메뉴 건너뛰기




Volumn 28, Issue 6, 2005, Pages 379-383

Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family

Author keywords

Autoimmune thyroiditis; Mutation; Resistance to thyroid hormone; Thyroid hormone receptor

Indexed keywords

ALANINE; CYTOSINE; GENOMIC DNA; GUANINE; LIOTHYRONINE; PROLINE; THYROID ANTIBODY; THYROID HORMONE RECEPTOR; AUTOANTIBODY; THYROID HORMONE; THYROID HORMONE RECEPTOR ALPHA;

EID: 23444451622     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03347207     Document Type: Article
Times cited : (24)

References (23)
  • 1
    • 0028287579 scopus 로고
    • The variable clinical phenotype in thyroid hormone resistance syndrome
    • Beck-Peccoz P, Chatterjee VKK. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid 1994, 4: 225-32.
    • (1994) Thyroid , vol.4 , pp. 225-232
    • Beck-Peccoz, P.1    Chatterjee, V.K.K.2
  • 2
    • 0028882610 scopus 로고
    • Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health prospective study
    • Brucker-Davis F, Skarulis MC, Grace MB, et al. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health prospective study. Ann Intern Med 1995, 123: 573-83.
    • (1995) Ann Intern Med , vol.123 , pp. 573-583
    • Brucker-Davis, F.1    Skarulis, M.C.2    Grace, M.B.3
  • 3
    • 0027241002 scopus 로고
    • The syndromes of resistance to thyroid hormone
    • Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev 1993, 14: 348-99.
    • (1993) Endocr Rev , vol.14 , pp. 348-399
    • Refetoff, S.1    Weiss, R.E.2    Usala, S.J.3
  • 4
    • 0028871978 scopus 로고
    • Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-β receptors?
    • Hayashi Y, Weiss RE, Same DH, et al. Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-β receptors? J Clin Endocrinol Metab 1995, 80: 3246-56.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 3246-3256
    • Hayashi, Y.1    Weiss, R.E.2    Same, D.H.3
  • 5
    • 0027392870 scopus 로고
    • An arginine to histidine mutation in codon 311 of the C-erbAβ gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype
    • Geffner ME, Su F, Ross NS, et al. An arginine to histidine mutation in codon 311 of the C-erbAβ gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype. J Clin Invest 1993, 91: 538-46.
    • (1993) J Clin Invest , vol.91 , pp. 538-546
    • Geffner, M.E.1    Su, F.2    Ross, N.S.3
  • 6
    • 0027281426 scopus 로고
    • 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
    • Weiss RE, Weinberg M, Refetoff S. 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, 91: 2408-15.
    • (1993) J Clin Invest , vol.91 , pp. 2408-2415
    • Weiss, R.E.1    Weinberg, M.2    Refetoff, S.3
  • 7
    • 0030901251 scopus 로고    scopus 로고
    • Phenotype differences of resistance to thyroid hormone (RTH) in two unrelated families with identical mutations in the thyroid hormone receptor β gene (R320C)
    • Weiss RE, Tunca H, Knapple WL, Faas FH, Refetoff S. Phenotype differences of resistance to thyroid hormone (RTH) in two unrelated families with identical mutations in the thyroid hormone receptor β gene (R320C). Thyroid 1997, 7: 35-8.
    • (1997) Thyroid , vol.7 , pp. 35-38
    • Weiss, R.E.1    Tunca, H.2    Knapple, W.L.3    Faas, F.H.4    Refetoff, S.5
  • 9
    • 0027930409 scopus 로고
    • Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone: Identification of thirteen novel mutations in the thyroid hormone receptor âgene
    • Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone: identification of thirteen novel mutations in the thyroid hormone receptor âgene. J Clin Invest 1994, 94: 506-15.
    • (1994) J Clin Invest , vol.94 , pp. 506-515
    • Adams, M.1    Matthews, C.2    Collingwood, T.N.3    Tone, Y.4    Beck-Peccoz, P.5    Chatterjee, K.K.6
  • 10
    • 18544409937 scopus 로고    scopus 로고
    • Identification of eight new mutations in the c-erbAB gene of patients with resistance to thyroid hormone
    • Margotat A, Sarkissian G, Malezet-Desmoulins C, et al. Identification of eight new mutations in the c-erbAB gene of patients with resistance to thyroid hormone. Ann Endocrinol (Paris) 2001, 62: 220-5.
    • (2001) Ann Endocrinol (Paris) , vol.62 , pp. 220-225
    • Margotat, A.1    Sarkissian, G.2    Malezet-Desmoulins, C.3
  • 11
    • 0026533459 scopus 로고
    • Autoimmune thyroiditis: Predisposition and pathogenesis
    • Weetman AP. Autoimmune thyroiditis: predisposition and pathogenesis. Clin Endocrinol (Oxf) 1992, 36: 307-23.
    • (1992) Clin Endocrinol (Oxf) , vol.36 , pp. 307-323
    • Weetman, A.P.1
  • 12
    • 0014055213 scopus 로고
    • Familial syndrome combining deaf-mutism, stippled epiphyses, goiter, and abnormally high PBI: Possible target organ refractoriness to thyroid hormone
    • Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter, and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 1967, 27: 279-94.
    • (1967) J Clin Endocrinol Metab , vol.27 , pp. 279-294
    • Refetoff, S.1    Dewind, L.T.2    Degroot, L.J.3
  • 14
    • 0024341817 scopus 로고
    • Localization of polymorphic DNA probes frequently deleted in lung carcinoma
    • Albertson DG, Sherrington PD, Rabbitts PH. Localization of polymorphic DNA probes frequently deleted in lung carcinoma. Hum Genet 1989, 83: 127-32.
    • (1989) Hum Genet , vol.83 , pp. 127-132
    • Albertson, D.G.1    Sherrington, P.D.2    Rabbitts, P.H.3
  • 15
    • 0024370742 scopus 로고
    • Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor b
    • Sakurai A, Takeda K, Ain K, et al. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor b. Proc Nat Acad Sci USA 1989, 86: 8977-81.
    • (1989) Proc Nat Acad Sci USA , vol.86 , pp. 8977-8981
    • Sakurai, A.1    Takeda, K.2    Ain, K.3
  • 16
    • 0025141255 scopus 로고
    • A base mutation of the c-erbAb thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds
    • Usala SJ, Tennyson GE, Bale AE, et al. A base mutation of the c-erbAb thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. J Clin Invest 1990, 85: 93-100.
    • (1990) J Clin Invest , vol.85 , pp. 93-100
    • Usala, S.J.1    Tennyson, G.E.2    Bale, A.E.3
  • 17
    • 33644984168 scopus 로고    scopus 로고
    • Resistance to thyroid hormone (Chapter 81)
    • Utiger RE ed. Philadelphia: Lippincott-Williams and Wilkins. (in press)
    • Refetoff S. Resistance to thyroid hormone (Chapter 81). In: Utiger RE ed. Werner and Ingbar's The Thyroid: A Fundamental and Clinical Text. Philadelphia: Lippincott-Williams and Wilkins. 2005 (in press).
    • (2005) Werner and Ingbar's the Thyroid: A Fundamental and Clinical Text
    • Refetoff, S.1
  • 18
    • 0026511358 scopus 로고
    • Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-β gene
    • Takeda K, Sakurai A, DeGroot U, Refetoff S. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-β gene. J Clin Endocrinol Metab 1992, 74: 49-55.
    • (1992) J Clin Endocrinol Metab , vol.74 , pp. 49-55
    • Takeda, K.1    Sakurai, A.2    Degroot, U.3    Refetoff, S.4
  • 19
    • 0025732621 scopus 로고
    • Hyperthyroidism due to inappropriate secretion of thyroid-stimulating hormone: Diagnosis and management
    • Hermus A, Ross H, van Liessum P, Naber A, Smals A, Kloppenborg P. Hyperthyroidism due to inappropriate secretion of thyroid-stimulating hormone: diagnosis and management. Neth J Med 1991, 38: 193-8.
    • (1991) Neth J Med , vol.38 , pp. 193-198
    • Hermus, A.1    Ross, H.2    Van Liessum, P.3    Naber, A.4    Smals, A.5    Kloppenborg, P.6
  • 20
    • 0027771423 scopus 로고
    • Autoimmune hypothyroidism in a patient with generalized resistance to thyroid hormone
    • Robinson DB, Michaelis RD, Shakir KMM. Autoimmune hypothyroidism in a patient with generalized resistance to thyroid hormone. South Med J 1993, 86: 1395-7.
    • (1993) South Med J , vol.86 , pp. 1395-1397
    • Robinson, D.B.1    Michaelis, R.D.2    Shakir, K.M.M.3
  • 22
    • 0030340402 scopus 로고    scopus 로고
    • A mutation in the thyroid hormone receptor (TR) β gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH)
    • Refetoff S, Tunca H, Wilansky DL, Mussey VC, Weiss RE. A mutation in the thyroid hormone receptor (TR) β gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH). Thyroid 1996, 6: 571-3.
    • (1996) Thyroid , vol.6 , pp. 571-573
    • Refetoff, S.1    Tunca, H.2    Wilansky, D.L.3    Mussey, V.C.4    Weiss, R.E.5
  • 23


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.