke JB, Smith AM, Jones C, Geffner ME, Hershman JM, Wuerth JP, Samuels HH, Ways DK, Usala SJ.
    Mol Endocrinol; 1994 Jul; 8(7):841-51. PubMed ID: 7984146
    [Abstract] [Full Text] [Related]

  • 11. 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.
    Behr M, Loos U.
    Mol Endocrinol; 1992 Jul; 6(7):1119-26. PubMed ID: 1324420
    [Abstract] [Full Text] [Related]

  • 12. Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene.
    Usala SJ, Bale AE, Gesundheit N, Weinberger C, Lash RW, Wondisford FE, McBride OW, Weintraub BD.
    Mol Endocrinol; 1988 Dec; 2(12):1217-20. PubMed ID: 2905763
    [Abstract] [Full Text] [Related]

  • 13. Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3'-triiodothyronine receptor-beta.
    Sasaki S, Nakamura H, Tagami T, Miyoshi Y, Nogimori T, Mitsuma T, Imura H.
    J Clin Endocrinol Metab; 1993 May; 76(5):1254-8. PubMed ID: 8496318
    [Abstract] [Full Text] [Related]

  • 14. Dominant and nondominant negative C-erbA beta 1 receptors associated with thyroid hormone resistance syndromes augment 12-O-tetradecanoyl-phorbol-13-acetate induction of the collagenase promoter and exhibit defective 3,5,3'-triiodothyronine-mediated repression.
    Ways DK, Qin W, Cook P, Parker PJ, Menke JB, Hao E, Smith AM, Jones C, Hershman JM, Geffner ME.
    Mol Endocrinol; 1993 Sep; 7(9):1112-20. PubMed ID: 8247013
    [Abstract] [Full Text] [Related]

  • 15. Thyroid hormone and DNA binding properties of a mutant c-erbA beta receptor associated with generalized thyroid hormone resistance.
    Usala SJ, Wondisford FE, Watson TL, Menke JB, Weintraub BD.
    Biochem Biophys Res Commun; 1990 Sep 14; 171(2):575-80. PubMed ID: 2169728
    [Abstract] [Full Text] [Related]

  • 16. Generalized thyroid hormone resistance: identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor.
    Burman KD, Djuh YY, Nicholson D, Rhooms P, Wartofsky L, Fein HG, Usala SJ, Hao EH, Bradley WE, Berard J.
    J Endocrinol Invest; 1992 Sep 14; 15(8):573-9. PubMed ID: 1358935
    [Abstract] [Full Text] [Related]

  • 17. A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone.
    Shuto Y, Wakabayashi I, Amuro N, Minami S, Okazaki T.
    J Clin Endocrinol Metab; 1992 Jul 14; 75(1):213-7. PubMed ID: 1619012
    [Abstract] [Full Text] [Related]

  • 18. Molecular diagnosis and characterization of thyroid hormone resistance syndromes.
    Usala SJ.
    Thyroid; 1991 Jul 14; 1(4):361-7. PubMed ID: 1668726
    [Abstract] [Full Text] [Related]

  • 19. Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone.
    Sakurai A, Miyamoto T, Refetoff S, DeGroot LJ.
    Mol Endocrinol; 1990 Dec 14; 4(12):1988-94. PubMed ID: 2082193
    [Abstract] [Full Text] [Related]

  • 20. A domain containing leucine-zipper-like motifs mediate novel in vivo interactions between the thyroid hormone and retinoic acid receptors.
    Forman BM, Yang CR, Au M, Casanova J, Ghysdael J, Samuels HH.
    Mol Endocrinol; 1989 Oct 14; 3(10):1610-26. PubMed ID: 2558297
    [Abstract] [Full Text] [Related]

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