α-1抗胰蛋白酶缺乏性肝病中种系变异和体细胞变异的相互作用

IF 31.7 1区生物学 Q1 GENETICS & HEREDITY

Nature genetics Pub Date : 2025-04-01 DOI:10.1038/s41588-025-02151-z

Sílvia Vilarinho

引用次数: 0

摘要

本文章由计算机程序翻译，如有差异，请以英文原文为准。

The interplay between germline and somatic variants in alpha-1 anti-trypsin deficiency liver disease

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The interplay between germline and somatic variants in alpha-1 anti-trypsin deficiency liver disease

The biological significance of somatic mutations in rare genetic liver diseases has remained elusive. A study using genomic sequencing paired with experimental cell-based assays has shed light on the selective advantage and accumulation of somatic variants in SERPINA1 found in liver explants from patients with alpha-1 anti-trypsin deficiency.

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来源期刊

Nature genetics 生物-遗传学

CiteScore

43.00

自引率

2.60%

发文量

241

审稿时长

3 months

期刊介绍： Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human and plant traits and on other model organisms. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. Integrative genetic topics comprise, but are not limited to: -Genes in the pathology of human disease -Molecular analysis of simple and complex genetic traits -Cancer genetics -Agricultural genomics -Developmental genetics -Regulatory variation in gene expression -Strategies and technologies for extracting function from genomic data -Pharmacological genomics -Genome evolution