메뉴 건너뛰기




Volumn 9, Issue 6, 1999, Pages 523-529

Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia

Author keywords

[No Author keywords available]

Indexed keywords

THYROGLOBULIN; THYROTROPIN; THYROTROPIN RECEPTOR;

EID: 0033025832     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.1999.9.523     Document Type: Article
Times cited : (20)

References (37)
  • 1
    • 0026968920 scopus 로고
    • Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world
    • Toublanc JE 1992 Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world. Horm Res 138:230-235.
    • (1992) Horm Res , vol.138 , pp. 230-235
    • Toublanc, J.E.1
  • 2
    • 0005677317 scopus 로고
    • Thyroid hormones, biochemistry and physiology
    • Bertrand J, Rappaport R, Sizonenko P (eds) Williams and Wilkins, Baltimore
    • Delane F, Czernichow P 1993 Thyroid hormones, biochemistry and physiology. In: Bertrand J, Rappaport R, Sizonenko P (eds) Pediatric Endocrinology. Williams and Wilkins, Baltimore, pp 242-251.
    • (1993) Pediatric Endocrinology , pp. 242-251
    • Delane, F.1    Czernichow, P.2
  • 4
    • 0002308580 scopus 로고
    • Developmental abnormalities of the thyroid
    • De Groot LJ (ed) W.B. Saunders, Philadelphia
    • Kaplan EL, Shukla M, Hara H, Ito K 1994 Developmental abnormalities of the thyroid: In: De Groot LJ (ed) Endocrinology. W.B. Saunders, Philadelphia, pp 893-899.
    • (1994) Endocrinology , pp. 893-899
    • Kaplan, E.L.1    Shukla, M.2    Hara, H.3    Ito, K.4
  • 5
    • 0029941917 scopus 로고    scopus 로고
    • Mutations in G proteins and G protein-coupled receptors in endocrine disease
    • Spiegel AM 1996 Mutations in G proteins and G protein-coupled receptors in endocrine disease. J Clin Endocrinol Metab 81:2434-2442.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 2434-2442
    • Spiegel, A.M.1
  • 6
    • 0026661582 scopus 로고
    • Physiological and pathological regulation of thyroid cell proliferation and differentiation by thyrotropin and other factors
    • Dumont JE, Lamy F, Roger P, Maehaut C 1992 Physiological and pathological regulation of thyroid cell proliferation and differentiation by thyrotropin and other factors. Physiol Rev 72:667-697.
    • (1992) Physiol Rev , vol.72 , pp. 667-697
    • Dumont, J.E.1    Lamy, F.2    Roger, P.3    Maehaut, C.4
  • 8
    • 0029054873 scopus 로고
    • The thyrotropin (TSH) receptor transmembrane domain mutation (Pro556-Leu) in the hypothyroid hyt/hyt mouse results in plasma membrane targeting but defective TSH binding
    • Gu WX, Du GG Kopp P, Rentoumis A, Albanese C, Kohn LD, Madison LD, Jameson JL 1995 The thyrotropin (TSH) receptor transmembrane domain mutation (Pro556-Leu) in the hypothyroid hyt/hyt mouse results in plasma membrane targeting but defective TSH binding. Endocrinology 136: 3146-3153.
    • (1995) Endocrinology , vol.136 , pp. 3146-3153
    • Gu, W.X.1    Du, G.G.2    Kopp, P.3    Rentoumis, A.4    Albanese, C.5    Kohn, L.D.6    Madison, L.D.7    Jameson, J.L.8
  • 9
    • 0020058255 scopus 로고
    • Defective thyroid ontogenesis in fetal hypothyroid (hyt/hyt) mice
    • Beamer WD, Creswell LA 1982 Defective thyroid ontogenesis in fetal hypothyroid (hyt/hyt) mice. Anat Rec 202: 387-393.
    • (1982) Anat Rec , vol.202 , pp. 387-393
    • Beamer, W.D.1    Creswell, L.A.2
  • 10
    • 0014425946 scopus 로고
    • Congenital hypothyroidism with impaired thyroid response to thyrotropin
    • Stanbury JB, Rocmans P, Buhler UK, 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
  • 11
    • 17044460893 scopus 로고
    • L'hypothyroidie infantile à début précoce avec glande en place, fixation faible de radioiode et défaut de réponse à la thyréostimuline
    • Paris
    • Job JC, Canlorbe P, Thomassin N, Vassal J 1969 L'hypothyroidie infantile à début précoce avec glande en place, fixation faible de radioiode et défaut de réponse à la thyréostimuline. Ann Endocrinol (Paris) 30:696-701.
    • (1969) Ann Endocrinol , vol.30 , pp. 696-701
    • Job, J.C.1    Canlorbe, P.2    Thomassin, N.3    Vassal, J.4
  • 12
  • 16
    • 0027144992 scopus 로고
    • Familial unresponsiveness to thyrotropin by autosomal recessive inheritance
    • Takamatsu J, Nishikawa M, Horimoto M, Ohsawa N 1993 Familial unresponsiveness to thyrotropin by autosomal recessive inheritance. J Clin Endocrinol Metab 77:1569-1573.
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 1569-1573
    • Takamatsu, J.1    Nishikawa, M.2    Horimoto, M.3    Ohsawa, N.4
  • 20
    • 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
  • 21
    • 0030994365 scopus 로고    scopus 로고
    • Familial congenital hypotyroidism 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 1997 Familial congenital hypotyroidism 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
    • Abramowicz, M.J.1    Duprez, L.2    Parma, J.3    Vassart, G.4    Heinrichs, C.5
  • 22
    • 0031755047 scopus 로고    scopus 로고
    • 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
    • Gagné N, Parma J, Deal C, Vassart G, Van Vliet G 1998 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. J Clin Endocrinol Metab 83: 1771-1775.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 1771-1775
    • Gagné, N.1    Parma, J.2    Deal, C.3    Vassart, G.4    Van Vliet, G.5
  • 24
    • 0029874025 scopus 로고    scopus 로고
    • Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene
    • De Roux N, Misrahi M, Chatelain N, Gross B, Milgrom E 1996 Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene. Mol Cel Endocrinol 117:253-256.
    • (1996) Mol Cel Endocrinol , vol.117 , pp. 253-256
    • De Roux, N.1    Misrahi, M.2    Chatelain, N.3    Gross, B.4    Milgrom, E.5
  • 30
    • 0031980434 scopus 로고    scopus 로고
    • Analysis of the promoter of the thyrotropin receptor gene and the entire genomic sequence of thyroid transcription factor-1 in familial congenital hypothyroidism due to thyrotropin unresponsiveness
    • Hishinuma A, Takamatsu J, Kanno Y, Yoshida S, Ieiri T 1998 Analysis of the promoter of the thyrotropin receptor gene and the entire genomic sequence of thyroid transcription factor-1 in familial congenital hypothyroidism due to thyrotropin unresponsiveness. Thyroid 8:305-309.
    • (1998) Thyroid , vol.8 , pp. 305-309
    • Hishinuma, A.1    Takamatsu, J.2    Kanno, Y.3    Yoshida, S.4    Ieiri, T.5
  • 32
    • 0028275399 scopus 로고
    • Polymorphism of a variant human thyrotropin receptor (hTSHR) gene
    • Sunthornthepvarakul T, Hayashi Y, Refetoff S 1994 Polymorphism of a variant human thyrotropin receptor (hTSHR) gene. Thyroid 4:147-149.
    • (1994) Thyroid , vol.4 , pp. 147-149
    • Sunthornthepvarakul, T.1    Hayashi, Y.2    Refetoff, S.3
  • 33
    • 0000032174 scopus 로고    scopus 로고
    • Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency
    • Spiegel A (ed) Humana Press, Totowa
    • Weinstein L 1998 Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency. In: Spiegel A (ed) G-proteins, Receptors, and Disease. Humana Press, Totowa, pp 23-56.
    • (1998) G-proteins, Receptors, and Disease , pp. 23-56
    • Weinstein, L.1
  • 34
    • 0031037078 scopus 로고    scopus 로고
    • Genetic and linkage analysis of familial congenital hypothyroidism: Exclusion of linkage to the TSH receptor
    • Ahlbom BE, Yaqoob M, Larsson A, Illicki A, Annerén G, Wadelius C 1997 Genetic and linkage analysis of familial congenital hypothyroidism: Exclusion of linkage to the TSH receptor. Hum Genet 99:186-190.
    • (1997) Hum Genet , vol.99 , pp. 186-190
    • Ahlbom, B.E.1    Yaqoob, M.2    Larsson, A.3    Illicki, A.4    Annerén, G.5    Wadelius, C.6
  • 37
    • 0030844232 scopus 로고    scopus 로고
    • Resistance to TSH in patients with normal TSH receptors - Where do we turn when "Sutton's Law" proves false?
    • Levine MA, Ringel MD 1997 Resistance to TSH in patients with normal TSH receptors - Where do we turn when "Sutton's Law" proves false? J Clin Endocrinol Metab 82: 3930-3932.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3930-3932
    • Levine, M.A.1    Ringel, M.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.