메뉴 건너뛰기




Volumn 58, Issue 4, 2011, Pages 185-196

Thyroide hormone resistance syndromes;Síndromes de resistencia a las hormonas tiroideas

(1)  Bernal, Juan a  

a CSIC   (Spain)

Author keywords

Deiodinases; Hypothyroidism; Intellectual deficit; MCT8; Membrane transporters; Nuclear receptors

Indexed keywords

LIOTHYRONINE; THYROID HORMONE RECEPTOR BETA; THYROXINE;

EID: 79954572253     PISSN: 15750922     EISSN: 15792021     Source Type: Journal    
DOI: 10.1016/j.endonu.2011.02.001     Document Type: Short Survey
Times cited : (17)

References (76)
  • 1
    • 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 L.T., DeGroot L.J. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967, 27:279-294.
    • (1967) J Clin Endocrinol Metab. , vol.27 , pp. 279-294
    • Refetoff, S.1    DeWind, L.T.2    DeGroot, L.J.3
  • 2
    • 0028000410 scopus 로고
    • Resistance to thyroid hormone: an historical overview
    • Refetoff S. Resistance to thyroid hormone: an historical overview. Thyroid. 1994, 4:345-349.
    • (1994) Thyroid. , vol.4 , pp. 345-349
    • Refetoff, S.1
  • 3
    • 77954914770 scopus 로고    scopus 로고
    • Approach to the patient with resistance to thyroid hormone and pregnancy
    • Weiss R.E., Dumitrescu A., Refetoff S. Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010, 95:3094-3102.
    • (2010) J Clin Endocrinol Metab. , vol.95 , pp. 3094-3102
    • Weiss, R.E.1    Dumitrescu, A.2    Refetoff, S.3
  • 4
    • 77953639982 scopus 로고    scopus 로고
    • Molecular aspects of thyroid hormone actions
    • Cheng S.Y., Leonard J.L., Davis P.J. Molecular aspects of thyroid hormone actions. Endocr Rev. 2010, 31:139-170.
    • (2010) Endocr Rev. , vol.31 , pp. 139-170
    • Cheng, S.Y.1    Leonard, J.L.2    Davis, P.J.3
  • 5
    • 0031783485 scopus 로고    scopus 로고
    • Thyroid hormone receptor coactivators and corepressors
    • Koenig R.J. Thyroid hormone receptor coactivators and corepressors. Thyroid. 1998, 8:703-713.
    • (1998) Thyroid. , vol.8 , pp. 703-713
    • Koenig, R.J.1
  • 6
    • 78649731545 scopus 로고    scopus 로고
    • Distinct and histone-specific modifications mediate positive versus negative transcriptional regulation of TSHalpha promoter
    • Wang D., Xia X., Weiss R.E., Refetoff S., Yen P.M. Distinct and histone-specific modifications mediate positive versus negative transcriptional regulation of TSHalpha promoter. PLoS One. 2010, 5:e9853.
    • (2010) PLoS One. , vol.5
    • Wang, D.1    Xia, X.2    Weiss, R.E.3    Refetoff, S.4    Yen, P.M.5
  • 7
    • 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., Oppenheimer J.H. Quantitative assessment of pituitary resistance to thyroid hormone from plots of the logarithm of thyrotropin versus serum free thyroxine index. J Clin Endocrinol Metab. 2000, 85:2299-2303.
    • (2000) J Clin Endocrinol Metab. , vol.85 , pp. 2299-2303
    • Ercan-Fang, S.1    Schwartz, H.L.2    Mariash, C.N.3    Oppenheimer, J.H.4
  • 8
    • 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. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007, 21:277-305.
    • (2007) Best Pract Res Clin Endocrinol Metab. , vol.21 , pp. 277-305
    • Refetoff, S.1    Dumitrescu, A.M.2
  • 9
    • 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., Refetoff S. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta 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, L.J.3    Refetoff, S.4
  • 10
    • 0016686061 scopus 로고
    • Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of " inappropriate secretion of TSH"
    • Gershengorn M.C., Weintraub B.D. Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of " inappropriate secretion of TSH" J Clin Invest. 1975, 56:633-642.
    • (1975) J Clin Invest. , vol.56 , pp. 633-642
    • Gershengorn, M.C.1    Weintraub, B.D.2
  • 11
    • 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 M.C., Grace M.B., Benichou J., Hauser P., Wiggs E., 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, 123:572-583.
    • (1995) Ann Intern Med. , vol.123 , pp. 572-583
    • Brucker-Davis, F.1    Skarulis, M.C.2    Grace, M.B.3    Benichou, J.4    Hauser, P.5    Wiggs, E.6
  • 13
    • 0027281426 scopus 로고
    • Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thryroid hormone receptor beta gene
    • 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 thryroid hormone receptor beta gene. J Clin Invest. 1993, 91:2408-2415.
    • (1993) J Clin Invest. , vol.91 , pp. 2408-2415
    • Weiss, R.E.1    Weinberg, M.2    Refetoff, S.3
  • 14
    • 0028287579 scopus 로고
    • The variable clinical phenotype in thyroid hormone resistance syndrome
    • Beck-Peccoz P., Chatterjee V.K. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid. 1994, 4:225-232.
    • (1994) Thyroid. , vol.4 , pp. 225-232
    • Beck-Peccoz, P.1    Chatterjee, V.K.2
  • 16
    • 67249102566 scopus 로고    scopus 로고
    • Another story of mice and men: the types of RTH
    • Webb P. Another story of mice and men: the types of RTH. Proc Natl Acad Sci U S A. 2009, 106:9129-9130.
    • (2009) Proc Natl Acad Sci U S A. , vol.106 , pp. 9129-9130
    • Webb, P.1
  • 17
    • 0031006011 scopus 로고    scopus 로고
    • Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity
    • Yagi H., Pohlenz J., Hayashi Y., Sakurai A., Refetoff S. Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity. J Clin Endocrinol Metab. 1997, 82:1608-1614.
    • (1997) J Clin Endocrinol Metab. , vol.82 , pp. 1608-1614
    • Yagi, H.1    Pohlenz, J.2    Hayashi, Y.3    Sakurai, A.4    Refetoff, S.5
  • 18
    • 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., Vennstrom B., Bernal J. Deletion of the thyroid hormone receptor alpha 1 prevents the structural alterations of the cerebellum induced by hypothyroidism. Proc Natl Acad Sci U S A. 2002, 99:3985-3989.
    • (2002) Proc Natl Acad Sci U S A. , vol.99 , pp. 3985-3989
    • Morte, B.1    Manzano, J.2    Scanlan, T.3    Vennstrom, B.4    Bernal, J.5
  • 19
    • 0029995572 scopus 로고    scopus 로고
    • Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor beta: evidence for tissue-specific modulation of receptor function
    • Forrest D., Hanebuth E., Smeyne R.J., Everds N., Stewart C.L., Wehner J.M., et al. Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor beta: evidence for tissue-specific modulation of receptor function. Embo J. 1996, 15:3006-3015.
    • (1996) Embo J. , vol.15 , pp. 3006-3015
    • Forrest, D.1    Hanebuth, E.2    Smeyne, R.J.3    Everds, N.4    Stewart, C.L.5    Wehner, J.M.6
  • 20
    • 0025719665 scopus 로고
    • Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone
    • Ono S., Schwartz I.D., Mueller O.T., Root A.W., Usala S.J., Bercu B.B. Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone. J Clin Endocrinol Metab. 1991, 73:990-994.
    • (1991) J Clin Endocrinol Metab. , vol.73 , pp. 990-994
    • Ono, S.1    Schwartz, I.D.2    Mueller, O.T.3    Root, A.W.4    Usala, S.J.5    Bercu, B.B.6
  • 21
    • 0025794331 scopus 로고
    • A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor
    • Usala S.J., Menke J.B., Watson T.L., Wondisford F.E., Weintraub B.D., Berard J., et al. A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor. Mol Endocrinol. 1991, 5:327-335.
    • (1991) Mol Endocrinol. , vol.5 , pp. 327-335
    • Usala, S.J.1    Menke, J.B.2    Watson, T.L.3    Wondisford, F.E.4    Weintraub, B.D.5    Berard, J.6
  • 22
    • 0026480387 scopus 로고
    • Kindred S thyroid hormone receptor is an active and constitutive silencer and a repressor for thyroid hormone and retinoic acid responses
    • Baniahmad A., Tsai S.Y., O'Malley B.W., Tsai M.J. Kindred S thyroid hormone receptor is an active and constitutive silencer and a repressor for thyroid hormone and retinoic acid responses. Proc Natl Acad Sci U S A. 1992, 89:10633-10637.
    • (1992) Proc Natl Acad Sci U S A. , vol.89 , pp. 10633-10637
    • Baniahmad, A.1    Tsai, S.Y.2    O'Malley, B.W.3    Tsai, M.J.4
  • 23
    • 0026715866 scopus 로고
    • Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes
    • Nagaya T., Madison L.D., Jameson J.L. Thyroid hormone receptor mutants that cause resistance to thyroid hormone. Evidence for receptor competition for DNA sequences in target genes. J Biol Chem. 1992, 267:13014-13019.
    • (1992) J Biol Chem. , vol.267 , pp. 13014-13019
    • Nagaya, T.1    Madison, L.D.2    Jameson, J.L.3
  • 24
    • 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. Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors. Mol Endocrinol. 1997, 11:470-480.
    • (1997) Mol Endocrinol. , vol.11 , pp. 470-480
    • Yoh, S.M.1    Chatterjee, V.K.2    Privalsky, M.L.3
  • 25
    • 0031734217 scopus 로고    scopus 로고
    • Lack of coactivator interaction can be a mechanism for dominant negative activity by mutant thyroid hormone receptors
    • Liu Y., Takeshita A., Misiti S., Chin W.W., Yen P.M. Lack of coactivator interaction can be a mechanism for dominant negative activity by mutant thyroid hormone receptors. Endocrinology. 1998, 139:4197-4204.
    • (1998) Endocrinology. , vol.139 , pp. 4197-4204
    • Liu, Y.1    Takeshita, A.2    Misiti, S.3    Chin, W.W.4    Yen, P.M.5
  • 26
    • 33646414780 scopus 로고    scopus 로고
    • A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone
    • Wu S.Y., Cohen R.N., Simsek E., Senses D.A., Yar N.E., Grasberger H., et al. A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone. J Clin Endocrinol Metab. 2006, 91:1887-1895.
    • (2006) J Clin Endocrinol Metab. , vol.91 , pp. 1887-1895
    • Wu, S.Y.1    Cohen, R.N.2    Simsek, E.3    Senses, D.A.4    Yar, N.E.5    Grasberger, H.6
  • 27
    • 0029822862 scopus 로고    scopus 로고
    • Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor a and b genes may be due to a defective cofactor
    • Weiss R.E., Hayashi Y., Nagaya T., Petty K.J., Murata Y., Tunca H., et al. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor a and b genes may be due to a defective cofactor. J Clin Endocrinol Metab. 1996, 81:4196-4203.
    • (1996) J Clin Endocrinol Metab. , vol.81 , pp. 4196-4203
    • Weiss, R.E.1    Hayashi, Y.2    Nagaya, T.3    Petty, K.J.4    Murata, Y.5    Tunca, H.6
  • 28
    • 0033118328 scopus 로고    scopus 로고
    • Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone
    • Weiss R.E., Xu J., Ning G., Pohlenz J., O'Malley B.W., Refetoff S. Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone. Embo J. 1999, 18:1900-1904.
    • (1999) Embo J. , vol.18 , pp. 1900-1904
    • Weiss, R.E.1    Xu, J.2    Ning, G.3    Pohlenz, J.4    O'Malley, B.W.5    Refetoff, S.6
  • 29
    • 0033756801 scopus 로고    scopus 로고
    • Search for abnormalities of nuclear corepressors, coactivators and coregulators in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes
    • Reutrakul S., Sadow P.M., Pannain S., Pohlenz J., Carvalho G.A., Macchia P.E., et al. Search for abnormalities of nuclear corepressors, coactivators and coregulators in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. J Clin Endocrinol Metab. 2000, 85:3609-3617.
    • (2000) J Clin Endocrinol Metab. , vol.85 , pp. 3609-3617
    • Reutrakul, S.1    Sadow, P.M.2    Pannain, S.3    Pohlenz, J.4    Carvalho, G.A.5    Macchia, P.E.6
  • 31
    • 70350450343 scopus 로고    scopus 로고
    • Elevated free thyroxine levels detected by a neonatal screening system
    • Tajima T., Jo W., Fujikura K., Fukushi M., Fujieda K. Elevated free thyroxine levels detected by a neonatal screening system. Pediatr Res. 2009, 66:312-316.
    • (2009) Pediatr Res. , vol.66 , pp. 312-316
    • Tajima, T.1    Jo, W.2    Fujikura, K.3    Fukushi, M.4    Fujieda, K.5
  • 32
    • 0027241002 scopus 로고
    • The syndromes of resistance to thyroid hormones
    • Refetoff S., Weiss R.E., Usala S.J. The syndromes of resistance to thyroid hormones. Endocr Rev. 1993, 14:348-399.
    • (1993) Endocr Rev. , vol.14 , pp. 348-399
    • Refetoff, S.1    Weiss, R.E.2    Usala, S.J.3
  • 35
    • 84995857187 scopus 로고
    • Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation r316h in the thyroid hormone receptor beta gene
    • Weiss R.E., Stein M.A., Duck S.C., Chyna B., Phillips W., Obrien T., et al. Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation r316h in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1994, 78:1525-1528.
    • (1994) J Clin Endocrinol Metab. , vol.78 , pp. 1525-1528
    • Weiss, R.E.1    Stein, M.A.2    Duck, S.C.3    Chyna, B.4    Phillips, W.5    Obrien, T.6
  • 36
    • 77149169410 scopus 로고    scopus 로고
    • Resistance to thyroid hormone in a patient with coexisting Grave' disease
    • Sivakumar T., Chaidarun S. Resistance to thyroid hormone in a patient with coexisting Grave' disease. Thyroid. 2010, 20:213-216.
    • (2010) Thyroid. , vol.20 , pp. 213-216
    • Sivakumar, T.1    Chaidarun, S.2
  • 38
    • 0029795718 scopus 로고    scopus 로고
    • 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 V.S., Tunca H., Byrne M.M., Sunthornthepvarakul T., Weiss R.E. A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. J Clin Endocrinol Metab. 1996, 81:3335-3340.
    • (1996) J Clin Endocrinol Metab. , vol.81 , pp. 3335-3340
    • Refetoff, S.1    Marinov, V.S.2    Tunca, H.3    Byrne, M.M.4    Sunthornthepvarakul, T.5    Weiss, R.E.6
  • 39
    • 1442334376 scopus 로고    scopus 로고
    • Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine
    • Anselmo J., Refetoff S. Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid. 2004, 14:71-74.
    • (2004) Thyroid. , vol.14 , pp. 71-74
    • Anselmo, J.1    Refetoff, S.2
  • 41
    • 71049177020 scopus 로고    scopus 로고
    • 9years follow-up of a patient with pituitary form of resistance to thyroid hormones (PRTH): comparison of two treatment periods of D-thyroxine and triiodothyroacetic acid (TRIAC)
    • Guran T., Turan S., Bircan R., Bereket A. 9years follow-up of a patient with pituitary form of resistance to thyroid hormones (PRTH): comparison of two treatment periods of D-thyroxine and triiodothyroacetic acid (TRIAC). J Pediatr Endocrinol Metab. 2009, 22:971-978.
    • (2009) J Pediatr Endocrinol Metab. , vol.22 , pp. 971-978
    • Guran, T.1    Turan, S.2    Bircan, R.3    Bereket, A.4
  • 42
    • 3843104749 scopus 로고    scopus 로고
    • Fetal loss associated with excess thyroid hormone exposure
    • Anselmo J., Cao D., Karrison T., Weiss R.E., Refetoff S. Fetal loss associated with excess thyroid hormone exposure. JAMA. 2004, 292:691-695.
    • (2004) JAMA. , vol.292 , pp. 691-695
    • Anselmo, J.1    Cao, D.2    Karrison, T.3    Weiss, R.E.4    Refetoff, S.5
  • 44
    • 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., Brockmann K., Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004, 74:168-175.
    • (2004) Am J Hum Genet. , vol.74 , pp. 168-175
    • Dumitrescu, A.M.1    Liao, X.H.2    Best, T.B.3    Brockmann, K.4    Refetoff, S.5
  • 45
    • 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., Krude H., von Moers A., Reeser M., et al. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet. 2004, 364:1435-1437.
    • (2004) Lancet. , vol.364 , pp. 1435-1437
    • Friesema, E.C.1    Grueters, A.2    Biebermann, H.3    Krude, H.4    von Moers, A.5    Reeser, M.6
  • 46
    • 78650916392 scopus 로고    scopus 로고
    • Minireview: Thyroid Hormone Transporters: The Knowns and the Unknowns
    • Visser W.E., Friesema E.C., Visser T.J. Minireview: Thyroid Hormone Transporters: The Knowns and the Unknowns. Mol Endocrinol. 2011, 25:1-14.
    • (2011) Mol Endocrinol. , vol.25 , pp. 1-14
    • Visser, W.E.1    Friesema, E.C.2    Visser, T.J.3
  • 48
    • 0000033737 scopus 로고
    • Some examples of the inheritance of mental deficiency: apparently sex-linked iodicy and microcephaly
    • Allan W., Herndon C.N., Dudley F.C. Some examples of the inheritance of mental deficiency: apparently sex-linked iodicy and microcephaly. Am J Ment Defic. 1944, 48:325-334.
    • (1944) Am J Ment Defic. , vol.48 , pp. 325-334
    • Allan, W.1    Herndon, C.N.2    Dudley, F.C.3
  • 50
    • 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., von Moers A., Schweizer U., Grueters A. Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8. Eur J Endocrinol. 2005, 153:359-366.
    • (2005) Eur J Endocrinol. , vol.153 , pp. 359-366
    • Biebermann, H.1    Ambrugger, P.2    Tarnow, P.3    von Moers, A.4    Schweizer, U.5    Grueters, A.6
  • 51
    • 34250007598 scopus 로고    scopus 로고
    • The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome
    • Schwartz C.E., Stevenson R.E. The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab. 2007, 21:307-321.
    • (2007) Best Pract Res Clin Endocrinol Metab. , vol.21 , pp. 307-321
    • Schwartz, C.E.1    Stevenson, R.E.2
  • 52
    • 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., Nakamoto Y., Nakacho M., Bessho K., et al. Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter. Eur J Pediatr. 2008, 167:785-791.
    • (2008) Eur J Pediatr. , vol.167 , pp. 785-791
    • Namba, N.1    Etani, Y.2    Kitaoka, T.3    Nakamoto, Y.4    Nakacho, M.5    Bessho, K.6
  • 54
    • 63349098754 scopus 로고    scopus 로고
    • Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation
    • Fuchs O., Pfarr N., Pohlenz J., Schmidt H. Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. Dev Med Child Neurol. 2009, 51:240-244.
    • (2009) Dev Med Child Neurol. , vol.51 , pp. 240-244
    • Fuchs, O.1    Pfarr, N.2    Pohlenz, J.3    Schmidt, H.4
  • 55
    • 78349304919 scopus 로고    scopus 로고
    • Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH
    • Boccone L., Mariotti S., Dessi V., Pruna D., Meloni A., Loudianos G. Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH. Eur J Med Genet. 2010, 53:392-395.
    • (2010) Eur J Med Genet. , vol.53 , pp. 392-395
    • Boccone, L.1    Mariotti, S.2    Dessi, V.3    Pruna, D.4    Meloni, A.5    Loudianos, G.6
  • 56
    • 28044454499 scopus 로고    scopus 로고
    • X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype
    • Holden K.R., Zuniga O.F., May M.M., Su H., Molinero M.R., Rogers R.C., et al. X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol. 2005, 20:852-857.
    • (2005) J Child Neurol. , vol.20 , pp. 852-857
    • Holden, K.R.1    Zuniga, O.F.2    May, M.M.3    Su, H.4    Molinero, M.R.5    Rogers, R.C.6
  • 57
    • 50149087316 scopus 로고    scopus 로고
    • MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
    • Frints S.G., Lenzner S., Bauters M., Jensen L.R., Van Esch H., des Portes V., et al. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur J Hum Genet. 2008, 16:1029-1037.
    • (2008) Eur J Hum Genet. , vol.16 , pp. 1029-1037
    • Frints, S.G.1    Lenzner, S.2    Bauters, M.3    Jensen, L.R.4    Van Esch, H.5    des Portes, V.6
  • 58
    • 20844451900 scopus 로고    scopus 로고
    • X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene
    • Brockmann K., Dumitrescu A.M., Best T.T., Hanefeld F., Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol. 2005, 252:663-666.
    • (2005) J Neurol. , vol.252 , pp. 663-666
    • Brockmann, K.1    Dumitrescu, A.M.2    Best, T.T.3    Hanefeld, F.4    Refetoff, S.5
  • 59
    • 33747590148 scopus 로고    scopus 로고
    • Tissue specific thyroid hormone deprivation and excess in Mct8 deficient mice
    • Dumitrescu A.M., Liao X.-H., Weiss R.E., Millen K., Refetoff S. Tissue specific thyroid hormone deprivation and excess in Mct8 deficient mice. Endocrinology. 2006, 147:4036-4043.
    • (2006) Endocrinology. , vol.147 , pp. 4036-4043
    • Dumitrescu, A.M.1    Liao, X.-H.2    Weiss, R.E.3    Millen, K.4    Refetoff, S.5
  • 60
    • 33847400151 scopus 로고    scopus 로고
    • Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8
    • Trajkovic M., Visser T.J., Mittag J., Horn S., Lukas J., Darras V.M., et al. Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8. J Clin Invest. 2007, 117:627-635.
    • (2007) J Clin Invest. , vol.117 , pp. 627-635
    • Trajkovic, M.1    Visser, T.J.2    Mittag, J.3    Horn, S.4    Lukas, J.5    Darras, V.M.6
  • 61
    • 66449128624 scopus 로고    scopus 로고
    • Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine
    • Ceballos A., Belinchon M.M., Sanchez-Mendoza E., Grijota-Martinez C., Dumitrescu A.M., Refetoff S., et al. Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. Endocrinology. 2009, 150:2491-2496.
    • (2009) Endocrinology. , vol.150 , pp. 2491-2496
    • Ceballos, A.1    Belinchon, M.M.2    Sanchez-Mendoza, E.3    Grijota-Martinez, C.4    Dumitrescu, A.M.5    Refetoff, S.6
  • 62
    • 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., Black D.S., Haggerty J.E., Tate E.H., et al. Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier. Endocrinology. 2008, 149:6251-6261.
    • (2008) Endocrinology. , vol.149 , pp. 6251-6261
    • Roberts, L.M.1    Woodford, K.2    Zhou, M.3    Black, D.S.4    Haggerty, J.E.5    Tate, E.H.6
  • 64
    • 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., Groba C., Lee S., Weih D., et al. Impact of monocarboxylate transporter-8 deficiency on the hypothalamus-pituitary-thyroid axis in mice. Endocrinology. 2010, 151:5053-5062.
    • (2010) Endocrinology. , vol.151 , pp. 5053-5062
    • Trajkovic-Arsic, M.1    Muller, J.2    Darras, V.M.3    Groba, C.4    Lee, S.5    Weih, D.6
  • 65
    • 77953158522 scopus 로고    scopus 로고
    • Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice
    • Morte B., Ceballos A., Diez D., Grijota-Martinez C., Dumitrescu A.M., Di Cosmo C., et al. Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice. Endocrinology. 2010, 151:2381-2387.
    • (2010) Endocrinology. , vol.151 , pp. 2381-2387
    • Morte, B.1    Ceballos, A.2    Diez, D.3    Grijota-Martinez, C.4    Dumitrescu, A.M.5    Di Cosmo, C.6
  • 66
    • 43249104125 scopus 로고    scopus 로고
    • 1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency
    • Sijens P.E., Rodiger L.A., Meiners L.C., Lunsing R.J. 1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency. J Clin Endocrinol Metab. 2008, 93:1854-1859.
    • (2008) J Clin Endocrinol Metab. , vol.93 , pp. 1854-1859
    • Sijens, P.E.1    Rodiger, L.A.2    Meiners, L.C.3    Lunsing, R.J.4
  • 67
    • 79953169842 scopus 로고    scopus 로고
    • Lack of action of exogenously administered T3 on the fetal rat brain despite expression of the monocarboxylate transporter 8. Endocrinology. 2011.[En prensa].
    • Grijota-Martínez M, Díez D, Morreale de Escobar G, Bernal J, Morte B. Lack of action of exogenously administered T3 on the fetal rat brain despite expression of the monocarboxylate transporter 8. Endocrinology. 2011.[En prensa].
    • Grijota-Martínez, M.1    Díez, D.2    Morreale de Escobar, G.3    Bernal, J.4    Morte, B.5
  • 68
    • 68049138998 scopus 로고    scopus 로고
    • Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome
    • Wirth E.K., Roth S., Blechschmidt C., Holter S.M., Becker L., Racz I., et al. Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome. J Neurosci. 2009, 29:9439-9449.
    • (2009) J Neurosci. , vol.29 , pp. 9439-9449
    • Wirth, E.K.1    Roth, S.2    Blechschmidt, C.3    Holter, S.M.4    Becker, L.5    Racz, I.6
  • 69
    • 79953718797 scopus 로고    scopus 로고
    • Quantitative membrane protein expression at the blood-brain barrier of adult and younger cynomolgus monkeys
    • [Epub before print].
    • Katsuaki I, Uchida Y, Ohtsuki S, Aizawa S, Kawakami H, Katsukura Y, et al. Quantitative membrane protein expression at the blood-brain barrier of adult and younger cynomolgus monkeys. J Pharmac Sci. 2011.[Epub before print].
    • (2011) J Pharmac Sci.
    • Katsuaki, I.1    Uchida, Y.2    Ohtsuki, S.3    Aizawa, S.4    Kawakami, H.5    Katsukura, Y.6
  • 71
    • 0036018280 scopus 로고    scopus 로고
    • Clinical and experimental studies on the use of 3,5-diiodothyropropionic acid, a thyroid hormone analogue, in heart failure
    • Morkin E., Pennock G.D., Spooner P.H., Bahl J.J., Goldman S. Clinical and experimental studies on the use of 3,5-diiodothyropropionic acid, a thyroid hormone analogue, in heart failure. Thyroid. 2002, 12:527-533.
    • (2002) Thyroid. , vol.12 , pp. 527-533
    • Morkin, E.1    Pennock, G.D.2    Spooner, P.H.3    Bahl, J.J.4    Goldman, S.5
  • 72
    • 58949094964 scopus 로고    scopus 로고
    • DITPA, a thyroid hormone analog to treat heart failure: phase II trial VA cooperative study
    • Goldman S., McCarren M., Morkin E., Ladenson P., Edson R., Warren S., et al. DITPA, a thyroid hormone analog to treat heart failure: phase II trial VA cooperative study. J Cardiac Failure. 2008, 14:796.
    • (2008) J Cardiac Failure. , vol.14 , pp. 796
    • Goldman, S.1    McCarren, M.2    Morkin, E.3    Ladenson, P.4    Edson, R.5    Warren, S.6
  • 73
    • 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., Weiss R.E., Refetoff S. A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology. 2009, 150:4450-4458.
    • (2009) Endocrinology. , vol.150 , pp. 4450-4458
    • Di Cosmo, C.1    Liao, X.H.2    Dumitrescu, A.M.3    Weiss, R.E.4    Refetoff, S.5
  • 74
    • 79954614568 scopus 로고    scopus 로고
    • 3,5-Diiodothyropropionic acid (DITPA) in the treatment of patients with MCT8 deficiency: a preliminary study. New York, NY: Lawson Wilkins Pediatric Endocrine Society/European Society for Pediatric Endocrinology.
    • Hameed S, Di Cosmo C, Liao XH, Weiss RE, Verge CF, Refetoff S. 3,5-Diiodothyropropionic acid (DITPA) in the treatment of patients with MCT8 deficiency: a preliminary study. New York, NY: Lawson Wilkins Pediatric Endocrine Society/European Society for Pediatric Endocrinology; 2009.
    • (2009)
    • Hameed, S.1    Di Cosmo, C.2    Liao, X.H.3    Weiss, R.E.4    Verge, C.F.5    Refetoff, S.6
  • 76


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.