Mutation in MRPS34 compromises protein synthesis and causes mitochondrial dysfunction.

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：:The mechanism underlying immune system recognition of different types of pathogens has been extensively studied over the past few decades; however, the mechanism by which healthy self-tissue evades an attack by its own immune system is less well-understood. Here, we established an autoimmune model of melanotic mass fo...

journal_title：PLoS genetics

authors： Kim MJ,Choe KM

更新日期：2014-10-16 00:00:00

abstract：:The mechanisms involved in the recognition of microbial pathogens and activation of the immune system have been extensively studied. However, the mechanisms involved in the recovery phase of an infection are incompletely characterized at both the cellular and physiological levels. Here, we establish a Caenorhabditis e...

journal_title：PLoS genetics

authors： Head B,Aballay A

更新日期：2014-10-23 00:00:00

abstract：:Mutation of the DNA molecule is one of the most fundamental processes in biology. In this study, we use 283 parent-offspring trios to estimate the rate of mutation for both single nucleotide variants (SNVs) and short length variants (indels) in humans and examine the mutation process. We found 17812 SNVs, correspondin...

journal_title：PLoS genetics

authors： Besenbacher S,Sulem P,Helgason A,Helgason H,Kristjansson H,Jonasdottir A,Jonasdottir A,Magnusson OT,Thorsteinsdottir U,Masson G,Kong A,Gudbjartsson DF,Stefansson K

更新日期：2016-11-15 00:00:00

abstract：:Significant interest has emerged in mapping genetic susceptibility for complex traits through whole-genome association studies. These studies rely on the extent of association, i.e., linkage disequilibrium (LD), between single nucleotide polymorphisms (SNPs) across the human genome. LD describes the nonrandom associat...

journal_title：PLoS genetics

authors： Eberle MA,Rieder MJ,Kruglyak L,Nickerson DA

更新日期：2006-09-08 00:00:00

abstract：:The ability of specific neurons to regenerate their axons after injury is governed by cell-intrinsic regeneration pathways. However, the signaling pathways that orchestrate axon regeneration are not well understood. In Caenorhabditis elegans, initiation of axon regeneration is positively regulated by SVH-2 Met-like gr...

journal_title：PLoS genetics

authors： Hisamoto N,Nagamori Y,Shimizu T,Pastuhov SI,Matsumoto K

更新日期：2016-12-16 00:00:00

abstract：:A primary justification for dedicating substantial amounts of research funding to large-scale cancer genomics projects of both somatic and germline DNA is that the biological insights will lead to new treatment targets and strategies for cancer therapy. While it is too early to judge the success of these projects in t...

journal_title：PLoS genetics

authors： Brennan P,Wild CP

更新日期：2015-11-05 00:00:00

abstract：:The relationship between population size, inbreeding, loss of genetic variation and evolutionary potential of fitness traits is still unresolved, and large-scale empirical studies testing theoretical expectations are surprisingly scarce. Here we present a highly replicated experimental evolution setup with 120 lines o...

journal_title：PLoS genetics

authors： Ørsted M,Hoffmann AA,Sverrisdóttir E,Nielsen KL,Kristensen TN

更新日期：2019-06-12 00:00:00

abstract：:The Core Binding Factor (CBF) protein RUNX1 is a master regulator of definitive hematopoiesis, crucial for hematopoietic stem cell (HSC) emergence during ontogeny. RUNX1 also plays vital roles in adult mice, in regulating the correct specification of numerous blood lineages. Akin to the other mammalian Runx genes, Run...

journal_title：PLoS genetics

authors： Draper JE,Sroczynska P,Tsoulaki O,Leong HS,Fadlullah MZ,Miller C,Kouskoff V,Lacaud G

更新日期：2016-01-25 00:00:00

abstract：:Forward genetics screens with N-ethyl-N-nitrosourea (ENU) provide a powerful way to illuminate gene function and generate mouse models of human disease; however, the identification of causative mutations remains a limiting step. Current strategies depend on conventional mapping, so the propagation of affected mice req...

journal_title：PLoS genetics

authors： Bull KR,Rimmer AJ,Siggs OM,Miosge LA,Roots CM,Enders A,Bertram EM,Crockford TL,Whittle B,Potter PK,Simon MM,Mallon AM,Brown SD,Beutler B,Goodnow CC,Lunter G,Cornall RJ

更新日期：2013-01-01 00:00:00

abstract：:The neural crest (NC) is a vertebrate-specific cell population that exhibits remarkable multipotency. Although derived from the neural plate border (NPB) ectoderm, cranial NC (CNC) cells contribute not only to the peripheral nervous system but also to the ectomesenchymal precursors of the head skeleton. To date, the d...

journal_title：PLoS genetics

authors： Cox SG,Kim H,Garnett AT,Medeiros DM,An W,Crump JG

更新日期：2012-09-01 00:00:00

abstract：:CTP synthase is an essential enzyme that plays a key role in energy metabolism. Several independent studies have demonstrated that CTP synthase can form an evolutionarily conserved subcellular structure termed cytoophidium. In budding yeast, there are two isoforms of CTP synthase and both isoforms localize in cytoophi...

journal_title：PLoS genetics

authors： Azzam G,Liu JL

更新日期：2013-01-01 00:00:00

abstract：:The 2,2,7-trimethylguanosine (TMG) cap is one of the first identified modifications on eukaryotic RNAs. TMG, synthesized by the conserved Tgs1 enzyme, is abundantly present on snRNAs essential for pre-mRNA splicing. Results from ex vivo experiments in vertebrate cells suggested that TMG ensures nuclear localization of...

journal_title：PLoS genetics

authors： Cheng L,Zhang Y,Zhang Y,Chen T,Xu YZ,Rong YS

更新日期：2020-10-21 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified >500 common variants associated with quantitative metabolic traits, but in aggregate such variants explain at most 20-30% of the heritable component of population variation in these traits. To further investigate the impact of genotypic variation on metabolic trai...

journal_title：PLoS genetics

authors： Service SK,Teslovich TM,Fuchsberger C,Ramensky V,Yajnik P,Koboldt DC,Larson DE,Zhang Q,Lin L,Welch R,Ding L,McLellan MD,O'Laughlin M,Fronick C,Fulton LL,Magrini V,Swift A,Elliott P,Jarvelin MR,Kaakinen M,McCarthy

更新日期：2014-01-30 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：: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：:The female gametophyte of flowering plants, the embryo sac, develops within the diploid (sporophytic) tissue of the ovule. While embryo sac-expressed genes are known to be required at multiple stages of the fertilization process, the set of embryo sac-expressed genes has remained poorly defined. In particular, the set...

journal_title：PLoS genetics

authors： Jones-Rhoades MW,Borevitz JO,Preuss D

更新日期：2007-10-01 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 genetic architecture of the small and isolated Greenlandic population is advantageous for identification of novel genetic variants associated with cardio-metabolic traits. We aimed to identify genetic loci associated with body mass index (BMI), to expand the knowledge of the genetic and biological mechanisms under...

journal_title：PLoS genetics

authors： Andersen MK,Jørsboe E,Skotte L,Hanghøj K,Sandholt CH,Moltke I,Grarup N,Kern T,Mahendran Y,Søborg B,Bjerregaard P,Larsen CVL,Dahl-Petersen IK,Tiwari HK,Feenstra B,Koch A,Wiener HW,Hopkins SE,Pedersen O,Melbye M,Boy

更新日期：2020-01-24 00:00:00

abstract：:We recently showed that cassette integration and deletion in integron platforms were occurring through unconventional site-specific recombination reactions involving only the bottom strand of attC sites. The lack of sequence conservation among attC sites led us to hypothesize that sequence-independent structural recog...

journal_title：PLoS genetics

authors： Bouvier M,Ducos-Galand M,Loot C,Bikard D,Mazel D

更新日期：2009-09-01 00:00:00

abstract：:Bacteria can arrest their own growth and proliferation upon nutrient depletion and under various stressful conditions to ensure their survival. However, the molecular mechanisms responsible for suppressing growth and arresting the cell cycle under such conditions remain incompletely understood. Here, we identify post-...

journal_title：PLoS genetics

authors： Leslie DJ,Heinen C,Schramm FD,Thüring M,Aakre CD,Murray SM,Laub MT,Jonas K

更新日期：2015-07-02 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：:Systemic lupus erythematosus (SLE) is a genetically complex disease with heterogeneous clinical manifestations. A polymorphism in the STAT4 gene has recently been established as a risk factor for SLE, but the relationship with specific SLE subphenotypes has not been studied. We studied 137 SNPs in the STAT4 region gen...

journal_title：PLoS genetics

authors： Taylor KE,Remmers EF,Lee AT,Ortmann WA,Plenge RM,Tian C,Chung SA,Nititham J,Hom G,Kao AH,Demirci FY,Kamboh MI,Petri M,Manzi S,Kastner DL,Seldin MF,Gregersen PK,Behrens TW,Criswell LA

更新日期：2008-05-30 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：: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：:Genetic and epigenetic mechanisms may interact and together affect biological processes and disease development. However, most previous studies have investigated genetic and epigenetic mechanisms independently, and studies examining their interactions throughout the human genome are lacking. To identify genetic loci t...

journal_title：PLoS genetics

authors： Olsson AH,Volkov P,Bacos K,Dayeh T,Hall E,Nilsson EA,Ladenvall C,Rönn T,Ling C

更新日期：2014-11-06 00:00:00

abstract：:People who begin daily smoking at an early age are at greater risk of long-term nicotine addiction. We tested the hypothesis that associations between nicotinic acetylcholine receptor (nAChR) genetic variants and nicotine dependence assessed in adulthood will be stronger among smokers who began daily nicotine exposure...

journal_title：PLoS genetics

authors： Weiss RB,Baker TB,Cannon DS,von Niederhausern A,Dunn DM,Matsunami N,Singh NA,Baird L,Coon H,McMahon WM,Piper ME,Fiore MC,Scholand MB,Connett JE,Kanner RE,Gahring LC,Rogers SW,Hoidal JR,Leppert MF

更新日期：2008-07-11 00:00:00

abstract：:It is known that genetic variants can affect gene expression, but it is not yet completely clear through what mechanisms genetic variation mediate this expression. We therefore compared the cis-effect of single nucleotide polymorphisms (SNPs) on gene expression between blood samples from 1,240 human subjects and four ...

journal_title：PLoS genetics

authors： Fu J,Wolfs MG,Deelen P,Westra HJ,Fehrmann RS,Te Meerman GJ,Buurman WA,Rensen SS,Groen HJ,Weersma RK,van den Berg LH,Veldink J,Ophoff RA,Snieder H,van Heel D,Jansen RC,Hofker MH,Wijmenga C,Franke L

更新日期：2012-01-01 00:00:00

abstract：:While there have been studies exploring regulatory variation in one or more tissues, the complexity of tissue-specificity in multiple primary tissues is not yet well understood. We explore in depth the role of cis-regulatory variation in three human tissues: lymphoblastoid cell lines (LCL), skin, and fat. The samples ...

journal_title：PLoS genetics

authors： Nica AC,Parts L,Glass D,Nisbet J,Barrett A,Sekowska M,Travers M,Potter S,Grundberg E,Small K,Hedman AK,Bataille V,Tzenova Bell J,Surdulescu G,Dimas AS,Ingle C,Nestle FO,di Meglio P,Min JL,Wilk A,Hammond CJ,Hassa

更新日期：2011-02-03 00:00:00

abstract：:Genome-wide association studies (GWAS) have become increasingly common due to advances in technology and have permitted the identification of differences in single nucleotide polymorphism (SNP) alleles that are associated with diseases. However, while typical GWAS analysis techniques treat markers individually, comple...

journal_title：PLoS genetics

authors： Braun R,Buetow K

更新日期：2011-06-01 00:00:00