解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::Abnormal fetal growth is a risk factor for infant morbidity and mortality and is associated with cardiometabolic diseases in adults. Genetic influences on fetal growth can vary at different gestation times, but genome-wide association studies have been limited to birthweight. We performed trans-ethnic genome-wide meta...
journal_title:PLoS genetics
pub_type: 杂志文章,meta分析
doi:10.1371/journal.pgen.1008747
更新日期:2020-05-14 00:00:00
abstract::Complex traits are known to be influenced by a combination of environmental factors and rare and common genetic variants. However, detection of such multivariate associations can be compromised by low statistical power and confounding by population structure. Linear mixed effects models (LMM) can account for correlati...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008766
更新日期:2020-05-04 00:00:00
abstract::Bases within DNA are frequently damaged, producing obstacles to efficient and accurate DNA replication by replicative polymerases. Translesion synthesis (TLS) polymerases, via their ability to catalyze nucleotide additions to growing DNA chains across DNA lesions, promote replication of damaged DNA, thus preventing ch...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008759
更新日期:2020-04-24 00:00:00
abstract::The Alphaproteobacteria show a remarkable diversity of cell cycle-dependent developmental patterns, which are governed by the conserved CtrA pathway. Its central component CtrA is a DNA-binding response regulator that is controlled by a complex two-component signaling network, mediating distinct transcriptional progra...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008724
更新日期:2020-04-23 00:00:00
abstract::Undifferentiated embryonal sarcoma of the liver (UESL) is a rare and aggressive malignancy. Though the molecular underpinnings of this cancer have been largely unexplored, recurrent chromosomal breakpoints affecting a noncoding region on chr19q13, which includes the chromosome 19 microRNA cluster (C19MC), have been re...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008642
更新日期:2020-04-20 00:00:00
abstract::Understanding the extent to which ecological divergence is repeatable is essential for predicting responses of biodiversity to environmental change. Here we test the predictability of evolution, from genotype to phenotype, by studying parallel evolution in a salmonid fish, Arctic charr (Salvelinus alpinus), across ele...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008658
更新日期:2020-04-17 00:00:00
abstract::The cerebellum is a pivotal centre for the integration and processing of motor and sensory information. Its extended development into the postnatal period makes this structure vulnerable to a variety of pathologies, including neoplasia. These properties have prompted intensive investigations that reveal not only devel...
journal_title:PLoS genetics
pub_type: 杂志文章,评审
doi:10.1371/journal.pgen.1008630
更新日期:2020-04-16 00:00:00
abstract::Loss of the XPF-ERCC1 endonuclease causes a dramatic phenotype that results in progeroid features associated with liver, kidney and bone marrow dysfunction. As this nuclease is involved in multiple DNA repair transactions, it is plausible that this severe phenotype results from the simultaneous inactivation of both br...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008555
更新日期:2020-04-09 00:00:00
abstract::In flowering plants, gene expression in the haploid male gametophyte (pollen) is essential for sperm delivery and double fertilization. Pollen also undergoes dynamic epigenetic regulation of expression from transposable elements (TEs), but how this process interacts with gene expression is not clearly understood. To e...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008462
更新日期:2020-04-01 00:00:00
abstract::Sleep is a nearly universal behavior that is regulated by diverse environmental stimuli and physiological states. A defining feature of sleep is a homeostatic rebound following deprivation, where animals compensate for lost sleep by increasing sleep duration and/or sleep depth. The fruit fly, Drosophila melanogaster, ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008270
更新日期:2020-03-11 00:00:00
abstract::Nervous systems have the ability to select appropriate actions and action sequences in response to sensory cues. The circuit mechanisms by which nervous systems achieve choice, stability and transitions between behaviors are still incompletely understood. To identify neurons and brain areas involved in controlling the...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008589
更新日期:2020-02-14 00:00:00
abstract::The genetic architecture of the small and isolated Greenlandic population is advantageous for identification of novel genetic variants associated with cardio-metabolic traits. We aimed to identify genetic loci associated with body mass index (BMI), to expand the knowledge of the genetic and biological mechanisms under...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008544
更新日期:2020-01-24 00:00:00
abstract::The human pathogens N. gonorrhoeae and N. meningitidis display robust intra- and interstrain glycan diversity associated with their O-linked protein glycosylation (pgl) systems. In an effort to better understand the evolution and function of protein glycosylation operating there, we aimed to determine if other human-r...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008532
更新日期:2019-12-23 00:00:00
abstract::[This corrects the article DOI: 10.1371/journal.pgen.1008320.]. ...
journal_title:PLoS genetics
pub_type: 已发布勘误
doi:10.1371/journal.pgen.1008556
更新日期:2019-12-19 00:00:00
abstract::Malaria parasites follow a complex life cycle that consists of multiple stages that span from the human host to the mosquito vector. Among the species causing malaria, Plasmodium falciparum is the most lethal, with clinical symptoms manifesting during the intraerythrocytic developmental cycle (IDC). During the IDC, P....
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008506
更新日期:2019-12-19 00:00:00
abstract::Despite strong vetting for disease activity, only 10% of candidate new molecular entities in early stage clinical trials are eventually approved. Analyzing historical pipeline data, Nelson et al. 2015 (Nat. Genet.) concluded pipeline drug targets with human genetic evidence of disease association are twice as likely t...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008489
更新日期:2019-12-12 00:00:00
abstract::Faithful replication and repair of DNA lesions ensure genome maintenance. During replication in eukaryotic cells, DNA is unwound by the CMG helicase complex, which is composed of three major components: the Cdc45 protein, Mcm2-7, and the GINS complex. The CMG in complex with DNA polymerase epsilon (CMG-E) participates...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008494
更新日期:2019-12-09 00:00:00
abstract::Cellulolytic fungi have evolved a complex regulatory network to maintain the precise balance of nutrients required for growth and hydrolytic enzyme production. When fungi are exposed to cellulose, the transcript levels of cellulase genes rapidly increase and then decline. However, the mechanisms underlying this bell-s...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008510
更新日期:2019-11-25 00:00:00
abstract::The lipopolysaccharide O-antigen structure expressed by the European Helicobacter pylori model strain G27 encompasses a trisaccharide, an intervening glucan-heptan and distal Lewis antigens that promote immune escape. However, several gaps still remain in the corresponding biosynthetic pathway. Here, systematic mutage...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008497
更新日期:2019-11-20 00:00:00
abstract::The kinetochore is the central molecular machine that drives chromosome segregation in all eukaryotes. Genetic studies have suggested that protein sumoylation plays a role in regulating the inner kinetochore; however, the mechanism remains elusive. Here, we show that Saccharomyces cerevisiae Ulp2, an evolutionarily co...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008477
更新日期:2019-11-20 00:00:00
abstract::Small heat shock proteins (sHsps) are a conserved class of ATP-independent chaperones that bind to aggregation-prone polypeptides at stress conditions. sHsps encage these polypeptides in assemblies, shielding them from further aggregation. To facilitate their subsequent solubilization and refolding by Hsp70 (DnaK) and...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008479
更新日期:2019-10-25 00:00:00
abstract::Wnt signaling regulates primary body axis formation across the Metazoa, with high Wnt signaling specifying posterior identity. Whether a common Wnt-driven transcriptional program accomplishes this broad role is poorly understood. We identified genes acutely affected after Wnt signaling inhibition in the posterior of t...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008401
更新日期:2019-10-18 00:00:00
abstract::Genome-wide association studies (GWAS) have now been conducted for hundreds of phenotypes of relevance to human health. Many such GWAS involve multiple closely-related phenotypes collected on the same samples. However, the vast majority of these GWAS have been analyzed using simple univariate analyses, which consider ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008431
更新日期:2019-10-09 00:00:00
abstract::Mitochondria have been increasingly recognized as a central regulatory nexus for multiple metabolic pathways, in addition to ATP production via oxidative phosphorylation (OXPHOS). Here we show that inducing mitochondrial DNA (mtDNA) stress in Drosophila using a mitochondrially-targeted Type I restriction endonuclease ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008410
更新日期:2019-10-04 00:00:00
abstract::Communication between neoplastic cells and cells of their microenvironment is critical to cancer progression. To investigate the role of cytoneme-mediated signaling as a mechanism for distributing growth factor signaling proteins between tumor and tumor-associated cells, we analyzed EGFR and RET Drosophila tumor model...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008415
更新日期:2019-09-30 00:00:00
abstract::Auxin is a major developmental regulator in plants and the acquisition of a transcriptional response to auxin likely contributed to developmental innovations at the time of water-to-land transition. Auxin Response Factors (ARFs) Transcription Factors (TFs) that mediate auxin-dependent transcriptional changes are divid...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008400
更新日期:2019-09-25 00:00:00
abstract::Iran, despite its size, geographic location and past cultural influence, has largely been a blind spot for human population genetic studies. With only sparse genetic information on the Iranian population available, we pursued its genome-wide and geographic characterization based on 1021 samples from eleven ethnic grou...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008385
更新日期:2019-09-24 00:00:00
abstract::Many microbes exhibit quorum sensing (QS) to cooperate, share and perform a social task in unison. Recent studies have shown the emergence of reversible phenotypic heterogeneity in the QS-responding pathogenic microbial population under laboratory conditions as a possible bet-hedging survival strategy. However, very l...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008395
更新日期:2019-09-17 00:00:00
abstract::Genomic resources for the domestic dog have improved with the widespread adoption of a 173k SNP array platform and updated reference genome. SNP arrays of this density are sufficient for detecting genetic associations within breeds but are underpowered for finding associations across multiple breeds or in mixed-breed ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008003
更新日期:2019-09-16 00:00:00
abstract::Efficient adaptation to iron starvation is an essential virulence determinant of the most common human mold pathogen, Aspergillus fumigatus. Here, we demonstrate that the cytosolic monothiol glutaredoxin GrxD plays an essential role in iron sensing in this fungus. Our studies revealed that (i) GrxD is essential for gr...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008379
更新日期:2019-09-16 00:00:00
abstract::Sexual development is a key evolutionary innovation of eukaryotes. In many species, mating involves interaction between compatible mating partners that can undergo cell and nuclear fusion and subsequent steps of development including meiosis. Mating compatibility in fungi is governed by the mating type (MAT) loci. In ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008365
更新日期:2019-09-06 00:00:00
abstract::Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme whose function is important for the biosynthesis of purines, pyrimidines, and pyridines. Importantly, while missense mutations of PRPS1 have been identified in neurological disorders such as Arts syndrome, how they contribute to neuropathogenesis...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008376
更新日期:2019-09-05 00:00:00
abstract::Ribosome assembly cofactors are widely conserved across all domains of life. One such group, the ribosome-associated GTPases (RA-GTPase), act as molecular switches to coordinate ribosome assembly. We previously identified the Staphylococcus aureus RA-GTPase Era as a target for the stringent response alarmone (p)ppGpp,...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008346
更新日期:2019-08-29 00:00:00
abstract::Parkinson's disease (PD) is a neurodegenerative disorder characterized by the loss of dopamine (DA) neurons in the substantia nigra pars compacta (SNc). Rare genetic mutations in genes such as Parkin, Pink1, DJ-1, α-synuclein, LRRK2 and GBA are found to be responsible for the disease in about 15% of the cases. A key u...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008352
更新日期:2019-08-26 00:00:00
abstract::Teleost fishes, thanks to their rapid evolution of sex determination mechanisms, provide remarkable opportunities to study the formation of sex chromosomes and the mechanisms driving the birth of new master sex determining (MSD) genes. However, the evolutionary interplay between the sex chromosomes and the MSD genes t...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008013
更新日期:2019-08-22 00:00:00
abstract::Allele age has long been a focus of population genetic research, primarily because it can be an important clue to the fitness effects of an allele. By virtue of their effects on fitness, alleles under directional selection are expected to be younger than neutral alleles of the same frequency. We developed a new coales...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008340
更新日期:2019-08-19 00:00:00
abstract::DNA methyltransferases are ubiquitous enzymes conserved in bacteria, plants and opisthokonta. These enzymes, which methylate cytosines, are involved in numerous biological processes, notably development. In mammals and higher plants, methylation patterns established and maintained by the cytosine DNA methyltransferase...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008086
更新日期:2019-08-14 00:00:00
abstract::Proteins associated with familial neurodegenerative disease often aggregate in patients' neurons. Several such proteins, e.g. TDP-43, aggregate and are toxic when expressed in yeast. Deletion of the ATXN2 ortholog, PBP1, reduces yeast TDP-43 toxicity, which led to identification of ATXN2 as an amyotrophic lateral scle...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008308
更新日期:2019-08-07 00:00:00
abstract::The length of cilia is controlled by a poorly understood mechanism that involves members of the conserved RCK kinase group, and among them, the LF4/MOK kinases. The multiciliated protist model, Tetrahymena, carries two types of cilia (oral and locomotory) and the length of the locomotory cilia is dependent on their po...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008099
更新日期:2019-07-24 00:00:00
abstract::Development of eye tissue is initiated by a conserved set of transcription factors termed retinal determination network (RDN). In the fruit fly Drosophila melanogaster, the zinc-finger transcription factor Glass acts directly downstream of the RDN to control identity of photoreceptor as well as non-photoreceptor cells...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008269
更新日期:2019-07-12 00:00:00