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一例中国人PENDRED综合征家系的临床和分子生物学研究 被引量:2

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出处 《中华内科杂志》 CAS CSCD 北大核心 2006年第1期59-61,共3页 Chinese Journal of Internal Medicine
基金 上海市教委重点学科建设经费资助项目(E03007)
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参考文献12

  • 1Pendred V.Deaf-mutism and goitre.Lancet,1896,2:532.
  • 2Everett LA,Glaser B,Beck JC,et al.Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).Nat Genet,1997,17:411-422.
  • 3Illum P,Kiaer HW,Hvidberg-Hansen J,et al.Fifteen cases of Pendred′s syndrome.Congenital deafness and sporadic goiter.Arch Otolaryngol,1972,96:297-304.
  • 4Sheffield VC,Kraiem Z,Beck JC,et al.Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.Nat Genet,1996,12:424-426.
  • 5Scott DA,Wang R,Kreman TM,et al.Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).Hum Mol Genet,2000,9:1709-1715.
  • 6Dawson PA,Markovich D.Pathogenetics of the human SLC26 transporters.Curr Med Chem,2005,12:385-396.
  • 7Napiontek U,Borck G,Muller-Forell W,et al.Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.J Clin Endocrinol Metab,2004,89:5347-5351.
  • 8Coucke PJ,Van Hauwe P,Everett LA,et al.Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.J Med Genet,1999,36:475-477.
  • 9Yoshida A,Hisatome I,Taniguchi S,et al.Mechanism of iodide/chloride exchange by pendrin.Endocrinology,2004,145:4301-4308.
  • 10Yoshida A,Taniguchi S,Hisatome I,et al.Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells.J Clin Endocrinol Metab,2002,87:3356-3361.

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