Slit-Dependent Endocytic Trafficking of the Robo Receptor Is Required for Son of Sevenless Recruitment and Midline Axon Repulsion.

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：:The semidominant Danforth's short tail (Sd) mutation arose spontaneously in the 1920s. The homozygous Sd phenotype includes severe malformations of the axial skeleton with an absent tail, kidney agenesis, anal atresia, and persistent cloaca. The Sd mutant phenotype mirrors features seen in human caudal malformation sy...

journal_title：PLoS genetics

authors： Vlangos CN,Siuniak AN,Robinson D,Chinnaiyan AM,Lyons RH Jr,Cavalcoli JD,Keegan CE

更新日期：2013-01-01 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：:Alternative pre-mRNA splicing adjusts the transcriptional output of the genome by generating related mRNAs from a single primary transcript, thereby expanding protein diversity. A fundamental unanswered question is how splicing factors achieve specificity in the selection of target substrates despite the recognition o...

journal_title：PLoS genetics

authors： Dembowski JA,Grabowski PJ

更新日期：2009-08-01 00:00:00

abstract：:The oligodendrocyte density is greater and myelin sheaths are thicker in the adult male mouse brain when compared with females. Here, we show that these sex differences emerge during the first 10 postnatal days, precisely at a stage when a late wave of oligodendrocyte progenitor cells arises and starts differentiating...

journal_title：PLoS genetics

authors： Abi Ghanem C,Degerny C,Hussain R,Liere P,Pianos A,Tourpin S,Habert R,Macklin WB,Schumacher M,Ghoumari AM

更新日期：2017-11-06 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：:Muscle-eye-brain disease (MEB) and Walker Warburg Syndrome (WWS) belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of MEB/WWS has been attributed to alteration in dystroglycan post-trans...

journal_title：PLoS genetics

authors： Labelle-Dumais C,Dilworth DJ,Harrington EP,de Leau M,Lyons D,Kabaeva Z,Manzini MC,Dobyns WB,Walsh CA,Michele DE,Gould DB

更新日期：2011-05-01 00:00:00

abstract：:Populations in sub-Saharan Africa have historically been exposed to intense selection from chronic infection with falciparum malaria. Interestingly, populations with the highest malaria intensity can be identified by the increased occurrence of endemic Burkitt Lymphoma (eBL), a pediatric cancer that affects population...

journal_title：PLoS genetics

authors： Gouveia MH,Bergen AW,Borda V,Nunes K,Leal TP,Ogwang MD,Yeboah ED,Mensah JE,Kinyera T,Otim I,Nabalende H,Legason ID,Mpoloka SW,Mokone GG,Kerchan P,Bhatia K,Reynolds SJ,Birtwum RB,Adjei AA,Tettey Y,Tay E,Hoover R

更新日期：2019-03-08 00:00:00

abstract：:Qsp1 is a secreted quorum sensing peptide required for virulence of the fungal meningitis pathogen Cryptococcus neoformans. Qsp1 functions to control cell wall integrity in vegetatively growing cells and also functions in mating. Rather than acting on a cell surface receptor, Qsp1 is imported to act intracellularly vi...

journal_title：PLoS genetics

authors： Summers DK,Perry DS,Rao B,Madhani HD

更新日期：2020-09-21 00:00:00

abstract：:Resequencing is an emerging tool for identification of rare disease-associated mutations. Rare mutations are difficult to tag with SNP genotyping, as genotyping studies are designed to detect common variants. However, studies have shown that genetic heterogeneity is a probable scenario for common diseases, in which mu...

journal_title：PLoS genetics

authors： Madsen BE,Browning SR

更新日期：2009-02-01 00:00:00

abstract：:Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2), plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response. We demonstrate that senataxin is essential for spermatogenesis and that it functions at ...

journal_title：PLoS genetics

authors： Becherel OJ,Yeo AJ,Stellati A,Heng EY,Luff J,Suraweera AM,Woods R,Fleming J,Carrie D,McKinney K,Xu X,Deng C,Lavin MF

更新日期：2013-04-01 00:00:00

abstract：:Knowledge of the functional cis-regulatory elements that regulate constitutive and alternative pre-mRNA splicing is fundamental for biology and medicine. Here we undertook a genome-wide comparative genomics approach using available mammalian genomes to identify conserved intronic splicing regulatory elements (ISREs). ...

journal_title：PLoS genetics

authors： Yeo GW,Van Nostrand EL,Liang TY

更新日期：2007-05-25 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：:Phenotypes extracted from Electronic Health Records (EHRs) are increasingly prevalent in genetic studies. EHRs contain hundreds of distinct clinical laboratory test results, providing a trove of health data beyond diagnoses. Such lab data is complex and lacks a ubiquitous coding scheme, making it more challenging than...

journal_title：PLoS genetics

authors： Goldstein JA,Weinstock JS,Bastarache LA,Larach DB,Fritsche LG,Schmidt EM,Brummett CM,Kheterpal S,Abecasis GR,Denny JC,Zawistowski M

更新日期：2020-11-11 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：:Thymine DNA glycosylase (TDG) functions in base excision repair, a DNA repair pathway that acts in a lesion-specific manner to correct individual damaged or altered bases. TDG preferentially catalyzes the removal of thymine and uracil paired with guanine, and is also active on 5-fluorouracil (5-FU) paired with adenine...

journal_title：PLoS genetics

authors： Sjolund A,Nemec AA,Paquet N,Prakash A,Sung P,Doublié S,Sweasy JB

更新日期：2014-11-06 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：:The Caenorhabditis elegans class A and B synthetic multivulva (synMuv) genes redundantly antagonize an EGF/Ras pathway to prevent ectopic vulval induction. We identify a class A synMuv mutation in the promoter of the lin-3 EGF gene, establishing that lin-3 is the key biological target of the class A synMuv genes in vu...

journal_title：PLoS genetics

authors： Saffer AM,Kim DH,van Oudenaarden A,Horvitz HR

更新日期：2011-12-01 00:00:00

abstract：:Both anatomically modern humans and the gastric pathogen Helicobacter pylori originated in Africa, and both species have been associated for at least 100,000 years. Seven geographically distinct H. pylori populations exist, three of which are indigenous to Africa: hpAfrica1, hpAfrica2, and hpNEAfrica. The oldest and m...

journal_title：PLoS genetics

authors： Nell S,Eibach D,Montano V,Maady A,Nkwescheu A,Siri J,Elamin WF,Falush D,Linz B,Achtman M,Moodley Y,Suerbaum S

更新日期：2013-01-01 00:00:00

abstract：:Abnormal accumulation of the microtubule-interacting protein tau is associated with neurodegenerative diseases including Alzheimer's disease (AD). β-amyloid (Aβ) lies upstream of abnormal tau behavior, including detachment from microtubules, phosphorylation at several disease-specific sites, and self-aggregation into ...

journal_title：PLoS genetics

authors： Ando K,Maruko-Otake A,Ohtake Y,Hayashishita M,Sekiya M,Iijima KM

更新日期：2016-03-29 00:00:00

abstract：:Auxin is a major developmental regulator in plants and the acquisition of a transcriptional response to auxin likely contributed to developmental innovations at the time of water-to-land transition. Auxin Response Factors (ARFs) Transcription Factors (TFs) that mediate auxin-dependent transcriptional changes are divid...

journal_title：PLoS genetics

authors： Martin-Arevalillo R,Thévenon E,Jégu F,Vinos-Poyo T,Vernoux T,Parcy F,Dumas R

更新日期：2019-09-25 00:00:00

abstract：:Vegetative phase change is regulated by a decrease in the abundance of the miRNAs, miR156 and miR157, and the resulting increase in the expression of their targets, SQUAMOSA PROMOTER BINDING PROTEIN-LIKE (SPL) transcription factors. To determine how miR156/miR157 specify the quantitative and qualitative changes in lea...

journal_title：PLoS genetics

authors： He J,Xu M,Willmann MR,McCormick K,Hu T,Yang L,Starker CG,Voytas DF,Meyers BC,Poethig RS

更新日期：2018-04-19 00:00:00

abstract：:Genome integrity depends on correct chromosome segregation, which in turn relies on cohesion between sister chromatids from S phase until anaphase. S phase cohesion, together with DNA double-strand break (DSB) recruitment of cohesin and formation of damage-induced (DI) cohesion, has previously been shown to be require...

journal_title：PLoS genetics

authors： Enervald E,Lindgren E,Katou Y,Shirahige K,Ström L

更新日期：2013-01-01 00:00:00

abstract：:DNA replication programs have been studied extensively in yeast and animal systems, where they have been shown to correlate with gene expression and certain epigenetic modifications. Despite the conservation of core DNA replication proteins, little is known about replication programs in plants. We used flow cytometry ...

journal_title：PLoS genetics

authors： Lee TJ,Pascuzzi PE,Settlage SB,Shultz RW,Tanurdzic M,Rabinowicz PD,Menges M,Zheng P,Main D,Murray JA,Sosinski B,Allen GC,Martienssen RA,Hanley-Bowdoin L,Vaughn MW,Thompson WF

更新日期：2010-06-10 00:00:00

abstract：:The Alphaproteobacteria show a remarkable diversity of cell cycle-dependent developmental patterns, which are governed by the conserved CtrA pathway. Its central component CtrA is a DNA-binding response regulator that is controlled by a complex two-component signaling network, mediating distinct transcriptional progra...

journal_title：PLoS genetics

authors： Leicht O,van Teeseling MCF,Panis G,Reif C,Wendt H,Viollier PH,Thanbichler M

更新日期：2020-04-23 00:00:00

abstract：:Neisseria meningitidis is the primary causative agent of bacterial meningitis. The genome is rich in repetitive DNA and almost 2% is occupied by a diminutive transposon called the Correia element. Here we report a bioinformatic analysis defining eight subtypes of the element with four distinct types of ends. Transcrip...

journal_title：PLoS genetics

authors： Siddique A,Buisine N,Chalmers R

更新日期：2011-01-20 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：:Bromodomain proteins are key regulators of gene expression. How the levels of these factors are regulated in specific environmental conditions is unknown. Previous work has established that expression of yeast Bromodomain factor 2 (BDF2) is limited by spliceosome-mediated decay (SMD). Here we show that BDF2 is subject...

journal_title：PLoS genetics

authors： Roy K,Chanfreau G

更新日期：2014-09-18 00:00:00

abstract：:Regenerative processes are critical to maintain tissue homeostasis in high-turnover tissues. At the same time, proliferation of stem and progenitor cells has to be carefully controlled to prevent hyper-proliferative diseases. Mechanisms that ensure this balance, thus promoting proliferative homeostasis, are expected t...

journal_title：PLoS genetics

authors： Biteau B,Karpac J,Supoyo S,Degennaro M,Lehmann R,Jasper H

更新日期：2010-10-14 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