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Volumn 81, Issue 6, 1996, Pages 2076-2079

Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene

Author keywords

[No Author keywords available]

Indexed keywords

THYROID PEROXIDASE;

EID: 0030013089     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.6.2076     Document Type: Article
Times cited : (51)

References (25)
  • 1
    • 8044228776 scopus 로고
    • Defect of the iodinating system in congenital goitrous cretinism: Report of a case with biochemical studies
    • Haddad HM, Sidbury JB. 1959 Defect of the iodinating system in congenital goitrous cretinism: report of a case with biochemical studies. J Clin Endocrinol Metab. 19:1446-1457.
    • (1959) J Clin Endocrinol Metab. , vol.19 , pp. 1446-1457
    • Haddad, H.M.1    Sidbury, J.B.2
  • 2
    • 0015583207 scopus 로고
    • Peroxidase defect in congenital goiter with complete organification block
    • Niepomniczcze H, Castells S, de Groot LJ, et al. 1973 Peroxidase defect in congenital goiter with complete organification block. J Clin Endocrinol Metab. 36:347-357.
    • (1973) J Clin Endocrinol Metab. , vol.36 , pp. 347-357
    • Niepomniczcze, H.1    Castells, S.2    De Groot, L.J.3
  • 3
    • 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. 1994 A 20 basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism. J Clin Endocrinol Metab. 79:248-252.
    • (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
  • 4
    • 2042500693 scopus 로고
    • Human thyroid peroxidase; complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs
    • Kimura S, Kotani T, McBride OW, et al. 1987 Human thyroid peroxidase; complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs. Proc Natl Acad Sci USA. 84:5555-5559.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 5555-5559
    • Kimura, S.1    Kotani, T.2    McBride, O.W.3
  • 5
    • 0023748410 scopus 로고
    • Regional localization of the gene for thyroid peroxidase to human chromosome 2pter → p12
    • De Vijlder JJM, Dinsart C, Libert F, et al. 1988 Regional localization of the gene for thyroid peroxidase to human chromosome 2pter → p12. Cytogenet Cell Genet. 47:170-172.
    • (1988) Cytogenet Cell Genet. , vol.47 , pp. 170-172
    • De Vijlder, J.J.M.1    Dinsart, C.2    Libert, F.3
  • 6
    • 0009569621 scopus 로고
    • Extensions of the genetic linkage map on chromosome 2 based on non-CEPH families
    • Proc of the 11th Int Workshop on Human Gene Mapping.
    • Pakstis AJ, Castiglione CM, Hoth C, Kidd KK. 1991 Extensions of the genetic linkage map on chromosome 2 based on non-CEPH families. Proc of the 11th Int Workshop on Human Gene Mapping. Cytogenet Cell Genet. 58:1871.
    • (1991) Cytogenet Cell Genet , vol.58 , pp. 1871
    • Pakstis, A.J.1    Castiglione, C.M.2    Hoth, C.3    Kidd, K.K.4
  • 7
    • 0027410365 scopus 로고
    • Regional sublocalization of the human peroxidase gene (TPO) by tritium and fluorescence in situ hybridization to chromosome 2p25→p24
    • Barnett PS, Jones TA, McGregor AM, Banga JP, Sheer D. 1993 Regional sublocalization of the human peroxidase gene (TPO) by tritium and fluorescence in situ hybridization to chromosome 2p25→p24. Cytogenet Cell Genet. 62:188-189.
    • (1993) Cytogenet Cell Genet. , vol.62 , pp. 188-189
    • Barnett, P.S.1    Jones, T.A.2    McGregor, A.M.3    Banga, J.P.4    Sheer, D.5
  • 8
    • 0009633604 scopus 로고
    • Thyroid peroxidase (TPO) cDNA detects a VNTR polymorphism and reveals that the TPO gene is ≤140 kb
    • Paris
    • Bikker H, Dinsart C, de Vijlder JJM. 1989 Thyroid peroxidase (TPO) cDNA detects a VNTR polymorphism and reveals that the TPO gene is ≤140 kb. Ann Endocrinol (Paris). 50:115.
    • (1989) Ann Endocrinol , vol.50 , pp. 115
    • Bikker, H.1    Dinsart, C.2    De Vijlder, J.J.M.3
  • 9
    • 0024375696 scopus 로고
    • Structure of the human thyroid peroxidase gene: Comparison and relationship to the human myeloperoxidase gene
    • Kimura S, Hong YS, Kotani T, Othaki S, Kikkawa F. 1989 Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloperoxidase gene. Biochemistry. 28:4481-4489.
    • (1989) Biochemistry , vol.28 , pp. 4481-4489
    • Kimura, S.1    Hong, Y.S.2    Kotani, T.3    Othaki, S.4    Kikkawa, F.5
  • 10
    • 0002937184 scopus 로고
    • Hormone synthesis: Thyroid iodine metabolism
    • Ingbar S, Braverman L, eds. Philadelphia: Lippincott
    • Taurog A. 1986 Hormone synthesis: thyroid iodine metabolism. In: Ingbar S, Braverman L, eds. Werner's the thyroid. Philadelphia: Lippincott; 53-97.
    • (1986) Werner's the Thyroid , pp. 53-97
    • Taurog, A.1
  • 11
    • 0023661371 scopus 로고
    • Thyroperoxidase, an autoantigen with a mosaic structure made of nuclear and mitochondrial gene modules
    • Libert F, Ruel J, Ludgate M, et al. 1987 Thyroperoxidase, an autoantigen with a mosaic structure made of nuclear and mitochondrial gene modules. EMBO J. 6:4193-4196.
    • (1987) EMBO J. , vol.6 , pp. 4193-4196
    • Libert, F.1    Ruel, J.2    Ludgate, M.3
  • 12
    • 0023576002 scopus 로고
    • Isolation of a complementary DNA clone for thyroid microsomal antigen. Homology with the gene for thyroid peroxidase
    • Seto P, Hirayu H, Magnusson RP, Gestautas J, Portmann L, DeGroot LJ, Rapoport B. 1987 Isolation of a complementary DNA clone for thyroid microsomal antigen. Homology with the gene for thyroid peroxidase. J Clin Invest. 80:1205-1208.
    • (1987) J Clin Invest. , vol.80 , pp. 1205-1208
    • Seto, P.1    Hirayu, H.2    Magnusson, R.P.3    Gestautas, J.4    Portmann, L.5    DeGroot, L.J.6    Rapoport, B.7
  • 13
    • 0025893682 scopus 로고
    • Demonstration of the existence of the alternatively spliced form of thyroid peroxidase in normal thyroid
    • Elisei R, Vassart G, Ludgate M. 1991 Demonstration of the existence of the alternatively spliced form of thyroid peroxidase in normal thyroid. J Clin Endocrinol Metab. 72:700-702.
    • (1991) J Clin Endocrinol Metab. , vol.72 , pp. 700-702
    • Elisei, R.1    Vassart, G.2    Ludgate, M.3
  • 14
    • 0026474438 scopus 로고
    • Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter
    • Abramowicz MJ, Tarkovnik HM, Varela V, et al. 1992 Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J Clin Invest. 90:1200-1204.
    • (1992) J Clin Invest. , vol.90 , pp. 1200-1204
    • Abramowicz, M.J.1    Tarkovnik, H.M.2    Varela, V.3
  • 15
    • 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. 1995 Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturating gradient gel electrophoresis. Hum Mutat. 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
  • 17
    • 0021748259 scopus 로고
    • Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. a linkage study suggesting autosomal dominance of a defective thyroglobulin allele
    • Baas F, Bikker H, van Ommen GJB, de Vijlder JJM. 1984 Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet. 76:301-305.
    • (1984) Hum Genet. , vol.76 , pp. 301-305
    • Baas, F.1    Bikker, H.2    Van Ommen, G.J.B.3    De Vijlder, J.J.M.4
  • 18
    • 0024553064 scopus 로고
    • RFLPs detected at 2 pter-p12 with a thyroid peroxidase cDNA probe, TPO3 (McKusick no. 27450)
    • Massaro G, Libert F, Vassart G, Dinsart Ch. 1989 RFLPs detected at 2 pter-p12 with a thyroid peroxidase cDNA probe, TPO3 (McKusick no. 27450). Nucleic Acids Res. 17:2155.
    • (1989) Nucleic Acids Res. , vol.17 , pp. 2155
    • Massaro, G.1    Libert, F.2    Vassart, G.3    Dinsart, Ch.4
  • 19
    • 0026531186 scopus 로고
    • Structure and characterization of a 50 bp repeat in intron 10 of the human thyroid peroxidase gene
    • Bikker H, Baas F, de Vijlder JJM. 1992 Structure and characterization of a 50 bp repeat in intron 10 of the human thyroid peroxidase gene. Mol Cell Endocrinol. 83:21-28.
    • (1992) Mol Cell Endocrinol. , vol.83 , pp. 21-28
    • Bikker, H.1    Baas, F.2    De Vijlder, J.J.M.3
  • 21
    • 0023664918 scopus 로고
    • Complete nucleotide sequence of the human thyroperoxidase-microsomal antigen cDNA
    • Libert F, Ruel J, Ludgate M, et al. 1987 Complete nucleotide sequence of the human thyroperoxidase-microsomal antigen cDNA. Nucleic Acids Res. 15: 6735.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 6735
    • Libert, F.1    Ruel, J.2    Ludgate, M.3
  • 22
    • 85016769543 scopus 로고
    • Mutation detection by PCR, GC-clamps and denaturing gradient gel electrophoresis
    • Erlich HA, ed. New York: Stockton
    • Myers RM. 1989 Mutation detection by PCR, GC-clamps and denaturing gradient gel electrophoresis. In: Erlich HA, ed. PCR technology. New York: Stockton; 71-88.
    • (1989) PCR Technology , pp. 71-88
    • Myers, R.M.1
  • 23
    • 0023476285 scopus 로고
    • Detection and localization of single base changes by denaturing gradient gel electrophoresis
    • Wu R, ed. San Diego: Academic Press
    • Myers RM, Maniatis T, Lerman LS. 1987 Detection and localization of single base changes by denaturing gradient gel electrophoresis. In: Wu R, ed. Methods in enzymology. San Diego: Academic Press; vol 155:501-517.
    • (1987) Methods in Enzymology , vol.155 , pp. 501-517
    • Myers, R.M.1    Maniatis, T.2    Lerman, L.S.3
  • 24
    • 0025761368 scopus 로고
    • Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency
    • Mangklabruks A, Correa Billerbeck A-E, Wajchenberg B, et al. 1991 Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency. J Clin Endocrinol Metab. 72:471-476.
    • (1991) J Clin Endocrinol Metab. , vol.72 , pp. 471-476
    • Mangklabruks, A.1    Correa Billerbeck, A.-E.2    Wajchenberg, B.3
  • 25
    • 0022628480 scopus 로고
    • Activation of the human β-interferon gene requires an interferon-inducible factor
    • Enoch T, Zinn K, Maniatis T. 1986 Activation of the human β-interferon gene requires an interferon-inducible factor. Mol Cell Biol. 6:801-810.
    • (1986) Mol Cell Biol. , vol.6 , pp. 801-810
    • Enoch, T.1    Zinn, K.2    Maniatis, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.