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人钠/碘转运体354位点基因突变与先天性甲状腺功能减退症的相关性研究 被引量:1

Relationship between T354P mutation of the human sodium/iodide symporter and congenital hypothyroidism
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出处 《中华儿科杂志》 CAS CSCD 北大核心 2004年第6期456-457,共2页 Chinese Journal of Pediatrics
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参考文献10

  • 1KosugiS,BhayanaS,DeanHJ.Anovelmutationinthesodium/iodidsymportergeneinthelargestfamilywithiodidetransportdefect[].JClinEndocrinolMetab.1999
  • 2Kosugi S,Sato Y,Matsuda A,et al.High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures[].The Journal of Clinical Endocrinology.1998
  • 3Fujiwara H,Tatsumi K,Tanaka S,et al.A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect[].Thyroid.2000
  • 4Pohlenz J,Medeiros-Neto G,Gross J L,et al.Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene[].Biochemical and Biophysical Research Communications.1997
  • 5Kosugi S,Okamoto H,Tamada A,et al.A novel peculiar mutation in the sodium/iodide symporter gene in Spanish siblings with iodide transport defect[].The Journal of Clinical Endocrinology.2002
  • 6Fujiwara H,Tatsumi K,Miki K,et al.Congenital hypothyroidism caused by a mutation in the Na+/I-symporter[].Nature Genetics.1997
  • 7Fujiwara H,Tatsumi K,Miki K,et al.Recurrent T354P mutation of the Na +/I-symporter in patients with iodide-transport defect[].The Journal of Clinical Endocrinology.1998
  • 8Levy O,Ginter C S,De la Vieja A,et al.Identification of a structural requirement for thyroid Na+/I-symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism[].FEBS Letters.1998
  • 9De la Vieja.Several hydroxylcontaining amino acid residues in transmembrane segment are important for sodium/iodide symporter activity[].Endocrine Journal.1997
  • 10Tatsumi K,Miyai K,Amino N.Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene[].Clinical Chemistry and Laboratory Medicine.1998

同被引文献9

  • 1马绍刚,方佩华,杨箐岩,刘戈力,马咸成,许静,李宁,陈慧,冯洁.TSH受体基因突变致先天性甲状腺功能减退症一例及其家系分析[J].中华内分泌代谢杂志,2006,22(1):41-44. 被引量:7
  • 2沈永年.先天性甲状腺功能减低症.见顾学范,叶军主编.新生儿疾病筛查[M].第1版.上海:上海科学技术文献出版社,2003.129-138.
  • 3Rivolta CM & Targovnik HM. Molecular advances in thyroglobulin disorders[ J]. Clinica Chimica Acta ,2006,374:8 - 24.
  • 4Avbelj M, Tahirovic H, Debeljak M, et al. High prevalence of thyroidperoxidase gene mutations in patients with thyroid dyshormonogenesis [J]. Eur J Endocrinol,2007,156: 511 -519.
  • 5Knobel M, Medeiros - Neto G. An outline of inherited disorders of the thyroid hormone generating system[ J]. Thyroid ,2003,13:771 - 801.
  • 6Park SM, Chatterjee VK, Genetics of congenital hypothyroidism [ J ]. J Med Genet ,2005,42 ( 5 ) :379 - 389.
  • 7Kimura'S,Kotani T, McBride OW,et al. Human thyroid peroxidase: eompletec DNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs [ J ]. Proc Natl Acad Sci USA, 1987,84 : 5555 - 5559.
  • 8HGMD: http://www, hgmd. cf. ac. uk/ac/index, php.
  • 9Niu DM ,Hwang B ,Chu YK,et al. High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwan Residents patients with total iodide organification defect, and evidence for a founder effect[J]. J Clin Endocrinol Metab,2002,87(9) :4208 -4212.

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