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::Zygotic gene expression programs control cell differentiation in vertebrate development. In Xenopus, these programs are initiated by local induction of regulatory genes through maternal signaling activities in the wake of zygotic genome activation (ZGA) at the midblastula transition (MBT). These programs lay down the ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006757
更新日期:2017-05-12 00:00:00
abstract::In many insects, the accessory gland, a secretory tissue of the male reproductive system, is essential for male fertility. Male accessory gland is the major source of proteinaceous secretions, collectively called as seminal proteins (or accessory gland proteins), which upon transfer, manipulate the physiology and beha...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006788
更新日期:2017-05-11 00:00:00
abstract::PCNA ubiquitylation on lysine 164 is required for DNA damage tolerance. In many organisms PCNA is also ubiquitylated in unchallenged S phase but the significance of this has not been established. Using Schizosaccharomyces pombe, we demonstrate that lysine 164 ubiquitylation of PCNA contributes to efficient DNA replica...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006789
更新日期:2017-05-08 00:00:00
abstract::Replication forks stall at different DNA obstacles such as those originated by transcription. Fork stalling can lead to DNA double-strand breaks (DSBs) that will be preferentially repaired by homologous recombination when the sister chromatid is available. The Rrm3 helicase is a replisome component that promotes repli...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006781
更新日期:2017-05-05 00:00:00
abstract::Movement of the transcription machinery along a template alters DNA topology resulting in the accumulation of supercoils in DNA. The positive supercoils generated ahead of transcribing RNA polymerase (RNAP) and the negative supercoils accumulating behind impose severe topological constraints impeding transcription pro...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006754
更新日期:2017-05-02 00:00:00
abstract::Cellular adaptation to stress is essential to ensure organismal survival. NRF2/NFE2L2 is a key determinant of xenobiotic stress responses, and loss of negative regulation by the KEAP1-CUL3 proteasome system is implicated in several chemo- and radiation-resistant cancers. Advantageously using C. elegans alongside human...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006762
更新日期:2017-04-28 00:00:00
abstract::Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 1...
journal_title:PLoS genetics
pub_type: 杂志文章,meta分析
doi:10.1371/journal.pgen.1006528
更新日期:2017-04-27 00:00:00
abstract::The cytoplasmic peptide:N-glycanase (Ngly1 in mammals) is a de-N-glycosylating enzyme that is highly conserved among eukaryotes. It was recently reported that subjects harboring mutations in the NGLY1 gene exhibited severe systemic symptoms (NGLY1-deficiency). While the enzyme obviously has a critical role in mammals,...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006696
更新日期:2017-04-20 00:00:00
abstract::Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do not provide direct...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006739
更新日期:2017-04-19 00:00:00
abstract::The contribution of MEF2 TFs to the tumorigenic process is still mysterious. Here we clarify that MEF2 can support both pro-oncogenic or tumor suppressive activities depending on the interaction with co-activators or co-repressors partners. Through these interactions MEF2 supervise histone modifications associated wit...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006752
更新日期:2017-04-18 00:00:00
abstract::In non-motile fungi, sexual reproduction relies on strong morphogenetic changes in response to pheromone signaling. We report here on a systematic screen for morphological abnormalities of the mating process in fission yeast Schizosaccharomyces pombe. We derived a homothallic (self-fertile) collection of viable deleti...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006721
更新日期:2017-04-14 00:00:00
abstract::While several studies have investigated general properties of the genetic architecture of natural variation in gene expression, few of these have considered natural, outbreeding populations. In parallel, systems biology has established that a general feature of biological networks is that they are scale-free, renderin...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006402
更新日期:2017-04-13 00:00:00
abstract::Spatial arrangement of neurite branching is instructed by both attractive and repulsive cues. Here we show that in C. elegans, the Wnt family of secreted glycoproteins specify neurite branching sites in the PLM mechanosensory neurons. Wnts function through MIG-1/Frizzled and the planar cell polarity protein (PCP) VANG...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006720
更新日期:2017-04-06 00:00:00
abstract::The Anaplastic Lymphoma Kinase (Alk) receptor tyrosine kinase (RTK) plays a critical role in the specification of founder cells (FCs) in the Drosophila visceral mesoderm (VM) during embryogenesis. Reporter gene and CRISPR/Cas9 deletion analysis reveals enhancer regions in and upstream of the Alk locus that influence t...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006617
更新日期:2017-04-03 00:00:00
abstract::The hallmark of canonical Wnt signaling is the transcriptional induction of Wnt target genes by the beta-catenin/TCF complex. Several studies have proposed alternative interaction partners for beta-catenin or TCF, but the relevance of potential bifurcations in the distal Wnt pathway remains unclear. Here we study on a...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006700
更新日期:2017-04-03 00:00:00
abstract::During meiotic prophase, a structure called the synaptonemal complex (SC) assembles at the interface between aligned pairs of homologous chromosomes, and crossover recombination events occur between their DNA molecules. Here we investigate the inter-relationships between these two hallmark features of the meiotic prog...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006670
更新日期:2017-03-24 00:00:00
abstract::We propose a novel statistical framework for integrating the result from molecular quantitative trait loci (QTL) mapping into genome-wide genetic association analysis of complex traits, with the primary objectives of quantitatively assessing the enrichment of the molecular QTLs in complex trait-associated genetic vari...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006646
更新日期:2017-03-09 00:00:00
abstract::Nrf2, a transcriptional activator of cell protection genes, is an attractive therapeutic target for the prevention of neurodegenerative diseases, including Alzheimer's disease (AD). Current Nrf2 activators, however, may exert toxicity and pathway over-activation can induce detrimental effects. An understanding of the ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006593
更新日期:2017-03-02 00:00:00
abstract::Mutations in the gene encoding transcription factor TFAP2A result in pigmentation anomalies in model organisms and premature hair graying in humans. However, the pleiotropic functions of TFAP2A and its redundantly-acting paralogs have made the precise contribution of TFAP2-type activity to melanocyte differentiation u...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006636
更新日期:2017-03-01 00:00:00
abstract::Intraflagellar transport (IFT) particles or trains are composed of IFT-A and IFT-B complexes. To assess the working mechanism of the IFT-A complex in IFT and ciliogenesis, we have analyzed ift43 mutants of Chlamydomnonas in conjunction with mutants of the other IFT-A subunits. An ift43 null mutant or a mutant with a p...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006627
更新日期:2017-02-16 00:00:00
abstract::Evolutionary outcomes depend not only on the selective forces acting upon a species, but also on the genetic background. However, large timescales and uncertain historical selection pressures can make it difficult to discern such important background differences between species. Experimental evolution is one tool to c...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006585
更新日期:2017-02-14 00:00:00
abstract::Understanding buffering mechanisms for various perturbations is essential for understanding robustness in cellular systems. Protein-level dosage compensation, which arises when changes in gene copy number do not translate linearly into protein level, is one mechanism for buffering against genetic perturbations. Here, ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006554
更新日期:2017-01-25 00:00:00
abstract::Monospermic fertilization is mediated by the extracellular zona pellucida composed of ZP1, ZP2 and ZP3. Sperm bind to the N-terminus of ZP2 which is cleaved after fertilization by ovastacin (encoded by Astl) exocytosed from egg cortical granules to prevent sperm binding. AstlNull mice lack the post-fertilization block...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006580
更新日期:2017-01-23 00:00:00
abstract::The mammalian Y chromosome plays a critical role in spermatogenesis. However, the exact functions of each gene in the Y chromosome have not been completely elucidated, partly owing to difficulties in gene targeting analysis of the Y chromosome. Zfy was first proposed to be a sex determination factor, but its function ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006578
更新日期:2017-01-23 00:00:00
abstract::Intercellular communication mediated by gap junction (GJ) proteins is indispensable during embryogenesis, tissue regeneration and wound healing. Here we report functional analysis of a gap junction protein, Innexin 2 (Inx2), in cell type specification during Drosophila oogenesis. Our data reveal a novel involvement of...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006542
更新日期:2017-01-23 00:00:00
abstract::[This corrects the article DOI: 10.1371/journal.pgen.1005038.]. ...
journal_title:PLoS genetics
pub_type: 已发布勘误
doi:10.1371/journal.pgen.1006559
更新日期:2017-01-20 00:00:00
abstract::Cooperative transcription factor binding at cis-regulatory sites in the genome drives robust eukaryotic gene expression, and many such sites must be coordinated to produce coherent transcriptional programs. The transcriptional program leading to motile cilia formation requires members of the DNA-binding forkhead (Fox)...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006538
更新日期:2017-01-19 00:00:00
abstract::The heart has emerged as an important organ in the regulation of systemic lipid homeostasis; however, the underlying mechanism remains poorly understood. Here, we show that Drosophila cardiomyocytes regulate systemic lipid metabolism by producing apolipoprotein B-containing lipoproteins (apoB-lipoproteins), essential ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006555
更新日期:2017-01-17 00:00:00
abstract::N-methyl-D-aspartate receptors (NMDARs), ligand-gated ionotropic glutamate receptors, play key roles in normal brain development and various neurological disorders. Here we use standing variation data from the human population to assess which protein domains within NMDAR GluN1, GluN2A and GluN2B subunits show the stro...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006536
更新日期:2017-01-17 00:00:00
abstract::The rate of germline mutation varies widely between species but little is known about the extent of variation in the germline mutation rate between individuals of the same species. Here we demonstrate that an allele that increases the rate of germline mutation can result in a distinctive signature in the genomic regio...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006549
更新日期:2017-01-17 00:00:00
abstract::Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutation...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006470
更新日期:2017-01-12 00:00:00
abstract::Prostate cancer incidence is increasing in younger men. We investigated whether men diagnosed with Gleason 7 (3+4) T2 prostate cancer at younger ages (≤ 45 years, young cohort) had different mRNA and miRNA expression profiles than men diagnosed at older ages (71-74 years, older cohort). We identified differentially ex...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006477
更新日期:2016-12-27 00:00:00
abstract::The ability of specific neurons to regenerate their axons after injury is governed by cell-intrinsic regeneration pathways. However, the signaling pathways that orchestrate axon regeneration are not well understood. In Caenorhabditis elegans, initiation of axon regeneration is positively regulated by SVH-2 Met-like gr...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006475
更新日期:2016-12-16 00:00:00
abstract::Altered daily patterns of hormone action are suspected to contribute to metabolic disease. It is poorly understood how the adrenal glucocorticoid hormones contribute to the coordination of daily global patterns of transcription and metabolism. Here, we examined diurnal metabolite and transcriptome patterns in a zebraf...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006512
更新日期:2016-12-12 00:00:00
abstract::The Ku complex binds non-specifically to DNA breaks and ensures repair via NHEJ. However, Ku is also known to bind directly to telomeric DNA ends and its presence there is associated with telomere capping, but avoiding NHEJ. How the complex discriminates between a DNA break and a telomeric extremity remains unknown. O...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006479
更新日期:2016-12-08 00:00:00
abstract::[This corrects the article DOI: 10.1371/journal.pgen.1004496.]. ...
journal_title:PLoS genetics
pub_type: 已发布勘误
doi:10.1371/journal.pgen.1006491
更新日期:2016-12-05 00:00:00
abstract::Proteins secreted by pathogens during host colonization largely determine the outcome of pathogen-host interactions and are commonly called 'effectors'. In fungal plant pathogens, coordinated transcriptional up-regulation of effector genes is a key feature of pathogenesis and effectors are often encoded in genomic reg...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006401
更新日期:2016-11-17 00:00:00
abstract::Mutation of the DNA molecule is one of the most fundamental processes in biology. In this study, we use 283 parent-offspring trios to estimate the rate of mutation for both single nucleotide variants (SNVs) and short length variants (indels) in humans and examine the mutation process. We found 17812 SNVs, correspondin...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006315
更新日期:2016-11-15 00:00:00
abstract::Gaining insights into genetic predisposition to age-related diseases and lifespan is a challenging task complicated by the elusive role of evolution in these phenotypes. To gain more insights, we combined methods of genome-wide and candidate-gene studies. Genome-wide scan in the Atherosclerosis Risk in Communities (AR...
journal_title:PLoS genetics
pub_type: 杂志文章,meta分析
doi:10.1371/journal.pgen.1006314
更新日期:2016-11-10 00:00:00
abstract::The Rif1 protein is a negative regulator of DNA replication initiation in eukaryotes. Here we show that budding yeast Rif1 inhibits DNA replication initiation at the rDNA locus. Absence of Rif1, or disruption of its interaction with PP1/Glc7 phosphatase, leads to more intensive rDNA replication. The effect of Rif1-Glc...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006414
更新日期:2016-11-07 00:00:00