Congenital hypothyroidism caused by a mutation in the Na+/l-symporter.

作者信息

Fujiwara H

出版信息

Nat Genet. 1997 Sep;17(1):122. doi: 10.1038/ng0997-122a.

DOI:10.1038/ng0997-122a

PMID:9288112

Abstract

摘要

相似文献

Congenital hypothyroidism caused by a mutation in the Na+/l-symporter.

Nat Genet. 1997 Sep;17(1):122. doi: 10.1038/ng0997-122a.

Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.

Nat Genet. 1997 Jun;16(2):124-5. doi: 10.1038/ng0697-124.

Identification of a structural requirement for thyroid Na+/I- symporter (NIS) function from analysis of a mutation that causes human congenital hypothyroidism.

FEBS Lett. 1998 Jun 5;429(1):36-40. doi: 10.1016/s0014-5793(98)00522-5.

Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene.

Clin Chem Lab Med. 1998 Aug;36(8):659-62. doi: 10.1515/CCLM.1998.117.

A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect.

J Clin Endocrinol Metab. 1999 Sep;84(9):3248-53. doi: 10.1210/jcem.84.9.5971.

Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.

J Clin Invest. 1998 Mar 1;101(5):1028-35. doi: 10.1172/JCI1504.

Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.

Biochem Biophys Res Commun. 1997 Nov 17;240(2):488-91. doi: 10.1006/bbrc.1997.7594.

Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.

J Clin Endocrinol Metab. 1998 Aug;83(8):2940-3. doi: 10.1210/jcem.83.8.5029.

Molecular pathogenesis of neonatal hypothyroidism.

Horm Res. 2000;53 Suppl 1:12-8. doi: 10.1159/000053199.

Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.

J Clin Endocrinol Metab. 1998 Sep;83(9):3373-6. doi: 10.1210/jcem.83.9.5245.

引用本文的文献

The Iodide Transport Defect-Causing Y348D Mutation in the Na/I Symporter Renders the Protein Intrinsically Inactive and Impairs Its Targeting to the Plasma Membrane.

Thyroid. 2021 Aug;31(8):1272-1281. doi: 10.1089/thy.2020.0931. Epub 2021 Jun 4.

Na+ coordination at the Na2 site of the Na+/I- symporter.

Proc Natl Acad Sci U S A. 2016 Sep 13;113(37):E5379-88. doi: 10.1073/pnas.1607231113. Epub 2016 Aug 25.

The Na+/I- symporter (NIS): mechanism and medical impact.

Endocr Rev. 2014 Feb;35(1):106-49. doi: 10.1210/er.2012-1036. Epub 2013 Dec 4.

Asn441 plays a key role in folding and function of the Na+/I- symporter (NIS).

FASEB J. 2013 Aug;27(8):3229-38. doi: 10.1096/fj.13-229138. Epub 2013 May 6.

Inherited epithelial transporter disorders--an overview.

J Inherit Metab Dis. 2008 Apr;31(2):178-87. doi: 10.1007/s10545-008-0861-6. Epub 2008 Apr 14.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验