Mouse pachytene checkpoint 2 (trip13) is required for completing meiotic recombination but not synapsis.

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：:[This corrects the article DOI: 10.1371/journal.pgen.1005854.]. ...

journal_title：PLoS genetics

authors： PLOS Genetics Staff.

更新日期：2016-05-12 00:00:00

abstract：:Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxin...

journal_title：PLoS genetics

authors： Downey CM,Horton CR,Carlson BA,Parsons TE,Hatfield DL,Hallgrímsson B,Jirik FR

更新日期：2009-08-01 00:00:00

abstract：:The molecular mechanisms of animal cell osmoregulation are poorly understood. Genetic studies of osmoregulation in yeast have identified mucin-like proteins as critical regulators of osmosensitive signaling and gene expression. Whether mucins play similar roles in higher organisms is not known. Here, we show that muta...

journal_title：PLoS genetics

authors： Rohlfing AK,Miteva Y,Moronetti L,He L,Lamitina T

更新日期：2011-01-06 00:00:00

abstract：:Nephrolithiasis is a common nephrologic disorder with complex etiology. To identify the genetic factor(s) for nephrolithiasis, we conducted a three-stage genome-wide association study (GWAS) using a total of 5,892 nephrolithiasis cases and 17,809 controls of Japanese origin. Here we found three novel loci for nephroli...

journal_title：PLoS genetics

authors： Urabe Y,Tanikawa C,Takahashi A,Okada Y,Morizono T,Tsunoda T,Kamatani N,Kohri K,Chayama K,Kubo M,Nakamura Y,Matsuda K

更新日期：2012-01-01 00:00:00

abstract：:Evolution of gene regulation is crucial for our understanding of the phenotypic differences between species, populations and individuals. Sequence-specific binding of transcription factors to the regulatory regions on the DNA is a key regulatory mechanism that determines gene expression and hence heritable phenotypic ...

journal_title：PLoS genetics

authors： Tuğrul M,Paixão T,Barton NH,Tkačik G

更新日期：2015-11-06 00:00:00

abstract：:Systemic lupus erythematosus (SLE) is an autoimmune disease with known genetic, epigenetic, and environmental risk factors. To assess the role of DNA methylation in SLE, we collected CD4+ T-cells, CD19+ B-cells, and CD14+ monocytes from 49 SLE patients and 58 controls, and performed genome-wide DNA methylation analysi...

journal_title：PLoS genetics

authors： Absher DM,Li X,Waite LL,Gibson A,Roberts K,Edberg J,Chatham WW,Kimberly RP

更新日期：2013-01-01 00:00:00

abstract：:MicroRNAs (miRNAs) play important roles in normal cellular differentiation and oncogenesis. microRNA93 (mir-93), a member of the mir106b-25 cluster, located in intron 13 of the MCM7 gene, although frequently overexpressed in human malignancies may also function as a tumor suppressor gene. Using a series of breast canc...

journal_title：PLoS genetics

authors： Liu S,Patel SH,Ginestier C,Ibarra I,Martin-Trevino R,Bai S,McDermott SP,Shang L,Ke J,Ou SJ,Heath A,Zhang KJ,Korkaya H,Clouthier SG,Charafe-Jauffret E,Birnbaum D,Hannon GJ,Wicha MS

更新日期：2012-01-01 00:00:00

abstract：:In response to stress and injury a coordinated activation of conserved signalling modules, such as JNK and JAK/STAT, is critical to trigger regenerative tissue restoration. While these pathways rebuild homeostasis and promote faithful organ recovery, it is intriguing that they also become activated in various tumour c...

journal_title：PLoS genetics

authors： Beira JV,Torres J,Paro R

更新日期：2018-01-22 00:00:00

abstract：:Deletion of tumor suppressor genes in stromal fibroblasts induces epithelial cancer development, suggesting an important role of stroma in epithelial homoeostasis. However, the underlying mechanisms remain to be elucidated. Here we report that deletion of the gene encoding TGFβ receptor 2 (Tgfbr2) in the stromal fibro...

journal_title：PLoS genetics

authors： Achyut BR,Bader DA,Robles AI,Wangsa D,Harris CC,Ried T,Yang L

更新日期：2013-01-01 00:00:00

abstract：:Malaria parasites follow a complex life cycle that consists of multiple stages that span from the human host to the mosquito vector. Among the species causing malaria, Plasmodium falciparum is the most lethal, with clinical symptoms manifesting during the intraerythrocytic developmental cycle (IDC). During the IDC, P....

journal_title：PLoS genetics

authors： Walzer KA,Fradin H,Emerson LY,Corcoran DL,Chi JT

更新日期：2019-12-19 00:00:00

abstract：:The PTEN-induced kinase 1 (PINK1) is a mitochondrial kinase, and pink1 mutations cause early onset Parkinson's disease (PD) in humans. Loss of pink1 in Drosophila leads to defects in mitochondrial function, and genetic data suggest that another PD-related gene product, Parkin, acts with pink1 to regulate the clearance...

journal_title：PLoS genetics

authors： Esposito G,Vos M,Vilain S,Swerts J,De Sousa Valadas J,Van Meensel S,Schaap O,Verstreken P

更新日期：2013-04-01 00:00:00

abstract：:Evolutionary rescue occurs when a population that is threatened with extinction by an environmental change adapts to the change sufficiently rapidly to survive. Here we extend the mathematical theory of evolutionary rescue. In particular, we model evolutionary rescue to a sudden environmental change when adaptation in...

journal_title：PLoS genetics

authors： Orr HA,Unckless RL

更新日期：2014-08-14 00:00:00

abstract：:We previously reported that TR2 and TR4 orphan nuclear receptors bind to direct repeat (DR) elements in the ε- and γ-globin promoters, and act as molecular anchors for the recruitment of epigenetic corepressors of the multifaceted DRED complex, thereby leading to ε- and γ-globin transcriptional repression during defin...

journal_title：PLoS genetics

authors： Shi L,Sierant MC,Gurdziel K,Zhu F,Cui S,Kolodziej KE,Strouboulis J,Guan Y,Tanabe O,Lim KC,Engel JD

更新日期：2014-05-08 00:00:00

abstract：:Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this rearrangement remains enigmatic, but deletion of this 3.3-kb macrosatellite element might affect the expression of the ...

journal_title：PLoS genetics

authors： Ottaviani A,Rival-Gervier S,Boussouar A,Foerster AM,Rondier D,Sacconi S,Desnuelle C,Gilson E,Magdinier F

更新日期：2009-02-01 00:00:00

abstract：:Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromo...

journal_title：PLoS genetics

authors： Roewer L,Nothnagel M,Gusmão L,Gomes V,González M,Corach D,Sala A,Alechine E,Palha T,Santos N,Ribeiro-Dos-Santos A,Geppert M,Willuweit S,Nagy M,Zweynert S,Baeta M,Núñez C,Martínez-Jarreta B,González-Andrade F,Fagunde

更新日期：2013-04-01 00:00:00

abstract：:White blood cell (WBC) count is a common clinical measure from complete blood count assays, and it varies widely among healthy individuals. Total WBC count and its constituent subtypes have been shown to be moderately heritable, with the heritability estimates varying across cell types. We studied 19,509 subjects from...

journal_title：PLoS genetics

authors： Nalls MA,Couper DJ,Tanaka T,van Rooij FJ,Chen MH,Smith AV,Toniolo D,Zakai NA,Yang Q,Greinacher A,Wood AR,Garcia M,Gasparini P,Liu Y,Lumley T,Folsom AR,Reiner AP,Gieger C,Lagou V,Felix JF,Völzke H,Gouskova NA,B

更新日期：2011-06-01 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：:Skin pigment patterns of vertebrates are a classic system for understanding fundamental mechanisms of morphogenesis, differentiation, and pattern formation, and recent studies of zebrafish have started to elucidate the cellular interactions and molecular mechanisms underlying these processes. In this species, horizont...

journal_title：PLoS genetics

authors： Patterson LB,Parichy DM

更新日期：2013-05-01 00:00:00

abstract：:Conjugative transfer of the integrative and conjugative element ICEclc in the bacterium Pseudomonas knackmussii is the consequence of a bistable decision taken in some 3% of cells in a population during stationary phase. Here we study the possible control exerted by the stationary phase sigma factor RpoS on the bistab...

journal_title：PLoS genetics

authors： Miyazaki R,Minoia M,Pradervand N,Sulser S,Reinhard F,van der Meer JR

更新日期：2012-01-01 00:00:00

abstract：:The bacterial cell wall, which is comprised of a mesh of polysaccharide strands crosslinked via peptide bridges (peptidoglycan, PG), is critical for maintenance of cell shape and survival. PG assembly is mediated by a variety of Penicillin Binding Proteins (PBP) whose fundamental activities have been characterized in ...

journal_title：PLoS genetics

authors： Dörr T,Lam H,Alvarez L,Cava F,Davis BM,Waldor MK

更新日期：2014-06-19 00:00:00

abstract：:PCNA ubiquitylation on lysine 164 is required for DNA damage tolerance. In many organisms PCNA is also ubiquitylated in unchallenged S phase but the significance of this has not been established. Using Schizosaccharomyces pombe, we demonstrate that lysine 164 ubiquitylation of PCNA contributes to efficient DNA replica...

journal_title：PLoS genetics

authors： Daigaku Y,Etheridge TJ,Nakazawa Y,Nakayama M,Watson AT,Miyabe I,Ogi T,Osborne MA,Carr AM

更新日期：2017-05-08 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1006788.]. ...

journal_title：PLoS genetics

authors： Sharma V,Pandey AK,Kumar A,Misra S,Gupta HPK,Gupta S,Singh A,Buehner NA,Ravi Ram K

更新日期：2017-07-12 00:00:00

abstract：:We resequenced and phased 27 kb of DNA within 580 kb of the MHC class II region in 158 population chromosomes, most of which were conserved extended haplotypes (CEHs) of European descent or contained their centromeric fragments. We determined the single nucleotide polymorphism and deletion-insertion polymorphism allel...

journal_title：PLoS genetics

authors： Larsen CE,Alford DR,Trautwein MR,Jalloh YK,Tarnacki JL,Kunnenkeri SK,Fici DA,Yunis EJ,Awdeh ZL,Alper CA

更新日期：2014-10-09 00:00:00

abstract：:We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in orde...

journal_title：PLoS genetics

authors： Marcheco-Teruel B,Parra EJ,Fuentes-Smith E,Salas A,Buttenschøn HN,Demontis D,Torres-Español M,Marín-Padrón LC,Gómez-Cabezas EJ,Alvarez-Iglesias V,Mosquera-Miguel A,Martínez-Fuentes A,Carracedo A,Børglum AD,Mors O

更新日期：2014-07-24 00:00:00

abstract：:Gene retroposition leads to considerable genetic variation between individuals. Recent studies revealed the presence of at least 208 retroduplication variations (RDVs), a class of polymorphisms, in which a retrocopy is present or absent from individual genomes. Most of these RDVs resulted from recent retroduplications...

journal_title：PLoS genetics

authors： Kabza M,Kubiak MR,Danek A,Rosikiewicz W,Deorowicz S,Polański A,Makałowska I

更新日期：2015-10-16 00:00:00

abstract：:Adult skeletal muscles are maintained during homeostasis and regenerated upon injury by muscle stem cells (MuSCs). A heterogeneity in self-renewal, differentiation and regeneration properties has been reported for MuSCs based on their anatomical location. Although MuSCs derived from extraocular muscles (EOM) have a hi...

journal_title：PLoS genetics

authors： Evano B,Gill D,Hernando-Herraez I,Comai G,Stubbs TM,Commere PH,Reik W,Tajbakhsh S

更新日期：2020-10-30 00:00:00

abstract：:In many insects, the accessory gland, a secretory tissue of the male reproductive system, is essential for male fertility. Male accessory gland is the major source of proteinaceous secretions, collectively called as seminal proteins (or accessory gland proteins), which upon transfer, manipulate the physiology and beha...

journal_title：PLoS genetics

authors： Sharma V,Pandey AK,Kumar A,Misra S,Gupta HPK,Gupta S,Singh A,Buehner NA,Ravi Ram K

更新日期：2017-05-11 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：:Endoplasmic reticulum (ER) stress activates the Unfolded Protein Response, a compensatory signaling response that is mediated by the IRE-1, PERK/PEK-1, and ATF-6 pathways in metazoans. Genetic studies have implicated roles for UPR signaling in animal development and disease, but the function of the UPR under physiolog...

journal_title：PLoS genetics

authors： Richardson CE,Kinkel S,Kim DH

更新日期：2011-11-01 00:00:00