MORC2B is essential for meiotic progression and fertility.

abstract：:Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitutes the extreme of hyperopia or farsightedness, a common refractive e...

journal_title：PLoS genetics

authors： Garnai SJ,Brinkmeier ML,Emery B,Aleman TS,Pyle LC,Veleva-Rotse B,Sisk RA,Rozsa FW,Ozel AB,Li JZ,Moroi SE,Archer SM,Lin CM,Sheskey S,Wiinikka-Buesser L,Eadie J,Urquhart JE,Black GCM,Othman MI,Boehnke M,Sullivan SA

更新日期：2019-05-02 00:00:00

abstract：:Practical application of genomic-based risk stratification to clinical diagnosis is appealing yet performance varies widely depending on the disease and genomic risk score (GRS) method. Celiac disease (CD), a common immune-mediated illness, is strongly genetically determined and requires specific HLA haplotypes. HLA t...

journal_title：PLoS genetics

authors： Abraham G,Tye-Din JA,Bhalala OG,Kowalczyk A,Zobel J,Inouye M

更新日期：2014-02-13 00:00:00

abstract：:During organogenesis, PAX6 is required for establishment of various progenitor subtypes within the central nervous system, eye and pancreas. PAX6 expression is maintained in a variety of cell types within each organ, although its role in each lineage and how it acquires cell-specific activity remain elusive. Herein, w...

journal_title：PLoS genetics

authors： Raviv S,Bharti K,Rencus-Lazar S,Cohen-Tayar Y,Schyr R,Evantal N,Meshorer E,Zilberberg A,Idelson M,Reubinoff B,Grebe R,Rosin-Arbesfeld R,Lauderdale J,Lutty G,Arnheiter H,Ashery-Padan R

更新日期：2014-05-29 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：:Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP). We have previously demonstrated that dFmr1, the Drosophila ortholog of the fragile X mental retardation 1 gene, plays a role in the proper maintenance of germline stem cells in Droso...

journal_title：PLoS genetics

authors： Yang Y,Xu S,Xia L,Wang J,Wen S,Jin P,Chen D

更新日期：2009-04-01 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：:Asymmetrical segregation of differentiated sister chromatids is thought to be important for cellular differentiation in higher eukaryotes. Similarly, in fission yeast, cellular differentiation involves the asymmetrical segregation of a chromosomal imprint. This imprint has been shown to consist of two ribonucleotides ...

journal_title：PLoS genetics

authors： Sayrac S,Vengrova S,Godfrey EL,Dalgaard JZ

更新日期：2011-03-01 00:00:00

abstract：:Mitochondrial translation defects can be due to mutations affecting mitochondrial- or nuclear-encoded components. The number of known nuclear genes involved in mitochondrial translation has significantly increased in the past years. RCC1L (WBSCR16), a putative GDP/GTP exchange factor, has recently been described to in...

journal_title：PLoS genetics

authors： Reyes A,Favia P,Vidoni S,Petruzzella V,Zeviani M

更新日期：2020-07-31 00:00:00

abstract：:Genetic models of ribosome dysfunction show selective organ failure, highlighting a gap in our understanding of cell-type specific responses to translation insufficiency. Translation defects underlie a growing list of inherited and acquired cancer-predisposition syndromes referred to as ribosomopathies. We sought to i...

journal_title：PLoS genetics

authors： Tourlakis ME,Zhang S,Ball HL,Gandhi R,Liu H,Zhong J,Yuan JS,Guidos CJ,Durie PR,Rommens JM

更新日期：2015-06-09 00:00:00

abstract：:In metazoan germlines, the piRNA pathway acts as a genomic immune system, employing small RNA-mediated silencing to defend host DNA from the harmful effects of transposable elements (TEs). Expression of genomic TEs is proposed to initiate self regulation by increasing the production of repressive piRNAs, thereby "adap...

journal_title：PLoS genetics

authors： Wang L,Barbash DA,Kelleher ES

更新日期：2020-06-11 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：: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：:The ascomycete Trichoderma reesei is a highly prolific cellulase producer. While XYR1 (Xylanase regulator 1) has been firmly established to be the master activator of cellulase gene expression in T. reesei, its precise transcriptional activation mechanism remains poorly understood. In the present study, TrGAL11, a com...

journal_title：PLoS genetics

authors： Zheng F,Cao Y,Yang R,Wang L,Lv X,Zhang W,Meng X,Liu W

更新日期：2020-09-02 00:00:00

abstract：:Meiotic cytokinesis influences the fertility and ploidy of gametes. However, limited information is available on the genetic control of meiotic cytokinesis in plants. Here, we identified a rice mutant with low male fertility, defective callose in meiosis 1 (dcm1). The pollen grains of dcm1 are proved to be defective i...

journal_title：PLoS genetics

authors： Zhang C,Shen Y,Tang D,Shi W,Zhang D,Du G,Zhou Y,Liang G,Li Y,Cheng Z

更新日期：2018-11-12 00:00:00

abstract：:Zeins, the predominent storage proteins in maize endosperm, are encoded by multiple genes and gene families. However, only a few transcriptional factors for zein gene regulation have been functionally characterized. In this study, a MADS-box protein, namely ZmMADS47, was identified as an Opaque2 (O2) interacting prote...

journal_title：PLoS genetics

authors： Qiao Z,Qi W,Wang Q,Feng Y,Yang Q,Zhang N,Wang S,Tang Y,Song R

更新日期：2016-04-14 00:00:00

abstract：:Wnt signaling provides a paradigm for cell-cell signals that regulate embryonic development and stem cell homeostasis and are inappropriately activated in cancers. The tumor suppressors APC and Axin form the core of the multiprotein destruction complex, which targets the Wnt-effector beta-catenin for phosphorylation, ...

journal_title：PLoS genetics

authors： Schaefer KN,Bonello TT,Zhang S,Williams CE,Roberts DM,McKay DJ,Peifer M

更新日期：2018-04-11 00:00:00

abstract：:Checkpoint pathways regulate genomic integrity in part by blocking anaphase until all chromosomes have been completely replicated, repaired, and correctly aligned on the spindle. In Saccharomyces cerevisiae, DNA damage and mono-oriented or unattached kinetochores trigger checkpoint pathways that bifurcate to regulate ...

journal_title：PLoS genetics

authors： Searle JS,Wood MD,Kaur M,Tobin DV,Sanchez Y

更新日期：2011-07-01 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：:Intestinal stem cell (ISC) self-renewal and proliferation are directed by Wnt/β-catenin signaling in mammals, whereas aberrant Wnt pathway activation in ISCs triggers the development of human colorectal carcinoma. Herein, we have utilized the Drosophila midgut, a powerful model for ISC regulation, to elucidate the mec...

journal_title：PLoS genetics

authors： Tian A,Benchabane H,Wang Z,Ahmed Y

更新日期：2016-02-04 00:00:00

abstract：:Mutational fitness effects can be measured with relatively high accuracy in viruses due to their small genome size, which facilitates full-length sequencing and genetic manipulation. Previous work has shown that animal and plant RNA viruses are very sensitive to mutation. Here, we characterize mutational fitness effec...

journal_title：PLoS genetics

authors： Domingo-Calap P,Cuevas JM,Sanjuán R

更新日期：2009-11-01 00:00:00

abstract：:The application of deep sequencing to map 5' capped transcripts has confirmed the existence of at least two distinct promoter classes in metazoans: "focused" promoters with transcription start sites (TSSs) that occur in a narrowly defined genomic span and "dispersed" promoters with TSSs that are spread over a larger w...

journal_title：PLoS genetics

authors： Rach EA,Winter DR,Benjamin AM,Corcoran DL,Ni T,Zhu J,Ohler U

更新日期：2011-01-13 00:00:00

abstract：:Plant resistance (R) proteins provide a robust surveillance system to defend against potential pathogens. Despite their importance in plant innate immunity, relatively few of the approximately 170 R proteins in Arabidopsis have well-characterized resistance specificity. In order to identify the R protein responsible f...

journal_title：PLoS genetics

authors： Lewis JD,Wu R,Guttman DS,Desveaux D

更新日期：2010-04-01 00:00:00

abstract：:Systems biology approaches that are based on the genetics of gene expression have been fruitful in identifying genetic regulatory loci related to complex traits. We use microarray and genetic marker data from an F2 mouse intercross to examine the large-scale organization of the gene co-expression network in liver, and...

journal_title：PLoS genetics

authors： Ghazalpour A,Doss S,Zhang B,Wang S,Plaisier C,Castellanos R,Brozell A,Schadt EE,Drake TA,Lusis AJ,Horvath S

更新日期：2006-08-18 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：:The cerebellum is a pivotal centre for the integration and processing of motor and sensory information. Its extended development into the postnatal period makes this structure vulnerable to a variety of pathologies, including neoplasia. These properties have prompted intensive investigations that reveal not only devel...

journal_title：PLoS genetics

authors： van Essen MJ,Nayler S,Becker EBE,Jacob J

更新日期：2020-04-16 00:00:00

abstract：:It has been suggested that genetic susceptibility plays an important role in the pathogenesis of diabetic nephropathy. A large-scale genotyping analysis of gene-based single nucleotide polymorphisms (SNPs) in Japanese patients with type 2 diabetes identified the gene encoding acetyl-coenzyme A carboxylase beta (ACACB)...

journal_title：PLoS genetics

authors： Maeda S,Kobayashi MA,Araki S,Babazono T,Freedman BI,Bostrom MA,Cooke JN,Toyoda M,Umezono T,Tarnow L,Hansen T,Gaede P,Jorsal A,Ng DP,Ikeda M,Yanagimoto T,Tsunoda T,Unoki H,Kawai K,Imanishi M,Suzuki D,Shin HD,Pa

更新日期：2010-02-12 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：:Generally, the second messenger bis-(3'-5')-cyclic dimeric GMP (c-di-GMP) regulates the switch between motile and sessile lifestyles in bacteria. Here, we show that c-di-GMP is an essential regulator of multicellular development in the social bacterium Myxococcus xanthus. In response to starvation, M. xanthus initiate...

journal_title：PLoS genetics

authors： Skotnicka D,Smaldone GT,Petters T,Trampari E,Liang J,Kaever V,Malone JG,Singer M,Søgaard-Andersen L

更新日期：2016-05-23 00:00:00

abstract：:Light and microRNAs (miRNAs) are key external and internal signals for plant development, respectively. However, the relationship between the light signaling and miRNA biogenesis pathways remains unknown. Here we found that miRNA processer proteins DCL1 and HYL1 interact with a basic helix-loop-helix (bHLH) transcript...

journal_title：PLoS genetics

authors： Sun Z,Li M,Zhou Y,Guo T,Liu Y,Zhang H,Fang Y

更新日期：2018-03-09 00:00:00

abstract：:Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations ...

journal_title：PLoS genetics

authors： Yehia L,Ni Y,Sesock K,Niazi F,Fletcher B,Chen HJL,LaFramboise T,Eng C

更新日期：2018-04-23 00:00:00