메뉴 건너뛰기




Volumn 81, Issue 3, 2014, Pages 452-457

Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIGEN; DUOX2 PROTEIN, HUMAN; IODIDE PEROXIDASE; IRON BINDING PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; THYROGLOBULIN; TPO PROTEIN, HUMAN;

EID: 84905081888     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12469     Document Type: Article
Times cited : (39)

References (22)
  • 1
    • 5444271023 scopus 로고    scopus 로고
    • Thyroid development and its disorders: Genetics and molecular mechanisms
    • De Felice, M., &, Di, L.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, L.R.2
  • 2
    • 70349680738 scopus 로고    scopus 로고
    • A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH)
    • Corbetta, C., Weber, G., Cortinovis, F., et al,. (2009) A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clinical Endocrinology (Oxford), 71, 739-745.
    • (2009) Clinical Endocrinology (Oxford) , vol.71 , pp. 739-745
    • Corbetta, C.1    Weber, G.2    Cortinovis, F.3
  • 3
    • 77952876312 scopus 로고    scopus 로고
    • Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
    • Targovnik, H.M., Esperante, S.A., &, Rivolta, C.M., (2010) Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations. Molecular and Cellular Endocrinology, 322, 44-55.
    • (2010) Molecular and Cellular Endocrinology , vol.322 , pp. 44-55
    • Targovnik, H.M.1    Esperante, S.A.2    Rivolta, C.M.3
  • 4
    • 77952876664 scopus 로고    scopus 로고
    • Genetics and phenomics of hypothyroidism and goiter due to TPO mutations
    • Ris-Stalpers, C., &, Bikker, H., (2010) Genetics and phenomics of hypothyroidism and goiter due to TPO mutations. Molecular and Cellular Endocrinology, 322, 38-43.
    • (2010) Molecular and Cellular Endocrinology , vol.322 , pp. 38-43
    • Ris-Stalpers, C.1    Bikker, H.2
  • 5
    • 0037063119 scopus 로고    scopus 로고
    • Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism
    • Moreno, J.C., Bikker, H., Kempers, M.J., et al,. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. The New England Journal of Medicine, 347, 95-102.
    • (2002) The New England Journal of Medicine , vol.347 , pp. 95-102
    • Moreno, J.C.1    Bikker, H.2    Kempers, M.J.3
  • 6
    • 0026334976 scopus 로고
    • A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
    • Ieiri, T., Cochaux, P., Targovnik, H.M., et al,. (1991) A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. The Journal of Clinical Investigation, 88, 1901-1905.
    • (1991) The Journal of Clinical Investigation , vol.88 , pp. 1901-1905
    • Ieiri, T.1    Cochaux, P.2    Targovnik, H.M.3
  • 7
    • 39049092782 scopus 로고    scopus 로고
    • Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism
    • Zamproni, I., Grasberger, H., Cortinovis, F., et al,. (2008) Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. Journal of Clinical Endocrinology and Metabolism, 93, 605-610.
    • (2008) Journal of Clinical Endocrinology and Metabolism , vol.93 , pp. 605-610
    • Zamproni, I.1    Grasberger, H.2    Cortinovis, F.3
  • 8
    • 16944366606 scopus 로고    scopus 로고
    • Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
    • Everett, L.A., Glaser, B., Beck, J.C., et al,. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genetics, 17, 411-422.
    • (1997) Nature Genetics , vol.17 , pp. 411-422
    • Everett, L.A.1    Glaser, B.2    Beck, J.C.3
  • 9
    • 0031156646 scopus 로고    scopus 로고
    • Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
    • Fujiwara, H., Tatsumi, K., Miki, K., et al,. (1997) Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. Nature Genetics, 16, 124-125.
    • (1997) Nature Genetics , vol.16 , pp. 124-125
    • Fujiwara, H.1    Tatsumi, K.2    Miki, K.3
  • 10
  • 11
    • 79951670714 scopus 로고    scopus 로고
    • Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism
    • Chiesa, A., Rivolta, C.M., Targovnik, H.M., et al,. (2010) Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism. Endocrine, 38, 377-385.
    • (2010) Endocrine , vol.38 , pp. 377-385
    • Chiesa, A.1    Rivolta, C.M.2    Targovnik, H.M.3
  • 12
    • 30544439048 scopus 로고    scopus 로고
    • Structural and functional aspects of thyroid peroxidase
    • Ruf, J., &, Carayon, P., (2006) Structural and functional aspects of thyroid peroxidase. Archives of Biochemistry and Biophysics, 445, 269-277.
    • (2006) Archives of Biochemistry and Biophysics , vol.445 , pp. 269-277
    • Ruf, J.1    Carayon, P.2
  • 13
    • 0033601327 scopus 로고    scopus 로고
    • Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cdnas
    • Dupuy, C., Ohayon, R., Valent, A., et al,. (1999) Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cdnas. Journal of Biological Chemistry, 274, 37265-37269.
    • (1999) Journal of Biological Chemistry , vol.274 , pp. 37265-37269
    • Dupuy, C.1    Ohayon, R.2    Valent, A.3
  • 14
    • 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, M.C., et al,. (2000) Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. Journal of Biological Chemistry, 275, 23227-23233.
    • (2000) Journal of Biological Chemistry , vol.275 , pp. 23227-23233
    • De Deken, X.1    Wang, D.2    Many, M.C.3
  • 15
    • 33747686032 scopus 로고    scopus 로고
    • Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan
    • Hishinuma, A., Fukata, S., Nishiyama, S., et al,. (2006) Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. Journal of Clinical Endocrinology and Metabolism, 91, 3100-3104.
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , pp. 3100-3104
    • Hishinuma, A.1    Fukata, S.2    Nishiyama, S.3
  • 16
    • 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
  • 17
    • 77952849775 scopus 로고    scopus 로고
    • Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism
    • Grasberger, H., (2010) Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism. Molecular and Cellular Endocrinology, 322, 99-106.
    • (2010) Molecular and Cellular Endocrinology , vol.322 , pp. 99-106
    • Grasberger, H.1
  • 18
    • 33745060185 scopus 로고    scopus 로고
    • Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings
    • Vigone, M.C., Fugazzola, L., Zamproni, I., et al,. (2005) Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. Human Mutation, 26, 395.
    • (2005) Human Mutation , vol.26 , pp. 395
    • Vigone, M.C.1    Fugazzola, L.2    Zamproni, I.3
  • 19
    • 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., et al,. (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
  • 20
    • 35148836318 scopus 로고    scopus 로고
    • New phenotypes in thyroid dyshormonogenesis: Hypothyroidism due to DUOX2 mutations
    • Moreno, J.C., &, Visser, T.J., (2007) New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations. Endocrine Development, 10, 99-117.
    • (2007) Endocrine Development , vol.10 , pp. 99-117
    • Moreno, J.C.1    Visser, T.J.2
  • 21
    • 57349176149 scopus 로고    scopus 로고
    • Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program
    • Maruo, Y., Takahashi, H., Soeda, I., et al,. (2008) Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. Journal of Clinical Endocrinology and Metabolism, 93, 4261-4267.
    • (2008) Journal of Clinical Endocrinology and Metabolism , vol.93 , pp. 4261-4267
    • Maruo, Y.1    Takahashi, H.2    Soeda, I.3
  • 22
    • 80655134848 scopus 로고    scopus 로고
    • Molecular basis of thyroid dyshormonogenesis: Genetic screening in population-based Japanese patients
    • Narumi, S., Muroya, K., Asakura, Y., et al,. (2011) Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. Journal of Clinical Endocrinology and Metabolism, 96, E1838-E1842.
    • (2011) Journal of Clinical Endocrinology and Metabolism , vol.96
    • Narumi, S.1    Muroya, K.2    Asakura, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.