An interaction-based model for neuropsychiatric features of copy-number variants.

abstract：:Fanconi Anemia (FA) is a rare autosomal recessive disorder characterized by hypersensitivity to inter-strand crosslinks (ICLs). FANCD2, a central factor of the FA pathway, is essential for the repair of double strand breaks (DSBs) generated during fork collapse at ICLs. While lesions different from ICLs can also trigg...

journal_title：PLoS genetics

authors： Federico MB,Vallerga MB,Radl A,Paviolo NS,Bocco JL,Di Giorgio M,Soria G,Gottifredi V

更新日期：2016-01-14 00:00:00

abstract：:Structural features of genomes, including the three-dimensional arrangement of DNA in the nucleus, are increasingly seen as key contributors to the regulation of gene expression. However, studies on how genome structure and nuclear organisation influence transcription have so far been limited to a handful of model spe...

journal_title：PLoS genetics

authors： Winter DJ,Ganley ARD,Young CA,Liachko I,Schardl CL,Dupont PY,Berry D,Ram A,Scott B,Cox MP

更新日期：2018-10-24 00:00:00

abstract：:Prostate cancer incidence is increasing in younger men. We investigated whether men diagnosed with Gleason 7 (3+4) T2 prostate cancer at younger ages (≤ 45 years, young cohort) had different mRNA and miRNA expression profiles than men diagnosed at older ages (71-74 years, older cohort). We identified differentially ex...

journal_title：PLoS genetics

authors： Ding Y,Wu H,Warden C,Steele L,Liu X,Iterson MV,Wu X,Nelson R,Liu Z,Yuan YC,Neuhausen SL

更新日期：2016-12-27 00:00:00

abstract：:Anti-tumor necrosis factor alpha (anti-TNF) biologic therapy is a widely used treatment for rheumatoid arthritis (RA). It is unknown why some RA patients fail to respond adequately to anti-TNF therapy, which limits the development of clinical biomarkers to predict response or new drugs to target refractory cases. To u...

journal_title：PLoS genetics

authors： Cui J,Stahl EA,Saevarsdottir S,Miceli C,Diogo D,Trynka G,Raj T,Mirkov MU,Canhao H,Ikari K,Terao C,Okada Y,Wedrén S,Askling J,Yamanaka H,Momohara S,Taniguchi A,Ohmura K,Matsuda F,Mimori T,Gupta N,Kuchroo M,Morg

更新日期：2013-03-01 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1008367.]. ...

journal_title：PLoS genetics

authors： Baker RL,Leong WF,Brock MT,Rubin MJ,Markelz RJC,Welch S,Maloof JN,Weinig C

更新日期：2020-10-08 00:00:00

abstract：:CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) loci, together with cas (CRISPR-associated) genes, form the CRISPR/Cas adaptive immune system, a primary defense strategy that eubacteria and archaea mobilize against foreign nucleic acids, including phages and conjugative plasmids. Short spacer sequen...

journal_title：PLoS genetics

authors： Rho M,Wu YW,Tang H,Doak TG,Ye Y

更新日期：2012-01-01 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：:Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes. We used homozygosity analysis to identify probands from nonconsanguineous families that showed evidence of distant shared ancestry, suggesting potentially recess...

journal_title：PLoS genetics

authors： Chahrour MH,Yu TW,Lim ET,Ataman B,Coulter ME,Hill RS,Stevens CR,Schubert CR,ARRA Autism Sequencing Collaboration.,Greenberg ME,Gabriel SB,Walsh CA

更新日期：2012-01-01 00:00:00

abstract：:In the oocytes of many animals including humans, the meiotic spindle assembles without centrosomes. It is still unclear how multiple pathways contribute to spindle microtubule assembly, and whether they are regulated differently in mitosis and meiosis. Augmin is a γ-tubulin recruiting complex which "amplifies" spindle...

journal_title：PLoS genetics

authors： Colombié N,Głuszek AA,Meireles AM,Ohkura H

更新日期：2013-06-01 00:00:00

abstract：:Bacteria encode a single-stranded DNA (ssDNA) binding protein (SSB) crucial for genome maintenance. In Bacillus subtilis and Streptococcus pneumoniae, an alternative SSB, SsbB, is expressed uniquely during competence for genetic transformation, but its precise role has been disappointingly obscure. Here, we report our...

journal_title：PLoS genetics

authors： Attaiech L,Olivier A,Mortier-Barrière I,Soulet AL,Granadel C,Martin B,Polard P,Claverys JP

更新日期：2011-06-01 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 epigenetic regulation of gene expression by the covalent modification of histones is a fundamental mechanism required for the proper differentiation of germ line cells during development. Trimethylation of histone 3 lysine 9 (H3K9me3) leads to chromatin silencing and the formation of heterochromatin by recruitment...

journal_title：PLoS genetics

authors： Koch CM,Honemann-Capito M,Egger-Adam D,Wodarz A

更新日期：2009-09-01 00:00:00

abstract：:Detection and validation of the RNA degradation signals controlling transcriptome stability are essential steps for understanding how cells regulate gene expression. Here we present complete genomic and biochemical annotations of the signals required for RNA degradation by the dsRNA specific ribonuclease III (Rnt1p) a...

journal_title：PLoS genetics

authors： Gagnon J,Lavoie M,Catala M,Malenfant F,Elela SA

更新日期：2015-02-13 00:00:00

abstract：:Plant pathogens with a broad host range are able to infect plant lineages that diverged over 100 million years ago. They exert similar and recurring constraints on the evolution of unrelated plant populations. Plants generally respond with quantitative disease resistance (QDR), a form of immunity relying on complex ge...

journal_title：PLoS genetics

authors： Badet T,Voisin D,Mbengue M,Barascud M,Sucher J,Sadon P,Balagué C,Roby D,Raffaele S

更新日期：2017-12-22 00:00:00

abstract：:Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors. A common subtype of congenital sideroblastic anemia is due to autosomal recessive mutation...

journal_title：PLoS genetics

authors： Fernández-Murray JP,Prykhozhij SV,Dufay JN,Steele SL,Gaston D,Nasrallah GK,Coombs AJ,Liwski RS,Fernandez CV,Berman JN,McMaster CR

更新日期：2016-01-28 00:00:00

abstract：:Chronic inflammation promotes oncogenic transformation and tumor progression. Many inflammatory agents also generate a toxic microenvironment, implying that adaptive mechanisms must be deployed for cells to survive and undergo transformation in such unfavorable contexts. A paradigmatic case is represented by cancers o...

journal_title：PLoS genetics

authors： Collino A,Termanini A,Nicoli P,Diaferia G,Polletti S,Recordati C,Castiglioni V,Caruso D,Mitro N,Natoli G,Ghisletti S

更新日期：2018-05-07 00:00:00

abstract：:Somatic mutations in the nuclear genome are required for tumor formation, but the functional consequences of somatic mitochondrial DNA (mtDNA) mutations are less understood. Here we identify somatic mtDNA mutations across 527 tumors and 14 cancer types, using an approach that takes advantage of evidence from both geno...

journal_title：PLoS genetics

authors： Stewart JB,Alaei-Mahabadi B,Sabarinathan R,Samuelsson T,Gorodkin J,Gustafsson CM,Larsson E

更新日期：2015-06-30 00:00:00

abstract：:Genetic background exerts a strong modulatory effect on the toxicity of aggregation-prone proteins in conformational diseases. In addition to influencing the misfolding and aggregation behavior of the mutant proteins, polymorphisms in putative modifier genes may affect the molecular processes leading to the disease ph...

journal_title：PLoS genetics

authors： Gidalevitz T,Krupinski T,Garcia S,Morimoto RI

更新日期：2009-03-01 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

authors： Berry TE,Saunders BJ,Coghlan ML,Stat M,Jarman S,Richardson AJ,Davies CH,Berry O,Harvey ES,Bunce M

更新日期：2019-02-08 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：:The ability of specific neurons to regenerate their axons after injury is governed by cell-intrinsic regeneration pathways. However, the signaling pathways that orchestrate axon regeneration are not well understood. In Caenorhabditis elegans, initiation of axon regeneration is positively regulated by SVH-2 Met-like gr...

journal_title：PLoS genetics

authors： Hisamoto N,Nagamori Y,Shimizu T,Pastuhov SI,Matsumoto K

更新日期：2016-12-16 00:00:00

abstract：:Genome-wide association studies have successfully identified thousands of loci for a range of human complex traits and diseases. The proportion of phenotypic variance explained by significant associations is, however, limited. Given the same dense SNP panels, mixed model analyses capture a greater proportion of phenot...

journal_title：PLoS genetics

authors： Xia C,Amador C,Huffman J,Trochet H,Campbell A,Porteous D,Generation Scotland.,Hastie ND,Hayward C,Vitart V,Navarro P,Haley CS

更新日期：2016-02-02 00:00:00

abstract：:Metabolism, the conversion of nutrients into usable energy and biochemical building blocks, is an essential feature of all cells. The genetic factors responsible for inter-individual metabolic variability remain poorly understood. To investigate genetic causes of metabolome variation, we measured the concentrations of...

journal_title：PLoS genetics

authors： Breunig JS,Hackett SR,Rabinowitz JD,Kruglyak L

更新日期：2014-03-06 00:00:00

abstract：:There is growing evidence that gene expression profiling of peripheral blood cells is a valuable tool for assessing gene signatures related to exposure, drug-response, or disease. However, the true promise of this approach can not be estimated until the scientific community has robust baseline data describing variatio...

journal_title：PLoS genetics

authors： Dumeaux V,Olsen KS,Nuel G,Paulssen RH,Børresen-Dale AL,Lund E

更新日期：2010-03-12 00:00:00

abstract：:While there has been much recent focus on the ecological causes of adaptive diversification, we know less about the genetic nature of the trade-offs in resource use that create and maintain stable, diversified ecotypes. Here we show how a regulatory genetic change can contribute to sympatric diversification caused by ...

journal_title：PLoS genetics

authors： Spencer CC,Bertrand M,Travisano M,Doebeli M

更新日期：2007-01-19 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：: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：:A crucial step in the development of muscle cells in all metazoan animals is the assembly and anchorage of the sarcomere, the essential repeat unit responsible for muscle contraction. In Caenorhabditis elegans, many of the critical proteins involved in this process have been uncovered through mutational screens focusi...

journal_title：PLoS genetics

authors： Meissner B,Warner A,Wong K,Dube N,Lorch A,McKay SJ,Khattra J,Rogalski T,Somasiri A,Chaudhry I,Fox RM,Miller DM 3rd,Baillie DL,Holt RA,Jones SJ,Marra MA,Moerman DG

更新日期：2009-06-01 00:00:00

abstract：:ATM and ATR are two redundant checkpoint kinases essential for the stable maintenance of telomeres in eukaryotes. Previous studies have established that MRN (Mre11-Rad50-Nbs1) and ATRIP (ATR Interacting Protein) interact with ATM and ATR, respectively, and recruit their partner kinases to sites of DNA damage. Here, we...

journal_title：PLoS genetics

authors： Subramanian L,Nakamura TM

更新日期：2010-02-05 00:00:00

abstract：:The hallmark of canonical Wnt signaling is the transcriptional induction of Wnt target genes by the beta-catenin/TCF complex. Several studies have proposed alternative interaction partners for beta-catenin or TCF, but the relevance of potential bifurcations in the distal Wnt pathway remains unclear. Here we study on a...

journal_title：PLoS genetics

authors： Franz A,Shlyueva D,Brunner E,Stark A,Basler K

更新日期：2017-04-03 00:00:00