Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.

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：:Immunoregulatory cytokine interleukin-10 (IL-10) is elevated in sera from patients with systemic lupus erythematosus (SLE) correlating with disease activity. The established association of IL10 with SLE and other autoimmune diseases led us to fine map causal variant(s) and to explore underlying mechanisms. We assessed...

journal_title：PLoS genetics

authors： Sakurai D,Zhao J,Deng Y,Kelly JA,Brown EE,Harley JB,Bae SC,Alarcόn-Riquelme ME,BIOLUPUS and GENLES networks.,Edberg JC,Kimberly RP,Ramsey-Goldman R,Petri MA,Reveille JD,Vilá LM,Alarcón GS,Kaufman KM,Vyse TJ,Jacob CO,

更新日期：2013-01-01 00:00:00

abstract：:MicroRNAs (miRNAs) are small, non-coding RNAs that play essential roles in plant growth, development, and stress response. We conducted a genome-wide survey of maize miRNA genes, characterizing their structure, expression, and evolution. Computational approaches based on homology and secondary structure modeling ident...

journal_title：PLoS genetics

authors： Zhang L,Chia JM,Kumari S,Stein JC,Liu Z,Narechania A,Maher CA,Guill K,McMullen MD,Ware D

更新日期：2009-11-01 00:00:00

abstract：:Sleep contributes to cognitive functioning and is sufficient to alter brain morphology and function. However, mechanisms underlying sleep regulation remain poorly understood. In mammals, tumor necrosis factor-alpha (TNFα) is known to regulate sleep, and cytokine expression may represent an evolutionarily ancient mecha...

journal_title：PLoS genetics

authors： Vanderheyden WM,Goodman AG,Taylor RH,Frank MG,Van Dongen HPA,Gerstner JR

更新日期：2018-10-31 00:00:00

abstract：:Unexplained cardiac arrest (UCA) with documented ventricular fibrillation (VF) is a major cause of sudden cardiac death. Abnormal sympathetic innervations have been shown to be a trigger of ventricular fibrillation. Further, adequate expression of SEMA3A was reported to be critical for normal patterning of cardiac sym...

journal_title：PLoS genetics

authors： Nakano Y,Chayama K,Ochi H,Toshishige M,Hayashida Y,Miki D,Hayes CN,Suzuki H,Tokuyama T,Oda N,Suenari K,Uchimura-Makita Y,Kajihara K,Sairaku A,Motoda C,Fujiwara M,Watanabe Y,Yoshida Y,Ohkubo K,Watanabe I,Nogami A,

更新日期：2013-04-01 00:00:00

abstract：:We have recently shown that hypomorphic Mre11 complex mouse mutants exhibit defects in the repair of meiotic double strand breaks (DSBs). This is associated with perturbation of synaptonemal complex morphogenesis, repair and regulation of crossover formation. To further assess the Mre11 complex's role in meiotic progr...

journal_title：PLoS genetics

authors： Adelman CA,Petrini JH

更新日期：2008-03-28 00:00:00

abstract：:Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Recently, PAH exon 11 was identified as a vulnerable exon due to a weak 3' splice site, with different exonic mutations affecting exon 11 splicing through disru...

journal_title：PLoS genetics

authors： Martínez-Pizarro A,Dembic M,Pérez B,Andresen BS,Desviat LR

更新日期：2018-04-23 00:00:00

abstract：:Movement of the transcription machinery along a template alters DNA topology resulting in the accumulation of supercoils in DNA. The positive supercoils generated ahead of transcribing RNA polymerase (RNAP) and the negative supercoils accumulating behind impose severe topological constraints impeding transcription pro...

journal_title：PLoS genetics

authors： Ahmed W,Sala C,Hegde SR,Jha RK,Cole ST,Nagaraja V

更新日期：2017-05-02 00:00:00

abstract：:Communication between neoplastic cells and cells of their microenvironment is critical to cancer progression. To investigate the role of cytoneme-mediated signaling as a mechanism for distributing growth factor signaling proteins between tumor and tumor-associated cells, we analyzed EGFR and RET Drosophila tumor model...

journal_title：PLoS genetics

authors： Fereres S,Hatori R,Hatori M,Kornberg TB

更新日期：2019-09-30 00:00:00

abstract：:Aneuploidy refers to losses and/or gains of individual chromosomes from the normal chromosome set. The resulting gene dosage imbalance has a noticeable affect on the phenotype, as illustrated by aneuploid syndromes, including Down syndrome in humans, and by human solid tumor cells, which are highly aneuploid. Although...

journal_title：PLoS genetics

authors： Huettel B,Kreil DP,Matzke M,Matzke AJ

更新日期：2008-10-01 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：:Cereal endosperm represents 60% of the calories consumed by human beings worldwide. In addition, cereals also serve as the primary feedstock for livestock. However, the regulatory mechanism of cereal endosperm and seed development is largely unknown. Polycomb complex has been shown to play a key role in the regulation...

journal_title：PLoS genetics

authors： Nallamilli BR,Zhang J,Mujahid H,Malone BM,Bridges SM,Peng Z

更新日期：2013-01-01 00:00:00

abstract：:Perennial questions of evolutionary biology can be applied to gene regulatory systems using the abundance of experimental data addressing gene regulation in a comparative context. What is the tempo (frequency, rate) and mode (way, mechanism) of transcriptional regulatory evolution? Here we synthesize the results of 23...

journal_title：PLoS genetics

authors： Gordon KL,Ruvinsky I

更新日期：2012-01-01 00:00:00

abstract：:For many genes, proper gene expression requires coordinated and dynamic interactions between multiple regulatory elements, each of which can either promote or silence transcription. In Drosophila, the complexity of the regulatory landscape is further complicated by the tight physical pairing of homologous chromosomes,...

journal_title：PLoS genetics

authors： Tian K,Henderson RE,Parker R,Brown A,Johnson JE,Bateman JR

更新日期：2019-05-10 00:00:00

abstract：:Quantitative genetic analysis has long been used to study how natural variation of genotype can influence an organism's phenotype. While most studies have focused on genetic determinants of phenotypic average, it is rapidly becoming understood that stochastic noise is genetically determined. However, it is not known h...

journal_title：PLoS genetics

authors： Jimenez-Gomez JM,Corwin JA,Joseph B,Maloof JN,Kliebenstein DJ

更新日期：2011-09-01 00:00:00

abstract：:Sensitivity to pain varies considerably between individuals and is known to be heritable. Increased sensitivity to experimental pain is a risk factor for developing chronic pain, a common and debilitating but poorly understood symptom. To understand mechanisms underlying pain sensitivity and to search for rare gene va...

journal_title：PLoS genetics

authors： Williams FM,Scollen S,Cao D,Memari Y,Hyde CL,Zhang B,Sidders B,Ziemek D,Shi Y,Harris J,Harrow I,Dougherty B,Malarstig A,McEwen R,Stephens JC,Patel K,Menni C,Shin SY,Hodgkiss D,Surdulescu G,He W,Jin X,McMahon S

更新日期：2012-01-01 00:00:00

abstract：:Genetic variants in genome-wide association studies (GWAS) are tested for disease association mostly using simple regression, one variant at a time. Standard approaches to improve power in detecting disease-associated SNPs use multiple regression with Bayesian variable selection in which a sparsity-enforcing prior on ...

journal_title：PLoS genetics

authors： Banerjee S,Zeng L,Schunkert H,Söding J

更新日期：2018-12-31 00:00:00

abstract：:Conjugation is one mechanism for intra- and inter-species horizontal gene transfer among bacteria. Conjugative elements have been instrumental in many bacterial species to face the threat of antibiotics, by allowing them to evolve and adapt to these hostile conditions. Conjugative plasmids are transferred to plasmidle...

journal_title：PLoS genetics

authors： Baharoglu Z,Bikard D,Mazel D

更新日期：2010-10-21 00:00:00

abstract：:Hypermutation of the immunoglobulin (Ig) genes requires Activation Induced cytidine Deaminase (AID) and transcription, but it remains unclear why other transcribed genes of B cells do not mutate. We describe a reporter transgene crippled by hypermutation when inserted into or near the Ig light chain (IgL) locus of the...

journal_title：PLoS genetics

authors： Blagodatski A,Batrak V,Schmidl S,Schoetz U,Caldwell RB,Arakawa H,Buerstedde JM

更新日期：2009-01-01 00:00:00

abstract：:There is increasing evidence that non-coding macroRNAs are major elements for silencing imprinted genes, but their mechanism of action is poorly understood. Within the imprinted Gnas cluster on mouse chromosome 2, Nespas is a paternally expressed macroRNA that arises from an imprinting control region and runs antisens...

journal_title：PLoS genetics

authors： Williamson CM,Ball ST,Dawson C,Mehta S,Beechey CV,Fray M,Teboul L,Dear TN,Kelsey G,Peters J

更新日期：2011-03-01 00:00:00

abstract：:70 kDa heat shock proteins (Hsp70) are essential chaperones of the protein quality control network; vital for cellular fitness and longevity. The four cytosolic Hsp70's in yeast, Ssa1-4, are thought to be functionally redundant but the absence of Ssa1 and Ssa2 causes a severe reduction in cellular reproduction and acc...

journal_title：PLoS genetics

authors： Andersson R,Eisele-Bürger AM,Hanzén S,Vielfort K,Öling D,Eisele F,Johansson G,Gustafsson T,Kvint K,Nyström T

更新日期：2021-01-11 00:00:00

abstract：:H1 linker histones facilitate higher-order chromatin folding and are essential for mammalian development. To achieve high-resolution mapping of H1 variants H1d and H1c in embryonic stem cells (ESCs), we have established a knock-in system and shown that the N-terminally tagged H1 proteins are functionally interchangeab...

journal_title：PLoS genetics

authors： Cao K,Lailler N,Zhang Y,Kumar A,Uppal K,Liu Z,Lee EK,Wu H,Medrzycki M,Pan C,Ho PY,Cooper GP Jr,Dong X,Bock C,Bouhassira EE,Fan Y

更新日期：2013-01-01 00:00:00

abstract：:Intercellular communication mediated by gap junction (GJ) proteins is indispensable during embryogenesis, tissue regeneration and wound healing. Here we report functional analysis of a gap junction protein, Innexin 2 (Inx2), in cell type specification during Drosophila oogenesis. Our data reveal a novel involvement of...

journal_title：PLoS genetics

authors： Sahu A,Ghosh R,Deshpande G,Prasad M

更新日期：2017-01-23 00:00:00

abstract：:The Drosophila genes spalt major (salm) and spalt-related (salr) encode Zn-finger transcription factors regulated by the Decapentaplegic (Dpp) signalling pathway in the wing imaginal disc. The function of these genes is required for cell survival and proliferation in the central region of the wing disc, and also for v...

journal_title：PLoS genetics

authors： Organista MF,Martín M,de Celis JM,Barrio R,López-Varea A,Esteban N,Casado M,de Celis JF

更新日期：2015-08-04 00:00:00

abstract：:Blood vessels are vital to sustain life in all vertebrates. While it is known that mural cells (pericytes and smooth muscle cells) regulate vascular integrity, the contribution of other cell types to vascular stabilization has been largely unexplored. Using zebrafish, we identified sclerotome-derived perivascular fibr...

journal_title：PLoS genetics

authors： Rajan AM,Ma RC,Kocha KM,Zhang DJ,Huang P

更新日期：2020-10-26 00:00:00

abstract：:A fundamental step in the evolution of the visual system is the gene duplication of visual opsins and differentiation between the duplicates in absorption spectra and expression pattern in the retina. However, our understanding of the mechanism of expression differentiation is far behind that of spectral tuning of ops...

journal_title：PLoS genetics

authors： Tsujimura T,Hosoya T,Kawamura S

更新日期：2010-12-16 00:00:00

abstract：:Although significant variations in the metabolic profiles exist among different cells, little is understood in terms of genetic regulations of such cell type-specific metabolic phenotypes and nutrient requirements. While many cancer cells depend on exogenous glutamine for survival to justify the therapeutic targeting ...

journal_title：PLoS genetics

authors： Kung HN,Marks JR,Chi JT

更新日期：2011-08-01 00:00:00

abstract：:The Anaplastic Lymphoma Kinase (Alk) receptor tyrosine kinase (RTK) plays a critical role in the specification of founder cells (FCs) in the Drosophila visceral mesoderm (VM) during embryogenesis. Reporter gene and CRISPR/Cas9 deletion analysis reveals enhancer regions in and upstream of the Alk locus that influence t...

journal_title：PLoS genetics

authors： Mendoza-García P,Hugosson F,Fallah M,Higgins ML,Iwasaki Y,Pfeifer K,Wolfstetter G,Varshney G,Popichenko D,Gergen JP,Hens K,Deplancke B,Palmer RH

更新日期：2017-04-03 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：: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