Genetic determinants of long-term changes in blood lipid concentrations: 10-year follow-up of the GLACIER study.

abstract：:Because of the stochastic way in which lineages sort during speciation, gene trees may differ in topology from each other and from species trees. Surprisingly, assuming that genetic lineages follow a coalescent model of within-species evolution, we find that for any species tree topology with five or more species, the...

journal_title：PLoS genetics

authors： Degnan JH,Rosenberg NA

更新日期：2006-05-01 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

abstract：:Seed development in angiosperms is dependent on the interplay among different transcriptional programs operating in the embryo, the endosperm, and the maternally-derived seed coat. In angiosperms, the embryo and the endosperm are products of double fertilization during which the two pollen sperm cells fuse with the eg...

journal_title：PLoS genetics

authors： Shirzadi R,Andersen ED,Bjerkan KN,Gloeckle BM,Heese M,Ungru A,Winge P,Koncz C,Aalen RB,Schnittger A,Grini PE

更新日期：2011-02-01 00:00:00

abstract：:Skin pigment patterns are important, being under strong selection for multiple roles including camouflage and UV protection. Pigment cells underlying these patterns form from adult pigment stem cells (APSCs). In zebrafish, APSCs derive from embryonic neural crest cells, but sit dormant until activated to produce pigme...

journal_title：PLoS genetics

authors： Camargo-Sosa K,Colanesi S,Müller J,Schulte-Merker S,Stemple D,Patton EE,Kelsh RN

更新日期：2019-02-27 00:00:00

abstract：:Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*...

journal_title：PLoS genetics

authors： Simon M,Richard EM,Wang X,Shahzad M,Huang VH,Qaiser TA,Potluri P,Mahl SE,Davila A,Nazli S,Hancock S,Yu M,Gargus J,Chang R,Al-Sheqaih N,Newman WG,Abdenur J,Starr A,Hegde R,Dorn T,Busch A,Park E,Wu J,Schwenzer

更新日期：2015-03-25 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：:Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2), plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response. We demonstrate that senataxin is essential for spermatogenesis and that it functions at ...

journal_title：PLoS genetics

authors： Becherel OJ,Yeo AJ,Stellati A,Heng EY,Luff J,Suraweera AM,Woods R,Fleming J,Carrie D,McKinney K,Xu X,Deng C,Lavin MF

更新日期：2013-04-01 00:00:00

abstract：:Genome reduction is typical of obligate symbionts. In cellular organelles, this reduction partly reflects transfer of ancestral bacterial genes to the host genome, but little is known about gene transfer in other obligate symbioses. Aphids harbor anciently acquired obligate mutualists, Buchnera aphidicola (Gammaproteo...

journal_title：PLoS genetics

authors： Nikoh N,McCutcheon JP,Kudo T,Miyagishima SY,Moran NA,Nakabachi A

更新日期：2010-02-26 00:00:00

abstract：:Race, specifically African ancestry, and obesity are important risk factors for uterine fibroids, and likely interact to provide the right conditions for fibroid growth. However, existing studies largely focus on the main-effects rather than their interaction. Here, we firstly provide evidence for interaction between ...

journal_title：PLoS genetics

authors： Giri A,Edwards TL,Hartmann KE,Torstenson ES,Wellons M,Schreiner PJ,Velez Edwards DR

更新日期：2017-07-17 00:00:00

abstract：:Recent studies in population of European ancestry have shown that 30% ~ 50% of heritability for human complex traits such as height and body mass index, and common diseases such as schizophrenia and rheumatoid arthritis, can be captured by common SNPs and that genetic variation attributed to chromosomes are in proport...

journal_title：PLoS genetics

authors： Yang J,Lee T,Kim J,Cho MC,Han BG,Lee JY,Lee HJ,Cho S,Kim H

更新日期：2013-01-01 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：:Patients with neonatal severe hyperparathyroidism (NSHPT) are homozygous for the calcium-sensing receptor (CaR) mutation and have very high circulating PTH, abundant parathyroid hyperplasia, and severe life-threatening hypercalcemia. Mice with homozygous deletion of CaR mimic the syndrome of NSHPT. To determine effect...

journal_title：PLoS genetics

authors： Liu J,Lv F,Sun W,Tao C,Ding G,Karaplis A,Brown E,Goltzman D,Miao D

更新日期：2011-09-01 00:00:00

abstract：:Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each repeat. Unaffected individuals generally have more than 10 repeats a...

journal_title：PLoS genetics

authors： Krom YD,Thijssen PE,Young JM,den Hamer B,Balog J,Yao Z,Maves L,Snider L,Knopp P,Zammit PS,Rijkers T,van Engelen BG,Padberg GW,Frants RR,Tawil R,Tapscott SJ,van der Maarel SM

更新日期：2013-04-01 00:00:00

abstract：:Mimivirus and Megavirus are the best characterized representatives of an expanding new family of giant viruses infecting Acanthamoeba. Their most distinctive features, megabase-sized genomes carried in particles of size comparable to that of small bacteria, fill the gap between the viral and cellular worlds. These gia...

journal_title：PLoS genetics

authors： Jeudy S,Abergel C,Claverie JM,Legendre M

更新日期：2012-01-01 00:00:00

abstract：:Smc5/6, a member of the conserved SMC family of complexes, is essential for growth in most organisms. Its exact functions in a mitotic cell cycle are controversial, as chronic Smc5/6 loss-of-function alleles produce varying phenotypes. To circumvent this issue, we acutely depleted Smc5/6 in budding yeast and determine...

journal_title：PLoS genetics

authors： Peng XP,Lim S,Li S,Marjavaara L,Chabes A,Zhao X

更新日期：2018-01-23 00:00:00

abstract：:Small heat shock proteins (sHsps) are a conserved class of ATP-independent chaperones that bind to aggregation-prone polypeptides at stress conditions. sHsps encage these polypeptides in assemblies, shielding them from further aggregation. To facilitate their subsequent solubilization and refolding by Hsp70 (DnaK) and...

journal_title：PLoS genetics

authors： Obuchowski I,Piróg A,Stolarska M,Tomiczek B,Liberek K

更新日期：2019-10-25 00:00:00

abstract：:The use of autozygosity as a mapping tool in the search for autosomal recessive disease genes is well established. We hypothesized that autozygosity not only unmasks the recessiveness of disease causing variants, but can also reveal natural knockouts of genes with less obvious phenotypic consequences. To test this hyp...

journal_title：PLoS genetics

authors： Alsalem AB,Halees AS,Anazi S,Alshamekh S,Alkuraya FS

更新日期：2013-01-01 00:00:00

abstract：:Diet is a crucial determinant of organismal biology; interactions between the host, its diet, and its microbiota are critical to determining the health of an organism. A variety of genetic and biochemical means were used to assay stress sensitivity in C. elegans reared on two standard laboratory diets: E. coli OP50, t...

journal_title：PLoS genetics

authors： Revtovich AV,Lee R,Kirienko NV

更新日期：2019-03-13 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：:Phenotypic variance heterogeneity across genotypes at a single nucleotide polymorphism (SNP) may reflect underlying gene-environment (G×E) or gene-gene interactions. We modeled variance heterogeneity for blood lipids and BMI in up to 44,211 participants and investigated relationships between variance effects (Pv), G×E...

journal_title：PLoS genetics

authors： Shungin D,Deng WQ,Varga TV,Luan J,Mihailov E,Metspalu A,GIANT Consortium.,Morris AP,Forouhi NG,Lindgren C,Magnusson PKE,Pedersen NL,Hallmans G,Chu AY,Justice AE,Graff M,Winkler TW,Rose LM,Langenberg C,Cupples LA,R

更新日期：2017-06-14 00:00:00

abstract：:We previously reported that TR2 and TR4 orphan nuclear receptors bind to direct repeat (DR) elements in the ε- and γ-globin promoters, and act as molecular anchors for the recruitment of epigenetic corepressors of the multifaceted DRED complex, thereby leading to ε- and γ-globin transcriptional repression during defin...

journal_title：PLoS genetics

authors： Shi L,Sierant MC,Gurdziel K,Zhu F,Cui S,Kolodziej KE,Strouboulis J,Guan Y,Tanabe O,Lim KC,Engel JD

更新日期：2014-05-08 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：:[This corrects the article DOI: 10.1371/journal.pgen.1004936.]. ...

journal_title：PLoS genetics

authors： Feng B,Liu C,de Oliveira MV,Intorne AC,Li B,Babilonia K,de Souza Filho GA,Shan L,He P

更新日期：2016-09-09 00:00:00

abstract：:Despite the well-documented role of remote enhancers in controlling developmental gene expression, the mechanisms that allocate enhancers to genes are poorly characterized. Here, we investigate the cis-regulatory organization of the locus containing the Tfap2c and Bmp7 genes in vivo, using a series of engineered chrom...

journal_title：PLoS genetics

authors： Tsujimura T,Klein FA,Langenfeld K,Glaser J,Huber W,Spitz F

更新日期：2015-01-08 00:00:00

abstract：:Codon usage bias affects protein translation because tRNAs that recognize synonymous codons differ in their abundance. Although the current dogma states that tRNA expression is exclusively regulated by intrinsic control elements (A- and B-box sequences), we revealed, using a reporter that monitors the levels of indivi...

journal_title：PLoS genetics

authors： Sagi D,Rak R,Gingold H,Adir I,Maayan G,Dahan O,Broday L,Pilpel Y,Rechavi O

更新日期：2016-08-25 00:00:00

abstract：:Genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants associated with various phenotypes, but together they explain only a fraction of heritability, suggesting many variants have yet to be discovered. Recently it has been recognized that incorporating functional info...

journal_title：PLoS genetics

authors： Dong X,Su YR,Barfield R,Bien SA,He Q,Harrison TA,Huyghe JR,Keku TO,Lindor NM,Schafmayer C,Chan AT,Gruber SB,Jenkins MA,Kooperberg C,Peters U,Hsu L

更新日期：2020-08-24 00:00:00

abstract：:Salt stress is an important environmental factor that significantly limits crop productivity worldwide. Studies on responses of plants to salt stress in recent years have identified novel signaling pathways and have been at the forefront of plant stress biology and plant biology in general. Thus far, research on salt ...

journal_title：PLoS genetics

authors： Guan Q,Wu J,Yue X,Zhang Y,Zhu J

更新日期：2013-08-01 00:00:00

abstract：:The bacterial cell wall, which is comprised of a mesh of polysaccharide strands crosslinked via peptide bridges (peptidoglycan, PG), is critical for maintenance of cell shape and survival. PG assembly is mediated by a variety of Penicillin Binding Proteins (PBP) whose fundamental activities have been characterized in ...

journal_title：PLoS genetics

authors： Dörr T,Lam H,Alvarez L,Cava F,Davis BM,Waldor MK

更新日期：2014-06-19 00:00:00

abstract：:Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80%) but its pathophysiology is unclear. We an...

journal_title：PLoS genetics

authors： Kiando SR,Tucker NR,Castro-Vega LJ,Katz A,D'Escamard V,Tréard C,Fraher D,Albuisson J,Kadian-Dodov D,Ye Z,Austin E,Yang ML,Hunker K,Barlassina C,Cusi D,Galan P,Empana JP,Jouven X,Gimenez-Roqueplo AP,Bruneval P,Hyun

更新日期：2016-10-28 00:00:00

abstract：:Studies of the severely pancytopenic scat mouse model first demonstrated the crucial role of RASA3, a dual RAS and RAP GTPase activating protein (GAP), in hematopoiesis. RASA3 is required for survival in utero; germline deletion is lethal at E12.5-13.5 due to severe hemorrhage. Here, conditional deletion in hematopoie...

journal_title：PLoS genetics

authors： Robledo RF,Ciciotte SL,Graber JH,Zhao Y,Lambert AJ,Gwynn B,Maki NJ,Brindley EC,Hartman E,Blanc L,Peters LL

更新日期：2020-12-28 00:00:00