메뉴 건너뛰기




Volumn 65, Issue 3, 2005, Pages 257-267

The thyroid as a model for molecular mechanisms in genetic diseases;La tiroides como modelo de mecanismos moleculares en enfermedades geneticas

Author keywords

Gene; Hypothyroidism; Mutation; Thyroid; Thyroid diseases

Indexed keywords

PENDRIN; SODIUM IODIDE SYMPORTER; THYROGLOBULIN; THYROID HORMONE; THYROID HORMONE RECEPTOR BETA; THYROID PEROXIDASE; THYROID TRANSCRIPTION FACTOR 1; THYROID TRANSCRIPTION FACTOR 2; THYROTROPIN; THYROTROPIN RECEPTOR; TRANSCRIPTION FACTOR PAX8;

EID: 21844435472     PISSN: 00257680     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (11)

References (106)
  • 1
    • 50549149000 scopus 로고
    • Deaf mutism and goiter
    • Pendred V. Deaf mutism and goiter. Lancet 1896; 2:532.
    • (1896) Lancet , vol.2 , pp. 532
    • Pendred, V.1
  • 3
    • 0000387027 scopus 로고
    • Congenital hypothyroidism with goiter: Absence of an iodide-concentring mechanism
    • Stanbury J, Chapman E. Congenital hypothyroidism with goiter: absence of an iodide-concentring mechanism. Lancet 1960; 1: 1162-5.
    • (1960) Lancet , vol.1 , pp. 1162-1165
    • Stanbury, J.1    Chapman, E.2
  • 5
    • 0041655603 scopus 로고    scopus 로고
    • Genetic disorders of the thyroid hormone system
    • Baxter JD, (eds). Philadelphia: Lippincott, Williams and Wilkins
    • Medeiros-Neto G, Knobel M, DeGroot LJ. Genetic disorders of the thyroid hormone system. In: Baxter JD, (eds). Genetics in Endocrinology. Philadelphia: Lippincott, Williams and Wilkins, 2002, p 375-402.
    • (2002) Genetics in Endocrinology , pp. 375-402
    • Medeiros-Neto, G.1    Knobel, M.2    DeGroot, L.J.3
  • 6
    • 0030053759 scopus 로고    scopus 로고
    • Cloning and characterization of the thyroid iodide transporter
    • Dai G, Levy O, Carrasco N. Cloning and characterization of the thyroid iodide transporter. Nature 1996; 379: 458-60.
    • (1996) Nature , vol.379 , pp. 458-460
    • Dai, G.1    Levy, O.2    Carrasco, N.3
  • 7
    • 8244263673 scopus 로고    scopus 로고
    • Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
    • Coyle B, Coffey R, Armour JAL, et al. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 1996; 12: 421-6.
    • (1996) Nat. Genet. , vol.12 , pp. 421-426
    • Coyle, B.1    Coffey, R.2    Armour, J.A.L.3
  • 8
    • 0029963073 scopus 로고    scopus 로고
    • Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification
    • Sheffield VC, Kraiem Z, Beck JC et al. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet 1996; 12: 424-6.
    • (1996) Nat. Genet. , vol.12 , pp. 424-426
    • Sheffield, V.C.1    Kraiem, Z.2    Beck, J.C.3
  • 9
    • 0024826133 scopus 로고
    • Molecular cloning of the thyrotropin receptor
    • Parmentier M, Libert F, Maenhaut C, et al. Molecular cloning of the thyrotropin receptor. Science 1989; 246: 1620-2.
    • (1989) Science , vol.246 , pp. 1620-1622
    • Parmentier, M.1    Libert, F.2    Maenhaut, C.3
  • 11
    • 0032513081 scopus 로고    scopus 로고
    • Structure of the human NKX2.1 gene
    • Hamdan H, Liu H, Li C, et al. Structure of the human NKX2.1 gene. Biochim Biophys Acta 1998; 1396: 336-48.
    • (1998) Biochim. Biophys. Acta , vol.1396 , pp. 336-348
    • Hamdan, H.1    Liu, H.2    Li, C.3
  • 12
    • 0031149301 scopus 로고    scopus 로고
    • FKHL15, a new human member of the forkhead gene family located on chromosome 9q22
    • Chadwick BP, Obermayr F, Frischauf AM. FKHL15, a new human member of the forkhead gene family located on chromosome 9q22. Genomics 1997; 41: 390-6.
    • (1997) Genomics , vol.41 , pp. 390-396
    • Chadwick, B.P.1    Obermayr, F.2    Frischauf, A.M.3
  • 13
    • 18344404449 scopus 로고    scopus 로고
    • TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation
    • Zannini M, Avantaggiato V, Biffali E, et al. TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation. EMBO J 1997; 16: 3185-97.
    • (1997) EMBO J. , vol.16 , pp. 3185-3197
    • Zannini, M.1    Avantaggiato, V.2    Biffali, E.3
  • 14
    • 0026497586 scopus 로고
    • PAX 8, a human paired box gene: Isolation and expression in the developing thyroid, kidney and Wilms' tumors
    • Poleev A, Fickenscher H, Mundlos S, et al. PAX 8, a human paired box gene: isolation and expression in the developing thyroid, kidney and Wilms' tumors. Development 1992; 116: 611-23.
    • (1992) Development , vol.116 , pp. 611-623
    • Poleev, A.1    Fickenscher, H.2    Mundlos, S.3
  • 17
    • 0032881334 scopus 로고    scopus 로고
    • Genomic organization of the 3′ region of the human thyroglobulin gene
    • Mendive FM, Rivolta CM, Vassart G, Targovnik HM. Genomic organization of the 3′ region of the human thyroglobulin gene. Thyroid 1999; 9: 903-12.
    • (1999) Thyroid , vol.9 , pp. 903-912
    • Mendive, F.M.1    Rivolta, C.M.2    Vassart, G.3    Targovnik, H.M.4
  • 21
    • 0037687837 scopus 로고    scopus 로고
    • Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin gene
    • Moya CM, Varela V, Rivolta CM, Mendive FM, Targovnik HM. Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin gene. Thyroid 2003; 13: 319-23.
    • (2003) Thyroid , vol.13 , pp. 319-323
    • Moya, C.M.1    Varela, V.2    Rivolta, C.M.3    Mendive, F.M.4    Targovnik, H.M.5
  • 22
    • 0036737265 scopus 로고    scopus 로고
    • Genotyping and characterization of two polymorphic microsatellite markers located within introns 29 and 30 of the human thyroglobulin gene
    • Rivolta CM, Moya CM, Mendive FM, Targovnik HM Genotyping and characterization of two polymorphic microsatellite markers located within introns 29 and 30 of the human thyroglobulin gene. Thyroid 2002; 12: 773-9.
    • (2002) Thyroid , vol.12 , pp. 773-779
    • Rivolta, C.M.1    Moya, C.M.2    Mendive, F.M.3    Targovnik, H.M.4
  • 23
    • 0030777186 scopus 로고    scopus 로고
    • Identification of a new thyroglobulin variant: A guanine-to-adenine transition resulting in the substitution of arginine 2510 by glutamine
    • Mendive FM, Rossetti LC, Vassart G, Targovnik HM. Identification of a new thyroglobulin variant: A guanine-to-adenine transition resulting in the substitution of arginine 2510 by glutamine. Thyroid 1997; 7: 587-91.
    • (1997) Thyroid , vol.7 , pp. 587-591
    • Mendive, F.M.1    Rossetti, L.C.2    Vassart, G.3    Targovnik, H.M.4
  • 24
    • 0030581289 scopus 로고    scopus 로고
    • The type-1 repeats of thyroglobulin regulate thyroglobulin degradation and T3, T4 release in thyrocytes
    • Molina F, Pau B, Granier C. The type-1 repeats of thyroglobulin regulate thyroglobulin degradation and T3, T4 release in thyrocytes. FEBS Letters 1996; 391: 229-31.
    • (1996) FEBS Letters , vol.391 , pp. 229-231
    • Molina, F.1    Pau, B.2    Granier, C.3
  • 25
    • 0030481624 scopus 로고    scopus 로고
    • Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones
    • Medeiros-Neto G, Kim PS, Yoo SE et al. Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones. J Clin Invest 1996; 98: 2838-44.
    • (1996) J. Clin. Invest. , vol.98 , pp. 2838-2844
    • Medeiros-Neto, G.1    Kim, P.S.2    Yoo, S.E.3
  • 26
    • 0033609861 scopus 로고    scopus 로고
    • Follicular thyroglobulin (TG) suppression of thyroid-restricted genes involves the apical membrane asialoglycoprotein receptor and TG phosphorylation
    • Ulianich L, Suzuki K, Mori A, et al. Follicular thyroglobulin (TG) suppression of thyroid-restricted genes involves the apical membrane asialoglycoprotein receptor and TG phosphorylation. J Biol Chem 1999; 274: 25099-107.
    • (1999) J. Biol. Chem. , vol.274 , pp. 25099-25107
    • Ulianich, L.1    Suzuki, K.2    Mori, A.3
  • 27
    • 0034629487 scopus 로고    scopus 로고
    • Role of megalin (gp330) in transcytosis of thyroglobulin by thyroid cells. A novelfunction in the control of thyroid hormone release
    • Marino M, Zheng G, Chiovato L, et al. Role of megalin (gp330) in transcytosis of thyroglobulin by thyroid cells. A novelfunction in the control of thyroid hormone release. J Biol Chem 2000; 275: 7125-37.
    • (2000) J. Biol. Chem. , vol.275 , pp. 7125-7137
    • Marino, M.1    Zheng, G.2    Chiovato, L.3
  • 28
    • 0034695442 scopus 로고    scopus 로고
    • Protein- disulfide Isomerase (PDI) in FRTL5 cells. PH-dependet thyroglobulin/PDI interactions determine a novel PDI function in the post-endoplasmic reticulum of thyrocytes
    • Metzghrani A, Courageot J, Mani JC, Pugniere M, Bastiani P, Miquelis R. Protein- disulfide Isomerase (PDI) in FRTL5 cells. PH-dependet thyroglobulin/PDI interactions determine a novel PDI function in the post-endoplasmic reticulum of thyrocytes. J Biol Chem 2000; 275: 1920-9.
    • (2000) J. Biol. Chem. , vol.275 , pp. 1920-1929
    • Metzghrani, A.1    Courageot, J.2    Mani, J.C.3    Pugniere, M.4    Bastiani, P.5    Miquelis, R.6
  • 29
    • 0024375696 scopus 로고
    • Structure of the human thyroid peroxidase gene: Comparison and relationship to the human myeloperoxidase gene
    • Kimura S, Hong Y-S, Kotani T, Othaki S, Kikkawa F. Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene. Biochemistry 1989; 28: 4481-9.
    • (1989) Biochemistry , vol.28 , pp. 4481-4489
    • Kimura, S.1    Hong, Y.-S.2    Kotani, T.3    Othaki, S.4    Kikkawa, F.5
  • 30
    • 0034725643 scopus 로고    scopus 로고
    • Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family
    • De Deken X, Wang D, Many MC, et al. Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. J Biol Chem 2000; 275: 23227-33.
    • (2000) J. Biol. Chem. , vol.275 , pp. 23227-23233
    • De Deken, X.1    Wang, D.2    Many, M.C.3
  • 31
    • 3142743113 scopus 로고    scopus 로고
    • Targeting of the dual oxidase 2 N-terminal region to the plasma membrane
    • Morand S, Agnandji D, Noel-Hudson MS, et al. Targeting of the dual oxidase 2 N-terminal region to the plasma membrane. J Biol Chem 2004; 279: 30244-51.
    • (2004) J. Biol. Chem. , vol.279 , pp. 30244-30251
    • Morand, S.1    Agnandji, D.2    Noel-Hudson, M.S.3
  • 32
    • 0036093069 scopus 로고    scopus 로고
    • Perspective: Genetic defects in the etiology of congenital hypothyroidism
    • Kopp P. Perspective: genetic defects in the etiology of congenital hypothyroidism. Endocrinology 2002; 143: 2019-24.
    • (2002) Endocrinology , vol.143 , pp. 2019-2024
    • Kopp, P.1
  • 33
    • 0036175892 scopus 로고    scopus 로고
    • Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice
    • Pohlenz J, Dumitrescu A, Zundel D, et al. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 2002; 109: 469-73.
    • (2002) J. Clin. Invest. , vol.109 , pp. 469-473
    • Pohlenz, J.1    Dumitrescu, A.2    Zundel, D.3
  • 34
    • 0036181474 scopus 로고    scopus 로고
    • Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
    • Krude H, Schütz B, Biebermann H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002; 109: 475-80.
    • (2002) J. Clin. Invest. , vol.109 , pp. 475-480
    • Krude, H.1    Schütz, B.2    Biebermann, H.3
  • 35
    • 0031820442 scopus 로고    scopus 로고
    • Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
    • Clifton-Bligh R J, Wentworth J M, Heinz P, et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 1998; 19: 399-401.
    • (1998) Nat. Genet. , vol.19 , pp. 399-401
    • Clifton-Bligh, R.J.1    Wentworth, J.M.2    Heinz, P.3
  • 36
    • 17344374131 scopus 로고    scopus 로고
    • PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
    • Macchia PE, Lapi P, Krude H, et al. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 1998; 19: 83-6.
    • (1998) Nat. Genet. , vol.19 , pp. 83-86
    • Macchia, P.E.1    Lapi, P.2    Krude, H.3
  • 37
    • 17744381340 scopus 로고    scopus 로고
    • Autosomal dominant trasmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8
    • Vilain C, Rydlewski C, Duprez L, et al. Autosomal dominant trasmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J Clin Endo-crinol Metab 2001; 86: 234-8.
    • (2001) J. Clin. Endo-crinol. Metab. , vol.86 , pp. 234-238
    • Vilain, C.1    Rydlewski, C.2    Duprez, L.3
  • 38
    • 0034885770 scopus 로고    scopus 로고
    • A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child
    • Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child. J Clin Endocrinol Metab 2001; 86: 3962-7.
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 3962-3967
    • Congdon, T.1    Nguyen, L.Q.2    Nogueira, C.R.3    Habiby, R.L.4    Medeiros-Neto, G.5    Kopp, P.6
  • 39
    • 4544229648 scopus 로고    scopus 로고
    • Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid
    • Meeus L, Gilbert B, Rydlewski C, et al. Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid. J Clin Endocrinol Metab 2004; 89: 4285-91.
    • (2004) J. Clin. Endocrinol. Metab. , vol.89 , pp. 4285-4291
    • Meeus, L.1    Gilbert, B.2    Rydlewski, C.3
  • 42
    • 21844473613 scopus 로고    scopus 로고
    • Clinical features and molecular basis of thyrotrophin resistance
    • Refetoff S. Clinical features and molecular basis of thyrotrophin resistance. Topical Endocrinol 1996; 4: 9-12.
    • (1996) Topical Endocrinol. , vol.4 , pp. 9-12
    • Refetoff, S.1
  • 43
    • 0030994365 scopus 로고    scopus 로고
    • Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
    • Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 1997; 99: 3018-24.
    • (1997) J. Clin. Invest. , vol.99 , pp. 3018-3024
    • Abramowicz, M.J.1    Duprez, L.2    Parma, J.3    Vassart, G.4    Heinrichs, C.5
  • 44
    • 0034454929 scopus 로고    scopus 로고
    • Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: Evidence for a new inactivating mutation of the TSH receptor gene
    • Tonacchera M, Agretti P, Pinchera A, et al. Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. J Clin Endocrinol Metab 2000; 85: 1001-8.
    • (2000) J. Clin. Endocrinol. Metab. , vol.85 , pp. 1001-1008
    • Tonacchera, M.1    Agretti, P.2    Pinchera, A.3
  • 45
    • 0027369421 scopus 로고
    • Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas
    • Parma J, Duprez L, Van Sande J, et al. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 1993; 365: 649-51.
    • (1993) Nature , vol.365 , pp. 649-651
    • Parma, J.1    Duprez, L.2    Van Sande, J.3
  • 46
    • 0028588698 scopus 로고
    • Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid
    • Paschke R, Tonacchera M, Van Sande J, Parma J, Vassart G. Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid. J Clin Endocrinol Metab 1994; 79: 1785-9.
    • (1994) J. Clin. Endocrinol. Metab. , vol.79 , pp. 1785-1789
    • Paschke, R.1    Tonacchera, M.2    Van Sande, J.3    Parma, J.4    Vassart, G.5
  • 47
    • 0028240982 scopus 로고
    • Germline mutations in the thyrotropin receptor gene cause non autoimmune autosomal dominant hyperthyroidism
    • Duprez L, Parma J, Van Sande J, et al. Germline mutations in the thyrotropin receptor gene cause non autoimmune autosomal dominant hyperthyroidism. Nat Genet 1994; 7: 396-401.
    • (1994) Nat. Genet. , vol.7 , pp. 396-401
    • Duprez, L.1    Parma, J.2    Van Sande, J.3
  • 50
    • 0028891649 scopus 로고
    • Congenital hyperthyroidism caused by a mutation in the thyrotropin receptor gene
    • Kopp P, Van Sande J, Parma J, et al. Congenital hyperthyroidism caused by a mutation in the thyrotropin receptor gene. N Engl J Med 1995; 332: 150-4.
    • (1995) N. Engl. J. Med. , vol.332 , pp. 150-154
    • Kopp, P.1    Van Sande, J.2    Parma, J.3
  • 51
    • 21844464412 scopus 로고    scopus 로고
    • Hyperthyroidism due to mutations that constitutively activate thyrotrophin receptors
    • Leclere J F, Vassart G. Hyperthyroidism due to mutations that constitutively activate thyrotrophin receptors. Topical Endocrinol 1996; 4: 5-8.
    • (1996) Topical Endocrinol. , vol.4 , pp. 5-8
    • Leclere, J.F.1    Vassart, G.2
  • 52
    • 0029943645 scopus 로고    scopus 로고
    • Activating mutations of the TSH receptor gene cause thyroid diseases
    • Vassart G, Van Sande J, Parma J, et al. Activating mutations of the TSH receptor gene cause thyroid diseases. An Endocrinol (Paris) 1996; 57: 50-4.
    • (1996) An. Endocrinol. (Paris) , vol.57 , pp. 50-54
    • Vassart, G.1    Van Sande, J.2    Parma, J.3
  • 53
    • 9044240477 scopus 로고    scopus 로고
    • Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia
    • Tonacchera M, Van Sande J, Cetani F, et al. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J Clin Endocrinol Metab 1996; 81: 547-54.
    • (1996) J. Clin. Endocrinol. Metab. , vol.81 , pp. 547-554
    • Tonacchera, M.1    Van Sande, J.2    Cetani, F.3
  • 54
    • 0031014717 scopus 로고    scopus 로고
    • Two autonomous nodules of a patient with multinodular goiter harbor different activating mutations of the thyrotropin receptor gene
    • Duprez L, Hermans J, Van Sande J, Dumont JE, Vassart G, Parma J. Two autonomous nodules of a patient with multinodular goiter harbor different activating mutations of the thyrotropin receptor gene. J Clin Endocrinol Metab 1997; 82: 306-8.
    • (1997) J. Clin. Endocrinol. Metab. , vol.82 , pp. 306-308
    • Duprez, L.1    Hermans, J.2    Van Sande, J.3    Dumont, J.E.4    Vassart, G.5    Parma, J.6
  • 55
    • 0036146380 scopus 로고    scopus 로고
    • Congenital secondary hypothiroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHb-subunit gene
    • Pohlenz J, Dumitrescu A, Aumann U, et al. Congenital secondary hypothiroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHb-subunit gene. J Clin Endocrinol Metab 2002; 87: 336-9.
    • (2002) J. Clin. Endocrinol. Metab. , vol.87 , pp. 336-339
    • Pohlenz, J.1    Dumitrescu, A.2    Aumann, U.3
  • 56
    • 4043162952 scopus 로고    scopus 로고
    • Four cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-b gene: Phenotypic Variability and founder effect
    • Borck G, Topaloglu AK, Korsch E, et al. Four cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-b gene: Phenotypic Variability and founder effect. J Clin Endocrinol Metab 2004; 89: 4136-41.
    • (2004) J. Clin. Endocrinol. Metab. , vol.89 , pp. 4136-4141
    • Borck, G.1    Topaloglu, A.K.2    Korsch, E.3
  • 57
    • 0026334976 scopus 로고
    • A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
    • Ieiri T, Cochaux P, Targovnik HM, et al. A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J Clin Invest 1991; 88: 1901-5.
    • (1991) J. Clin. Invest. , vol.88 , pp. 1901-1905
    • Ieiri, T.1    Cochaux, P.2    Targovnik, H.M.3
  • 58
    • 0027244729 scopus 로고
    • A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger
    • Targovnik HM, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg BL, Vassart G. A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. J Clin Endocrinol Metab 1993; 77: 210-5.
    • (1993) J. Clin. Endocrinol. Metab. , vol.77 , pp. 210-215
    • Targovnik, H.M.1    Medeiros-Neto, G.2    Varela, V.3    Cochaux, P.4    Wajchenberg, B.L.5    Vassart, G.6
  • 59
    • 0027512869 scopus 로고
    • Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism
    • Medeiros-Neto G, Targovnik HM, Vassart G. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism. Endocr Rev 1993; 14: 165-83.
    • (1993) Endocr. Rev. , vol.14 , pp. 165-183
    • Medeiros-Neto, G.1    Targovnik, H.M.2    Vassart, G.3
  • 60
    • 0033306061 scopus 로고    scopus 로고
    • A premature stopcodon in thyroglobulin mRNA results in familial goiter and moderate hypothyroidism
    • van de Graaf SAR, Ris-Stalpers C, Veenboer GJM, et al. A premature stopcodon in thyroglobulin mRNA results in familial goiter and moderate hypothyroidism. J Clin Endocrinol Metab 1999; 84: 2537-42.
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 2537-2542
    • van de Graaf, S.A.R.1    Ris-Stalpers, C.2    Veenboer, G.J.M.3
  • 61
    • 0034920875 scopus 로고    scopus 로고
    • Congenital goiter with hypothyroidism caused by a 5′ Splice Site mutation in the thyroglobulin gene
    • Targovnik HM, Rivolta CM, Mendive FM, Moya CM, Medeiros-Neto G. Congenital goiter with hypothyroidism caused by a 5′ Splice Site mutation in the thyroglobulin gene. Thyroid 2001; 11: 685-90.
    • (2001) Thyroid , vol.11 , pp. 685-690
    • Targovnik, H.M.1    Rivolta, C.M.2    Mendive, F.M.3    Moya, C.M.4    Medeiros-Neto, G.5
  • 62
    • 0041883376 scopus 로고    scopus 로고
    • Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G→A[R2223H]) resulting in fetal goitrous hypothyroidism
    • Caron P, Moya CM, Malet D, et al. Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G→A[R2223H]) resulting in fetal goitrous hypothyroidism. J Clin Endocrinol Metab 2003; 88: 3546-53.
    • (2003) J. Clin. Endocrinol. Metab. , vol.88 , pp. 3546-3553
    • Caron, P.1    Moya, C.M.2    Malet, D.3
  • 63
    • 1442327782 scopus 로고    scopus 로고
    • Two distinct compound heterozygous constellation (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a brazilian kindred with congenital goiter and defective TG synthesis
    • Gutnisky VJ, Moya CM, Rivolta CM, et al. Two distinct compound heterozygous constellation (R277X/IVS34-1G>C and R277X /R1511X) in the thyroglobulin (TG) gene in affected individuals of a brazilian kindred with congenital goiter and defective TG synthesis. J Clin Endocrinol Metab 2004; 89: 646-57.
    • (2004) J. Clin. Endocrinol. Metab. , vol.89 , pp. 646-657
    • Gutnisky, V.J.1    Moya, C.M.2    Rivolta, C.M.3
  • 64
    • 0026474438 scopus 로고
    • Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter
    • Abramowicz MJ, Targovnik HM, Varela V, et al. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J Clin Invest 1992, 90: 1200-4.
    • (1992) J. Clin. Invest. , vol.90 , pp. 1200-1204
    • Abramowicz, M.J.1    Targovnik, H.M.2    Varela, V.3
  • 66
    • 84995853515 scopus 로고
    • A 20 basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism
    • Bikker H, den Hartog MT, Baas F, Gons MH, Vulsma T, de Vijlder JJM. A 20 basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism. J Clin Endocrinol Metab 1994; 79: 248-52.
    • (1994) J. Clin. Endocrinol. Metab. , vol.79 , pp. 248-252
    • Bikker, H.1    den Hartog, M.T.2    Baas, F.3    Gons, M.H.4    Vulsma, T.5    de Vijlder, J.J.M.6
  • 67
    • 0029039137 scopus 로고
    • Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturating gradient gel electrophoresis
    • Bikker H, Vulsma T, Baas F, de Vijlder JJM. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturating gradient gel electrophoresis. Hum Mutat 1995; 6: 9-16.
    • (1995) Hum. Mutat. , vol.6 , pp. 9-16
    • Bikker, H.1    Vulsma, T.2    Baas, F.3    de Vijlder, J.J.M.4
  • 68
    • 0030013089 scopus 로고    scopus 로고
    • Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene
    • Bikker H, Waelkens JJJ, Bravenboer B, de Vijlder JJM. Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. J Clin Endocrinol Metab 1996; 81: 2076-9.
    • (1996) J. Clin. Endocrinol. Metab. , vol.81 , pp. 2076-2079
    • Bikker, H.1    Waelkens, J.J.J.2    Bravenboer, B.3    de Vijlder, J.J.M.4
  • 69
    • 0032974611 scopus 로고    scopus 로고
    • A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect
    • Kotani T, Urneki K, Yamamoto I, Maesaka H, Tachibana K, Ohtaki S. A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect. J Endocrinol 1999; 160: 267-73.
    • (1999) J. Endocrinol. , vol.160 , pp. 267-273
    • Kotani, T.1    Urneki, K.2    Yamamoto, I.3    Maesaka, H.4    Tachibana, K.5    Ohtaki, S.6
  • 70
    • 0033037655 scopus 로고    scopus 로고
    • Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: Power and limits of homozygosity mapping
    • Pannain S, Weiss RE, Jackson CE, et al. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J Clin Endocrinol Metab 1999; 84: 1061-71.
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 1061-1071
    • Pannain, S.1    Weiss, R.E.2    Jackson, C.E.3
  • 71
    • 0032768958 scopus 로고    scopus 로고
    • A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect
    • Santos CLS, Bikker H, Rego KGM, et al. A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. Clin Endocrinol 1999; 51: 165-172.
    • (1999) Clin. Endocrinol. , vol.51 , pp. 165-172
    • Santos, C.L.S.1    Bikker, H.2    Rego, K.G.M.3
  • 72
    • 0033756917 scopus 로고    scopus 로고
    • Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defect
    • (an update)
    • Bakker B, Bikker H, Vulsma T, de Randamie JSE, Wiedijk BM, de Vijlder JJM. Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defect (an update). J Clin Endocrinol Metab 2000; 85: 3708-12.
    • (2000) J. Clin. Endocrinol. Metab. , vol.85 , pp. 3708-3712
    • Bakker, B.1    Bikker, H.2    Vulsma, T.3    de Randamie, J.S.E.4    Wiedijk, B.M.5    de Vijlder, J.J.M.6
  • 74
    • 0035050820 scopus 로고    scopus 로고
    • Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism
    • Bakker B, Bikker H, Hennekam RCM, et al. Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism. J Clin Endocrinol Metab 2001; 86: 1164-8.
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 1164-1168
    • Bakker, B.1    Bikker, H.2    Hennekam, R.C.M.3
  • 75
    • 0035920812 scopus 로고    scopus 로고
    • Iodide organification defects resulting from cosegregation of mutated and null thyroid peroxidase alleles
    • Kotani T, Umeki K, Yamamoto I, Ohtaki S, Adachi M, Tachibana K. Iodide organification defects resulting from cosegregation of mutated and null thyroid peroxidase alleles. Mol Cell Endocrinol 2001; 182: 61-8.
    • (2001) Mol. Cell Endocrinol. , vol.182 , pp. 61-68
    • Kotani, T.1    Umeki, K.2    Yamamoto, I.3    Ohtaki, S.4    Adachi, M.5    Tachibana, K.6
  • 76
    • 0036738454 scopus 로고    scopus 로고
    • High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect
    • Niu DM, Hwang B, Chu YK, Liao CJ, Wang PL, Lin CY. High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. J Clin Endocrinol Metab 2002; 87: 4208-12.
    • (2002) J. Clin. Endocrinol. Metab. , vol.87 , pp. 4208-4212
    • Niu, D.M.1    Hwang, B.2    Chu, Y.K.3    Liao, C.J.4    Wang, P.L.5    Lin, C.Y.6
  • 77
    • 0036231997 scopus 로고    scopus 로고
    • Two novel missense mutations in the thyroid peroxidase gene: R665W and G771R result in a localization defect and cause congenital hypothyroidism
    • Umeki K, Kotani T, Kawano JI, et al. Two novel missense mutations in the thyroid peroxidase gene: R665W and G771R result in a localization defect and cause congenital hypothyroidism. Eur J Endocrinol 2002; 146: 491-8.
    • (2002) Eur. J. Endocrinol. , vol.146 , pp. 491-498
    • Umeki, K.1    Kotani, T.2    Kawano, J.I.3
  • 78
    • 0036120080 scopus 로고    scopus 로고
    • Mutation analysis of thyroid peroxidase gene Chinese patients with total iodide organification defect: Identification of five novel mutations
    • Wu JY, Shu SG, Yang CF, Lee CC, Tsai FJ. Mutation analysis of thyroid peroxidase gene Chinese patients with total iodide organification defect: identification of five novel mutations. J Endocrinol 2002; 172: 627-35.
    • (2002) J. Endocrinol. , vol.172 , pp. 627-635
    • Wu, J.Y.1    Shu, S.G.2    Yang, C.F.3    Lee, C.C.4    Tsai, F.J.5
  • 79
    • 0142061533 scopus 로고    scopus 로고
    • Five novel inactivating mutations in the human thyroid peroxidase gene responsible for congenital goiter and iodide organification defect
    • Rivolta CM, Esperante SA, Gruñeiro-Papendick L, et al. Five novel inactivating mutations in the human thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. Human Mutation 2003; 22: 259.
    • (2003) Human Mutation , vol.22 , pp. 259
    • Rivolta, C.M.1    Esperante, S.A.2    Gruñeiro-Papendick, L.3
  • 80
    • 0037063119 scopus 로고    scopus 로고
    • Inactiving mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism
    • Moreno JC, Bikker H, Kempers MJE, et al. Inactiving mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 2002; 347: 95-102.
    • (2002) N. Engl. J. Med. , vol.347 , pp. 95-102
    • Moreno, J.C.1    Bikker, H.2    Kempers, M.J.E.3
  • 81
    • 0031156646 scopus 로고    scopus 로고
    • Congenital hypothyroidism caused by a mutation in the Na+/I-symporter
    • Miki K, Harada T, Miyai K, Takai SI, Amino N. Congenital hypothyroidism caused by a mutation in the Na+/I-symporter. Nat Genet 1997; 16: 124-5.
    • (1997) Nat. Genet. , vol.16 , pp. 124-125
    • Miki, K.1    Harada, T.2    Miyai, K.3    Takai, S.I.4    Amino, N.5
  • 82
    • 0031576397 scopus 로고    scopus 로고
    • Hypothyroidism in a brazilian kindred due to iodide trapping defect caused by homozygous mutation in the sodium/iodide symporter gene
    • Pohlenz J, Medeiros-Neto G, Gross J L, Silveiro S P, Knobel M, Refetoff S. Hypothyroidism in a brazilian kindred due to iodide trapping defect caused by homozygous mutation in the sodium/iodide symporter gene. Biochem Biophys Res Commun 1997; 240: 488-91.
    • (1997) Biochem. Biophys. Res. Commun. , vol.240 , pp. 488-491
    • Pohlenz, J.1    Medeiros-Neto, G.2    Gross, J.L.3    Silveiro, S.P.4    Knobel, M.5    Refetoff, S.6
  • 83
    • 0032031728 scopus 로고    scopus 로고
    • Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3′ splice site
    • Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S. Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3′ splice site. J Clin Invest 1998; 101: 1028-35.
    • (1998) J. Clin. Invest. , vol.101 , pp. 1028-1035
    • Pohlenz, J.1    Rosenthal, I.M.2    Weiss, R.E.3    Jhiang, S.M.4    Burant, C.5    Refetoff, S.6
  • 84
    • 0033762041 scopus 로고    scopus 로고
    • Pendred syndrome and genetic defects in thyroid hormone synthesis
    • Kopp P. Pendred syndrome and genetic defects in thyroid hormone synthesis. Reviews Endocr Metab Dis 2000; 1: 109-121.
    • (2000) Reviews Endocr. Metab. Dis. , vol.1 , pp. 109-121
    • Kopp, P.1
  • 85
    • 0038578135 scopus 로고    scopus 로고
    • Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation
    • Borck G, Roth C, Martiné U, Wildhardt G, Pohlenz J. Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. J Clin Endocrinol Metab 2003; 88: 2916-21.
    • (2003) J. Clin. Endocrinol. Metab. , vol.88 , pp. 2916-2921
    • Borck, G.1    Roth, C.2    Martiné, U.3    Wildhardt, G.4    Pohlenz, J.5
  • 86
    • 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
  • 87
    • 0030060417 scopus 로고    scopus 로고
    • Syndrome of resistance to thyroid hormone: Insights into thyroid hormone action
    • Kopp P, Kitajima K, Jameson JL. Syndrome of resistance to thyroid hormone: insights into thyroid hormone action. Proc Soc Exp Biol Med 1996; 211:49-61.
    • (1996) Proc. Soc. Exp. Biol. Med. , vol.211 , pp. 49-61
    • Kopp, P.1    Kitajima, K.2    Jameson, J.L.3
  • 89
  • 90
    • 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 β gene
    • Weiss RE, Stein MA, Duck SC, 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 β gene. J Clin Endocrinol Metab 1994; 78: 1525-8.
    • (1994) J. Clin. Endocrinol. Metab. , vol.78 , pp. 1525-1528
    • Weiss, R.E.1    Stein, M.A.2    Duck, S.C.3
  • 91
    • 0028022074 scopus 로고
    • Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor β gene resulting in the replacement of the normal proline 453 with serine
    • Refetoff S, Weiss RE, Wing JR, Sarne D, Chyna B, Hayashi Y. Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor β gene resulting in the replacement of the normal proline 453 with serine. Thyroid 1994; 4: 249-54.
    • (1994) Thyroid , vol.4 , pp. 249-254
    • Refetoff, S.1    Weiss, R.E.2    Wing, J.R.3    Sarne, D.4    Chyna, B.5    Hayashi, Y.6
  • 92
  • 93
    • 0028882610 scopus 로고
    • Genetic and clinical features of 42 kindred with resistance to thyroid hormone
    • Brucker-Davis F, Skarulis MC, Grace MB, et al. Genetic and clinical features of 42 kindred with resistance to thyroid hormone. Ann Int Med 1995; 123: 572-83.
    • (1995) Ann. Int. Med. , vol.123 , pp. 572-583
    • Brucker-Davis, F.1    Skarulis, M.C.2    Grace, M.B.3
  • 94
    • 0029762751 scopus 로고    scopus 로고
    • A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH)
    • Weiss RE, Tunca H, Gerstein H C, Refetoff S. A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH). Thyroid 1996; 6: 311-2.
    • (1996) Thyroid , vol.6 , pp. 311-312
    • Weiss, R.E.1    Tunca, H.2    Gerstein, H.C.3    Refetoff, S.4
  • 95
    • 0030045717 scopus 로고    scopus 로고
    • New point mutation (R243W) in the hormone binding domain of the c-erbA β-1 gene in a family with generalized resistance to thyroid hormone
    • Pohlenz J, Schönberger W, Wemme H, Winterpacht A, Wirth S, Zabel B. New point mutation (R243W) in the hormone binding domain of the c-erbA β-1 gene in a family with generalized resistance to thyroid hormone. Hum Mutat 1996; 7: 79-81.
    • (1996) Hum. Mutat. , vol.7 , pp. 79-81
    • Pohlenz, J.1    Schönberger, W.2    Wemme, H.3    Winterpacht, A.4    Wirth, S.5    Zabel, B.6
  • 96
    • 0031006011 scopus 로고    scopus 로고
    • Resistance to thyroid hormone caused by two mutant thyroid hormone receptor β, R243Q and R243W, with marked impairment of function that cannot be explained by altered in-vitro 3,5,3′-triiodothyronine binding affinity
    • Yagi H, Pohlenz J, Hayashi Y, Sakurai A, Refetoff S. Resistance to thyroid hormone caused by two mutant thyroid hormone receptor β, R243Q and R243W, with marked impairment of function that cannot be explained by altered in-vitro 3,5,3′-triiodothyronine binding affinity. J Clin Endocrinol Metab 1997; 82: 1608-14.
    • (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
  • 97
    • 0030944472 scopus 로고    scopus 로고
    • A new point mutation (M313T) in the thyroid hormone receptor β gene in a patient with resistance to thyroid hormone
    • Di Fulvio M, Chiesa A, Baranzini S, Gruñiero-Papendieck L, Masini-Repiso A, Targovnik H. A new point mutation (M313T) in the thyroid hormone receptor β gene in a patient with resistance to thyroid hormone. Thyroid 1997; 7: 43-4.
    • (1997) Thyroid , vol.7 , pp. 43-44
    • Di Fulvio, M.1    Chiesa, A.2    Baranzini, S.3    Gruñiero-Papendieck, L.4    Masini-Repiso, A.5    Targovnik, H.6
  • 98
    • 13144297177 scopus 로고    scopus 로고
    • A novel point mutation of thyroid hormone receptor β gene in a family with resistance to thyroid hormone
    • Nagashima T, Yagi H, Nagashima K, et al. A novel point mutation of thyroid hormone receptor β gene in a family with resistance to thyroid hormone. Thyroid 1997; 7: 771-3.
    • (1997) Thyroid , vol.7 , pp. 771-773
    • Nagashima, T.1    Yagi, H.2    Nagashima, K.3
  • 99
    • 0032230336 scopus 로고    scopus 로고
    • A novel TR β mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation
    • Clifton-Bligh RJ, de Zegher F, Wagner RL, et al. A novel TR β mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation. Mol Endocrinol 1998; 12: 609-21.
    • (1998) Mol. Endocrinol. , vol.12 , pp. 609-621
    • Clifton-Bligh, R.J.1    de Zegher, F.2    Wagner, R.L.3
  • 100
    • 0032999077 scopus 로고    scopus 로고
    • Association between an R338L mutation in the thyroid hormone receptor-β gene and thyrotoxic features in two unrelated kindreds with resistance to thyroid hormone
    • Menzaghi C, Balsamo A, Di Paola R, et al. Association between an R338L mutation in the thyroid hormone receptor-β gene and thyrotoxic features in two unrelated kindreds with resistance to thyroid hormone. Thyroid 1999; 9: 1-6.
    • (1999) Thyroid , vol.9 , pp. 1-6
    • Menzaghi, C.1    Balsamo, A.2    Di Paola, R.3
  • 101
    • 0033041406 scopus 로고    scopus 로고
    • A novel resistance to thyroid hormone associated with a new mutation (T329N) in the thyroid hormone receptor β gene
    • Sarkissian G, Dace A, Mesmacque A, et al. A novel resistance to thyroid hormone associated with a new mutation (T329N) in the thyroid hormone receptor β gene. Thyroid 1999; 9: 165-171.
    • (1999) Thyroid , vol.9 , pp. 165-171
    • Sarkissian, G.1    Dace, A.2    Mesmacque, A.3
  • 102
    • 0033748306 scopus 로고    scopus 로고
    • A novel mutation (M310L) in the thyroid hormone receptor β causing resistance to thyroid hormone in a brazilian kindred and a neonate
    • Furlanetto TW, Kopp P, Peccin S, Gu WX, Jameson JL. A novel mutation (M310L) in the thyroid hormone receptor β causing resistance to thyroid hormone in a brazilian kindred and a neonate. Mol Genet Metab 2000; 71: 520-6.
    • (2000) Mol. Genet. Metab. , vol.71 , pp. 520-526
    • Furlanetto, T.W.1    Kopp, P.2    Peccin, S.3    Gu, W.X.4    Jameson, J.L.5
  • 103
    • 0035176574 scopus 로고    scopus 로고
    • Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant
    • Phillips SA, Rotman-Pikielny P, Lazar J, et al. Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant. J Clin Endocrinol Metab 2001; 86: 5142-7.
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 5142-5147
    • Phillips, S.A.1    Rotman-Pikielny, P.2    Lazar, J.3
  • 104
    • 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 CM, Feijoo MC, Targovnik HM, Funes A. 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. Rev Argent Endocrinol Metab 2003; 40: 13-22.
    • (2003) Rev. Argent. Endocrinol. Metab. , vol.40 , pp. 13-22
    • Rivolta, C.M.1    Feijoo, M.C.2    Targovnik, H.M.3    Funes, A.4
  • 105
    • 16344364830 scopus 로고    scopus 로고
    • 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
    • Rivolta CM, Herzovich V, Esperante SA, Lazzati JM, Iorcansky S, Targovnik H M. 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. Rev Argent Endocrinol Metab 2003; 40: 165-71.
    • (2003) Rev. Argent. Endocrinol. Metab. , vol.40 , pp. 165-171
    • Rivolta, C.M.1    Herzovich, V.2    Esperante, S.A.3    Lazzati, J.M.4    Iorcansky, S.5    Targovnik, H.M.6
  • 106
    • 16344385296 scopus 로고    scopus 로고
    • A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone
    • Rivolta CM, Mallea Gil MS, Ballarino C, et al. A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone. Mol Diagn 2004; 8: 163-9.
    • (2004) Mol. Diagn. , vol.8 , pp. 163-169
    • Rivolta, C.M.1    Mallea Gil, M.S.2    Ballarino, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.