Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach.

abstract：:Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme whose function is important for the biosynthesis of purines, pyrimidines, and pyridines. Importantly, while missense mutations of PRPS1 have been identified in neurological disorders such as Arts syndrome, how they contribute to neuropathogenesis...

journal_title：PLoS genetics

authors： Delos Santos K,Kim M,Yergeau C,Jean S,Moon NS

更新日期：2019-09-05 00:00:00

abstract：:Anti-tumor necrosis factor alpha (anti-TNF) biologic therapy is a widely used treatment for rheumatoid arthritis (RA). It is unknown why some RA patients fail to respond adequately to anti-TNF therapy, which limits the development of clinical biomarkers to predict response or new drugs to target refractory cases. To u...

journal_title：PLoS genetics

authors： Cui J,Stahl EA,Saevarsdottir S,Miceli C,Diogo D,Trynka G,Raj T,Mirkov MU,Canhao H,Ikari K,Terao C,Okada Y,Wedrén S,Askling J,Yamanaka H,Momohara S,Taniguchi A,Ohmura K,Matsuda F,Mimori T,Gupta N,Kuchroo M,Morg

更新日期：2013-03-01 00:00:00

abstract：:The genetic background of complex diseases is proposed to consist of several low-penetrance risk loci. Addressing this complexity likely requires both large sample size and simultaneous analysis of different predisposing variants. We investigated the role of four thrombosis genes: coagulation factor V (F5), intercellu...

journal_title：PLoS genetics

authors： Auro K,Alanne M,Kristiansson K,Silander K,Kuulasmaa K,Salomaa V,Peltonen L,Perola M

更新日期：2007-07-01 00:00:00

abstract：:Genetic disruption of the dystrophin complex produces muscular dystrophy characterized by a fragile muscle plasma membrane leading to excessive muscle degeneration. Two genetic modifiers of Duchenne Muscular Dystrophy implicate the transforming growth factor β (TGFβ) pathway, osteopontin encoded by the SPP1 gene and l...

journal_title：PLoS genetics

authors： Quattrocelli M,Capote J,Ohiri JC,Warner JL,Vo AH,Earley JU,Hadhazy M,Demonbreun AR,Spencer MJ,McNally EM

更新日期：2017-10-24 00:00:00

abstract：:High glucose diets are unhealthy, although the mechanisms by which elevated glucose is harmful to whole animal physiology are not well understood. In Caenorhabditis elegans, high glucose shortens lifespan, while chemically inflicted glucose restriction promotes longevity. We investigated the impact of glucose metaboli...

journal_title：PLoS genetics

authors： Onken B,Kalinava N,Driscoll M

更新日期：2020-08-25 00:00:00

abstract：:Fragile X syndrome (FXS) is a form of inherited mental retardation in humans that results from expansion of a CGG repeat in the Fmr1 gene. Recent studies suggest a role of astrocytes in neuronal development. However, the mechanisms involved in the regulation process of astrocytes from FXS remain unclear. In this study...

journal_title：PLoS genetics

authors： Yang Q,Feng B,Zhang K,Guo YY,Liu SB,Wu YM,Li XQ,Zhao MG

更新日期：2012-01-01 00:00:00

abstract：:Anaplasma phagocytophilum is an emerging pathogen that causes human granulocytic anaplasmosis. Infection with this zoonotic pathogen affects cell function in both vertebrate host and the tick vector, Ixodes scapularis. Global tissue-specific response and apoptosis signaling pathways were characterized in I. scapularis...

journal_title：PLoS genetics

authors： Ayllón N,Villar M,Galindo RC,Kocan KM,Šíma R,López JA,Vázquez J,Alberdi P,Cabezas-Cruz A,Kopáček P,de la Fuente J

更新日期：2015-03-27 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1004496.]. ...

journal_title：PLoS genetics

authors： Schwartze VU,Winter S,Shelest E,Marcet-Houben M,Horn F,Wehner S,Linde J,Valiante V,Sammeth M,Riege K,Nowrousian M,Kaerger K,Jacobsen ID,Marz M,Brakhage AA,Gabaldón T,Böcker S,Voigt K

更新日期：2016-12-05 00:00:00

abstract：:Long interspersed nuclear element-1s (LINE-1s, or L1s) are an active family of retrotransposable elements that continue to mutate mammalian genomes. Despite the large contribution of L1 to mammalian genome evolution, we do not know where active L1 particles (particles in the process of retrotransposition) are located ...

journal_title：PLoS genetics

authors： Horn AV,Celic I,Dong C,Martirosyan I,Han JS

更新日期：2017-06-06 00:00:00

abstract：:Seam cells in Caenorhabditis elegans provide a paradigm for the stem cell mode of division, with the ability to both self-renew and produce daughters that differentiate. The transcription factor RNT-1 and its DNA binding partner BRO-1 (homologues of the mammalian cancer-associated stem cell regulators RUNX and CBFβ, r...

journal_title：PLoS genetics

authors： Brabin C,Appleford PJ,Woollard A

更新日期：2011-08-01 00:00:00

abstract：:Human FTO gene variants are associated with body mass index and type 2 diabetes. Because the obesity-associated SNPs are intronic, it is unclear whether changes in FTO expression or splicing are the cause of obesity or if regulatory elements within intron 1 influence upstream or downstream genes. We tested the idea th...

journal_title：PLoS genetics

authors： Church C,Lee S,Bagg EA,McTaggart JS,Deacon R,Gerken T,Lee A,Moir L,Mecinović J,Quwailid MM,Schofield CJ,Ashcroft FM,Cox RD

更新日期：2009-08-01 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：:Genotoxic agents that cause double-strand breaks (DSBs) often generate damage at the break termini. Processing enzymes, including nucleases and polymerases, must remove damaged bases and/or add new bases before completion of repair. Artemis is a nuclease involved in mammalian nonhomologous end joining (NHEJ), but in S...

journal_title：PLoS genetics

authors： Tseng SF,Gabriel A,Teng SC

更新日期：2008-04-25 00:00:00

abstract：:High-altitude hypoxia (reduced inspired oxygen tension due to decreased barometric pressure) exerts severe physiological stress on the human body. Two high-altitude regions where humans have lived for millennia are the Andean Altiplano and the Tibetan Plateau. Populations living in these regions exhibit unique circula...

journal_title：PLoS genetics

authors： Bigham A,Bauchet M,Pinto D,Mao X,Akey JM,Mei R,Scherer SW,Julian CG,Wilson MJ,López Herráez D,Brutsaert T,Parra EJ,Moore LG,Shriver MD

更新日期：2010-09-09 00:00:00

abstract：:Fibroblasts are ubiquitous mesenchymal cells with many vital functions during development, tissue repair, and disease. Fibroblasts from different anatomic sites have distinct and characteristic gene expression patterns, but the principles that govern their molecular specialization are poorly understood. Spatial organi...

journal_title：PLoS genetics

authors： Rinn JL,Bondre C,Gladstone HB,Brown PO,Chang HY

更新日期：2006-07-01 00:00:00

abstract：:Introduction of DNA sequences into the genome often results in homology-dependent gene silencing in organisms as diverse as plants, fungi, flies, nematodes, and mammals. We previously showed in Cryptococcus neoformans that a repeat transgene array can induce gene silencing at a high frequency during mating (∼50%), but...

journal_title：PLoS genetics

authors： Wang X,Wang P,Sun S,Darwiche S,Idnurm A,Heitman J

更新日期：2012-01-01 00:00:00

abstract：:A robust, bistable switch regulates the fluctuations between wakefulness and natural sleep as well as those between wakefulness and anesthetic-induced unresponsiveness. We previously provided experimental evidence for the existence of a behavioral barrier to transitions between these states of arousal, which we call n...

journal_title：PLoS genetics

authors： Joiner WJ,Friedman EB,Hung HT,Koh K,Sowcik M,Sehgal A,Kelz MB

更新日期：2013-01-01 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：:NF-κB is a key transcription factor regulating the expression of inflammatory responsive genes. How NF-κB binds to naked DNA templates is well documented, but how it interacts with chromatin is far from being clear. Here we used a combination of UV laser footprinting, hydroxyl footprinting and electrophoretic mobility...

journal_title：PLoS genetics

authors： Lone IN,Shukla MS,Charles Richard JL,Peshev ZY,Dimitrov S,Angelov D

更新日期：2013-01-01 00:00:00

abstract：:In flat-faced dog breeds, air resistance caused by skull conformation is believed to be a major determinant of Brachycephalic Obstructive Airway Syndrome (BOAS). The clinical presentation of BOAS is heterogeneous, suggesting determinants independent of skull conformation contribute to airway disease. Norwich Terriers,...

journal_title：PLoS genetics

authors： Marchant TW,Dietschi E,Rytz U,Schawalder P,Jagannathan V,Hadji Rasouliha S,Gurtner C,Waldvogel AS,Harrington RS,Drögemüller M,Kidd J,Ostrander EA,Warr A,Watson M,Argyle D,Ter Haar G,Clements DN,Leeb T,Schoenebeck JJ

更新日期：2019-05-16 00:00:00

abstract：:Among the rare colonizers of heavy-metal rich toxic soils, Arabidopsis halleri is a compelling model extremophile, physiologically distinct from its sister species A. lyrata, and A. thaliana. Naturally selected metal hypertolerance and extraordinarily high leaf metal accumulation in A. halleri both require Heavy Metal...

journal_title：PLoS genetics

authors： Hanikenne M,Kroymann J,Trampczynska A,Bernal M,Motte P,Clemens S,Krämer U

更新日期：2013-01-01 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：:Alternative splicing generates protein diversity and allows for post-transcriptional gene regulation. Estimates suggest that 10% of the genes in Caenorhabditis elegans undergo alternative splicing. We constructed a splicing-sensitive microarray to detect alternative splicing for 352 cassette exons and tested for chang...

journal_title：PLoS genetics

authors： Barberan-Soler S,Zahler AM

更新日期：2008-02-29 00:00:00

abstract：:Central questions in regenerative biology include how stem cells are maintained and how they transition from self-renewal to differentiation. Germline stem cells (GSCs) in Caeno-rhabditis elegans provide a tractable in vivo model to address these questions. In this system, Notch signaling and PUF RNA binding proteins,...

journal_title：PLoS genetics

authors： Shin H,Haupt KA,Kershner AM,Kroll-Conner P,Wickens M,Kimble J

更新日期：2017-12-12 00:00:00

abstract：:One of the striking findings of comparative developmental genetics was that expression patterns of core transcription factors are extraordinarily conserved in bilaterians. However, it remains unclear whether cis-regulatory elements of their target genes also exhibit common signatures associated with conserved embryoni...

journal_title：PLoS genetics

authors： Haeussler M,Jaszczyszyn Y,Christiaen L,Joly JS

更新日期：2010-04-15 00:00:00

abstract：:Hyperostosis Cranialis Interna (HCI) is a rare bone disorder characterized by progressive intracranial bone overgrowth at the skull. Here we identified by whole-exome sequencing a dominant mutation (L441R) in SLC39A14 (ZIP14). We show that L441R ZIP14 is no longer trafficked towards the plasma membrane and excessively...

journal_title：PLoS genetics

authors： Hendrickx G,Borra VM,Steenackers E,Yorgan TA,Hermans C,Boudin E,Waterval JJ,Jansen IDC,Aydemir TB,Kamerling N,Behets GJ,Plumeyer C,D'Haese PC,Busse B,Everts V,Lammens M,Mortier G,Cousins RJ,Schinke T,Stokroos RJ,M

更新日期：2018-04-05 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：:Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated the phenotypic effect of activating...

journal_title：PLoS genetics

authors： Meng L,Person RE,Huang W,Zhu PJ,Costa-Mattioli M,Beaudet AL

更新日期：2013-01-01 00:00:00

abstract：:Homolog pairing, which plays a critical role in meiosis, poses a potential risk if it occurs in inappropriate tissues or between nonallelic sites, as it can lead to changes in gene expression, chromosome entanglements, and loss-of-heterozygosity due to mitotic recombination. This is particularly true in Drosophila, wh...

journal_title：PLoS genetics

authors： Joyce EF,Apostolopoulos N,Beliveau BJ,Wu CT

更新日期：2013-01-01 00:00:00

abstract：:Rare individuals with inactivating mutations in the Huntington's disease gene (HTT) exhibit variable abnormalities that imply essential HTT roles during organ development. Here we report phenotypes produced when increasingly severe hypomorphic mutations in the murine HTT orthologue Htt, (HdhneoQ20, HdhneoQ50, HdhneoQ1...

journal_title：PLoS genetics

authors： Murthy V,Tebaldi T,Yoshida T,Erdin S,Calzonetti T,Vijayvargia R,Tripathi T,Kerschbamer E,Seong IS,Quattrone A,Talkowski ME,Gusella JF,Georgopoulos K,MacDonald ME,Biagioli M

更新日期：2019-03-21 00:00:00