The small GTPase RAB-35 defines a third pathway that is required for the recognition and degradation of apoptotic cells.

abstract：:Disruption of gene regulation by sequence variation in non-coding regions of the genome is now recognised as a significant cause of human disease and disease susceptibility. Sequence variants in cis-regulatory elements (CREs), the primary determinants of spatio-temporal gene regulation, can alter transcription factor ...

journal_title：PLoS genetics

authors： Bhatia S,Gordon CT,Foster RG,Melin L,Abadie V,Baujat G,Vazquez MP,Amiel J,Lyonnet S,van Heyningen V,Kleinjan DA

更新日期：2015-06-01 00:00:00

abstract：:To identify genetic loci influencing bone accrual, we performed a genome-wide association scan for total-body bone mineral density (TB-BMD) variation in 2,660 children of different ethnicities. We discovered variants in 7q31.31 associated with BMD measurements, with the lowest P = 4.1 × 10(-11) observed for rs917727 w...

journal_title：PLoS genetics

authors： Medina-Gomez C,Kemp JP,Estrada K,Eriksson J,Liu J,Reppe S,Evans DM,Heppe DH,Vandenput L,Herrera L,Ring SM,Kruithof CJ,Timpson NJ,Zillikens MC,Olstad OK,Zheng HF,Richards JB,St Pourcain B,Hofman A,Jaddoe VW,Smith G

更新日期：2012-07-01 00:00:00

abstract：:Gene regulatory information guides development and shapes the course of evolution. To test conservation of gene regulation within the phylum Nematoda, we compared the functions of putative cis-regulatory sequences of four sets of orthologs (unc-47, unc-25, mec-3 and elt-2) from distantly-related nematode species. Thes...

journal_title：PLoS genetics

authors： Gordon KL,Arthur RK,Ruvinsky I

更新日期：2015-05-28 00:00:00

abstract：:Fanconi Anemia (FA) is a rare autosomal recessive disorder characterized by hypersensitivity to inter-strand crosslinks (ICLs). FANCD2, a central factor of the FA pathway, is essential for the repair of double strand breaks (DSBs) generated during fork collapse at ICLs. While lesions different from ICLs can also trigg...

journal_title：PLoS genetics

authors： Federico MB,Vallerga MB,Radl A,Paviolo NS,Bocco JL,Di Giorgio M,Soria G,Gottifredi V

更新日期：2016-01-14 00:00:00

abstract：:The lineage factor Foxp3 is essential for the development and maintenance of regulatory T cells, but little is known about the mechanisms involved. Here, we demonstrate that an N-terminal proline-rich interaction region is crucial for Foxp3's function. Subdomains within this key region link Foxp3 to several independen...

journal_title：PLoS genetics

authors： Xie X,Stubbington MJ,Nissen JK,Andersen KG,Hebenstreit D,Teichmann SA,Betz AG

更新日期：2015-06-24 00:00:00

abstract：:The conserved protein kinase Sch9 is a central player in the nutrient-induced signaling network in yeast, although only few of its direct substrates are known. We now provide evidence that Sch9 controls the vacuolar proton pump (V-ATPase) to maintain cellular pH homeostasis and ageing. A synthetic sick phenotype arise...

journal_title：PLoS genetics

authors： Wilms T,Swinnen E,Eskes E,Dolz-Edo L,Uwineza A,Van Essche R,Rosseels J,Zabrocki P,Cameroni E,Franssens V,De Virgilio C,Smits GJ,Winderickx J

更新日期：2017-06-12 00:00:00

abstract：:DNA damage observed during plant immune responses is reported to be an intrinsic component of plant immunity. However, other immune responses may suppress DNA damage to maintain host genome integrity. Here, we show that immunity-related DNA damage can be abrogated by preventing cell death triggered by Nucleotide-bindi...

journal_title：PLoS genetics

authors： Rodriguez E,Chevalier J,El Ghoul H,Voldum-Clausen K,Mundy J,Petersen M

更新日期：2018-02-20 00:00:00

abstract：:Domestic dog breeds exhibit remarkable morphological variations that result from centuries of artificial selection and breeding. Identifying the genetic changes that contribute to these variations could provide critical insights into the molecular basis of tissue and organismal morphogenesis. Bulldogs, French Bulldogs...

journal_title：PLoS genetics

authors： Mansour TA,Lucot K,Konopelski SE,Dickinson PJ,Sturges BK,Vernau KL,Choi S,Stern JA,Thomasy SM,Döring S,Verstraete FJM,Johnson EG,York D,Rebhun RB,Ho HH,Brown CT,Bannasch DL

更新日期：2018-12-06 00:00:00

abstract：:In humans, the absence or irreversible loss of hair cells, the sensory mechanoreceptors in the cochlea, accounts for a large majority of acquired and congenital hearing disorders. In the auditory and vestibular neuroepithelia of the inner ear, hair cells are accompanied by another cell type called supporting cells. Th...

journal_title：PLoS genetics

authors： Behra M,Bradsher J,Sougrat R,Gallardo V,Allende ML,Burgess SM

更新日期：2009-04-01 00:00:00

abstract：:Epigenetic reprogramming is a critical event in the generation of induced pluripotent stem cells (iPSCs). Here, we determined the DNA methylation profiles of 22 human iPSC lines derived from five different cell types (human endometrium, placental artery endothelium, amnion, fetal lung fibroblast, and menstrual blood c...

journal_title：PLoS genetics

authors： Nishino K,Toyoda M,Yamazaki-Inoue M,Fukawatase Y,Chikazawa E,Sakaguchi H,Akutsu H,Umezawa A

更新日期：2011-05-01 00:00:00

abstract：:Dishevelled (Dvl) proteins are important signaling components of both the canonical beta-catenin/Wnt pathway, which controls cell proliferation and patterning, and the planar cell polarity (PCP) pathway, which coordinates cell polarity within a sheet of cells and also directs convergent extension cell (CE) movements t...

journal_title：PLoS genetics

authors： Etheridge SL,Ray S,Li S,Hamblet NS,Lijam N,Tsang M,Greer J,Kardos N,Wang J,Sussman DJ,Chen P,Wynshaw-Boris A

更新日期：2008-11-01 00:00:00

abstract：:Ubiquitylation is fundamental for the regulation of the stability and function of p53 and c-Myc. The E3 ligase Pirh2 has been reported to polyubiquitylate p53 and to mediate its proteasomal degradation. Here, using Pirh2 deficient mice, we report that Pirh2 is important for the in vivo regulation of p53 stability in r...

journal_title：PLoS genetics

authors： Hakem A,Bohgaki M,Lemmers B,Tai E,Salmena L,Matysiak-Zablocki E,Jung YS,Karaskova J,Kaustov L,Duan S,Madore J,Boutros P,Sheng Y,Chesi M,Bergsagel PL,Perez-Ordonez B,Mes-Masson AM,Penn L,Squire J,Chen X,Jurisica I

更新日期：2011-11-01 00:00:00

abstract：:The genetic origin of human skin pigmentation remains an open question in biology. Several skin disorders and diseases originate from mutations in conserved pigmentation genes, including albinism, vitiligo, and melanoma. Teleosts possess the capacity to modify their pigmentation to adapt to their environmental backgro...

journal_title：PLoS genetics

authors： Madelaine R,Ngo KJ,Skariah G,Mourrain P

更新日期：2020-12-10 00:00:00

abstract：:Genome-wide transcription start site (TSS) profiles of the enterobacteria Escherichia coli and Klebsiella pneumoniae were experimentally determined through modified 5' RACE followed by deep sequencing of intact primary mRNA. This identified 3,746 and 3,143 TSSs for E. coli and K. pneumoniae, respectively. Experimental...

journal_title：PLoS genetics

authors： Kim D,Hong JS,Qiu Y,Nagarajan H,Seo JH,Cho BK,Tsai SF,Palsson BØ

更新日期：2012-01-01 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

abstract：:In addition to their protein coding function, exons can also serve as transcriptional enhancers. Mutations in these exonic-enhancers (eExons) could alter both protein function and transcription. However, the functional consequence of eExon mutations is not well known. Here, using massively parallel reporter assays, we...

journal_title：PLoS genetics

authors： Birnbaum RY,Patwardhan RP,Kim MJ,Findlay GM,Martin B,Zhao J,Bell RJ,Smith RP,Ku AA,Shendure J,Ahituv N

更新日期：2014-10-23 00:00:00

abstract：:Type-III protein secretion systems are utilized by gram-negative pathogens to secrete building blocks of the bacterial flagellum, virulence effectors from the cytoplasm into host cells, and structural subunits of the needle complex. The flagellar type-III secretion apparatus utilizes both the energy of the proton moti...

journal_title：PLoS genetics

authors： Erhardt M,Mertens ME,Fabiani FD,Hughes KT

更新日期：2014-11-13 00:00:00

abstract：:The requirements for oocyte meiotic cytokinesis during polar body extrusion are not well understood. In particular, the relationship between the oocyte meiotic spindle and polar body contractile ring dynamics remains largely unknown. We have used live cell imaging and spindle assembly defective mutants lacking the fun...

journal_title：PLoS genetics

authors： Schlientz AJ,Bowerman B

更新日期：2020-10-07 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified chromosomal loci that affect risk of coronary heart disease (CHD) independent of classical risk factors. One such association signal has been identified at 6q23.2 in both Caucasians and East Asians. The lead CHD-associated polymorphism in this region, rs12190287, ...

journal_title：PLoS genetics

authors： Miller CL,Haas U,Diaz R,Leeper NJ,Kundu RK,Patlolla B,Assimes TL,Kaiser FJ,Perisic L,Hedin U,Maegdefessel L,Schunkert H,Erdmann J,Quertermous T,Sczakiel G

更新日期：2014-03-27 00:00:00

abstract：:Hydrolysis of ATP by partition ATPases, although considered a key step in the segregation mechanism that assures stable inheritance of plasmids, is intrinsically very weak. The cognate centromere-binding protein (CBP), together with DNA, stimulates the ATPase to hydrolyse ATP and to undertake the relocation that incit...

journal_title：PLoS genetics

authors： Ah-Seng Y,Rech J,Lane D,Bouet JY

更新日期：2013-01-01 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：:For many decades, Salmonella enterica has been subdivided by serological properties into serovars or further subdivided for epidemiological tracing by a variety of diagnostic tests with higher resolution. Recently, it has been proposed that so-called eBurst groups (eBGs) based on the alleles of seven housekeeping gene...

journal_title：PLoS genetics

authors： Alikhan NF,Zhou Z,Sergeant MJ,Achtman M

更新日期：2018-04-05 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：:Plants utilize an innate immune system to protect themselves from disease. While many molecular components of plant innate immunity resemble the innate immunity of animals, plants also have evolved a number of truly unique defense mechanisms, particularly at the physiological level. Plant's flexible developmental prog...

journal_title：PLoS genetics

authors： Patharkar OR,Gassmann W,Walker JC

更新日期：2017-12-18 00:00:00

abstract：:Species barriers, expressed as hybrid inviability and sterility, are often due to epistatic interactions between divergent loci from two lineages. Theoretical models indicate that the strength, direction, and complexity of these genetic interactions can strongly affect the expression of interspecific reproductive isol...

journal_title：PLoS genetics

authors： Guerrero RF,Muir CD,Josway S,Moyle LC

更新日期：2017-06-12 00:00:00

abstract：:The extent that both positive and negative selection vary across different portions of plant genomes remains poorly understood. Here, we sequence whole genomes of 13 Capsella grandiflora individuals and quantify the amount of selection across the genome. Using an estimate of the distribution of fitness effects, we sho...

journal_title：PLoS genetics

authors： Williamson RJ,Josephs EB,Platts AE,Hazzouri KM,Haudry A,Blanchette M,Wright SI

更新日期：2014-09-25 00:00:00

abstract：:Lymphotoxin-alpha (LTA) is a pro-inflammatory cytokine that plays an important role in the immune system and local inflammatory response. LTA is expressed in atherosclerotic plaques and has been implicated in the pathogenesis of atherosclerosis and coronary heart disease (CHD). Polymorphisms in the gene encoding lymph...

journal_title：PLoS genetics

authors： Clarke R,Xu P,Bennett D,Lewington S,Zondervan K,Parish S,Palmer A,Clark S,Cardon L,Peto R,Lathrop M,Collins R,International Study of Infarct Survival (ISIS) Collaborators.

更新日期：2006-07-01 00:00:00

abstract：:How do adapting populations navigate the tensions between the costs of gene expression and the benefits of gene products to optimize the levels of many genes at once? Here we combined independently-arising beneficial mutations that altered enzyme levels in the central metabolism of Methylobacterium extorquens to uncov...

journal_title：PLoS genetics

authors： Chou HH,Delaney NF,Draghi JA,Marx CJ

更新日期：2014-02-27 00:00:00

abstract：:Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have metabolic disturbances including insulin resistance and dysregulation of glucose homeostasis. PCOS is diagnosed with two different sets of diagnostic...

journal_title：PLoS genetics

authors： Day F,Karaderi T,Jones MR,Meun C,He C,Drong A,Kraft P,Lin N,Huang H,Broer L,Magi R,Saxena R,Laisk T,Urbanek M,Hayes MG,Thorleifsson G,Fernandez-Tajes J,Mahajan A,Mullin BH,Stuckey BGA,Spector TD,Wilson SG,Good

更新日期：2018-12-19 00:00:00

abstract：:Zygotic gene expression programs control cell differentiation in vertebrate development. In Xenopus, these programs are initiated by local induction of regulatory genes through maternal signaling activities in the wake of zygotic genome activation (ZGA) at the midblastula transition (MBT). These programs lay down the ...

journal_title：PLoS genetics

authors： Wagner G,Singhal N,Nicetto D,Straub T,Kremmer E,Rupp RAW

更新日期：2017-05-12 00:00:00