阿尔茨海默病保护基因的搜索策略

IF 8.1 1区医学 Q1 CLINICAL NEUROLOGY

Annals of Neurology Pub Date : 2023-08-13 DOI:10.1002/ana.26764

Kenneth S. Kosik MA, MD

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引用次数: 0

摘要

导致阿尔茨海默病和相关疾病的常染色体显性突变的大家族可以表现出假定的保护性基因变异；然而，目前还没有系统的搜索策略来找到这些基因。这里描述了可能发现保护性变体的独特人口环境和遗传环境。这些基因的鉴定可能揭示具有治疗意义的途径。神经网络2023；94:613–617

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Search Strategies for Alzheimer Protector Genes

Large families with autosomal dominant mutations leading to Alzheimer's disease and related conditions can show putative protective gene variants; however, no systematic search strategy exists to find these genes. Described here are the unique demographic circumstances and genetic setting in which the discovery of protective variants is likely. The identification of these genes may reveal pathways with therapeutic implications. ANN NEUROL 2023;94:613–617

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来源期刊

Annals of Neurology 医学-临床神经学

CiteScore

18.00

自引率

1.80%

发文量

270

审稿时长

3-8 weeks

期刊介绍： Annals of Neurology publishes original articles with potential for high impact in understanding the pathogenesis, clinical and laboratory features, diagnosis, treatment, outcomes and science underlying diseases of the human nervous system. Articles should ideally be of broad interest to the academic neurological community rather than solely to subspecialists in a particular field. Studies involving experimental model system, including those in cell and organ cultures and animals, of direct translational relevance to the understanding of neurological disease are also encouraged.