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4. A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. Refetoff S, Marinov VS, Tunca H, Byrne MM, Sunthornthepvarakul T, Weiss RE. J Clin Endocrinol Metab; 1996 Sep; 81(9):3335-40. PubMed ID: 8784093 [Abstract] [Full Text] [Related]
7. A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. Moses AC, Rosen HN, Moller DE, Tsuzaki S, Haddow JE, Lawlor J, Liepnieks JJ, Nichols WC, Benson MD. J Clin Invest; 1990 Dec; 86(6):2025-33. PubMed ID: 1979335 [Abstract] [Full Text] [Related]
8. Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family. Lalloz MR, Byfield PG, Goel KM, Loudon MM, Thomson JA, Himsworth RL. J Clin Endocrinol Metab; 1987 Feb; 64(2):346-52. PubMed ID: 3098776 [Abstract] [Full Text] [Related]
9. Comparative studies of two transthyretin variants with protective effects on familial amyloidotic polyneuropathy: TTR R104H and TTR T119M. Almeida MR, Alves IL, Terazaki H, Ando Y, Saraiva MJ. Biochem Biophys Res Commun; 2000 Apr 21; 270(3):1024-8. PubMed ID: 10772944 [Abstract] [Full Text] [Related]
10. Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy. Refetoff S, Dwulet FE, Benson MD. J Clin Endocrinol Metab; 1986 Dec 21; 63(6):1432-7. PubMed ID: 3097057 [Abstract] [Full Text] [Related]
11. Molecular analyses of an acidic transthyretin Asn 90 variant. Saraiva MJ, Almeida MR, Alves IL, Moreira P, Gawinowicz M, Costa PP, Rauh S, Banhzoff A, Altland K. Am J Hum Genet; 1991 May 21; 48(5):1004-8. PubMed ID: 1850190 [Abstract] [Full Text] [Related]
12. Presence of a plasma transthyretin (prealbumin) variant in familial amyloidotic polyneuropathy in a kindred of Greek origin. Saraiva MJ, Sherman W, Goodman DS. J Lab Clin Med; 1986 Jul 21; 108(1):17-22. PubMed ID: 3011930 [Abstract] [Full Text] [Related]
13. Family studies of the genetic abnormality in transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. Saraiva MJ, Birken S, Costa PP, Goodman DS. Ann N Y Acad Sci; 1984 Jul 21; 435():86-100. PubMed ID: 6099706 [Abstract] [Full Text] [Related]
14. A novel variant of transthyretin (prealbumin), Thr119 to Met, associated with increased thyroxine binding. Scrimshaw BJ, Fellowes AP, Palmer BN, Croxson MS, Stockigt JR, George PM. Thyroid; 1992 Jul 21; 2(1):21-6. PubMed ID: 1356051 [Abstract] [Full Text] [Related]
15. Thyroxine binding by human transthyretin variants: mutations at position 119, but not position 54, increase thyroxine binding affinity. Curtis AJ, Scrimshaw BJ, Topliss DJ, Stockigt JR, George PM, Barlow JW. J Clin Endocrinol Metab; 1994 Feb 21; 78(2):459-62. PubMed ID: 7906282 [Abstract] [Full Text] [Related]
16. Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy. Saraiva MJ, Costa PP, Goodman DS. Neurology; 1986 Nov 21; 36(11):1413-7. PubMed ID: 3762958 [Abstract] [Full Text] [Related]
17. A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels. Terazaki H, Ando Y, Misumi S, Nakamura M, Ando E, Matsunaga N, Shoji S, Okuyama M, Ideta H, Nakagawa K, Ishizaki T, Ando M, Saraiva MJ. Biochem Biophys Res Commun; 1999 Oct 22; 264(2):365-70. PubMed ID: 10529370 [Abstract] [Full Text] [Related]
18. Novel mutation p.A64D in the Serpina7 gene as a cause of partial thyroxine-binding globulin deficiency associated with increases affinity in transthyretin by a known p.A109T mutation in the TTR gene. Sklate RT, Olcese MC, Maccallini GC, Sarmiento RG, Targovnik HM, Rivolta CM. Horm Metab Res; 2014 Feb 22; 46(2):100-8. PubMed ID: 24356794 [Abstract] [Full Text] [Related]
19. Production of recombinant human transthyretin with biological activities toward the understanding of the molecular basis of familial amyloidotic polyneuropathy (FAP). Furuya H, Saraiva MJ, Gawinowicz MA, Alves IL, Costa PP, Sasaki H, Goto I, Sakaki Y. Biochemistry; 1991 Mar 05; 30(9):2415-21. PubMed ID: 1848097 [Abstract] [Full Text] [Related]
20. Thyroxine binding to transthyretin (TTR) variants--two variants (TTR Pro 55 and TTR Met 111) with a particularly low binding affinity. Almeida MR, Saraiva MJ. Eur J Endocrinol; 1996 Aug 05; 135(2):226-30. PubMed ID: 8810738 [Abstract] [Full Text] [Related] Page: [Next] [New Search]