메뉴 건너뛰기




Volumn 40, Issue 3, 2003, Pages 165-171

Identification of an heterozigous 1012C>T transition (R338W) in exon 9 of thyroid hormone receptor β gene in a family with generalized resistance to thyroid hormone;Identificación de una transición heterocigota 1012C>T (R338W) en el exón 9 del gen del receptor β de hormonas tiroideas en una familia con resistencia generalizada a hormonas tiroideas

Author keywords

Mutation; RTH; THRb; Thyroid hormone receptor; Thyroid hormone resistance

Indexed keywords


EID: 16344364830     PISSN: 03264610     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (13)
  • 1
    • 0027241002 scopus 로고
    • The syndromes of resistance to thyroid hormone
    • DOI 10.1210/er.14.3.348
    • Refetoff, S.; Weiss, R. E.; Usala, S. J. The syndromes of resistance to thyroid hormone. Endocr Rev 14: 348-399, 1993. (Pubitemid 23168055)
    • (1993) Endocrine Reviews , vol.14 , Issue.3 , pp. 348-399
    • Refetoff, S.1    Weiss, R.E.2    Usala, S.J.3
  • 2
    • 0038723943 scopus 로고    scopus 로고
    • Aetiology and pathogenesis of thyroid hormone resistance
    • Chatterjee, V. K. K. Aetiology and pathogenesis of thyroid hormone resistance. Topical Endocrinology 4: 2-5, 1996.
    • (1996) Topical Endocrinology , vol.4 , pp. 2-5
    • Chatterjee, V.K.K.1
  • 3
    • 0028287579 scopus 로고
    • The variable clinical phenotype in thyroid hormone resistance syndrome
    • Beck-Peccoz, P.; Chatterjee V. K. K. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid 4: 225-232, 1994. (Pubitemid 24202361)
    • (1994) Thyroid , vol.4 , Issue.2 , pp. 225-232
    • Beck-Peccoz, P.1    Chatterjee, V.K.K.2
  • 5
    • 0022998995 scopus 로고
    • The c-erb-A gene encodes a thyroid hormone receptor
    • Weinberger, C.; Thompson, C. C.; Ong, E. S. y col. The c-erb-A gene encodes a thyroid hormone receptor. Nature 324: 641-646, 1986.
    • (1986) Nature , vol.324 , pp. 641-646
    • Weinberger, C.1    Thompson, C.C.2    Ong, E.S.3
  • 6
    • 0028350581 scopus 로고
    • Nomenclature of thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: Consensus statement from the first workshop on thyroid hormone resistance
    • Beck-Peccoz, P.; Chatterjee, V. K. K.; Chin, W. W. y col. Nomenclature of thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: Consensus statement from the first workshop on thyroid hormone resistance. J Clin Endocrinol Metab 78: 990-993, 1994.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 990-993
    • Beck-Peccoz, P.1    Chatterjee, V.K.K.2    Chin, W.W.3
  • 7
    • 0019321718 scopus 로고
    • Rapid isolation of highmolecular-weight plant DNA
    • Murray, M. G.; Thompson, W. F . Rapid isolation of highmolecular-weight plant DNA. Nucleic Acid Res 8: 4321-4325, 1980.
    • (1980) Nucleic Acid Res , vol.8 , pp. 4321-4325
    • Murray, M.G.1    Thompson, W.F.2
  • 8
    • 0030944472 scopus 로고    scopus 로고
    • A new point mutation (M313T) in the thyroid hormone receptor b gene in a patient with resistance to thyroid hormone
    • Di Fulvio, M.; Chiesa, A. E.; Baranzini, S. E. y col. A new point mutation (M313T) in the thyroid h o rmone receptor b gene in a patient with re s i stance to thyroid hormone. Thyroid 7: 43-44, 1997.
    • (1997) Thyroid , vol.7 , pp. 43-44
    • Di Fulvio, M.1    Chiesa, A.E.2    Baranzini, S.E.3
  • 9
    • 0037810774 scopus 로고    scopus 로고
    • Identificación de una transversión heterocigota 1357C>A (P453T) en el exón 10 del gen del receptor de hormonas tiroideas β en una familia con resistencia a hormonas tiroideas
    • Rivolta, C. M.; Feijoo, M. C.; Targovnik y col. Identificación de una transversión heterocigota 1357C>A (P453T) en el exón 10 del gen del receptor de hormonas tiroideas β en una familia con resistencia a hormonas tiroideas. Revista Argentina de Endocrinología y Metabolismo 40: 13-22, 2003.
    • (2003) Revista Argentina de Endocrinología Y Metabolismo , vol.40 , pp. 13-22
    • Rivolta, C.M.1    Feijoo, M.C.2    Targovnik3
  • 10
    • 0026611221 scopus 로고
    • A point mutation of the T3 receptor beta-1 gene in a kindred of generalized resistance to thyroid hormone
    • Sasaki, S.; Nakamura, H.; Tagami, T. y col. A point mutation of the T3 receptor beta-1 gene in a kindred of generalized resistance to thyroid hormone. Molec Cell Endocr 84: 159-166, 1992.
    • (1992) Molec Cell Endocr , vol.84 , pp. 159-166
    • Sasaki, S.1    Nakamura, H.2    Tagami, T.3
  • 11
    • 0027528837 scopus 로고
    • Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone
    • Mixson, A. J.; Renault, J. C.; Ransom, S. y col. Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone. Clin Endocr 38: 227-234, 1993.
    • (1993) Clin Endocr , vol.38 , pp. 227-234
    • Mixson, A.J.1    Renault, J.C.2    Ransom, S.3
  • 12
    • 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, R. E.; Weinberg, M.; Refetoff, S. Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid horm o n e receptor beta gene: analysis of 15 families. J Clin Invest 91: 2408-2415, 1993. (Pubitemid 23182490)
    • (1993) Journal of Clinical Investigation , vol.91 , Issue.6 , pp. 2408-2415
    • Weiss, R.E.1    Weinberg, M.2    Refetoff, S.3
  • 13
    • 0027930409 scopus 로고
    • Genetic analysis of 29 kindre d s with generalized and pituitary resistance to thyroid hormone: Identification of thirteen novel mutations in the thyroid horm o n e receptor beta gene
    • Adams, M.; Matthews, C.; Collingwood, T. N. y col. Genetic analysis of 29 kindre d s with generalized and pituitary resistance to thyroid hormone: identification of thirteen novel mutations in the thyroid horm o n e receptor beta gene. J Clin Invest 94: 506-515, 1994.
    • (1994) J Clin Invest , vol.94 , pp. 506-515
    • Adams, M.1    Matthews, C.2    Collingwood, T.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.