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81.
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. 总被引:12,自引:0,他引:12
The autosomal dominant retinitis pigmentosa (RP) locus, designated RP1, has been mapped through linkage studies to a 4-cM interval at 8q11-13. Here we describe a new photoreceptor-specific gene that maps in this interval and whose expression is modulated by retinal oxygen levels in vivo. This gene consists of at least 4 exons that encode a predicted protein of 2,156 amino acids. A nonsense mutation at codon 677 of this gene is present in approximately 3% of cases of dominant RP in North America. We also detected two deletion mutations that cause frameshifts and introduce premature termination codons in three other families with dominant RP. Our data suggest that mutations in this gene cause dominant RP, and that the encoded protein has an important but unknown role in photoreceptor biology. 相似文献
82.
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. 总被引:14,自引:0,他引:14
83.
84.
E A Rogaeva S Premkumar J Grubber L Serneels W K Scott T Kawarai Y Song D L Hill S M Abou-Donia E R Martin J J Vance G Yu A Orlacchio Y Pei M Nishimura A Supala B Roberge A M Saunders A D Roses D Schmechel A Crane-Gatherum S Sorbi A Bruni G W Small P M Conneally J L Haines F Van Leuven P H St George-Hyslop L A Farrer M A Pericak-Vance 《Nature genetics》1999,22(1):19-22
85.
Shengnan Wang Chenguang Yuan Nana Chang Yang Song Huamin Zhang Yanbin Yin Xianfeng Li 《科学通报(英文版)》2021,(9):889-896
Aqueous zinc-based batteries (ZBBs) have great potential as commercial energy storage devices.However,the poor cycling stability of zinc anode under high areal ... 相似文献
86.
匡胤 《四川理工学院学报(自然科学版)》2007,20(5):6-9
为了提高科研项目评估的客观性和公正性,选用BP网络为模型,利用逆向建模技术和MATLAB实现了"科研项目选题决策综合模糊评估系统"。测试数据表明该系统能较准确地对科研项目作出评估得分。 相似文献
87.
Da Jiang Yinping Pan Shiyuan Wang Yishi Lin Connor M.Holland John R.Kirtley Xianhui Chen Jun Zhao Lei Chen Shaoyu Yin Yihua Wang 《科学通报(英文版)》2021,(5):425-432
The iron-chalcogenide high temperature superconductor Fe(Se,Te) (FST) has been reported to exhibit complex magnetic ordering and nontrivial band topology which ... 相似文献
88.
Nuclear transfer into mouse zygotes 总被引:6,自引:0,他引:6
89.
Minimum information about a microarray experiment (MIAME)-toward standards for microarray data. 总被引:36,自引:0,他引:36
A Brazma P Hingamp J Quackenbush G Sherlock P Spellman C Stoeckert J Aach W Ansorge C A Ball H C Causton T Gaasterland P Glenisson F C Holstege I F Kim V Markowitz J C Matese H Parkinson A Robinson U Sarkans S Schulze-Kremer J Stewart R Taylor J Vilo M Vingron 《Nature genetics》2001,29(4):365-371
Microarray analysis has become a widely used tool for the generation of gene expression data on a genomic scale. Although many significant results have been derived from microarray studies, one limitation has been the lack of standards for presenting and exchanging such data. Here we present a proposal, the Minimum Information About a Microarray Experiment (MIAME), that describes the minimum information required to ensure that microarray data can be easily interpreted and that results derived from its analysis can be independently verified. The ultimate goal of this work is to establish a standard for recording and reporting microarray-based gene expression data, which will in turn facilitate the establishment of databases and public repositories and enable the development of data analysis tools. With respect to MIAME, we concentrate on defining the content and structure of the necessary information rather than the technical format for capturing it. 相似文献
90.