Robust demographic inference from genomic and SNP data.

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1004496.]. ...

journal_title：PLoS genetics

authors： Schwartze VU,Winter S,Shelest E,Marcet-Houben M,Horn F,Wehner S,Linde J,Valiante V,Sammeth M,Riege K,Nowrousian M,Kaerger K,Jacobsen ID,Marz M,Brakhage AA,Gabaldón T,Böcker S,Voigt K

更新日期：2016-12-05 00:00:00

abstract：:A large fraction of human genes are regulated by genetic variation near the transcribed sequence (cis-eQTL, expression quantitative trait locus), and many cis-eQTLs have implications for human disease. Less is known regarding the effects of genetic variation on expression of distant genes (trans-eQTLs) and their biolo...

journal_title：PLoS genetics

authors： Pierce BL,Tong L,Chen LS,Rahaman R,Argos M,Jasmine F,Roy S,Paul-Brutus R,Westra HJ,Franke L,Esko T,Zaman R,Islam T,Rahman M,Baron JA,Kibriya MG,Ahsan H

更新日期：2014-12-04 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

authors： Liu YJ,Janssens GE,McIntyre RL,Molenaars M,Kamble R,Gao AW,Jongejan A,Weeghel MV,MacInnes AW,Houtkooper RH

更新日期：2019-03-07 00:00:00

abstract：:Zeins, the predominent storage proteins in maize endosperm, are encoded by multiple genes and gene families. However, only a few transcriptional factors for zein gene regulation have been functionally characterized. In this study, a MADS-box protein, namely ZmMADS47, was identified as an Opaque2 (O2) interacting prote...

journal_title：PLoS genetics

authors： Qiao Z,Qi W,Wang Q,Feng Y,Yang Q,Zhang N,Wang S,Tang Y,Song R

更新日期：2016-04-14 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

authors： Garnai SJ,Brinkmeier ML,Emery B,Aleman TS,Pyle LC,Veleva-Rotse B,Sisk RA,Rozsa FW,Ozel AB,Li JZ,Moroi SE,Archer SM,Lin CM,Sheskey S,Wiinikka-Buesser L,Eadie J,Urquhart JE,Black GCM,Othman MI,Boehnke M,Sullivan SA

更新日期：2019-05-02 00:00:00

abstract：:Over half of all proteins are glycosylated, and alterations in glycosylation have been observed in numerous physiological and pathological processes. Attached glycans significantly affect protein function; but, contrary to polypeptides, they are not directly encoded by genes, and the complex processes that regulate th...

journal_title：PLoS genetics

authors： Lauc G,Essafi A,Huffman JE,Hayward C,Knežević A,Kattla JJ,Polašek O,Gornik O,Vitart V,Abrahams JL,Pučić M,Novokmet M,Redžić I,Campbell S,Wild SH,Borovečki F,Wang W,Kolčić I,Zgaga L,Gyllensten U,Wilson JF,Wright

更新日期：2010-12-23 00:00:00

abstract：:The mechanisms involved in the recognition of microbial pathogens and activation of the immune system have been extensively studied. However, the mechanisms involved in the recovery phase of an infection are incompletely characterized at both the cellular and physiological levels. Here, we establish a Caenorhabditis e...

journal_title：PLoS genetics

authors： Head B,Aballay A

更新日期：2014-10-23 00:00:00

abstract：:Dermal hyperpigmentation or Fibromelanosis (FM) is one of the few examples of skin pigmentation phenotypes in the chicken, where most other pigmentation variants influence feather color and patterning. The Silkie chicken is the most widespread and well-studied breed displaying this phenotype. The presence of the domin...

journal_title：PLoS genetics

authors： Dorshorst B,Molin AM,Rubin CJ,Johansson AM,Strömstedt L,Pham MH,Chen CF,Hallböök F,Ashwell C,Andersson L

更新日期：2011-12-01 00:00:00

abstract：:Synthetic biology aims at (re-)programming living cells like computers to perform new functions for a variety of applications. Initial work rested on transcription factors, but regulatory RNAs have recently gained much attention due to their high programmability. However, functional circuits mainly implemented with re...

journal_title：PLoS genetics

authors： Rosado A,Cordero T,Rodrigo G

更新日期：2018-07-19 00:00:00

abstract：:Bacterial diversification is often observed, but underlying mechanisms are difficult to disentangle and remain generally unknown. Moreover, controlled diversification experiments in ecologically relevant environments are lacking. We studied bacterial diversification in the mammalian gut, one of the most complex bacter...

journal_title：PLoS genetics

authors： De Paepe M,Gaboriau-Routhiau V,Rainteau D,Rakotobe S,Taddei F,Cerf-Bensussan N

更新日期：2011-06-01 00:00:00

abstract：:To understand the genetic mechanisms leading to phenotypic differentiation, it is important to identify genomic regions under selection. We scanned the genome of two chicken lines from a single trait selection experiment, where 50 generations of selection have resulted in a 9-fold difference in body weight. Analyses o...

journal_title：PLoS genetics

authors： Johansson AM,Pettersson ME,Siegel PB,Carlborg O

更新日期：2010-11-04 00:00:00

abstract：:A variety of human diseases arise from mutations that alter muscle contraction. Evolutionary conservation allows genetic studies in Drosophila melanogaster to be used to better understand these myopathies and suggest novel therapeutic strategies. Integrin-mediated adhesion is required to support muscle structure and f...

journal_title：PLoS genetics

authors： Pronovost SM,Beckerle MC,Kadrmas JL

更新日期：2013-03-01 00:00:00

abstract：:Aneuploidy refers to losses and/or gains of individual chromosomes from the normal chromosome set. The resulting gene dosage imbalance has a noticeable affect on the phenotype, as illustrated by aneuploid syndromes, including Down syndrome in humans, and by human solid tumor cells, which are highly aneuploid. Although...

journal_title：PLoS genetics

authors： Huettel B,Kreil DP,Matzke M,Matzke AJ

更新日期：2008-10-01 00:00:00

abstract：:Akt represents a nodal point between the Insulin receptor and TOR signaling, and its activation by phosphorylation controls cell proliferation, cell size, and metabolism. The activity of Akt must be carefully balanced, as increased Akt signaling is frequently associated with cancer and as insufficient Akt signaling is...

journal_title：PLoS genetics

authors： Kockel L,Kerr KS,Melnick M,Brückner K,Hebrok M,Perrimon N

更新日期：2010-06-17 00:00:00

abstract：:A primary justification for dedicating substantial amounts of research funding to large-scale cancer genomics projects of both somatic and germline DNA is that the biological insights will lead to new treatment targets and strategies for cancer therapy. While it is too early to judge the success of these projects in t...

journal_title：PLoS genetics

authors： Brennan P,Wild CP

更新日期：2015-11-05 00:00:00

abstract：:The evolution of metazoans from their choanoflagellate-like unicellular ancestor coincided with the acquisition of novel biological functions to support a multicellular lifestyle, and eventually, the unique cellular and physiological demands of differentiated cell types such as those forming the nervous, muscle and im...

journal_title：PLoS genetics

authors： Frédéric MY,Lundin VF,Whiteside MD,Cueva JG,Tu DK,Kang SY,Singh H,Baillie DL,Hutter H,Goodman MB,Brinkman FS,Leroux MR

更新日期：2013-01-01 00:00:00

abstract：:L1 retrotransposons have a prominent role in reshaping mammalian genomes. To replicate, the L1 ribonucleoprotein particle (RNP) first uses its endonuclease (EN) to nick the genomic DNA. The newly generated DNA end is subsequently used as a primer to initiate reverse transcription within the L1 RNA poly(A) tail, a proc...

journal_title：PLoS genetics

authors： Monot C,Kuciak M,Viollet S,Mir AA,Gabus C,Darlix JL,Cristofari G

更新日期：2013-05-01 00:00:00

abstract：:In Saccharomyces cerevisiae, the conserved phosphatase Cdc14 is required for the exit from mitosis. It is anchored on nucleolar chromatin by the Cfi1/Net1 protein until early anaphase, at which time it is released into the nucleoplasm. Two poorly understood, redundant pathways promote Cdc14 release, the FEAR (Cdc four...

journal_title：PLoS genetics

authors： Hwang WW,Madhani HD

更新日期：2009-08-01 00:00:00

abstract：:Bacteria can arrest their own growth and proliferation upon nutrient depletion and under various stressful conditions to ensure their survival. However, the molecular mechanisms responsible for suppressing growth and arresting the cell cycle under such conditions remain incompletely understood. Here, we identify post-...

journal_title：PLoS genetics

authors： Leslie DJ,Heinen C,Schramm FD,Thüring M,Aakre CD,Murray SM,Laub MT,Jonas K

更新日期：2015-07-02 00:00:00

abstract：:The secondary structure of a pre-mRNA influences a number of processing steps including alternative splicing. Since most splicing regulatory proteins bind to single-stranded RNA, the sequestration of RNA into double strands could prevent their binding. Here, we analyzed the secondary structure context of experimentall...

journal_title：PLoS genetics

authors： Hiller M,Zhang Z,Backofen R,Stamm S

更新日期：2007-11-01 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

authors： Vanderheyden WM,Goodman AG,Taylor RH,Frank MG,Van Dongen HPA,Gerstner JR

更新日期：2018-10-31 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

authors： Samal B,Chatterjee S

更新日期：2019-09-17 00:00:00

abstract：:Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an autosomal dominant disease characterized by potentially-blinding congenital optic nerve excavation and congenital kidney abnormalities. Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Although most mutatio...

journal_title：PLoS genetics

authors： Alur RP,Vijayasarathy C,Brown JD,Mehtani M,Onojafe IF,Sergeev YV,Boobalan E,Jones M,Tang K,Liu H,Xia CH,Gong X,Brooks BP

更新日期：2010-03-05 00:00:00

abstract：:Rheumatoid arthritis is a chronic inflammatory disease with a high prevalence and substantial socioeconomic burden. Despite intense research efforts, its aetiology and pathogenesis remain poorly understood. To identify novel genes and/or cellular pathways involved in the pathogenesis of the disease, we utilized a well...

journal_title：PLoS genetics

authors： Aidinis V,Carninci P,Armaka M,Witke W,Harokopos V,Pavelka N,Koczan D,Argyropoulos C,Thwin MM,Möller S,Waki K,Gopalakrishnakone P,Ricciardi-Castagnoli P,Thiesen HJ,Hayashizaki Y,Kollias G

更新日期：2005-10-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified chromosomal loci that affect risk of coronary heart disease (CHD) independent of classical risk factors. One such association signal has been identified at 6q23.2 in both Caucasians and East Asians. The lead CHD-associated polymorphism in this region, rs12190287, ...

journal_title：PLoS genetics

authors： Miller CL,Haas U,Diaz R,Leeper NJ,Kundu RK,Patlolla B,Assimes TL,Kaiser FJ,Perisic L,Hedin U,Maegdefessel L,Schunkert H,Erdmann J,Quertermous T,Sczakiel G

更新日期：2014-03-27 00:00:00

abstract：:DNA methylation is an evolutionarily conserved epigenetic modification that is critical for gene silencing and the maintenance of genome integrity. In Arabidopsis thaliana, the de novo DNA methyltransferase, domains rearranged methyltransferase 2 (DRM2), is targeted to specific genomic loci by 24 nt small interfering ...

journal_title：PLoS genetics

authors： Law JA,Vashisht AA,Wohlschlegel JA,Jacobsen SE

更新日期：2011-07-01 00:00:00

abstract：:Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*...

journal_title：PLoS genetics

authors： Simon M,Richard EM,Wang X,Shahzad M,Huang VH,Qaiser TA,Potluri P,Mahl SE,Davila A,Nazli S,Hancock S,Yu M,Gargus J,Chang R,Al-Sheqaih N,Newman WG,Abdenur J,Starr A,Hegde R,Dorn T,Busch A,Park E,Wu J,Schwenzer

更新日期：2015-03-25 00:00:00

abstract：:In addition to their protein coding function, exons can also serve as transcriptional enhancers. Mutations in these exonic-enhancers (eExons) could alter both protein function and transcription. However, the functional consequence of eExon mutations is not well known. Here, using massively parallel reporter assays, we...

journal_title：PLoS genetics

authors： Birnbaum RY,Patwardhan RP,Kim MJ,Findlay GM,Martin B,Zhao J,Bell RJ,Smith RP,Ku AA,Shendure J,Ahituv N

更新日期：2014-10-23 00:00:00

abstract：:The Yorkie/Yap transcriptional coactivator is a well-known regulator of cellular proliferation in both invertebrates and mammals. As a coactivator, Yorkie (Yki) lacks a DNA binding domain and must partner with sequence-specific DNA binding proteins in the nucleus to regulate gene expression; in Drosophila, the develop...

journal_title：PLoS genetics

authors： Slattery M,Voutev R,Ma L,Nègre N,White KP,Mann RS

更新日期：2013-01-01 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

authors： Jensen M,Girirajan S

更新日期：2019-01-17 00:00:00