Analysis of 470,000 exome-sequenced UK biobank participants identifies genes containing rare variants which confer dementia risk [0.03%]
对47万例外显子组测序的英国生物样本库参与者进行分析，识别出含致痴呆罕见变异基因
Lily Gibbons,David Curtis
Lily Gibbons
Previous studies have reported that rare coding variants in a handful of genes have major effects on risk of Alzheimer's disease (AD). A recent exome wide association study (ExWAS) of dementia in a subset of the UK Biobank cohort implicated...
Impact of gene-gene interactions in Progressive Supranuclear Palsy: new genetic perspectives in the Asian-Indian population [0.03%]
进行性核上性麻痹中基因-基因互作的影响：亚洲印度人群中的新遗传学视角
Saikat Dey,Monojit Debnath,Ramchandra Yelamanchi et al.
Saikat Dey et al.
Genes play an important role in the risk of Progressive Supranuclear Palsy (PSP). Some of the major risk genes identified for PSP include MAPT, STX6, MOBP, and EIF2AK3 in several ethnic groups. However, the interactions among these genes ha...
A novel role of Arp2/3 complex in the forgetting behavior of Caenorhabditis elegans to Pseudomonas aeruginosa PA14 [0.03%]
Actin相关蛋白2/3复合物在Caenorhabditis elegansPA14遗忘行为中发挥新作用
Xin Zhao,Xinyu Li,Hua Bai et al.
Xin Zhao et al.
Forgetting behavior is a common phenomenon that has been widely studied in various model organisms, including Caenorhabditis elegans (C. elegans), Drosophila, and mammals such as mice and humans. Understanding the mechanisms underlying forg...
Vitamin D receptor FokI polymorphism as a risk factor for painful diabetic neuropathy in type 2 diabetes mellitus patients [0.03%]
维生素D受体FokI基因多态性作为2型糖尿病患者疼痛性糖尿病神经病变的风险因素
Aurelia Vania,Dewa Putu Gde Purwa Samatra,I Made Oka Adnyana et al.
Aurelia Vania et al.
Painful diabetic neuropathy (PDN) is a common complication in patients with type 2 diabetes mellitus (T2DM) with disruption of vitamin D (VD) activity as one of the risk factors. Active VD exerts its biological functions through the vitamin...
Wei-Sheng Lin
Wei-Sheng Lin
Leigh syndrome spectrum is the most common form of childhood-onset mitochondrial encephalopathy and is characterized by progressive neurodegeneration. Treatment options for this condition remain limited to date. Nonetheless, two lines of re...
Deepanshu N D Singh,Matthias Soller
Deepanshu N D Singh
Males transfer many components in seminal fluid along with sperm during mating. While sex peptide is well established as a key regulator of female reproductive behaviour and success, the roles of other seminal fluid components remain less u...
Marek B Körner,Akhil Velluva,Linnaeus Bundalian et al.
Marek B Körner et al.
Pathogenic variants in WDFY3, a gene encoding for an autophagy adaptor termed ALFY, are linked to neurodevelopmental delay and altered brain size in human probands. While the role of WDFY3 loss-of-function is extensively studied in neurons,...
Enthusiasm meets opportunity: in memoriam of William L. Pak, 1932-2023 [0.03%]
热情遇上机遇——怀念威廉·包（1932-2023）教授
Randall Shortridge
Randall Shortridge
Chun-Fang Wu
Chun-Fang Wu