Reverse GWAS: Using genetics to identify and model phenotypic subtypes.

abstract：:Traditional Chinese medicine (TCM) has been practiced for thousands of years, but only within the last few decades has its use become more widespread outside of Asia. Concerns continue to be raised about the efficacy, legality, and safety of many popular complementary alternative medicines, including TCMs. Ingredients...

journal_title：PLoS genetics

authors： Coghlan ML,Haile J,Houston J,Murray DC,White NE,Moolhuijzen P,Bellgard MI,Bunce M

更新日期：2012-01-01 00:00:00

abstract：:The phenotype of the spontaneous mutant mouse hop-sterile (hop) is characterized by a hopping gait, polydactyly, hydrocephalus, and male sterility. Previous analyses of the hop mouse revealed a deficiency of inner dynein arms in motile cilia and a lack of sperm flagella, potentially accounting for the hydrocephalus an...

journal_title：PLoS genetics

authors： Swiderski RE,Nakano Y,Mullins RF,Seo S,Bánfi B

更新日期：2014-10-23 00:00:00

abstract：:Promoters are structurally and functionally diverse gene regulatory regions. The presence or absence of sequence motifs and the spacing between the motifs defines the properties of promoters. Recent alternative promoter usage analyses in Drosophila melanogaster revealed that transposable elements significantly contrib...

journal_title：PLoS genetics

authors： Merenciano M,Ullastres A,de Cara MA,Barrón MG,González J

更新日期：2016-08-12 00:00:00

abstract：:Pathological aggregates of phosphorylated TDP-43 characterize amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD-TDP), two devastating groups of neurodegenerative disease. Kinase hyperactivity may be a consistent feature of ALS and FTLD-TDP, as phosphorylated TDP-43 is not observed in the ...

journal_title：PLoS genetics

authors： Liachko NF,McMillan PJ,Strovas TJ,Loomis E,Greenup L,Murrell JR,Ghetti B,Raskind MA,Montine TJ,Bird TD,Leverenz JB,Kraemer BC

更新日期：2014-12-04 00:00:00

abstract：:With multiple genome-wide association studies (GWAS) performed across autoimmune diseases, there is a great opportunity to study the homogeneity of genetic architectures across autoimmune disease. Previous approaches have been limited in the scope of their analysis and have failed to properly incorporate the direction...

journal_title：PLoS genetics

authors： Sirota M,Schaub MA,Batzoglou S,Robinson WH,Butte AJ

更新日期：2009-12-01 00:00:00

abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in mitochondrial DNA (mtDNA) copy number in one or more tissues. In mos...

journal_title：PLoS genetics

authors： González-Vioque E,Torres-Torronteras J,Andreu AL,Martí R

更新日期：2011-03-01 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

authors： Chen CH,He CW,Liao CP,Pan CL

更新日期：2017-04-06 00:00:00

abstract：:Mimivirus and Megavirus are the best characterized representatives of an expanding new family of giant viruses infecting Acanthamoeba. Their most distinctive features, megabase-sized genomes carried in particles of size comparable to that of small bacteria, fill the gap between the viral and cellular worlds. These gia...

journal_title：PLoS genetics

authors： Jeudy S,Abergel C,Claverie JM,Legendre M

更新日期：2012-01-01 00:00:00

abstract：:How do adapting populations navigate the tensions between the costs of gene expression and the benefits of gene products to optimize the levels of many genes at once? Here we combined independently-arising beneficial mutations that altered enzyme levels in the central metabolism of Methylobacterium extorquens to uncov...

journal_title：PLoS genetics

authors： Chou HH,Delaney NF,Draghi JA,Marx CJ

更新日期：2014-02-27 00:00:00

abstract：:Transcript elongation by RNA polymerase II (RNAPII) is accompanied by conserved patterns of histone modification. Whereas histone modifications have established roles in transcription initiation, their functions during elongation are not understood. Mono-ubiquitylation of histone H2B (H2Bub1) plays a key role in coord...

journal_title：PLoS genetics

authors： Sansó M,Lee KM,Viladevall L,Jacques PÉ,Pagé V,Nagy S,Racine A,St Amour CV,Zhang C,Shokat KM,Schwer B,Robert F,Fisher RP,Tanny JC

更新日期：2012-01-01 00:00:00

abstract：:A novel result of the current research is the development and implementation of a unique functional phylogenomic approach that explores the genomic origins of seed plant diversification. We first use 22,833 sets of orthologs from the nuclear genomes of 101 genera across land plants to reconstruct their phylogenetic re...

journal_title：PLoS genetics

authors： Lee EK,Cibrian-Jaramillo A,Kolokotronis SO,Katari MS,Stamatakis A,Ott M,Chiu JC,Little DP,Stevenson DW,McCombie WR,Martienssen RA,Coruzzi G,Desalle R

更新日期：2011-12-01 00:00:00

abstract：:Histidine kinase QseE and response regulator QseF compose a two-component system in Enterobacteriaceae. In Escherichia coli K-12 QseF activates transcription of glmY and of rpoE from Sigma 54-dependent promoters by binding to upstream activating sequences. Small RNA GlmY and RpoE (Sigma 24) are important regulators of...

journal_title：PLoS genetics

authors： Göpel Y,Görke B

更新日期：2018-07-24 00:00:00

abstract：:As a consequence of the accumulation of insertion events over evolutionary time, mobile elements now comprise nearly half of the human genome. The Alu, L1, and SVA mobile element families are still duplicating, generating variation between individual genomes. Mobile element insertions (MEI) have been identified as cau...

journal_title：PLoS genetics

authors： Stewart C,Kural D,Strömberg MP,Walker JA,Konkel MK,Stütz AM,Urban AE,Grubert F,Lam HY,Lee WP,Busby M,Indap AR,Garrison E,Huff C,Xing J,Snyder MP,Jorde LB,Batzer MA,Korbel JO,Marth GT,1000 Genomes Project.

更新日期：2011-08-01 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

authors： Camargo-Sosa K,Colanesi S,Müller J,Schulte-Merker S,Stemple D,Patton EE,Kelsh RN

更新日期：2019-02-27 00:00:00

abstract：:Genetic surveillance of malaria parasites supports malaria control programmes, treatment guidelines and elimination strategies. Surveillance studies often pose questions about malaria parasite ancestry (e.g. how antimalarial resistance has spread) and employ statistical methods that characterise parasite population st...

journal_title：PLoS genetics

authors： Watson JA,Taylor AR,Ashley EA,Dondorp A,Buckee CO,White NJ,Holmes CC

更新日期：2020-10-09 00:00:00

abstract：:Genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants associated with various phenotypes, but together they explain only a fraction of heritability, suggesting many variants have yet to be discovered. Recently it has been recognized that incorporating functional info...

journal_title：PLoS genetics

authors： Dong X,Su YR,Barfield R,Bien SA,He Q,Harrison TA,Huyghe JR,Keku TO,Lindor NM,Schafmayer C,Chan AT,Gruber SB,Jenkins MA,Kooperberg C,Peters U,Hsu L

更新日期：2020-08-24 00:00:00

abstract：:The origin and evolution of new microRNAs (miRNAs) is important because they can impact the transcriptome broadly. As miRNAs can potentially emerge constantly and rapidly, their rates of birth and evolution have been extensively debated. However, most new miRNAs identified appear not to be biologically significant. Af...

journal_title：PLoS genetics

authors： Lyu Y,Shen Y,Li H,Chen Y,Guo L,Zhao Y,Hungate E,Shi S,Wu CI,Tang T

更新日期：2014-01-01 00:00:00

abstract：:The modification of transcriptional regulation has become increasingly appreciated as a major contributor to morphological evolution. However, the role of negative-acting control elements (e.g. silencers) in generating morphological diversity has been generally overlooked relative to positive-acting "enhancer" element...

journal_title：PLoS genetics

authors： Johnson WC,Ordway AJ,Watada M,Pruitt JN,Williams TM,Rebeiz M

更新日期：2015-06-26 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

authors： Obuchowski I,Piróg A,Stolarska M,Tomiczek B,Liberek K

更新日期：2019-10-25 00:00:00

abstract：:Candida albicans is a normal resident of the gastrointestinal tract and also the most prevalent fungal pathogen of humans. It last shared a common ancestor with the model yeast Saccharomyces cerevisiae over 300 million years ago. We describe a collection of 143 genetically matched strains of C. albicans, each of which...

journal_title：PLoS genetics

authors： Homann OR,Dea J,Noble SM,Johnson AD

更新日期：2009-12-01 00:00:00

abstract：:Centromere sequences are not conserved between species, and there is compelling evidence for epigenetic regulation of centromere identity, with location being dictated by the presence of chromatin containing the histone H3 variant CENP-A. Paradoxically, in most organisms CENP-A chromatin generally occurs on particular...

journal_title：PLoS genetics

authors： Catania S,Pidoux AL,Allshire RC

更新日期：2015-03-04 00:00:00

abstract：:Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.(Asn641Tyr) substitution, ha...

journal_title：PLoS genetics

authors： Fasham J,Leslie JS,Harrison JW,Deline J,Williams KB,Kuhl A,Scott Schwoerer J,Cross HE,Crosby AH,Baple EL

更新日期：2020-11-20 00:00:00

abstract：:Rhizobial infection of legume root hairs requires a rearrangement of the actin cytoskeleton to enable the establishment of plant-made infection structures called infection threads. In the SCAR/WAVE (Suppressor of cAMP receptor defect/WASP family verpolin homologous protein) actin regulatory complex, the conserved N-te...

journal_title：PLoS genetics

authors： Qiu L,Lin JS,Xu J,Sato S,Parniske M,Wang TL,Downie JA,Xie F

更新日期：2015-10-30 00:00:00

abstract：:Evolutionary forces that shape regulatory networks remain poorly understood. In mammals, the Rb pathway is a classic example of species-specific gene regulation, as a germline mutation in one Rb allele promotes retinoblastoma in humans, but not in mice. Here we show that p53 transactivates the Retinoblastoma-like 2 (R...

journal_title：PLoS genetics

authors： Simeonova I,Lejour V,Bardot B,Bouarich-Bourimi R,Morin A,Fang M,Charbonnier L,Toledo F

更新日期：2012-06-01 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

authors： Sahu A,Ghosh R,Deshpande G,Prasad M

更新日期：2017-01-23 00:00:00

abstract：:Complete metamorphosis (Holometaboly) is a key innovation that underlies the spectacular success of holometabolous insects. Phylogenetic analyses indicate that Holometabola form a monophyletic group that evolved from ancestors exhibiting hemimetabolous development (Hemimetaboly). However, the nature of the changes und...

journal_title：PLoS genetics

authors： Ureña E,Chafino S,Manjón C,Franch-Marro X,Martín D

更新日期：2016-05-02 00:00:00

abstract：:DNA methylation is an ancient molecular modification found in most eukaryotes. In plants, DNA methylation is not only critical for transcriptionally silencing transposons, but can also affect phenotype by altering expression of protein coding genes. The extent of its contribution to phenotypic diversity over evolution...

journal_title：PLoS genetics

authors： Seymour DK,Koenig D,Hagmann J,Becker C,Weigel D

更新日期：2014-11-13 00:00:00

abstract：:Arthrobacter sp. strains are among the most frequently isolated, indigenous, aerobic bacterial genera found in soils. Member of the genus are metabolically and ecologically diverse and have the ability to survive in environmentally harsh conditions for extended periods of time. The genome of Arthrobacter aurescens str...

journal_title：PLoS genetics

authors： Mongodin EF,Shapir N,Daugherty SC,DeBoy RT,Emerson JB,Shvartzbeyn A,Radune D,Vamathevan J,Riggs F,Grinberg V,Khouri H,Wackett LP,Nelson KE,Sadowsky MJ

更新日期：2006-12-01 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1006396.]. ...

journal_title：PLoS genetics

authors： Hibshman JD,Hung A,Baugh LR

更新日期：2018-08-30 00:00:00

abstract：:One of the most powerful techniques for studying the function of a gene is to disrupt the expression of that gene using genetic engineering strategies such as targeted recombination or viral integration of gene trap cassettes. The tremendous utility of these tools was recognized this year with the awarding of the Nobe...

journal_title：PLoS genetics

authors： Osokine I,Hsu R,Loeb GB,McManus MT

更新日期：2008-02-01 00:00:00