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::Endoreplication is a cell cycle variant that entails cell growth and periodic genome duplication without cell division, and results in large, polyploid cells. Cells switch from mitotic cycles to endoreplication cycles during development, and also in response to conditional stimuli during wound healing, regeneration, a...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008253
更新日期:2019-07-10 00:00:00
abstract::The neural crest (NC) is a vertebrate-specific cell type that contributes to a wide range of different tissues across all three germ layers. The gene regulatory network (GRN) responsible for the formation of neural crest is conserved across vertebrates. Central to the induction of the NC GRN are AP-2 and SoxE transcri...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008213
更新日期:2019-06-14 00:00:00
abstract::The relationship between population size, inbreeding, loss of genetic variation and evolutionary potential of fitness traits is still unresolved, and large-scale empirical studies testing theoretical expectations are surprisingly scarce. Here we present a highly replicated experimental evolution setup with 120 lines o...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008205
更新日期:2019-06-12 00:00:00
abstract::During meiotic prophase I, double-strand breaks (DSBs) initiate homologous recombination leading to non-crossovers (NCOs) and crossovers (COs). In mouse, 10% of DSBs are designated to become COs, primarily through a pathway dependent on the MLH1-MLH3 heterodimer (MutLγ). Mlh3 contains an endonuclease domain that is cr...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008177
更新日期:2019-06-06 00:00:00
abstract::Sister centromere fusion is a process unique to meiosis that promotes co-orientation of the sister kinetochores, ensuring they attach to microtubules from the same pole during metaphase I. We have found that the kinetochore protein SPC105R/KNL1 and Protein Phosphatase 1 (PP1-87B) regulate sister centromere fusion in D...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008072
更新日期:2019-05-31 00:00:00
abstract::The interplay of microbiota and the human host is physiologically crucial in health and diseases. The beneficial effects of lactic acid bacteria (LAB), permanently colonizing the human intestine or transiently obtained from food, have been extensively reported. However, the molecular understanding of how LAB modulate ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008145
更新日期:2019-05-23 00:00:00
abstract::In flat-faced dog breeds, air resistance caused by skull conformation is believed to be a major determinant of Brachycephalic Obstructive Airway Syndrome (BOAS). The clinical presentation of BOAS is heterogeneous, suggesting determinants independent of skull conformation contribute to airway disease. Norwich Terriers,...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008102
更新日期:2019-05-16 00:00:00
abstract::Hybrid genotypes have been repeatedly described among natural isolates of Leishmania, and the recovery of experimental hybrids from sand flies co-infected with different strains or species of Leishmania has formally demonstrated that members of the genus possess the machinery for genetic exchange. As neither gamete st...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008042
更新日期:2019-05-15 00:00:00
abstract::For many genes, proper gene expression requires coordinated and dynamic interactions between multiple regulatory elements, each of which can either promote or silence transcription. In Drosophila, the complexity of the regulatory landscape is further complicated by the tight physical pairing of homologous chromosomes,...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008152
更新日期:2019-05-10 00:00:00
abstract::Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitutes the extreme of hyperopia or farsightedness, a common refractive e...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008130
更新日期:2019-05-02 00:00:00
abstract::In many cases protein assemblies are stabilized by covalent bonds, one example of which is the formation of intra- or intermolecular ε-(γ-glutamyl)lysil cross-links catalyzed by transglutaminases (TGases). Because of the potential for unwanted cross-linking reactions, the activities of many TGases have been shown to b...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007912
更新日期:2019-04-08 00:00:00
abstract::Recent and classical work has revealed biologically and medically significant subtypes in complex diseases and traits. However, relevant subtypes are often unknown, unmeasured, or actively debated, making automated statistical approaches to subtype definition valuable. We propose reverse GWAS (RGWAS) to identify and v...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008009
更新日期:2019-04-05 00:00:00
abstract::At the molecular level, the evolution of new traits can be broadly divided between changes in gene expression and changes in protein-coding sequence. For proteins, the evolution of novel functions is generally thought to proceed through sequential point mutations or recombination of whole functional units. In Saccharo...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007786
更新日期:2019-04-04 00:00:00
abstract::Human chromosome 15q25 is involved in several disease-associated structural rearrangements, including microdeletions and chromosomal markers with inverted duplications. Using comparative fluorescence in situ hybridization, strand-sequencing, single-molecule, real-time sequencing and Bionano optical mapping analyses, w...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008075
更新日期:2019-03-27 00:00:00
abstract::Mast cell tumours are the most common type of skin cancer in dogs, representing a significant concern in canine health. The molecular pathogenesis is largely unknown, but breed-predisposition for mast cell tumour development suggests the involvement of inherited genetic risk factors in some breeds. In this study, we a...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007967
更新日期:2019-03-22 00:00:00
abstract::Rare individuals with inactivating mutations in the Huntington's disease gene (HTT) exhibit variable abnormalities that imply essential HTT roles during organ development. Here we report phenotypes produced when increasingly severe hypomorphic mutations in the murine HTT orthologue Htt, (HdhneoQ20, HdhneoQ50, HdhneoQ1...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007765
更新日期:2019-03-21 00:00:00
abstract::Lethal recessive alleles cause pre- or postnatal death in homozygous affected individuals, reducing fertility. Especially in small size domestic and wild populations, those alleles might be exposed by inbreeding, caused by matings between related parents that inherited the same recessive lethal allele from a common an...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008055
更新日期:2019-03-15 00:00:00
abstract::Diet is a crucial determinant of organismal biology; interactions between the host, its diet, and its microbiota are critical to determining the health of an organism. A variety of genetic and biochemical means were used to assay stress sensitivity in C. elegans reared on two standard laboratory diets: E. coli OP50, t...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008011
更新日期:2019-03-13 00:00:00
abstract::Populations in sub-Saharan Africa have historically been exposed to intense selection from chronic infection with falciparum malaria. Interestingly, populations with the highest malaria intensity can be identified by the increased occurrence of endemic Burkitt Lymphoma (eBL), a pediatric cancer that affects population...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008027
更新日期:2019-03-08 00:00:00
abstract::The deregulation of metabolism is a hallmark of aging. As such, changes in the expression of metabolic genes and the profiles of amino acid levels are features associated with aging animals. We previously reported that the levels of most amino acids decline with age in Caenorhabditis elegans (C. elegans). Glycine, in ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007633
更新日期:2019-03-07 00:00:00
abstract::[This corrects the article DOI: 10.1371/journal.pgen.1007814.]. ...
journal_title:PLoS genetics
pub_type: 杂志文章,已发布勘误
doi:10.1371/journal.pgen.1008016
更新日期:2019-02-28 00:00:00
abstract::Skin pigment patterns are important, being under strong selection for multiple roles including camouflage and UV protection. Pigment cells underlying these patterns form from adult pigment stem cells (APSCs). In zebrafish, APSCs derive from embryonic neural crest cells, but sit dormant until activated to produce pigme...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007941
更新日期:2019-02-27 00:00:00
abstract::Aversive learning and memories are crucial for animals to avoid previously encountered stressful stimuli and thereby increase their chance of survival. Neuropeptides are essential signaling molecules in the brain and are emerging as important modulators of learned behaviors, but their precise role is not well understo...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007945
更新日期:2019-02-19 00:00:00
abstract::Marine ecosystems are changing rapidly as the oceans warm and become more acidic. The physical factors and the changes to ocean chemistry that they drive can all be measured with great precision. Changes in the biological composition of communities in different ocean regions are far more challenging to measure because...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007943
更新日期:2019-02-08 00:00:00
abstract::RNA interference (RNAi) related pathways are essential for germline development and fertility in metazoa and can contribute to inter- and trans-generational inheritance. In the nematode Caenorhabditis elegans, environmental double-stranded RNA provided by feeding can lead to heritable changes in phenotype and gene exp...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007905
更新日期:2019-02-08 00:00:00
abstract::Integration of genome-wide association studies (GWAS) and expression quantitative trait loci (eQTL) studies is needed to improve our understanding of the biological mechanisms underlying GWAS hits, and our ability to identify therapeutic targets. Gene-level association methods such as PrediXcan can prioritize candidat...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007889
更新日期:2019-01-22 00:00:00
abstract::Variably expressive copy-number variants (CNVs) are characterized by extensive phenotypic heterogeneity of neuropsychiatric phenotypes. Approaches to identify single causative genes for these phenotypes within each CNV have not been successful. Here, we posit using multiple lines of evidence, including pathogenicity m...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007879
更新日期:2019-01-17 00:00:00
abstract::Genetic variants in genome-wide association studies (GWAS) are tested for disease association mostly using simple regression, one variant at a time. Standard approaches to improve power in detecting disease-associated SNPs use multiple regression with Bayesian variable selection in which a sparsity-enforcing prior on ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007856
更新日期:2018-12-31 00:00:00
abstract::Capsules allow bacteria to colonize novel environments, to withstand numerous stresses, and to resist antibiotics. Yet, even though genetic exchanges with other cells should be adaptive under such circumstances, it has been suggested that capsules lower the rates of homologous recombination and horizontal gene transfe...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007862
更新日期:2018-12-21 00:00:00
abstract::Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have metabolic disturbances including insulin resistance and dysregulation of glucose homeostasis. PCOS is diagnosed with two different sets of diagnostic...
journal_title:PLoS genetics
pub_type: 杂志文章,meta分析
doi:10.1371/journal.pgen.1007813
更新日期:2018-12-19 00:00:00
abstract::Drosophila bithorax complex (BX-C) is one of the best model systems for studying the role of boundaries (insulators) in gene regulation. Expression of three homeotic genes, Ubx, abd-A, and Abd-B, is orchestrated by nine parasegment-specific regulatory domains. These domains are flanked by boundary elements, which func...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007702
更新日期:2018-12-12 00:00:00
abstract::Domestic dog breeds exhibit remarkable morphological variations that result from centuries of artificial selection and breeding. Identifying the genetic changes that contribute to these variations could provide critical insights into the molecular basis of tissue and organismal morphogenesis. Bulldogs, French Bulldogs...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007850
更新日期:2018-12-06 00:00:00
abstract::Retinoblastoma (pRb) is a multifunctional regulator, which was likely present in the last common ancestor of all eukaryotes. The Arabidopsis pRb homolog RETINOBLASTOMA RELATED 1 (RBR1), similar to its animal counterparts, controls not only cell proliferation but is also implicated in developmental decisions, stress re...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007797
更新日期:2018-11-30 00:00:00
abstract::The human genome encodes thousands of long noncoding RNA (lncRNA) genes; the function of majority of them is poorly understood. Aberrant expression of a significant number of lncRNAs is observed in various diseases, including cancer. To gain insights into the role of lncRNAs in breast cancer progression, we performed ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007802
更新日期:2018-11-29 00:00:00
abstract::From genomic association studies, quantitative trait loci analysis, and epigenomic mapping, it is evident that significant efforts are necessary to define genetic-epigenetic interactions and understand their role in disease susceptibility and progression. For this reason, an analysis of the effects of genetic variatio...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007785
更新日期:2018-11-19 00:00:00
abstract::Elg1, the major subunit of a Replication Factor C-like complex, is critical to ensure genomic stability during DNA replication, and is implicated in controlling chromatin structure. We investigated the consequences of Elg1 loss for the dynamics of chromatin re-formation following DNA replication. Measurement of Okazak...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007783
更新日期:2018-11-12 00:00:00
abstract::Meiotic cytokinesis influences the fertility and ploidy of gametes. However, limited information is available on the genetic control of meiotic cytokinesis in plants. Here, we identified a rice mutant with low male fertility, defective callose in meiosis 1 (dcm1). The pollen grains of dcm1 are proved to be defective i...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007769
更新日期:2018-11-12 00:00:00
abstract::High-throughput genetic screens are powerful methods to identify genes linked to a given phenotype. The catalytic null mutant of the Cas9 RNA-guided nuclease (dCas9) can be conveniently used to silence genes of interest in a method also known as CRISPRi. Here, we report a genome-wide CRISPR-dCas9 screen using a starti...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007749
更新日期:2018-11-07 00:00:00
abstract::Development of a functional musculoskeletal system requires coordinated generation of muscles, bones, and tendons. However, how axial tendon cells (tenocytes) are generated during embryo development is still poorly understood. Here, we show that axial tenocytes arise from the sclerotome in zebrafish. In contrast to mo...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007775
更新日期:2018-11-02 00:00:00
abstract::Sleep contributes to cognitive functioning and is sufficient to alter brain morphology and function. However, mechanisms underlying sleep regulation remain poorly understood. In mammals, tumor necrosis factor-alpha (TNFα) is known to regulate sleep, and cytokine expression may represent an evolutionarily ancient mecha...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1007724
更新日期:2018-10-31 00:00:00