Autosomally transmitted low concentration of thyroxine-binding globulin

Thyroid

Volumn 9, Issue 2, 1999, Pages 159-163

  Kobayashi, Hiroaki ^a   Sakurai, Akihiro ^a   Katai, Miyuki ^a   Hashizume, Kiyoshi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

THYROXINE; THYROXINE BINDING GLOBULIN;

ADULT; ARTICLE; CASE REPORT; GENETIC SUSCEPTIBILITY; HERITABILITY; HUMAN; HYPOTHYROIDISM; MALE; PRIORITY JOURNAL; RISK ASSESSMENT; THYROID FUNCTION; X CHROMOSOMAL INHERITANCE; X CHROMOSOME LINKAGE;

EID: 0033045419     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.1999.9.159     Document Type: Article

References (23)

1. Bartalena L 1990 Recent achievements in studies on thyroid hormone-binding proteins. Endocr Rev 11:47-64.
2. Trent JM, Flink IL, Morkin E, Van Tuinen P, Ledbetter DH 1987 Localization of the human thyroxine-binding globulin gene to the long arm of the X chromosome (Xq21-22). Am J Hum Genet 41:428-435.
3. Hayashi Y, Refetoff S 1995 Genetic abnormalities of thyroid hormone transport proteins. In: Weintraub B (ed) Molecular endocrinology. Basic Concepts and Clinical Correlations. Raven Press, New York, pp 371-387.
4. Mori Y, Miura Y, Takeuchi H, Igarashi Y, Sugiura J, Saito H, Oiso Y 1995 Gene amplification as a cause of inherited thyroxine-binding globulin excess in two Japanese families. J Clin Endocrinol Metab 80:3758-3762.
5. Takamatsu J, Refetoff S, Charbonneau M, Dussault JH 1987 Two new inherited defects of the thyroxine-binding globulin (TBG) molecule presenting as partial TBG deficiency. J Clin Invest 79:833-840.
6. Murata Y, Refetoff S, Same H, Dick M, Watson F 1985 Variant thyroxine-binding globulin in serum of Australina Aborigines: Its physical, chemical and biological properties. J Endocrinol Invest 8:225-232.
7. Hayashi Y, Mori Y, Janssen OE, Sunthornthepvarakul T, Weiss RE, Takeda K, Weinberg M, Seo H, Bell GI, Refetoff S 1993 Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation. Mol Endocrinol 7:1049-1060.
8. Janssen OE, Takeda K, Refetoff S 1991 Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency. Hum Genet 87:119-122.
9. Connors MH, Dunger DB, Chapel H, Jefferson I, Jowett TP, Edwards PR 1996 Diminished thyroxine-binding globulin in pubertal diabetic children. Diabetes Care 19:246-248.
10. Macchia PE, Harrison HH, Scherberg NH, Sunthornthepvarakul T, Jaeken J, Refetoff S 1995 Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. J Clin Endocrinol Metab 80:3744-3749.
11. Bellabarba D, Inada M, Varsano-Aharon N, Sterling K 1968 Thyroxine transport and turnover in major nonthyroidal illness. J Clin Endocrinol Metab 28:1023-1030.
12. Miura Y, Kambe F, Yamamori I, Mori Y, Tani Y, Murata Y, Oiso Y, Seo H 1994 A truncated thyroxine-binding globulin due to a frameshift mutation is retained within the rough endoplasmic reticulum: A possible mechanism of complete thyroxine-binding globulin deficiency in Japanese. J Clin Endocrinol Metab 78:283-287.
13. Miura Y, Mori Y, Kambe F, Tani Y, Oiso Y, Seo H 1994 Impaired intracellular transport contributes to partial thyroxine-binding globulin deficiency in a Japanese family. J Clin Endocrinol Metab 79:740-744.
14. 125I-labeled human thyroxine-binding alpha globulin and its turnover in normal and hypothyroid subjects. J Clin Invest 56:79-87.
15. Refetoff S, Fang VS, Marshall JS, Robin NI 1976 Metabolism of thyroxine-binding globulin in man: Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess. J Clin Invest 57:485-495.
16. Hansen J 1974 Increased fecal thyroxine losses: With protein-losing enteropathy. NY State J Med 74:1993-1995.
17. Musa BU, Seal US, Doe RP 1967 Excretion of corticosteroidbinding globulin, thyroxine-binding globulin and total protein in adult males with nephrosis: Effects of sex hormones. J Clin Endocrinol Metab 27:768-774.
18. Nicoloff JT, Dowling JT, Patton DD 1964 Inheritance of decreased thyroxine-binding by the thyroxine-binding globulin. J Clin Endocrinol 24:294-298.
19. Kraemer E, Wiswell JG 1968 Familial thyroxine-binding globulin deficiency. Metabolism 17:260-262.
20. Refetoff S, Robin NI, Alper CA 1972 Study of four new kindreds with inherited thyroxine binding globulin (TBG) abnormalities. Possible mutations of a single gene locus. J Clin Invest 51:848-867.
21. Inagaki A, Miura Y, Mori Y, Saito H, Seo H, Oiso Y 1996 Gene screening of thyroxine-binding globulin (TBG) deficiencies in the Japanese: Only two mutations account for TBG deficiencies in the Japanese. J Clin Endocrinol Metab 81:580-585.
22. Yamagata K, Oda N, Kaisaki P, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwakaki N, Hansen T, Pedersen O, Polonsky KS, Turner RC, Velho G, Chévre J-C, Froguel P, Bel GI 1996 Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). Nature 384:455-458.
23. Frayling TM, Bulman MP, Ellard S, Appleton M, Dronsfield MJ, Amckie ASR, Baird JD, Kaisaki PJ, Yamagata K, Bell GI, Bain SC, Hattersley AT 1997 Mutations in the hepatocyte nuclear factor-la gene are a common cause of maturity-onset diabetes of the young in the UK. Diabetes 46:720-725.