Bayesian multivariate reanalysis of large genetic studies identifies many new associations.

abstract：:Recent genome-wide meta-analyses identified 157 loci associated with cross-sectional lipid traits. Here we tested whether these loci associate (singly and in trait-specific genetic risk scores [GRS]) with longitudinal changes in total cholesterol (TC) and triglyceride (TG) levels in a population-based prospective coho...

journal_title：PLoS genetics

authors： Varga TV,Sonestedt E,Shungin D,Koivula RW,Hallmans G,Escher SA,Barroso I,Nilsson P,Melander O,Orho-Melander M,Renström F,Franks PW

更新日期：2014-06-12 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：: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

authors： Fernandes CG,Martins D,Hernandez G,Sousa AL,Freitas C,Tranfield EM,Cordeiro TN,Serrano M,Moran CP Jr,Henriques AO

更新日期：2019-04-08 00:00:00

abstract：:Leucine-rich repeat kinase 2 (LRRK2) is a key molecule in the pathogenesis of familial and idiopathic Parkinson's disease (PD). We have identified two novel LRRK2-associated proteins, a HECT-type ubiquitin ligase, HERC2, and an adaptor-like protein with six repeated Neuralized domains, NEURL4. LRRK2 binds to NEURL4 an...

journal_title：PLoS genetics

authors： Imai Y,Kobayashi Y,Inoshita T,Meng H,Arano T,Uemura K,Asano T,Yoshimi K,Zhang CL,Matsumoto G,Ohtsuka T,Kageyama R,Kiyonari H,Shioi G,Nukina N,Hattori N,Takahashi R

更新日期：2015-09-10 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

authors： van der Does HC,Fokkens L,Yang A,Schmidt SM,Langereis L,Lukasiewicz JM,Hughes TR,Rep M

更新日期：2016-11-17 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：:Smc5/6, a member of the conserved SMC family of complexes, is essential for growth in most organisms. Its exact functions in a mitotic cell cycle are controversial, as chronic Smc5/6 loss-of-function alleles produce varying phenotypes. To circumvent this issue, we acutely depleted Smc5/6 in budding yeast and determine...

journal_title：PLoS genetics

authors： Peng XP,Lim S,Li S,Marjavaara L,Chabes A,Zhao X

更新日期：2018-01-23 00:00:00

abstract：:Cellulolytic fungi have evolved a complex regulatory network to maintain the precise balance of nutrients required for growth and hydrolytic enzyme production. When fungi are exposed to cellulose, the transcript levels of cellulase genes rapidly increase and then decline. However, the mechanisms underlying this bell-s...

journal_title：PLoS genetics

authors： Lin L,Wang S,Li X,He Q,Benz JP,Tian C

更新日期：2019-11-25 00:00:00

abstract：:Anaplasma phagocytophilum is an emerging pathogen that causes human granulocytic anaplasmosis. Infection with this zoonotic pathogen affects cell function in both vertebrate host and the tick vector, Ixodes scapularis. Global tissue-specific response and apoptosis signaling pathways were characterized in I. scapularis...

journal_title：PLoS genetics

authors： Ayllón N,Villar M,Galindo RC,Kocan KM,Šíma R,López JA,Vázquez J,Alberdi P,Cabezas-Cruz A,Kopáček P,de la Fuente J

更新日期：2015-03-27 00:00:00

abstract：:Insertions and deletions (indels) are a major source of genetic variation within species and may result in functional changes to coding or regulatory sequences. In this study we report that an indel polymorphism in the 3' untranslated region (UTR) of the metallothionein gene MtnA is associated with gene expression var...

journal_title：PLoS genetics

authors： Catalán A,Glaser-Schmitt A,Argyridou E,Duchen P,Parsch J

更新日期：2016-04-27 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified over 40 loci that affect risk of coronary artery disease (CAD) and the causal mechanisms at the majority of loci are unknown. Recent studies have suggested that many causal GWAS variants influence disease through altered transcriptional regulation in disease-relev...

journal_title：PLoS genetics

authors： Reschen ME,Gaulton KJ,Lin D,Soilleux EJ,Morris AJ,Smyth SS,O'Callaghan CA

更新日期：2015-04-02 00:00:00

abstract：:Class-switch recombination (CSR), induced by activation-induced cytidine deaminase (AID), can be divided into two phases: DNA cleavage of the switch (S) regions and the joining of the cleaved ends of the different S regions. Here, we show that the DSIF complex (Spt4 and Spt5), a transcription elongation factor, is req...

journal_title：PLoS genetics

authors： Stanlie A,Begum NA,Akiyama H,Honjo T

更新日期：2012-01-01 00:00:00

abstract：:The number and distribution of crossover events are tightly regulated at prophase of meiosis I. The resolution of Holliday junctions by structure-specific endonucleases, including MUS-81, SLX-1, XPF-1 and GEN-1, is one of the main mechanisms proposed for crossover formation. However, how these nucleases coordinately r...

journal_title：PLoS genetics

authors： Saito TT,Lui DY,Kim HM,Meyer K,Colaiácovo MP

更新日期：2013-01-01 00:00:00

abstract：:Parkinson's disease (PD) is a neurodegenerative disorder characterized by the loss of dopamine (DA) neurons in the substantia nigra pars compacta (SNc). Rare genetic mutations in genes such as Parkin, Pink1, DJ-1, α-synuclein, LRRK2 and GBA are found to be responsible for the disease in about 15% of the cases. A key u...

journal_title：PLoS genetics

authors： Giguère N,Delignat-Lavaud B,Herborg F,Voisin A,Li Y,Jacquemet V,Anand-Srivastava M,Gether U,Giros B,Trudeau LÉ

更新日期：2019-08-26 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

authors： Quigley IK,Kintner C

更新日期：2017-01-19 00:00:00

abstract：:Homolog pairing, which plays a critical role in meiosis, poses a potential risk if it occurs in inappropriate tissues or between nonallelic sites, as it can lead to changes in gene expression, chromosome entanglements, and loss-of-heterozygosity due to mitotic recombination. This is particularly true in Drosophila, wh...

journal_title：PLoS genetics

authors： Joyce EF,Apostolopoulos N,Beliveau BJ,Wu CT

更新日期：2013-01-01 00:00:00

abstract：:Recent studies of the HapMap lymphoblastoid cell lines have identified large numbers of quantitative trait loci for gene expression (eQTLs). Reanalyzing these data using a novel Bayesian hierarchical model, we were able to create a surprisingly high-resolution map of the typical locations of sites that affect mRNA lev...

journal_title：PLoS genetics

authors： Veyrieras JB,Kudaravalli S,Kim SY,Dermitzakis ET,Gilad Y,Stephens M,Pritchard JK

更新日期：2008-10-01 00:00:00

abstract：:Size control is essential for all proliferating cells, and is thought to be regulated by checkpoints that couple cell size to cell cycle progression. The aberrant cell-size phenotypes caused by mutations in the retinoblastoma (RB) tumor suppressor pathway are consistent with a role in size checkpoint control, but indi...

journal_title：PLoS genetics

authors： Fang SC,de los Reyes C,Umen JG

更新日期：2006-10-13 00:00:00

abstract：:The mitochondrial beta-oxidation system is one of the central metabolic pathways of energy metabolism in mammals. Enzyme defects in this pathway cause fatty acid oxidation disorders. To elucidate the role of 2,4-dienoyl-CoA reductase (DECR) as an auxiliary enzyme in the mitochondrial beta-oxidation of unsaturated fatt...

journal_title：PLoS genetics

authors： Miinalainen IJ,Schmitz W,Huotari A,Autio KJ,Soininen R,Ver Loren van Themaat E,Baes M,Herzig KH,Conzelmann E,Hiltunen JK

更新日期：2009-07-01 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：:Genetic studies have identified substantial non-African admixture in the Horn of Africa (HOA). In the most recent genomic studies, this non-African ancestry has been attributed to admixture with Middle Eastern populations during the last few thousand years. However, mitochondrial and Y chromosome data are suggestive o...

journal_title：PLoS genetics

authors： Hodgson JA,Mulligan CJ,Al-Meeri A,Raaum RL

更新日期：2014-06-12 00:00:00

abstract：:Nonreplicating type I uracil auxotrophic mutants of Toxoplasma gondii possess a potent ability to activate therapeutic immunity to established solid tumors by reversing immune suppression in the tumor microenvironment. Here we engineered targeted deletions of parasite secreted effector proteins using a genetically tra...

journal_title：PLoS genetics

authors： Fox BA,Sanders KL,Rommereim LM,Guevara RB,Bzik DJ

更新日期：2016-07-22 00:00:00

abstract：:Plant microRNAs (miRNAs) are critical regulators of gene expression, however little attention has been given to the principles governing miRNA silencing efficacy. Here, we utilize the highly conserved Arabidopsis miR159-MYB33/MYB65 regulatory module to explore these principles. Firstly, we show that perfect central co...

journal_title：PLoS genetics

authors： Li J,Reichel M,Millar AA

更新日期：2014-03-13 00:00:00

abstract：:Wnt signaling regulates primary body axis formation across the Metazoa, with high Wnt signaling specifying posterior identity. Whether a common Wnt-driven transcriptional program accomplishes this broad role is poorly understood. We identified genes acutely affected after Wnt signaling inhibition in the posterior of t...

journal_title：PLoS genetics

authors： Tewari AG,Owen JH,Petersen CP,Wagner DE,Reddien PW

更新日期：2019-10-18 00:00:00

abstract：:Curly, described almost a century ago, is one of the most frequently used markers in Drosophila genetics. Despite this the molecular identity of Curly has remained obscure. Here we show that Curly mutations arise in the gene dual oxidase (duox), which encodes a reactive oxygen species (ROS) generating NADPH oxidase. U...

journal_title：PLoS genetics

authors： Hurd TR,Liang FX,Lehmann R

更新日期：2015-11-20 00:00:00

abstract：:In humans, the absence or irreversible loss of hair cells, the sensory mechanoreceptors in the cochlea, accounts for a large majority of acquired and congenital hearing disorders. In the auditory and vestibular neuroepithelia of the inner ear, hair cells are accompanied by another cell type called supporting cells. Th...

journal_title：PLoS genetics

authors： Behra M,Bradsher J,Sougrat R,Gallardo V,Allende ML,Burgess SM

更新日期：2009-04-01 00:00:00

abstract：:Krüppel-associated box domain-zinc finger proteins (KRAB-ZFPs) are tetrapod-specific transcriptional repressors encoded in the hundreds by the human genome. In order to explore their as yet ill-defined impact on gene expression, we developed an ectopic repressor assay, allowing the study of KRAB-mediated transcription...

journal_title：PLoS genetics

authors： Groner AC,Meylan S,Ciuffi A,Zangger N,Ambrosini G,Dénervaud N,Bucher P,Trono D

更新日期：2010-03-05 00:00:00

abstract：:The bacterium Neisseria meningitidis is commonly found harmlessly colonising the mucosal surfaces of the human nasopharynx. Occasionally strains can invade host tissues causing septicaemia and meningitis, making the bacterium a major cause of morbidity and mortality in both the developed and developing world. The spec...

journal_title：PLoS genetics

authors： Bentley SD,Vernikos GS,Snyder LA,Churcher C,Arrowsmith C,Chillingworth T,Cronin A,Davis PH,Holroyd NE,Jagels K,Maddison M,Moule S,Rabbinowitsch E,Sharp S,Unwin L,Whitehead S,Quail MA,Achtman M,Barrell B,Saunders NJ

更新日期：2007-02-16 00:00:00

abstract：:The use of modern molecular biology tools in deciphering the perturbed biochemistry and physiology underlying the obese state has proven invaluable. Identifying the hypothalamic leptin/melanocortin pathway as critical in many cases of monogenic obesity has permitted targeted, hypothesis-driven experiments to be perfor...

journal_title：PLoS genetics

authors： Mutch DM,Clément K

更新日期：2006-12-29 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