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生成新生儿糖尿病的新候选基因:2型糖尿病胰岛素分泌的功能和遗传学研究。

Generating new candidate genes for neonatal diabetes: functional and genetic studies of insulin secretion in type 2 diabetes.

作者信息

Rutter Guy A

机构信息

Department of Cell Biology, Division of Medicine, Imperial College London, London , UK.

出版信息

Endocr Dev. 2007;12:75-85. doi: 10.1159/000109607.

Abstract

Although the molecular lesions underlying a substantial proportion of all cases of permanent and neonatal diabetes have now been defined, in as many as 30% of cases the defect is unknown. Three complementary approaches may help to define further disease-causing changes: (1) the molecular dissection of the insulin secretory process itself using cellular, physiological and imaging techniques; (2) measurements of the level of expression of beta-cell genes in islets from rodents or humans with type 2 diabetes (T2D) by oligonucleotide micro-array or proteomic analysis, and (3) population-wide whole-genome association studies of T2D. Here, I survey recent published data in this context.

摘要

尽管目前已明确了相当一部分永久性糖尿病和新生儿糖尿病病例背后的分子病变,但仍有多达30%的病例病因不明。三种互补方法可能有助于进一步明确致病变化:(1)运用细胞、生理学和成像技术对胰岛素分泌过程本身进行分子剖析;(2)通过寡核苷酸微阵列或蛋白质组学分析,测量2型糖尿病(T2D)啮齿动物或人类胰岛中β细胞基因的表达水平;(3)针对T2D开展全人群范围的全基因组关联研究。在此,我概述这方面最近发表的数据。

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