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202 related items for PubMed ID: 9707574

  • 1. A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases.
    Kim PS, Hossain SA, Park YN, Lee I, Yoo SE, Arvan P.
    Proc Natl Acad Sci U S A; 1998 Aug 18; 95(17):9909-13. PubMed ID: 9707574
    [Abstract] [Full Text] [Related]

  • 2. An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism.
    Kim PS, Kwon OY, Arvan P.
    J Cell Biol; 1996 May 18; 133(3):517-27. PubMed ID: 8636228
    [Abstract] [Full Text] [Related]

  • 3. Maintaining the thyroid gland in mutant thyroglobulin-induced hypothyroidism requires thyroid cell proliferation that must continue in adulthood.
    Zhang X, Malik B, Young C, Zhang H, Larkin D, Liao XH, Refetoff S, Liu M, Arvan P.
    J Biol Chem; 2022 Jul 18; 298(7):102066. PubMed ID: 35618019
    [Abstract] [Full Text] [Related]

  • 4. Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism.
    Baryshev M, Sargsyan E, Wallin G, Lejnieks A, Furudate S, Hishinuma A, Mkrtchian S.
    J Mol Endocrinol; 2004 Jun 18; 32(3):903-20. PubMed ID: 15171721
    [Abstract] [Full Text] [Related]

  • 5. The acetylcholinesterase homology region is essential for normal conformational maturation and secretion of thyroglobulin.
    Park YN, Arvan P.
    J Biol Chem; 2004 Apr 23; 279(17):17085-9. PubMed ID: 14764582
    [Abstract] [Full Text] [Related]

  • 6. A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat.
    Kim PS, Ding M, Menon S, Jung CG, Cheng JM, Miyamoto T, Li B, Furudate S, Agui T.
    Mol Endocrinol; 2000 Dec 23; 14(12):1944-53. PubMed ID: 11117525
    [Abstract] [Full Text] [Related]

  • 7. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism.
    Medeiros-Neto G, Targovnik HM, Vassart G.
    Endocr Rev; 1993 Apr 23; 14(2):165-83. PubMed ID: 8325250
    [Abstract] [Full Text] [Related]

  • 8. Molecular basis of the thyroglobulin synthesis defect in Dutch goats.
    Veenboer GJ, de Vijlder JJ.
    Endocrinology; 1993 Jan 23; 132(1):377-81. PubMed ID: 8380383
    [Abstract] [Full Text] [Related]

  • 9. Defective protein folding and intracellular retention of thyroglobulin-R19K mutant as a cause of human congenital goiter.
    Kim PS, Lee J, Jongsamak P, Menon S, Li B, Hossain SA, Bae JH, Panijpan B, Arvan P.
    Mol Endocrinol; 2008 Feb 23; 22(2):477-84. PubMed ID: 17916655
    [Abstract] [Full Text] [Related]

  • 10. Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones.
    Medeiros-Neto G, Kim PS, Yoo SE, Vono J, Targovnik HM, Camargo R, Hossain SA, Arvan P.
    J Clin Invest; 1996 Dec 15; 98(12):2838-44. PubMed ID: 8981932
    [Abstract] [Full Text] [Related]

  • 11. Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death.
    Zhang X, Kellogg AP, Citterio CE, Zhang H, Larkin D, Morishita Y, Targovnik HM, Balbi VA, Arvan P.
    JCI Insight; 2021 Jun 08; 6(11):. PubMed ID: 33914707
    [Abstract] [Full Text] [Related]

  • 12. Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
    Hishinuma A, Takamatsu J, Ohyama Y, Yokozawa T, Kanno Y, Kuma K, Yoshida S, Matsuura N, Ieiri T.
    J Clin Endocrinol Metab; 1999 Apr 08; 84(4):1438-44. PubMed ID: 10199792
    [Abstract] [Full Text] [Related]

  • 13. The congenital goiter mutation is linked to the thyroglobulin gene in the mouse.
    Taylor BA, Rowe L.
    Proc Natl Acad Sci U S A; 1987 Apr 08; 84(7):1986-90. PubMed ID: 2882514
    [Abstract] [Full Text] [Related]

  • 14. Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport.
    Hishinuma A, Kasai K, Masawa N, Kanno Y, Arimura M, Shimoda SI, Ieiri T.
    Endocr J; 1998 Jun 08; 45(3):315-27. PubMed ID: 9790265
    [Abstract] [Full Text] [Related]

  • 15. Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.
    Targovnik HM, Frechtel GD, Mendive FM, Vono J, Cochaux P, Vassart G, Medeiros-Neto G.
    Thyroid; 1998 Apr 08; 8(4):291-7. PubMed ID: 9588493
    [Abstract] [Full Text] [Related]

  • 16. A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats.
    Hishinuma A, Furudate S, Oh-Ishi M, Nagakubo N, Namatame T, Ieiri T.
    Endocrinology; 2000 Nov 08; 141(11):4050-5. PubMed ID: 11089535
    [Abstract] [Full Text] [Related]

  • 17. The cholinesterase-like domain, essential in thyroglobulin trafficking for thyroid hormone synthesis, is required for protein dimerization.
    Lee J, Wang X, Di Jeso B, Arvan P.
    J Biol Chem; 2009 May 08; 284(19):12752-61. PubMed ID: 19276074
    [Abstract] [Full Text] [Related]

  • 18. A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.
    van de Graaf SA, Ris-Stalpers C, Veenboer GJ, Cammenga M, Santos C, Targovnik HM, de Vijlder JJ, Medeiros-Neto G.
    J Clin Endocrinol Metab; 1999 Jul 08; 84(7):2537-42. PubMed ID: 10404833
    [Abstract] [Full Text] [Related]

  • 19. Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.
    Targovnik HM, Esperante SA, Rivolta CM.
    Mol Cell Endocrinol; 2010 Jun 30; 322(1-2):44-55. PubMed ID: 20093166
    [Abstract] [Full Text] [Related]

  • 20. Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.
    Targovnik H, Propato F, Varela V, Wajchenberg B, Knobel M, D'Abronzo HF, Medeiros-Neto G.
    J Clin Endocrinol Metab; 1989 Dec 30; 69(6):1137-47. PubMed ID: 2584351
    [Abstract] [Full Text] [Related]

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