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Volumn 65, Issue 6, 2006, Pages 810-815

Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ENZYME; LEVOTHYROXINE; THYROID HORMONE; THYROID OXIDASE 2; UNCLASSIFIED DRUG;

EID: 33751109713     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2006.02672.x     Document Type: Article
Times cited : (51)

References (15)
  • 1
    • 5444271023 scopus 로고    scopus 로고
    • Thyroid development and its disorders: Genetics and molecular mechanisms
    • de Felice, M. & di Lauro, R. (2004) Thyroid development and its disorders: genetics and molecular mechanisms. Endocrine Reviews, 25, 722-746.
    • (2004) Endocrine Reviews , vol.25 , pp. 722-746
    • De Felice, M.1    Di Lauro, R.2
  • 4
    • 0032703197 scopus 로고    scopus 로고
    • Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism
    • Pohlenz, J. & Refetoff, S. (1999) Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism. Biochimie, 81, 469-476.
    • (1999) Biochimie , vol.81 , pp. 469-476
    • Pohlenz, J.1    Refetoff, S.2
  • 5
    • 0033762041 scopus 로고    scopus 로고
    • Pendred's syndrome and genetic defects in thyroid hormone synthesis
    • Kopp, P. (2000) Pendred's syndrome and genetic defects in thyroid hormone synthesis. Reviews in Endocrine and Metabolic Disorders, 1, 109-121.
    • (2000) Reviews in Endocrine and Metabolic Disorders , vol.1 , pp. 109-121
    • Kopp, P.1
  • 9
    • 31844445842 scopus 로고    scopus 로고
    • Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A→C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect
    • Varela, V., Rivolta, C.M., Esperante, S.A., Gruneiro-Papendieck, L., Chiesa, A. & Targovnik, H.M. (2006) Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A→C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. Clinical Chemistry, 52, 182-191.
    • (2006) Clinical Chemistry , vol.52 , pp. 182-191
    • Varela, V.1    Rivolta, C.M.2    Esperante, S.A.3    Gruneiro-Papendieck, L.4    Chiesa, A.5    Targovnik, H.M.6
  • 14
    • 0036056296 scopus 로고    scopus 로고
    • Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system
    • De Deken, X., Wang, D., Dumont, J.E. & Miot, F. (2002) Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system. Experimental Cell Research, 273, 187-196.
    • (2002) Experimental Cell Research , vol.273 , pp. 187-196
    • De Deken, X.1    Wang, D.2    Dumont, J.E.3    Miot, F.4
  • 15
    • 33745821178 scopus 로고    scopus 로고
    • Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent
    • Grasberger, H. & Refetoff, S. (2006) Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. Journal of Biological Chemistry, 281, 18269-18272.
    • (2006) Journal of Biological Chemistry , vol.281 , pp. 18269-18272
    • Grasberger, H.1    Refetoff, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.