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肾移植人群中线粒体基因组的下一代测序及其与IgA肾病的关联

Next-generation sequencing of the mitochondrial genome and association with IgA nephropathy in a renal transplant population.

作者信息

Douglas Adam P, Vance Dwaine R, Kenny Elaine M, Morris Derek W, Maxwell Alexander P, McKnight Amy Jayne

机构信息

Centre for Public Health, Queen's University Belfast, United Kingdom.

TrinSeq, Trinity Genome Sequencing Lab, Department of Psychiatry, Institute of Molecular Medicine, Trinity College, Dublin, Ireland.

出版信息

Sci Rep. 2014 Dec 9;4:7379. doi: 10.1038/srep07379.

Abstract

Kidneys are highly aerobic organs that are critically dependent on the normal functioning of mitochondria. Genetic variations disrupting mitochondrial function are associated with multifactorial disorders including kidney disease. This study sequenced the entire mitochondrial genome in a renal transplant cohort of 64 individuals, using next-generation sequencing, to evaluate the association of genetic variants with IgA nephropathy and end-stage renal disease (ESRD, n = 100).

摘要

肾脏是高度需氧的器官,严重依赖线粒体的正常功能。破坏线粒体功能的基因变异与包括肾脏疾病在内的多因素疾病有关。本研究使用下一代测序技术对64名个体的肾脏移植队列中的整个线粒体基因组进行测序,以评估基因变异与IgA肾病和终末期肾病(ESRD,n = 100)之间的关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4a1/4260226/ba62e71b45ba/srep07379-f1.jpg

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