Biological aging and lifespan in men and women using a Mendelian randomization study [0.03%]
基于孟德尔随机化研究下的男性和女性的生物衰老与寿命上限之间的关系
C M Schooling,Shun Li,Zhu Liduzi Jiesisibieke
C M Schooling
Purpose: Identification of targets of intervention to promote lifespan is crucial given lifespan is an important measure of public health. Telomere length and epigenetic clocks are key biological markers of aging, whether...
Donrich Thaldar
Donrich Thaldar
As genomic research scales globally, legal constraints such as data localization provisions in data privacy and other laws and ethical imperatives around privacy and sovereignty increasingly challenge traditional models of data sharing. Dat...
Molecular mechanisms of air pollution-induced carcinogenesis and the emerging role of microplastics [0.03%]
空气污染致癌症发生的分子机制及微塑料的新兴作用
Julia Vu,Kari Nadeau,Maya Kasowski
Julia Vu
Ambient air pollution is a major environmental carcinogen consisting of a complex mixture of particulate matter, gases, and adsorbed toxicants. Fine (PM2.5) and ultrafine (PM0.1) particles are of particular concern due to their capacity to ...
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders [0.03%]
评估gnomAD变异共现信息在常染色体隐性疾病单体型相位分配中的应用价值
Jaeryuk Kim,Gu-Hwan Kim,Sunghee Min et al.
Jaeryuk Kim et al.
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations [0.03%]
基于125,000多名个体的系谱依赖性体细胞嵌合模式和克隆造血基因组特征揭示了不同的癌症相关性
Christelle Colin-Leitzinger,Yi-Han Tang,Mingxiang Teng et al.
Christelle Colin-Leitzinger et al.
Somatic mosaicism (SM), the presence of somatic mutations, is classified as clonal hematopoiesis (CH) when it occurs in hematopoietic cells at an age-related rate. CH is associated with risk for hematologic malignancies and cardiovascular d...
Germline variant spectrum of hereditary cancer susceptibility genes in a Chinese cohort [0.03%]
中国人种系癌症易感基因变异谱分析
Chanyu Xiong,Xiao Wang,Juanjuan Ji et al.
Chanyu Xiong et al.
Genome-wide association study of lung function decline using elastic-net regression: a prospective analysis in Korean cohort [0.03%]
基于弹性网回归的肺功能减退全基因组关联研究：韩国队列人群中一项前瞻性分析
Eunhye Bae,Sohee Oh,Jung-Kyu Lee et al.
Eunhye Bae et al.
Background: A rapid decline in forced expiratory volume in one second (FEV1) can lead to chronic airway disease and is associated with poor prognosis. This study aims to identify single nucleotide polymorphisms (SNPs) ass...
Functional analysis of BRCA1 and BRCA2 splicing variants using a minigene assay [0.03%]
使用最小基因测定分析BRCA1和BRCA2剪接变异的功能效应
Hara Yim,Seonhoo Youn,Seung Won Chae et al.
Hara Yim et al.
Background: BRCA1 and BRCA2, known as tumor suppressor genes, have been shown to increase the risk of developing breast and ovarian cancer. Intronic variants that can result in aberrant splicing events are classified as V...
Multi-region spatial transcriptomics reveals region specific differences in response to amyloid beta (Aβ) plaque induced changes in Alzheimer's disease (AD) [0.03%]
多区域空间转录组学揭示了阿尔茨海默病(Aβ)斑块诱导的改变的区域特异性差异
Odmaa Bayaraa,Michael Aksu,Evon DeBose-Scarlett et al.
Odmaa Bayaraa et al.
Background: Alzheimer's disease (AD) is the leading cause of dementia affecting 55 million people worldwide. The pathological hallmarks of AD, beta-amyloid (Aβ) plaques and neurofibrillary tangles (NFT), follow distinct ...
Closing the evidence loop-membrane-lipid homeostasis and vesicular transport link DEHP exposure to endometriosis [0.03%]
证据闭环：膜脂稳态和囊泡运输与DEHP暴露联系子宫内膜异位症的风险
Yonggang Dai,Lu Zhang,Tian Wang et al.
Yonggang Dai et al.
Background: The causal bridge from environmental exposure to endometriosis (Ems) biology remains incompletely defined. Di(2-ethylhexyl) phthalate (DEHP) is repeatedly implicated in elevated Ems risk, yet actionable molecu...