Lymphotoxin-alpha gene and risk of myocardial infarction in 6,928 cases and 2,712 controls in the ISIS case-control study.

abstract：:Retinoblastoma (pRb) is a multifunctional regulator, which was likely present in the last common ancestor of all eukaryotes. The Arabidopsis pRb homolog RETINOBLASTOMA RELATED 1 (RBR1), similar to its animal counterparts, controls not only cell proliferation but is also implicated in developmental decisions, stress re...

journal_title：PLoS genetics

authors： Bouyer D,Heese M,Chen P,Harashima H,Roudier F,Grüttner C,Schnittger A

更新日期：2018-11-30 00:00:00

abstract：:The bacterium Neisseria meningitidis is commonly found harmlessly colonising the mucosal surfaces of the human nasopharynx. Occasionally strains can invade host tissues causing septicaemia and meningitis, making the bacterium a major cause of morbidity and mortality in both the developed and developing world. The spec...

journal_title：PLoS genetics

authors： Bentley SD,Vernikos GS,Snyder LA,Churcher C,Arrowsmith C,Chillingworth T,Cronin A,Davis PH,Holroyd NE,Jagels K,Maddison M,Moule S,Rabbinowitsch E,Sharp S,Unwin L,Whitehead S,Quail MA,Achtman M,Barrell B,Saunders NJ

更新日期：2007-02-16 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：:Jacob, the protein encoded by the Nsmf gene, is involved in synapto-nuclear signaling and docks an N-Methyl-D-Aspartate receptor (NMDAR)-derived signalosome to nuclear target sites like the transcription factor cAMP-response-element-binding protein (CREB). Several reports indicate that mutations in NSMF are related to...

journal_title：PLoS genetics

authors： Spilker C,Nullmeier S,Grochowska KM,Schumacher A,Butnaru I,Macharadze T,Gomes GM,Yuanxiang P,Bayraktar G,Rodenstein C,Geiseler C,Kolodziej A,Lopez-Rojas J,Montag D,Angenstein F,Bär J,D'Hanis W,Roskoden T,Mikhaylova M

更新日期：2016-03-15 00:00:00

abstract：:This work analyses the genetic variation and evolutionary patterns of recessive resistance loci involved in matching-allele (MA) host-pathogen interactions, focusing on the pvr2 resistance gene to potyviruses of the wild pepper Capsicum annuum glabriusculum (chiltepin). Chiltepin grows in a variety of wild habitats in...

journal_title：PLoS genetics

authors： Poulicard N,Pacios LF,Gallois JL,Piñero D,García-Arenal F

更新日期：2016-08-04 00:00:00

abstract：:Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. Importantly, its role in human development and disease is so far largely unexplored. Here, we provide evidence that biallelic Integrator Complex Subunit ...

journal_title：PLoS genetics

authors： Oegema R,Baillat D,Schot R,van Unen LM,Brooks A,Kia SK,Hoogeboom AJM,Xia Z,Li W,Cesaroni M,Lequin MH,van Slegtenhorst M,Dobyns WB,de Coo IFM,Verheijen FW,Kremer A,van der Spek PJ,Heijsman D,Wagner EJ,Fornerod M,Ma

更新日期：2017-05-25 00:00:00

abstract：:Genetic surveillance of malaria parasites supports malaria control programmes, treatment guidelines and elimination strategies. Surveillance studies often pose questions about malaria parasite ancestry (e.g. how antimalarial resistance has spread) and employ statistical methods that characterise parasite population st...

journal_title：PLoS genetics

authors： Watson JA,Taylor AR,Ashley EA,Dondorp A,Buckee CO,White NJ,Holmes CC

更新日期：2020-10-09 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：:Double strand breaks (DSBs) and interstrand crosslinks (ICLs) are toxic DNA lesions that can be repaired through multiple pathways, some of which involve shared proteins. One of these proteins, DNA Polymerase θ (Pol θ), coordinates a mutagenic DSB repair pathway named microhomology-mediated end joining (MMEJ) and is a...

journal_title：PLoS genetics

authors： Beagan K,Armstrong RL,Witsell A,Roy U,Renedo N,Baker AE,Schärer OD,McVey M

更新日期：2017-05-25 00:00:00

abstract：:ATP-dependent chromatin remodelers control DNA access for transcription, recombination, and other processes. Acf1 (also known as BAZ1A in mammals) is a defining subunit of the conserved ISWI-family chromatin remodelers ACF and CHRAC, first purified over 15 years ago from Drosophila melanogaster embryos. Much is known ...

journal_title：PLoS genetics

authors： Dowdle JA,Mehta M,Kass EM,Vuong BQ,Inagaki A,Egli D,Jasin M,Keeney S

更新日期：2013-11-01 00:00:00

abstract：:The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome sequencing, we identified two recessive loss-of-function MNS1 mutations in...

journal_title：PLoS genetics

authors： Ta-Shma A,Hjeij R,Perles Z,Dougherty GW,Abu Zahira I,Letteboer SJF,Antony D,Darwish A,Mans DA,Spittler S,Edelbusch C,Cindrić S,Nöthe-Menchen T,Olbrich H,Stuhlmann F,Aprea I,Pennekamp P,Loges NT,Breuer O,Shaag A,Re

更新日期：2018-08-27 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：:Examination of the human transcriptome reveals higher levels of RNA editing than in any other organism tested to date. This is indicative of extensive double-stranded RNA (dsRNA) formation within the human transcriptome. Most of the editing sites are located in the primate-specific retrotransposed element called Alu. ...

journal_title：PLoS genetics

authors： Lev-Maor G,Ram O,Kim E,Sela N,Goren A,Levanon EY,Ast G

更新日期：2008-09-26 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：:All living organisms exist in a precarious state of homeostasis that requires constant maintenance. A wide variety of stresses, including hypoxia, heat, and infection by pathogens perpetually threaten to imbalance this state. Organisms use a battery of defenses to mitigate damage and restore normal function. Previousl...

journal_title：PLoS genetics

authors： Tjahjono E,Kirienko NV

更新日期：2017-06-29 00:00:00

abstract：:The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11....

journal_title：PLoS genetics

authors： Lacaria M,Saha P,Potocki L,Bi W,Yan J,Girirajan S,Burns B,Elsea S,Walz K,Chan L,Lupski JR,Gu W

更新日期：2012-01-01 00:00:00

abstract：:Mating and gametogenesis are two essential components of animal reproduction. Gametogenesis must be modulated by the need for gametes, yet little is known of how mating, a process that utilizes gametes, may modulate the process of gametogenesis. Here, we report that mating stimulates female germline stem cell (GSC) pr...

journal_title：PLoS genetics

authors： Ameku T,Niwa R

更新日期：2016-06-16 00:00:00

abstract：:The genome of the fission yeast Schizosaccharomyces pombe encodes 17 kinases that are essential for cell growth. These include the cell-cycle regulator Cdc2, as well as several kinases that coordinate cell growth, polarity, and morphogenesis during the cell cycle. In this study, we further characterized another of the...

journal_title：PLoS genetics

authors： Eckert D,Andrée N,Razanau A,Zock-Emmenthal S,Lützelberger M,Plath S,Schmidt H,Guerra-Moreno A,Cozzuto L,Ayté J,Käufer NF

更新日期：2016-01-05 00:00:00

abstract：:Sirtuins are NAD⁺-dependent deacetylases, lipoamidases, and ADP-ribosyltransferases that link cellular metabolism to multiple intracellular pathways that influence processes as diverse as cell survival, longevity, and cancer growth. Sirtuins influence the extent of neuronal death in stroke. However, different sirtuins...

journal_title：PLoS genetics

authors： Sangaletti R,D'Amico M,Grant J,Della-Morte D,Bianchi L

更新日期：2017-08-18 00:00:00

abstract：:Detailed information about stage-specific changes in gene expression is crucial for the understanding of the gene regulatory networks underlying development. Here, we describe the global gene expression dynamics during early flower development, a key process in the life cycle of a plant, during which floral patterning...

journal_title：PLoS genetics

authors： Wellmer F,Alves-Ferreira M,Dubois A,Riechmann JL,Meyerowitz EM

更新日期：2006-07-01 00:00:00

abstract：:The lipopolysaccharide O-antigen structure expressed by the European Helicobacter pylori model strain G27 encompasses a trisaccharide, an intervening glucan-heptan and distal Lewis antigens that promote immune escape. However, several gaps still remain in the corresponding biosynthetic pathway. Here, systematic mutage...

journal_title：PLoS genetics

authors： Li H,Marceau M,Yang T,Liao T,Tang X,Hu R,Xie Y,Tang H,Tay A,Shi Y,Shen Y,Yang T,Pi X,Lamichhane B,Luo Y,Debowski AW,Nilsson HO,Haslam SM,Mulloy B,Dell A,Stubbs KA,Marshall BJ,Benghezal M

更新日期：2019-11-20 00:00:00

abstract：:DNA methylation is an ancient molecular modification found in most eukaryotes. In plants, DNA methylation is not only critical for transcriptionally silencing transposons, but can also affect phenotype by altering expression of protein coding genes. The extent of its contribution to phenotypic diversity over evolution...

journal_title：PLoS genetics

authors： Seymour DK,Koenig D,Hagmann J,Becker C,Weigel D

更新日期：2014-11-13 00:00:00

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：:Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene de...

journal_title：PLoS genetics

authors： Radner FP,Marrakchi S,Kirchmeier P,Kim GJ,Ribierre F,Kamoun B,Abid L,Leipoldt M,Turki H,Schempp W,Heilig R,Lathrop M,Fischer J

更新日期：2013-06-01 00:00:00

abstract：:The Drosophila testis is a well-established system for studying stem cell self-renewal and competition. In this tissue, the niche supports two stem cell populations, germ line stem cells (GSCs), which give rise to sperm, and somatic stem cells called cyst stem cells (CySCs), which support GSCs and their descendants. I...

journal_title：PLoS genetics

authors： Amoyel M,Anderson J,Suisse A,Glasner J,Bach EA

更新日期：2016-01-25 00:00:00

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：:Fpr1 (FK506-sensitive proline rotamase 1), a protein of the FKBP12 (FK506-binding protein 12 kDa) family in Saccharomyces cerevisiae, is a primary target for the immunosuppressive agents FK506 and rapamycin. Fpr1 inhibits calcineurin and TORC1 (target of rapamycin complex 1) when bound to FK506 and rapamycin, respecti...

journal_title：PLoS genetics

authors： Kasahara K,Nakayama R,Shiwa Y,Kanesaki Y,Ishige T,Yoshikawa H,Kokubo T

更新日期：2020-06-30 00:00:00

abstract：:Allele age has long been a focus of population genetic research, primarily because it can be an important clue to the fitness effects of an allele. By virtue of their effects on fitness, alleles under directional selection are expected to be younger than neutral alleles of the same frequency. We developed a new coales...

journal_title：PLoS genetics

authors： Platt A,Pivirotto A,Knoblauch J,Hey J

更新日期：2019-08-19 00:00:00

abstract：:The liver possesses a remarkable regenerative capacity based partly on the ability of hepatocytes to re-enter the cell cycle and divide to replace damaged cells. This capability is substantially reduced upon chronic damage, but it is not clear if this is a cause or consequence of liver disease. Here, we investigate wh...

journal_title：PLoS genetics

authors： Dewhurst MR,Ow JR,Zafer G,van Hul NKM,Wollmann H,Bisteau X,Brough D,Choi H,Kaldis P

更新日期：2020-11-04 00:00:00

abstract：:An important goal in molecular evolution is to understand the genetic and physical mechanisms by which protein functions evolve and, in turn, to characterize how a protein's physical architecture influences its evolution. Here we dissect the mechanisms for an evolutionary shift in function in the mollusk ortholog of t...

journal_title：PLoS genetics

authors： Bridgham JT,Keay J,Ortlund EA,Thornton JW

更新日期：2014-01-01 00:00:00