Retinoic acid activates two pathways required for meiosis in mice.

abstract：:Down syndrome (DS), commonly caused by an extra copy of chromosome 21 (chr21), occurs in approximately one out of 700 live births. Precisely how an extra chr21 causes over 80 clinically defined phenotypes is not yet clear. Reduced representation bisulfite sequencing (RRBS) analysis at single base resolution revealed D...

journal_title：PLoS genetics

authors： Jin S,Lee YK,Lim YC,Zheng Z,Lin XM,Ng DP,Holbrook JD,Law HY,Kwek KY,Yeo GS,Ding C

更新日期：2013-06-01 00:00:00

abstract：:Dynamic activity of signaling pathways, such as Notch, is vital to achieve correct development and homeostasis. However, most studies assess output many hours or days after initiation of signaling, once the outcome has been consolidated. Here we analyze genome-wide changes in transcript levels, binding of the Notch pa...

journal_title：PLoS genetics

authors： Housden BE,Fu AQ,Krejci A,Bernard F,Fischer B,Tavaré S,Russell S,Bray SJ

更新日期：2013-01-01 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：:Short insertions, deletions (INDELs) and larger structural variants have been increasingly employed in genetic association studies, but few improvements over SNP-based association have been reported. In order to understand why this might be the case, we analysed two publicly available datasets and observed that 63% of...

journal_title：PLoS genetics

authors： Song B,Mott R,Gan X

更新日期：2018-10-16 00:00:00

abstract：:Synonymous mutations do not alter the specified amino acid but may alter the structure or function of an mRNA in ways that impact fitness. There are few examples in the literature, however, in which the effects of synonymous mutations on microbial growth rates have been measured, and even fewer for which the underlyin...

journal_title：PLoS genetics

authors： Kristofich J,Morgenthaler AB,Kinney WR,Ebmeier CC,Snyder DJ,Old WM,Cooper VS,Copley SD

更新日期：2018-08-27 00:00:00

abstract：:Successful reproduction is critical to pass genes to the next generation. Seminal proteins contribute to important reproductive processes that lead to fertilization in species ranging from insects to mammals. In Drosophila, the male's accessory gland is a source of seminal fluid proteins that affect the reproductive o...

journal_title：PLoS genetics

authors： Ram KR,Wolfner MF

更新日期：2007-12-01 00:00:00

abstract：:Plant resistance (R) proteins provide a robust surveillance system to defend against potential pathogens. Despite their importance in plant innate immunity, relatively few of the approximately 170 R proteins in Arabidopsis have well-characterized resistance specificity. In order to identify the R protein responsible f...

journal_title：PLoS genetics

authors： Lewis JD,Wu R,Guttman DS,Desveaux D

更新日期：2010-04-01 00:00:00

abstract：:Because of the stochastic way in which lineages sort during speciation, gene trees may differ in topology from each other and from species trees. Surprisingly, assuming that genetic lineages follow a coalescent model of within-species evolution, we find that for any species tree topology with five or more species, the...

journal_title：PLoS genetics

authors： Degnan JH,Rosenberg NA

更新日期：2006-05-01 00:00:00

abstract：:Protein homeostasis is critical for cell survival and functions during stress and is regulated at both RNA and protein levels. However, how the cell integrates RNA-processing programs with post-translational protein quality control systems is unknown. Transactive response DNA-binding protein (TARDBP/TDP-43) is an RNA-...

journal_title：PLoS genetics

authors： Zhang T,Baldie G,Periz G,Wang J

更新日期：2014-10-16 00:00:00

abstract：:Hereditary nasal parakeratosis (HNPK), an inherited monogenic autosomal recessive skin disorder, leads to crusts and fissures on the nasal planum of Labrador Retrievers. We performed a genome-wide association study (GWAS) using 13 HNPK cases and 23 controls. We obtained a single strong association signal on chromosome...

journal_title：PLoS genetics

authors： Jagannathan V,Bannoehr J,Plattet P,Hauswirth R,Drögemüller C,Drögemüller M,Wiener DJ,Doherr M,Owczarek-Lipska M,Galichet A,Welle MM,Tengvall K,Bergvall K,Lohi H,Rüfenacht S,Linek M,Paradis M,Müller EJ,Roosje P,Leeb

更新日期：2013-01-01 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

authors： Fujihira H,Masahara-Negishi Y,Tamura M,Huang C,Harada Y,Wakana S,Takakura D,Kawasaki N,Taniguchi N,Kondoh G,Yamashita T,Funakoshi Y,Suzuki T

更新日期：2017-04-20 00:00:00

abstract：:Genome-wide association studies have shown that pleiotropy is a common phenomenon that can potentially be exploited for enhanced detection of susceptibility loci. We propose heritability informed power optimization (HIPO) for conducting powerful pleiotropic analysis using summary-level association statistics. We find ...

journal_title：PLoS genetics

authors： Qi G,Chatterjee N

更新日期：2018-10-05 00:00:00

abstract：:Genome-wide association studies (GWAS) have transformed our understanding of the genetics of complex traits such as autoimmune diseases, but how risk variants contribute to pathogenesis remains largely unknown. Identifying genetic variants that affect gene expression (expression quantitative trait loci, or eQTLs) is c...

journal_title：PLoS genetics

authors： Peters JE,Lyons PA,Lee JC,Richard AC,Fortune MD,Newcombe PJ,Richardson S,Smith KG

更新日期：2016-03-25 00:00:00

abstract：:Genome-wide association studies (GWAS) have become increasingly common due to advances in technology and have permitted the identification of differences in single nucleotide polymorphism (SNP) alleles that are associated with diseases. However, while typical GWAS analysis techniques treat markers individually, comple...

journal_title：PLoS genetics

authors： Braun R,Buetow K

更新日期：2011-06-01 00:00:00

abstract：:Hormone-dependent activation of enhancers includes histone hyperacetylation and mediator recruitment. Histone hyperacetylation is mostly explained by a bimodal switch model, where histone deacetylases (HDACs) disassociate from chromatin, and histone acetyl transferases (HATs) are recruited. This model builds on decade...

journal_title：PLoS genetics

authors： Præstholm SM,Siersbæk MS,Nielsen R,Zhu X,Hollenberg AN,Cheng SY,Grøntved L

更新日期：2020-05-26 00:00:00

abstract：:Generally, the second messenger bis-(3'-5')-cyclic dimeric GMP (c-di-GMP) regulates the switch between motile and sessile lifestyles in bacteria. Here, we show that c-di-GMP is an essential regulator of multicellular development in the social bacterium Myxococcus xanthus. In response to starvation, M. xanthus initiate...

journal_title：PLoS genetics

authors： Skotnicka D,Smaldone GT,Petters T,Trampari E,Liang J,Kaever V,Malone JG,Singer M,Søgaard-Andersen L

更新日期：2016-05-23 00:00:00

abstract：:RAD6 is known to suppress duplication-mediated gross chromosomal rearrangements (GCRs) but not single-copy sequence mediated GCRs. Here, we found that the RAD6- and RAD18-dependent post-replication repair (PRR) and the RAD5-, MMS2-, UBC13-dependent error-free PRR branch acted in concert with the replication stress che...

journal_title：PLoS genetics

authors： Putnam CD,Hayes TK,Kolodner RD

更新日期：2010-05-06 00:00:00

abstract：:Homology-dependent repair of DNA double-strand breaks (DSBs) by gene conversion involves short tracts of DNA synthesis and limited loss of heterozygosity (LOH). For DSBs that present only one end, repair occurs by invasion into a homologous sequence followed by replication to the end of the chromosome resulting in ext...

journal_title：PLoS genetics

authors： Marrero VA,Symington LS

更新日期：2010-07-08 00:00:00

abstract：:New systems genetics approaches are needed to rapidly identify host genes and genetic networks that regulate complex disease outcomes. Using genetically diverse animals from incipient lines of the Collaborative Cross mouse panel, we demonstrate a greatly expanded range of phenotypes relative to classical mouse models ...

journal_title：PLoS genetics

authors： Gralinski LE,Ferris MT,Aylor DL,Whitmore AC,Green R,Frieman MB,Deming D,Menachery VD,Miller DR,Buus RJ,Bell TA,Churchill GA,Threadgill DW,Katze MG,McMillan L,Valdar W,Heise MT,Pardo-Manuel de Villena F,Baric RS

更新日期：2015-10-09 00:00:00

abstract：:Epigenetic gene silencing plays a critical role in regulating gene expression and contributes to organismal development and cell fate acquisition in eukaryotes. In fission yeast, Schizosaccharomyces pombe, heterochromatin-associated gene silencing is known to be mediated by RNA processing pathways including RNA interf...

journal_title：PLoS genetics

authors： Tucker JF,Ohle C,Schermann G,Bendrin K,Zhang W,Fischer T,Zhang K

更新日期：2016-02-18 00:00:00

abstract：:Understanding the molecular basis for phenotypic differences between humans and other primates remains an outstanding challenge. Mutations in non-coding regulatory DNA that alter gene expression have been hypothesized as a key driver of these phenotypic differences. This has been supported by differential gene express...

journal_title：PLoS genetics

authors： Shibata Y,Sheffield NC,Fedrigo O,Babbitt CC,Wortham M,Tewari AK,London D,Song L,Lee BK,Iyer VR,Parker SC,Margulies EH,Wray GA,Furey TS,Crawford GE

更新日期：2012-06-01 00:00:00

abstract：:The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similari...

journal_title：PLoS genetics

authors： Morgan NV,Morris MR,Cangul H,Gleeson D,Straatman-Iwanowska A,Davies N,Keenan S,Pasha S,Rahman F,Gentle D,Vreeswijk MP,Devilee P,Knowles MA,Ceylaner S,Trembath RC,Dalence C,Kismet E,Köseoğlu V,Rossbach HC,Gissen P,

更新日期：2010-02-05 00:00:00

abstract：:Organisms perceive changes in their dietary environment and enact a suite of behavioral and metabolic adaptations that can impact motivational behavior, disease resistance, and longevity. However, the precise nature and mechanism of these dietary responses is not known. We have uncovered a novel link between dietary f...

journal_title：PLoS genetics

authors： Linford NJ,Chan TP,Pletcher SD

更新日期：2012-01-01 00:00:00

abstract：:Quality control (QC) is a critical step in large-scale studies of genetic variation. While, on average, high-throughput single nucleotide polymorphism (SNP) genotyping assays are now very accurate, the errors that remain tend to cluster into a small percentage of "problem" SNPs, which exhibit unusually high error rate...

journal_title：PLoS genetics

authors： Scheet P,Stephens M

更新日期：2008-08-01 00:00:00

abstract：:The evolution of insecticide resistance is a global constraint to agricultural production. Spinosad is a new, low-environmental-risk insecticide that primarily targets nicotinic acetylcholine receptors (nAChR) and is effective against a wide range of pest species. However, after only a few years of application, field ...

journal_title：PLoS genetics

authors： Baxter SW,Chen M,Dawson A,Zhao JZ,Vogel H,Shelton AM,Heckel DG,Jiggins CD

更新日期：2010-01-01 00:00:00

abstract：:Lifespan can be extended by reduction of dietary intake. This practice is referred to as dietary restriction (DR), and extension of lifespan by DR is evolutionarily conserved in taxonomically diverse organisms including yeast, invertebrates, and mammals. Although these two often-stated facts carry the implication that...

journal_title：PLoS genetics

authors： Piper MD,Partridge L

更新日期：2007-04-27 00:00:00

abstract：:AMP-activated protein kinase (AMPK) is an evolutionarily conserved master regulator of metabolism and a therapeutic target in type 2 diabetes. As an energy sensor, AMPK activity is responsive to both metabolic inputs, for instance the ratio of AMP to ATP, and numerous hormonal cues. As in mammals, each of two genes, a...

journal_title：PLoS genetics

authors： Cunningham KA,Bouagnon AD,Barros AG,Lin L,Malard L,Romano-Silva MA,Ashrafi K

更新日期：2014-06-12 00:00:00

abstract：:As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at https://ibd....

journal_title：PLoS genetics

authors： Rivas MA,Avila BE,Koskela J,Huang H,Stevens C,Pirinen M,Haritunians T,Neale BM,Kurki M,Ganna A,Graham D,Glaser B,Peter I,Atzmon G,Barzilai N,Levine AP,Schiff E,Pontikos N,Weisburd B,Lek M,Karczewski KJ,Bloom J,

更新日期：2018-05-24 00:00:00

abstract：:In a previous study, we showed that centromere repositioning, that is the shift along the chromosome of the centromeric function without DNA sequence rearrangement, has occurred frequently during the evolution of the genus Equus. In this work, the analysis of the chromosomal distribution of satellite tandem repeats in...

journal_title：PLoS genetics

authors： Piras FM,Nergadze SG,Magnani E,Bertoni L,Attolini C,Khoriauli L,Raimondi E,Giulotto E

更新日期：2010-02-12 00:00:00

abstract：:MicroRNAs (miRNAs) are small, non-coding RNAs that play essential roles in plant growth, development, and stress response. We conducted a genome-wide survey of maize miRNA genes, characterizing their structure, expression, and evolution. Computational approaches based on homology and secondary structure modeling ident...

journal_title：PLoS genetics

authors： Zhang L,Chia JM,Kumari S,Stein JC,Liu Z,Narechania A,Maher CA,Guill K,McMullen MD,Ware D

更新日期：2009-11-01 00:00:00