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Volumn 79, Issue 5, 2013, Pages 595-605

Different causes of reduced sensitivity to thyroid hormone: Diagnosis and clinical management

Author keywords

[No Author keywords available]

Indexed keywords

3,3',5 TRIIODOTHYROACETIC ACID SULFATE; ANTICONVULSIVE AGENT; ANTIOXIDANT; ATENOLOL; BINDING PROTEIN; CARRIER PROTEIN; CELL NUCLEUS RECEPTOR; DIIODOTHYROPROPIONIC ACID; GLUTATHIONE PEROXIDASE 3; GROWTH HORMONE; LIOTHYRONINE; PROPIONIC ACID DERIVATIVE; PROPYLTHIOURACIL; PROTIRELIN; SECIS BINDING PROTEIN 2; SELENIUM; SELENOCYSTEINE; SELENOPROTEIN P; THIAMAZOLE; THYROID HORMONE RECEPTOR ALPHA; THYROID HORMONE RECEPTOR BETA; THYROXINE; THYROXINE DEIODINASE; UNCLASSIFIED DRUG;

EID: 84885328980     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12281     Document Type: Review
Times cited : (29)

References (81)
  • 1
    • 0014055213 scopus 로고
    • Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: Possible target organ refractoriness to thyroid hormone
    • Refetoff, S., DeWind, L.T., &, DeGroot, L.J., (1967) Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. Journal of Clinical Endocrinology and Metabolism, 27, 279-294.
    • (1967) Journal of Clinical Endocrinology and Metabolism , vol.27 , pp. 279-294
    • Refetoff, S.1    Dewind, L.T.2    Degroot, L.J.3
  • 2
    • 0015385899 scopus 로고
    • Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone
    • Refetoff, S., DeGroot, L.J., Benard, B., et al,. (1972) Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism, 21, 723-756.
    • (1972) Metabolism , vol.21 , pp. 723-756
    • Refetoff, S.1    Degroot, L.J.2    Benard, B.3
  • 3
    • 0022998995 scopus 로고
    • The c-erb-A gene encodes a thyroid hormone receptor
    • Weinberger, C., Thompson, C.C., Ong, E.S., et al,. (1986) The c-erb-A gene encodes a thyroid hormone receptor. Nature, 324, 641-646.
    • (1986) Nature , vol.324 , pp. 641-646
    • Weinberger, C.1    Thompson, C.C.2    Ong, E.S.3
  • 4
    • 0023227169 scopus 로고
    • Identification of a novel thyroid hormone receptor expressed in the mammalian central nervous system
    • Thompson, C.C., Weinberger, C., Lebo, R., et al,. (1987) Identification of a novel thyroid hormone receptor expressed in the mammalian central nervous system. Science, 237, 1610-1614.
    • (1987) Science , vol.237 , pp. 1610-1614
    • Thompson, C.C.1    Weinberger, C.2    Lebo, R.3
  • 5
    • 0024370742 scopus 로고
    • Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta
    • Sakurai, A., Takeda, K., Ain, K., et al,. (1989) Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. Proceedings of the National Academy of Sciences of the United States of America, 86, 8977-8981.
    • (1989) Proceedings of the National Academy of Sciences of the United States of America , vol.86 , pp. 8977-8981
    • Sakurai, A.1    Takeda, K.2    Ain, K.3
  • 6
    • 84877584509 scopus 로고    scopus 로고
    • The syndromes of reduced sensitivity to thyroid hormone
    • Dumitrescu, A.M., &, Refetoff, S., (2013) The syndromes of reduced sensitivity to thyroid hormone. Biochimica et Biophysica Acta, 1830, 3987-4003.
    • (2013) Biochimica et Biophysica Acta , vol.1830 , pp. 3987-4003
    • Dumitrescu, A.M.1    Refetoff, S.2
  • 7
    • 84859521685 scopus 로고    scopus 로고
    • Homozygous thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: Three new cases and review of the literature
    • Ferrara, A.M., Onigata, K., Ercan, O., et al,. (2012) Homozygous thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. Journal of Clinical Endocrinology and Metabolism, 97, 1328-1336.
    • (2012) Journal of Clinical Endocrinology and Metabolism , vol.97 , pp. 1328-1336
    • Ferrara, A.M.1    Onigata, K.2    Ercan, O.3
  • 8
    • 0347634343 scopus 로고    scopus 로고
    • A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
    • Dumitrescu, A.M., Liao, X.H., Best, T.B., et al,. (2004) A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. American Journal of Human Genetics, 74, 168-175.
    • (2004) American Journal of Human Genetics , vol.74 , pp. 168-175
    • Dumitrescu, A.M.1    Liao, X.H.2    Best, T.B.3
  • 9
    • 5644276275 scopus 로고    scopus 로고
    • Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
    • Friesema, E.C., Grueters, A., Biebermann, H., et al,. (2004) Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet, 364, 1435-1437.
    • (2004) Lancet , vol.364 , pp. 1435-1437
    • Friesema, E.C.1    Grueters, A.2    Biebermann, H.3
  • 10
    • 27644590509 scopus 로고    scopus 로고
    • Mutations in SECISBP2 result in abnormal thyroid hormone metabolism
    • Dumitrescu, A.M., Liao, X.H., Abdullah, M.S., et al,. (2005) Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nature Genetics, 37, 1247-1252.
    • (2005) Nature Genetics , vol.37 , pp. 1247-1252
    • Dumitrescu, A.M.1    Liao, X.H.2    Abdullah, M.S.3
  • 13
    • 77953639982 scopus 로고    scopus 로고
    • Molecular aspects of thyroid hormone actions
    • Cheng, S.Y., Leonard, J.L., &, Davis, P.J., (2010) Molecular aspects of thyroid hormone actions. Endocrine Reviews, 31, 139-170.
    • (2010) Endocrine Reviews , vol.31 , pp. 139-170
    • Cheng, S.Y.1    Leonard, J.L.2    Davis, P.J.3
  • 14
    • 43549099941 scopus 로고    scopus 로고
    • Multigenic control of thyroid hormone functions in the nervous system
    • Nunez, J., Celi, F.S., Ng, L., et al,. (2008) Multigenic control of thyroid hormone functions in the nervous system. Molecular and Cellular Endocrinology, 287, 1-12.
    • (2008) Molecular and Cellular Endocrinology , vol.287 , pp. 1-12
    • Nunez, J.1    Celi, F.S.2    Ng, L.3
  • 15
    • 0036191639 scopus 로고    scopus 로고
    • Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases
    • Bianco, A.C., Salvatore, D., Gereben, B., et al,. (2002) Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases. Endocrine Reviews, 23, 38-89.
    • (2002) Endocrine Reviews , vol.23 , pp. 38-89
    • Bianco, A.C.1    Salvatore, D.2    Gereben, B.3
  • 16
    • 57349119069 scopus 로고    scopus 로고
    • Cellular and molecular basis of deiodinase-regulated thyroid hormone signaling
    • Gereben, B., Zavacki, A.M., Ribich, S., et al,. (2008) Cellular and molecular basis of deiodinase-regulated thyroid hormone signaling. Endocrine Reviews, 29, 898-938.
    • (2008) Endocrine Reviews , vol.29 , pp. 898-938
    • Gereben, B.1    Zavacki, A.M.2    Ribich, S.3
  • 17
    • 0037961036 scopus 로고    scopus 로고
    • Reduced activation and increased inactivation of thyroid hormone in tissues of critically ill patients
    • Peeters, R.P., Wouters, P.J., Kaptein, E., et al,. (2003) Reduced activation and increased inactivation of thyroid hormone in tissues of critically ill patients. Journal of Clinical Endocrinology and Metabolism, 88, 3202-3211.
    • (2003) Journal of Clinical Endocrinology and Metabolism , vol.88 , pp. 3202-3211
    • Peeters, R.P.1    Wouters, P.J.2    Kaptein, E.3
  • 18
    • 84877584150 scopus 로고    scopus 로고
    • Role of the type 2 iodothyronine deiodinase (D2) in the control of thyroid hormone signaling
    • Arrojo, E.D.R., Fonseca, T.L., Werneck-de-Castro, J.P., et al,. (2013) Role of the type 2 iodothyronine deiodinase (D2) in the control of thyroid hormone signaling. Biochimica et Biophysica Acta, 1830, 3956-3964.
    • (2013) Biochimica et Biophysica Acta , vol.1830 , pp. 3956-3964
    • Arrojo, E.D.R.1    Fonseca, T.L.2    Werneck-De-Castro, J.P.3
  • 19
    • 84871682430 scopus 로고    scopus 로고
    • Cerebellar abnormalities in mice lacking type 3 deiodinase and partial reversal of phenotype by deletion of thyroid hormone receptor alpha1
    • Peeters, R.P., Hernandez, A., Ng, L., et al,. (2013) Cerebellar abnormalities in mice lacking type 3 deiodinase and partial reversal of phenotype by deletion of thyroid hormone receptor alpha1. Endocrinology, 154, 550-561.
    • (2013) Endocrinology , vol.154 , pp. 550-561
    • Peeters, R.P.1    Hernandez, A.2    Ng, L.3
  • 21
    • 0141891099 scopus 로고    scopus 로고
    • Manning Fox JE, Halestrap AP, Visser TJ. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter
    • Friesema, E.C., Ganguly, S., &, Abdalla, A., (2003) Manning Fox JE, Halestrap AP, Visser TJ. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. Journal of Biological Chemistry, 278, 40128-40135.
    • (2003) Journal of Biological Chemistry , vol.278 , pp. 40128-40135
    • Friesema, E.C.1    Ganguly, S.2    Abdalla, A.3
  • 22
    • 33751536051 scopus 로고    scopus 로고
    • Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism
    • Friesema, E.C., Kuiper, G.G., Jansen, J., et al,. (2006) Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism. Molecular Endocrinology, 20, 2761-2772.
    • (2006) Molecular Endocrinology , vol.20 , pp. 2761-2772
    • Friesema, E.C.1    Kuiper, G.G.2    Jansen, J.3
  • 23
    • 44649089035 scopus 로고    scopus 로고
    • Effective cellular uptake and efflux of thyroid hormone by human monocarboxylate transporter 10
    • Friesema, E.C., Jansen, J., Jachtenberg, J.W., et al,. (2008) Effective cellular uptake and efflux of thyroid hormone by human monocarboxylate transporter 10. Molecular Endocrinology, 22, 1357-1369.
    • (2008) Molecular Endocrinology , vol.22 , pp. 1357-1369
    • Friesema, E.C.1    Jansen, J.2    Jachtenberg, J.W.3
  • 24
    • 0035907362 scopus 로고    scopus 로고
    • Expression cloning of a Na+-independent aromatic amino acid transporter with structural similarity to H+/monocarboxylate transporters
    • Kim, D.K., Kanai, Y., Chairoungdua, A., et al,. (2001) Expression cloning of a Na+-independent aromatic amino acid transporter with structural similarity to H+/monocarboxylate transporters. Journal of Biological Chemistry, 276, 17221-17228.
    • (2001) Journal of Biological Chemistry , vol.276 , pp. 17221-17228
    • Kim, D.K.1    Kanai, Y.2    Chairoungdua, A.3
  • 25
    • 0036793106 scopus 로고    scopus 로고
    • Identification of a novel human organic anion transporting polypeptide as a high affinity thyroxine transporter
    • Pizzagalli, F., Hagenbuch, B., Stieger, B., et al,. (2002) Identification of a novel human organic anion transporting polypeptide as a high affinity thyroxine transporter. Molecular Endocrinology, 16, 2283-2296.
    • (2002) Molecular Endocrinology , vol.16 , pp. 2283-2296
    • Pizzagalli, F.1    Hagenbuch, B.2    Stieger, B.3
  • 26
    • 78650916392 scopus 로고    scopus 로고
    • Minireview: Thyroid hormone transporters: The knowns and the unknowns
    • Visser, W.E., Friesema, E.C., &, Visser, T.J., (2011) Minireview: thyroid hormone transporters: the knowns and the unknowns. Molecular Endocrinology, 25, 1-14.
    • (2011) Molecular Endocrinology , vol.25 , pp. 1-14
    • Visser, W.E.1    Friesema, E.C.2    Visser, T.J.3
  • 27
    • 20544454120 scopus 로고    scopus 로고
    • Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene
    • Schwartz, C.E., May, M.M., Carpenter, N.J., et al,. (2005) Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. American Journal of Human Genetics, 77, 41-53.
    • (2005) American Journal of Human Genetics , vol.77 , pp. 41-53
    • Schwartz, C.E.1    May, M.M.2    Carpenter, N.J.3
  • 28
    • 58349086340 scopus 로고    scopus 로고
    • Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations
    • Visser, W.E., Jansen, J., Friesema, E.C., et al,. (2009) Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. Human Mutation, 30, 29-38.
    • (2009) Human Mutation , vol.30 , pp. 29-38
    • Visser, W.E.1    Jansen, J.2    Friesema, E.C.3
  • 29
    • 33748455238 scopus 로고    scopus 로고
    • Mechanisms of disease: Psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8
    • Friesema, E.C., Jansen, J., Heuer, H., et al,. (2006) Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8. Nature Clinical Practice Endocrinology & Metabolism, 2, 512-523.
    • (2006) Nature Clinical Practice Endocrinology & Metabolism , vol.2 , pp. 512-523
    • Friesema, E.C.1    Jansen, J.2    Heuer, H.3
  • 30
    • 34347216037 scopus 로고    scopus 로고
    • Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine
    • Jansen, J., Friesema, E.C., Kester, M.H., et al,. (2007) Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. Journal of Clinical Endocrinology and Metabolism, 92, 2378-2381.
    • (2007) Journal of Clinical Endocrinology and Metabolism , vol.92 , pp. 2378-2381
    • Jansen, J.1    Friesema, E.C.2    Kester, M.H.3
  • 31
    • 74949127411 scopus 로고    scopus 로고
    • Consequences of monocarboxylate transporter 8 deficiency for renal transport and metabolism of thyroid hormones in mice
    • Trajkovic-Arsic, M., Visser, T.J., Darras, V.M., et al,. (2010) Consequences of monocarboxylate transporter 8 deficiency for renal transport and metabolism of thyroid hormones in mice. Endocrinology, 151, 802-809.
    • (2010) Endocrinology , vol.151 , pp. 802-809
    • Trajkovic-Arsic, M.1    Visser, T.J.2    Darras, V.M.3
  • 32
    • 77956379884 scopus 로고    scopus 로고
    • Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion
    • Di Cosmo, C., Liao, X.H., Dumitrescu, A.M., et al,. (2010) Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. The Journal of Clinical Investigation, 120, 3377-3388.
    • (2010) The Journal of Clinical Investigation , vol.120 , pp. 3377-3388
    • Di Cosmo, C.1    Liao, X.H.2    Dumitrescu, A.M.3
  • 33
    • 77957284457 scopus 로고    scopus 로고
    • Impact of monocarboxylate transporter-8 deficiency on the hypothalamus-pituitary-thyroid axis in mice
    • Trajkovic-Arsic, M., Muller, J., Darras, V.M., et al,. (2010) Impact of monocarboxylate transporter-8 deficiency on the hypothalamus-pituitary-thyroid axis in mice. Endocrinology, 151, 5053-5062.
    • (2010) Endocrinology , vol.151 , pp. 5053-5062
    • Trajkovic-Arsic, M.1    Muller, J.2    Darras, V.M.3
  • 34
    • 79951883954 scopus 로고    scopus 로고
    • Distinct roles of deiodinases on the phenotype of Mct8 defect: A comparison of eight different mouse genotypes
    • Liao, X.H., Di Cosmo, C., Dumitrescu, A.M., et al,. (2011) Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes. Endocrinology, 152, 1180-1191.
    • (2011) Endocrinology , vol.152 , pp. 1180-1191
    • Liao, X.H.1    Di Cosmo, C.2    Dumitrescu, A.M.3
  • 35
    • 79961231855 scopus 로고    scopus 로고
    • Thyroid status in a large cohort of patients with mental retardation: The TOP-R (Thyroid Origin of Psychomotor Retardation) study
    • Visser, W.E., de Rijke, Y.B., van Toor, H., et al,. (2011) Thyroid status in a large cohort of patients with mental retardation: the TOP-R (Thyroid Origin of Psychomotor Retardation) study. Clinical Endocrinology, 75, 395-401.
    • (2011) Clinical Endocrinology , vol.75 , pp. 395-401
    • Visser, W.E.1    De Rijke, Y.B.2    Van Toor, H.3
  • 36
    • 0030836744 scopus 로고    scopus 로고
    • Molecular basis of thyroid hormone-dependent brain development
    • Oppenheimer, J.H., &, Schwartz, H.L., (1997) Molecular basis of thyroid hormone-dependent brain development. Endocrine Reviews, 18, 462-475.
    • (1997) Endocrine Reviews , vol.18 , pp. 462-475
    • Oppenheimer, J.H.1    Schwartz, H.L.2
  • 37
    • 84870747830 scopus 로고    scopus 로고
    • Consequences of brain-specific thyroid hormone deprivation in mct8/oatp1c1 double knockout mice
    • Mayerl, S., Visser, T.J., Bauer, R., et al,. (2012) Consequences of brain-specific thyroid hormone deprivation in mct8/oatp1c1 double knockout mice. Thyroid, 22 (S1), A-2.
    • (2012) Thyroid , vol.22
    • Mayerl, S.1    Visser, T.J.2    Bauer, R.3
  • 38
    • 57349180438 scopus 로고    scopus 로고
    • Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier
    • Roberts, L.M., Woodford, K., Zhou, M., et al,. (2008) Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier. Endocrinology, 149, 6251-6261.
    • (2008) Endocrinology , vol.149 , pp. 6251-6261
    • Roberts, L.M.1    Woodford, K.2    Zhou, M.3
  • 39
    • 26244446806 scopus 로고    scopus 로고
    • Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8
    • Biebermann, H., Ambrugger, P., Tarnow, P., et al,. (2005) Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8. European Journal of Endocrinology, 153, 359-366.
    • (2005) European Journal of Endocrinology , vol.153 , pp. 359-366
    • Biebermann, H.1    Ambrugger, P.2    Tarnow, P.3
  • 40
    • 44349154242 scopus 로고    scopus 로고
    • Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter
    • Namba, N., Etani, Y., Kitaoka, T., et al,. (2008) Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter. European Journal of Pediatrics, 167, 785-791.
    • (2008) European Journal of Pediatrics , vol.167 , pp. 785-791
    • Namba, N.1    Etani, Y.2    Kitaoka, T.3
  • 41
    • 45149085203 scopus 로고    scopus 로고
    • Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8
    • Wemeau, J.L., Pigeyre, M., Proust-Lemoine, E., et al,. (2008) Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8. Journal of Clinical Endocrinology and Metabolism, 93, 2084-2088.
    • (2008) Journal of Clinical Endocrinology and Metabolism , vol.93 , pp. 2084-2088
    • Wemeau, J.L.1    Pigeyre, M.2    Proust-Lemoine, E.3
  • 42
    • 84872708609 scopus 로고    scopus 로고
    • Tetrac Can Replace Thyroid Hormone during Brain Development in Mouse Mutants Deficient in the Thyroid Hormone Transporter Mct8
    • Horn, S., Kersseboom, S., Mayerl, S., et al,. (2013) Tetrac Can Replace Thyroid Hormone During Brain Development in Mouse Mutants Deficient in the Thyroid Hormone Transporter Mct8. Endocrinology, 154, 968-979.
    • (2013) Endocrinology , vol.154 , pp. 968-979
    • Horn, S.1    Kersseboom, S.2    Mayerl, S.3
  • 43
    • 69249115321 scopus 로고    scopus 로고
    • A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport
    • Di Cosmo, C., Liao, X.H., Dumitrescu, A.M., et al,. (2009) A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology, 150, 4450-4458.
    • (2009) Endocrinology , vol.150 , pp. 4450-4458
    • Di Cosmo, C.1    Liao, X.H.2    Dumitrescu, A.M.3
  • 45
    • 78649878385 scopus 로고    scopus 로고
    • Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
    • Schoenmakers, E., Agostini, M., Mitchell, C., et al,. (2010) Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. The Journal of Clinical Investigation, 120, 4220-4235.
    • (2010) The Journal of Clinical Investigation , vol.120 , pp. 4220-4235
    • Schoenmakers, E.1    Agostini, M.2    Mitchell, C.3
  • 46
    • 70349918153 scopus 로고    scopus 로고
    • Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X)
    • Di Cosmo, C., McLellan, N., Liao, X.H., et al,. (2009) Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). Journal of Clinical Endocrinology and Metabolism, 94, 4003-4009.
    • (2009) Journal of Clinical Endocrinology and Metabolism , vol.94 , pp. 4003-4009
    • Di Cosmo, C.1    McLellan, N.2    Liao, X.H.3
  • 47
    • 62249176239 scopus 로고    scopus 로고
    • Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations
    • Schomburg, L., Dumitrescu, A.M., Liao, X.H., et al,. (2009) Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid, 19, 277-281.
    • (2009) Thyroid , vol.19 , pp. 277-281
    • Schomburg, L.1    Dumitrescu, A.M.2    Liao, X.H.3
  • 48
    • 0028871978 scopus 로고
    • Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors?
    • Hayashi, Y., Weiss, R.E., Sarne, D.H., et al,. (1995) Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? Journal of Clinical Endocrinology and Metabolism, 80, 3246-3256.
    • (1995) Journal of Clinical Endocrinology and Metabolism , vol.80 , pp. 3246-3256
    • Hayashi, Y.1    Weiss, R.E.2    Sarne, D.H.3
  • 49
    • 0026511358 scopus 로고
    • Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene
    • Takeda, K., Sakurai, A., DeGroot, L.J., et al,. (1992) Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. Journal of Clinical Endocrinology and Metabolism, 74, 49-55.
    • (1992) Journal of Clinical Endocrinology and Metabolism , vol.74 , pp. 49-55
    • Takeda, K.1    Sakurai, A.2    Degroot, L.J.3
  • 50
    • 34249984656 scopus 로고    scopus 로고
    • Syndromes of reduced sensitivity to thyroid hormone: Genetic defects in hormone receptors, cell transporters and deiodination
    • Refetoff, S., &, Dumitrescu, A.M., (2007) Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Practice and Research. Clinical Endocrinology and Metabolism, 21, 277-305.
    • (2007) Best Practice and Research. Clinical Endocrinology and Metabolism , vol.21 , pp. 277-305
    • Refetoff, S.1    Dumitrescu, A.M.2
  • 52
    • 77951199380 scopus 로고    scopus 로고
    • Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia
    • Mitchell, C.S., Savage, D.B., Dufour, S., et al,. (2010) Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia. The Journal of Clinical Investigation, 120, 1345-1354.
    • (2010) The Journal of Clinical Investigation , vol.120 , pp. 1345-1354
    • Mitchell, C.S.1    Savage, D.B.2    Dufour, S.3
  • 53
    • 67449123453 scopus 로고    scopus 로고
    • The skeletal phenotypes of TRalpha and TRbeta mutant mice
    • Bassett, J.H., &, Williams, G.R., (2009) The skeletal phenotypes of TRalpha and TRbeta mutant mice. Journal of Molecular Endocrinology, 42, 269-282.
    • (2009) Journal of Molecular Endocrinology , vol.42 , pp. 269-282
    • Bassett, J.H.1    Williams, G.R.2
  • 54
    • 0031786080 scopus 로고    scopus 로고
    • Changes in the degree of sialylation of carbohydrate chains modify the biological properties of circulating thyrotropin isoforms in various physiological and pathological states
    • Persani, L., Borgato, S., Romoli, R., et al,. (1998) Changes in the degree of sialylation of carbohydrate chains modify the biological properties of circulating thyrotropin isoforms in various physiological and pathological states. Journal of Clinical Endocrinology and Metabolism, 83, 2486-2492.
    • (1998) Journal of Clinical Endocrinology and Metabolism , vol.83 , pp. 2486-2492
    • Persani, L.1    Borgato, S.2    Romoli, R.3
  • 55
    • 0034456555 scopus 로고    scopus 로고
    • Quantitative assessment of pituitary resistance to thyroid hormone from plots of the logarithm of thyrotropin versus serum free thyroxine index
    • Ercan-Fang, S., Schwartz, H.L., Mariash, C.N., et al,. (2000) Quantitative assessment of pituitary resistance to thyroid hormone from plots of the logarithm of thyrotropin versus serum free thyroxine index. Journal of Clinical Endocrinology and Metabolism, 85, 2299-2303.
    • (2000) Journal of Clinical Endocrinology and Metabolism , vol.85 , pp. 2299-2303
    • Ercan-Fang, S.1    Schwartz, H.L.2    Mariash, C.N.3
  • 56
    • 0026640010 scopus 로고
    • Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions
    • Bertenshaw, R., Sarne, D., Tornari, J., et al,. (1992) Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions. Biochimica et Biophysica Acta, 1139, 307-310.
    • (1992) Biochimica et Biophysica Acta , vol.1139 , pp. 307-310
    • Bertenshaw, R.1    Sarne, D.2    Tornari, J.3
  • 57
    • 65949085589 scopus 로고    scopus 로고
    • Familial dysalbuminemic hyperthyroxinemia: A persistent diagnostic challenge
    • Cartwright, D., O'Shea, P., Rajanayagam, O., et al,. (2009) Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge. Clinical Chemistry, 55, 1044-1046.
    • (2009) Clinical Chemistry , vol.55 , pp. 1044-1046
    • Cartwright, D.1    O'Shea, P.2    Rajanayagam, O.3
  • 59
    • 0029822862 scopus 로고    scopus 로고
    • Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor
    • Weiss, R.E., Hayashi, Y., Nagaya, T., et al,. (1996) Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. Journal of Clinical Endocrinology and Metabolism, 81, 4196-4203.
    • (1996) Journal of Clinical Endocrinology and Metabolism , vol.81 , pp. 4196-4203
    • Weiss, R.E.1    Hayashi, Y.2    Nagaya, T.3
  • 60
    • 0033756801 scopus 로고    scopus 로고
    • Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes
    • Reutrakul, S., Sadow, P.M., Pannain, S., et al,. (2000) Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. Journal of Clinical Endocrinology and Metabolism, 85, 3609-3617.
    • (2000) Journal of Clinical Endocrinology and Metabolism , vol.85 , pp. 3609-3617
    • Reutrakul, S.1    Sadow, P.M.2    Pannain, S.3
  • 61
    • 0032541336 scopus 로고    scopus 로고
    • A role for helix 3 of the TRbeta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone
    • Collingwood, T.N., Wagner, R., Matthews, C.H., et al,. (1998) A role for helix 3 of the TRbeta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone. EMBO Journal, 17, 4760-4770.
    • (1998) EMBO Journal , vol.17 , pp. 4760-4770
    • Collingwood, T.N.1    Wagner, R.2    Matthews, C.H.3
  • 62
    • 0030988565 scopus 로고    scopus 로고
    • Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors
    • Yoh, S.M., Chatterjee, V.K., &, Privalsky, M.L., (1997) Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors. Molecular Endocrinology, 11, 470-480.
    • (1997) Molecular Endocrinology , vol.11 , pp. 470-480
    • Yoh, S.M.1    Chatterjee, V.K.2    Privalsky, M.L.3
  • 64
    • 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., (1993) 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. The Journal of Clinical Investigation, 91, 2408-2415.
    • (1993) The Journal of Clinical Investigation , vol.91 , pp. 2408-2415
    • Weiss, R.E.1    Weinberg, M.2    Refetoff, S.3
  • 65
    • 6444245375 scopus 로고    scopus 로고
    • Mice with a mutation in the thyroid hormone receptor beta gene spontaneously develop thyroid carcinoma: A mouse model of thyroid carcinogenesis
    • Suzuki, H., Willingham, M.C., &, Cheng, S.Y., (2002) Mice with a mutation in the thyroid hormone receptor beta gene spontaneously develop thyroid carcinoma: a mouse model of thyroid carcinogenesis. Thyroid, 12, 963-969.
    • (2002) Thyroid , vol.12 , pp. 963-969
    • Suzuki, H.1    Willingham, M.C.2    Cheng, S.Y.3
  • 66
    • 0031406558 scopus 로고    scopus 로고
    • Clinical and hormonal outcome after two years of triiodothyroacetic acid treatment in a child with thyroid hormone resistance
    • Radetti, G., Persani, L., Molinaro, G., et al,. (1997) Clinical and hormonal outcome after two years of triiodothyroacetic acid treatment in a child with thyroid hormone resistance. Thyroid, 7, 775-778.
    • (1997) Thyroid , vol.7 , pp. 775-778
    • Radetti, G.1    Persani, L.2    Molinaro, G.3
  • 67
    • 3843104749 scopus 로고    scopus 로고
    • Fetal loss associated with excess thyroid hormone exposure
    • Anselmo, J., Cao, D., Karrison, T., et al,. (2004) Fetal loss associated with excess thyroid hormone exposure. JAMA, 292, 691-695.
    • (2004) JAMA , vol.292 , pp. 691-695
    • Anselmo, J.1    Cao, D.2    Karrison, T.3
  • 69
    • 0033562967 scopus 로고    scopus 로고
    • Mice devoid of all known thyroid hormone receptors are viable but exhibit disorders of the pituitary-thyroid axis, growth, and bone maturation
    • Gothe, S., Wang, Z., Ng, L., et al,. (1999) Mice devoid of all known thyroid hormone receptors are viable but exhibit disorders of the pituitary-thyroid axis, growth, and bone maturation. Genes & Development, 13, 1329-1341.
    • (1999) Genes & Development , vol.13 , pp. 1329-1341
    • Gothe, S.1    Wang, Z.2    Ng, L.3
  • 70
    • 0037133686 scopus 로고    scopus 로고
    • Deletion of the thyroid hormone receptor alpha 1 prevents the structural alterations of the cerebellum induced by hypothyroidism
    • Morte, B., Manzano, J., Scanlan, T., et al,. (2002) Deletion of the thyroid hormone receptor alpha 1 prevents the structural alterations of the cerebellum induced by hypothyroidism. Proceedings of the National Academy of Sciences of the United States of America, 99, 3985-3989.
    • (2002) Proceedings of the National Academy of Sciences of the United States of America , vol.99 , pp. 3985-3989
    • Morte, B.1    Manzano, J.2    Scanlan, T.3
  • 71
    • 0035910075 scopus 로고    scopus 로고
    • A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice
    • Kaneshige, M., Suzuki, H., Kaneshige, K., et al,. (2001) A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice. Proceedings of the National Academy of Sciences of the United States of America, 98, 15095-15100.
    • (2001) Proceedings of the National Academy of Sciences of the United States of America , vol.98 , pp. 15095-15100
    • Kaneshige, M.1    Suzuki, H.2    Kaneshige, K.3
  • 72
    • 0036280753 scopus 로고    scopus 로고
    • A targeted thyroid hormone receptor alpha gene dominant-negative mutation (P398H) selectively impairs gene expression in differentiated embryonic stem cells
    • Liu, Y.Y., Tachiki, K.H., &, Brent, G.A., (2002) A targeted thyroid hormone receptor alpha gene dominant-negative mutation (P398H) selectively impairs gene expression in differentiated embryonic stem cells. Endocrinology, 143, 2664-2672.
    • (2002) Endocrinology , vol.143 , pp. 2664-2672
    • Liu, Y.Y.1    Tachiki, K.H.2    Brent, G.A.3
  • 73
    • 34948900219 scopus 로고    scopus 로고
    • A point mutation in the activation function 2 domain of thyroid hormone receptor alpha1 expressed after CRE-mediated recombination partially recapitulates hypothyroidism
    • Quignodon, L., Vincent, S., Winter, H., et al,. (2007) A point mutation in the activation function 2 domain of thyroid hormone receptor alpha1 expressed after CRE-mediated recombination partially recapitulates hypothyroidism. Molecular Endocrinology, 21, 2350-2360.
    • (2007) Molecular Endocrinology , vol.21 , pp. 2350-2360
    • Quignodon, L.1    Vincent, S.2    Winter, H.3
  • 74
    • 18644374062 scopus 로고    scopus 로고
    • Retardation of post-natal development caused by a negatively acting thyroid hormone receptor alpha1
    • Tinnikov, A., Nordstrom, K., Thoren, P., et al,. (2002) Retardation of post-natal development caused by a negatively acting thyroid hormone receptor alpha1. EMBO Journal, 21, 5079-5087.
    • (2002) EMBO Journal , vol.21 , pp. 5079-5087
    • Tinnikov, A.1    Nordstrom, K.2    Thoren, P.3
  • 75
    • 55649089643 scopus 로고    scopus 로고
    • Severe psychomotor and metabolic damages caused by a mutant thyroid hormone receptor alpha 1 in mice: Can patients with a similar mutation be found and treated?
    • Vennstrom, B., Mittag, J., &, Wallis, K., (2008) Severe psychomotor and metabolic damages caused by a mutant thyroid hormone receptor alpha 1 in mice: can patients with a similar mutation be found and treated? Acta Paediatrica, 97, 1605-1610.
    • (2008) Acta Paediatrica , vol.97 , pp. 1605-1610
    • Vennstrom, B.1    Mittag, J.2    Wallis, K.3
  • 76
    • 84879994549 scopus 로고    scopus 로고
    • Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRalpha1 receptor; Consequences of LT4 treatment
    • van Mullem, A.A., Chrysis, D., Eythimiadou, A., et al,. (2013) Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRalpha1 receptor; consequences of LT4 treatment. Journal of Clinical Endocrinology and Metabolism, 98, 3029-3038.
    • (2013) Journal of Clinical Endocrinology and Metabolism , vol.98 , pp. 3029-3038
    • Van Mullem, A.A.1    Chrysis, D.2    Eythimiadou, A.3
  • 77
    • 0029643769 scopus 로고
    • A structural role for hormone in the thyroid hormone receptor
    • Wagner, R.L., Apriletti, J.W., McGrath, M.E., et al,. (1995) A structural role for hormone in the thyroid hormone receptor. Nature, 378, 690-697.
    • (1995) Nature , vol.378 , pp. 690-697
    • Wagner, R.L.1    Apriletti, J.W.2    McGrath, M.E.3
  • 78
    • 79953746931 scopus 로고    scopus 로고
    • Thyroid hormone receptor alpha and regulation of type 3 deiodinase
    • Barca-Mayo, O., Liao, X.H., Alonso, M., et al,. (2011) Thyroid hormone receptor alpha and regulation of type 3 deiodinase. Molecular Endocrinology, 25, 575-583.
    • (2011) Molecular Endocrinology , vol.25 , pp. 575-583
    • Barca-Mayo, O.1    Liao, X.H.2    Alonso, M.3
  • 80
    • 24944475104 scopus 로고    scopus 로고
    • Anxiety, memory impairment, and locomotor dysfunction caused by a mutant thyroid hormone receptor alpha1 can be ameliorated by T3 treatment
    • Venero, C., Guadano-Ferraz, A., Herrero, A.I., et al,. (2005) Anxiety, memory impairment, and locomotor dysfunction caused by a mutant thyroid hormone receptor alpha1 can be ameliorated by T3 treatment. Genes & Development, 19, 2152-2163.
    • (2005) Genes & Development , vol.19 , pp. 2152-2163
    • Venero, C.1    Guadano-Ferraz, A.2    Herrero, A.I.3
  • 81
    • 39749171735 scopus 로고    scopus 로고
    • Locomotor deficiencies and aberrant development of subtype-specific GABAergic interneurons caused by an unliganded thyroid hormone receptor alpha1
    • Wallis, K., Sjogren, M., van Hogerlinden, M., et al,. (2008) Locomotor deficiencies and aberrant development of subtype-specific GABAergic interneurons caused by an unliganded thyroid hormone receptor alpha1. Journal of Neuroscience, 28, 1904-1915.
    • (2008) Journal of Neuroscience , vol.28 , pp. 1904-1915
    • Wallis, K.1    Sjogren, M.2    Van Hogerlinden, M.3


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