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Volumn 83, Issue 5, 1998, Pages 1771-1775

Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: Are athyreosis and ectopic thyroid distinct entities?

Author keywords

[No Author keywords available]

Indexed keywords

LEVOTHYROXINE; THYROGLOBULIN; THYROTROPIN RECEPTOR;

EID: 0031755047     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.5.1771     Document Type: Article
Times cited : (141)

References (30)
  • 2
    • 0030060625 scopus 로고    scopus 로고
    • Outcome of severe congenital hypothyroidism: Closing the developmental gap with early high dose levothyroxine treatment
    • Dubuis JM, Glorieux J, Richer F, Deal CL, Dussault JH, Van Vliet G. 1996 Outcome of severe congenital hypothyroidism: closing the developmental gap with early high dose levothyroxine treatment. J Clin Endocrinol Metab. 81:222-227.
    • (1996) J Clin Endocrinol Metab. , vol.81 , pp. 222-227
    • Dubuis, J.M.1    Glorieux, J.2    Richer, F.3    Deal, C.L.4    Dussault, J.H.5    Van Vliet, G.6
  • 3
    • 0028888593 scopus 로고
    • Brief report: Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
    • Sunthornthepvarakul T, Gottschalk M, Hayashi Y, Refetoff S. 1995 Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 332:155-60.
    • (1995) N Engl J Med. , vol.332 , pp. 155-160
    • Sunthornthepvarakul, T.1    Gottschalk, M.2    Hayashi, Y.3    Refetoff, S.4
  • 4
    • 10544240361 scopus 로고    scopus 로고
    • Four families with loss-of-function mutations of the thyrotropin receptor
    • De Roux N, Misrahi R, Brauner R, et al. 1996 Four families with loss-of-function mutations of the thyrotropin receptor. J Clin Endocrinol Metab. 81:4229-4235.
    • (1996) J Clin Endocrinol Metab. , vol.81 , pp. 4229-4235
    • De Roux, N.1    Misrahi, R.2    Brauner, R.3
  • 5
    • 0030983833 scopus 로고    scopus 로고
    • Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
    • Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A. 1997 Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab. 82:3471-3480.
    • (1997) J Clin Endocrinol Metab. , vol.82 , pp. 3471-3480
    • Biebermann, H.1    Schöneberg, T.2    Krude, H.3    Schultz, G.4    Gudermann, T.5    Grüters, A.6
  • 6
    • 0030989828 scopus 로고    scopus 로고
    • Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH
    • Clifton-Bligh RJ, Gregory JW, Ludgate M, et al. 1997 Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. J Clin Endocrinol Metab. 82:1094-1100.
    • (1997) J Clin Endocrinol Metab. , vol.82 , pp. 1094-1100
    • Clifton-Bligh, R.J.1    Gregory, J.W.2    Ludgate, M.3
  • 7
    • 0030994365 scopus 로고    scopus 로고
    • Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
    • Abramovicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C. 1997 Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest. 99:3018-3024.
    • (1997) J Clin Invest. , vol.99 , pp. 3018-3024
    • Abramovicz, M.J.1    Duprez, L.2    Parma, J.3    Vassart, G.4    Heinrichs, C.5
  • 8
    • 0025048165 scopus 로고
    • The value of neonatal serum thyroglobulin determinations in the follow-up of patients with congenital hypothyroidism
    • Ilicki A, Ericsson U-B, Larsson A, Mortensson W, Thorell J. 1990 The value of neonatal serum thyroglobulin determinations in the follow-up of patients with congenital hypothyroidism. Acta Pediatr Scand. 79:769-775.
    • (1990) Acta Pediatr Scand. , vol.79 , pp. 769-775
    • Ilicki, A.1    Ericsson, U.-B.2    Larsson, A.3    Mortensson, W.4    Thorell, J.5
  • 9
    • 0014425946 scopus 로고
    • Congenital hypothyroidism with impaired thyroid response to thyrotropin
    • Stanbury JB, Rocmans P, Buhler UK, and Ochi Y. 1968 Congenital hypothyroidism with impaired thyroid response to thyrotropin. N Engl J Med. 279:1132-1136.
    • (1968) N Engl J Med. , vol.279 , pp. 1132-1136
    • Stanbury, J.B.1    Rocmans, P.2    Buhler, U.K.3    Ochi, Y.4
  • 10
    • 0024806929 scopus 로고
    • Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: Evidence for binding of autoantibodies
    • Libert F, Lefort A, Gerard C, et al. 1989 Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies. Biochem Biophys Res Commun. 165:1250-1255.
    • (1989) Biochem Biophys Res Commun. , vol.165 , pp. 1250-1255
    • Libert, F.1    Lefort, A.2    Gerard, C.3
  • 11
    • 0024852495 scopus 로고
    • Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor
    • Nagayama Y, Kaufman KD, Seto P, Rapoport B. 1989 Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor. Biochem Biophys Res Commun. 165:1184-1190.
    • (1989) Biochem Biophys Res Commun. , vol.165 , pp. 1184-1190
    • Nagayama, Y.1    Kaufman, K.D.2    Seto, P.3    Rapoport, B.4
  • 13
    • 0025321246 scopus 로고
    • Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to the genome project
    • Senapathy S, Shapiro MB, Harris NL. 1990 Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to the genome project. Methods Enzymol. 183:252-283.
    • (1990) Methods Enzymol. , vol.183 , pp. 252-283
    • Senapathy, S.1    Shapiro, M.B.2    Harris, N.L.3
  • 14
    • 0030909661 scopus 로고    scopus 로고
    • Altered mRNA expression due to insertion or substitution of thymine at position +3 of two splice donor-sites in the androgen receptor gene
    • Trifiro MA, Lumbroso R, Beitel LK, et al. 1997 Altered mRNA expression due to insertion or substitution of thymine at position +3 of two splice donor-sites in the androgen receptor gene. Eur J Hum Genet. 5:50-58.
    • (1997) Eur J Hum Genet. , vol.5 , pp. 50-58
    • Trifiro, M.A.1    Lumbroso, R.2    Beitel, L.K.3
  • 15
    • 0029645408 scopus 로고
    • Modeling of the three-dimensional structure of proteins with the typical leucine-rich repeats
    • Kajava AV, Vassart G, and Wodak SJ. 1995 Modeling of the three-dimensional structure of proteins with the typical leucine-rich repeats. Structure. 3:867-877.
    • (1995) Structure , vol.3 , pp. 867-877
    • Kajava, A.V.1    Vassart, G.2    Wodak, S.J.3
  • 16
    • 0026568620 scopus 로고
    • The thyrotropin receptor 25 years after its discovery: New insight after its molecular cloning
    • Nagayama Y, Rapoport B. 1992 The thyrotropin receptor 25 years after its discovery: new insight after its molecular cloning. Mol Endocrinol. 6:145-156.
    • (1992) Mol Endocrinol. , vol.6 , pp. 145-156
    • Nagayama, Y.1    Rapoport, B.2
  • 18
    • 0020647088 scopus 로고
    • Plasma thyroglobulin measurements help determine the type of thyroid defect in congenital hypothyroidism
    • Czernichow P, Schlumberger M, Pomarede R, Fragu P. 1983 Plasma thyroglobulin measurements help determine the type of thyroid defect in congenital hypothyroidism. J Clin Endocrinol Metab. 56:242-245.
    • (1983) J Clin Endocrinol Metab. , vol.56 , pp. 242-245
    • Czernichow, P.1    Schlumberger, M.2    Pomarede, R.3    Fragu, P.4
  • 19
    • 0028939561 scopus 로고
    • Measurement of thyroglobulin in newborn screening specimens from normal and hypothyroid infants
    • Oxf
    • Mitchell ML, Hermos RJ. 1995 Measurement of thyroglobulin in newborn screening specimens from normal and hypothyroid infants. Clin Endocrinol (Oxf). 42:523-527.
    • (1995) Clin Endocrinol , vol.42 , pp. 523-527
    • Mitchell, M.L.1    Hermos, R.J.2
  • 21
    • 0028040502 scopus 로고
    • Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness
    • Takeshita A, Nagayama Y, Yamashita S, et al. 1994 Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness. Thyroid. 4:255-259.
    • (1994) Thyroid , vol.4 , pp. 255-259
    • Takeshita, A.1    Nagayama, Y.2    Yamashita, S.3
  • 22
    • 9844223914 scopus 로고    scopus 로고
    • Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH
    • Xie J, Pannain S, Pohlenz J, et al. 1997 Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. J Clin Endocrinol Metab. 82:3933-3940.
    • (1997) J Clin Endocrinol Metab. , vol.82 , pp. 3933-3940
    • Xie, J.1    Pannain, S.2    Pohlenz, J.3
  • 23
    • 0022469774 scopus 로고
    • Transient neonatal "athyreosis" resulting from thyrotropin-binding inhibitory immunoglobulins
    • Connors MH, Styne DM. 1986 Transient neonatal "athyreosis" resulting from thyrotropin-binding inhibitory immunoglobulins. Pediatrics. 78:287-290.
    • (1986) Pediatrics , vol.78 , pp. 287-290
    • Connors, M.H.1    Styne, D.M.2
  • 24
    • 0030735539 scopus 로고    scopus 로고
    • A homozygous missense mutation of the sodium/ iodide symporter gene causing iodide transport defect
    • Matsuda A, Kosugi S. 1997 A homozygous missense mutation of the sodium/ iodide symporter gene causing iodide transport defect. J Clin Endocrinol Metab. 82:3966-3971.
    • (1997) J Clin Endocrinol Metab. , vol.82 , pp. 3966-3971
    • Matsuda, A.1    Kosugi, S.2
  • 25
    • 0028266582 scopus 로고
    • Etiological grouping of permanent congenital hypothyroidism with a thyroid gland in situ
    • Grüters A, Finke R, Krude H, Meinhold H. 1994 Etiological grouping of permanent congenital hypothyroidism with a thyroid gland in situ. Horm Res. 41:3-9.
    • (1994) Horm Res. , vol.41 , pp. 3-9
    • Grüters, A.1    Finke, R.2    Krude, H.3    Meinhold, H.4
  • 26
    • 0031037078 scopus 로고    scopus 로고
    • Genetic and linkage analysis of familial congenital hypothyroidism: Exclusion of linkage to the TSH receptor gene
    • Ahlbom BD, Yaqoob M, Larsson A, Ilicki A, Anneren G, Wadelius C. 1997 Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. Hum Genet. 99:186-190.
    • (1997) Hum Genet. , vol.99 , pp. 186-190
    • Ahlbom, B.D.1    Yaqoob, M.2    Larsson, A.3    Ilicki, A.4    Anneren, G.5    Wadelius, C.6
  • 27
    • 0030839127 scopus 로고    scopus 로고
    • Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis
    • Pema MG, Civitareale D, De Filippis, Sacco M, Cisternino C, Tassi V. 1997 Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis. Thyroid. 7:377-382.
    • (1997) Thyroid , vol.7 , pp. 377-382
    • Pema, M.G.1    Civitareale, D.2    De Filippis3    Sacco, M.4    Cisternino, C.5    Tassi, V.6
  • 28
    • 12644283550 scopus 로고    scopus 로고
    • Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis
    • Lapi P, Macchia PE, Chiovato L, et al. 1997 Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. Thyroid. 7:383-387.
    • (1997) Thyroid , vol.7 , pp. 383-387
    • Lapi, P.1    Macchia, P.E.2    Chiovato, L.3
  • 30
    • 0031154933 scopus 로고    scopus 로고
    • Probing the cause of thyroid dysgenesis
    • Abramowicz M, Vassart G, Refetoff S. 1997 Probing the cause of thyroid dysgenesis (editorial). Thyroid. 7:325-326.
    • (1997) Thyroid , vol.7 , pp. 325-326
    • Abramowicz, M.1    Vassart, G.2    Refetoff, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.