雄激素受体基因中一种罕见的多嘧啶序列突变导致完全性雄激素不敏感综合征。 - Suppr

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超能文献

A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome.

作者信息

Yuan Shi-Min, Huang Huan, Tu Chao-Feng, Du Juan, Xu Da-Bao, Lin Ge, Lu Guang-Xiu, Tan Yue-Qiu

机构信息

Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha 410078, China.

Reproductive and Genetic Hospital of Citic-Xiangya, Changsha 410078, China.

出版信息

Asian J Androl. 2018 May-Jun;20(3):308-310. doi: 10.4103/aja.aja_32_17.

DOI:10.4103/aja.aja_32_17

PMID:28857053

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5952489/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ace/5952489/841fe086c44e/AJA-20-308-g001.jpg

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本文引用的文献

Structure of the homodimeric androgen receptor ligand-binding domain.同源二聚体雄激素受体配体结合域的结构。

Nat Commun. 2017 Feb 6;8:14388. doi: 10.1038/ncomms14388.

A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family.雄激素受体基因中的一个错义突变导致一个中国家庭出现雄激素不敏感综合征。

Asian J Androl. 2017 Mar-Apr;19(2):260-261. doi: 10.4103/1008-682X.172647.

RNA mis-splicing in disease.疾病中的RNA错配剪接

Nat Rev Genet. 2016 Jan;17(1):19-32. doi: 10.1038/nrg.2015.3. Epub 2015 Nov 23.

J Steroid Biochem Mol Biol. 2016 Jan;155(Pt A):63-6. doi: 10.1016/j.jsbmb.2015.09.042. Epub 2015 Oct 3.

Androgen insensitivity syndrome.雄激素不敏感综合征。

Lancet. 2012 Oct 20;380(9851):1419-28. doi: 10.1016/S0140-6736(12)60071-3. Epub 2012 Jun 13.

Expansion of the eukaryotic proteome by alternative splicing.通过选择性剪接扩展真核生物蛋白质组。

Nature. 2010 Jan 28;463(7280):457-63. doi: 10.1038/nature08909.

Evidence for a linear search in bimolecular 3' splice site AG selection.双分子3'剪接位点AG选择中线性搜索的证据。

Proc Natl Acad Sci U S A. 2000 Jan 18;97(2):593-8. doi: 10.1073/pnas.97.2.593.

Bimolecular exon ligation by the human spliceosome.人类剪接体介导的双分子外显子连接

Science. 1997 Jun 13;276(5319):1712-6. doi: 10.1126/science.276.5319.1712.

The organization of 3' splice-site sequences in mammalian introns.哺乳动物内含子中3'剪接位点序列的组织方式。

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Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique.人类雄激素受体基因中的单碱基突变导致完全性雄激素不敏感：通过改良的变性梯度凝胶电泳技术进行快速检测。

Mol Endocrinol. 1992 Nov;6(11):1909-20. doi: 10.1210/mend.6.11.1480178.

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