The specificity and flexibility of l1 reverse transcription priming at imperfect T-tracts.

abstract：:Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations ...

journal_title：PLoS genetics

authors： Yehia L,Ni Y,Sesock K,Niazi F,Fletcher B,Chen HJL,LaFramboise T,Eng C

更新日期：2018-04-23 00:00:00

abstract：:The DREAM (Dp/Retinoblastoma(Rb)-like/E2F/MuvB) transcriptional repressor complex acts as a gatekeeper of the mammalian cell cycle by establishing and maintaining cellular quiescence. How DREAM's three functional components, the E2F-DP heterodimer, the Rb-like pocket protein, and the MuvB subcomplex, form and function...

journal_title：PLoS genetics

authors： Goetsch PD,Garrigues JM,Strome S

更新日期：2017-11-01 00:00:00

abstract：:During neural circuit formation, most axons are guided to complex environments, coming into contact with multiple potential synaptic partners. However, it is critical that they recognize specific neurons with which to form synapses. Here, we utilize the split GFP-based marker Neuroligin-1 GFP Reconstitution Across Syn...

journal_title：PLoS genetics

authors： Varshney A,Benedetti K,Watters K,Shankar R,Tatarakis D,Coto Villa D,Magallanes K,Agenor V,Wung W,Farah F,Ali N,Le N,Pyle J,Farooqi A,Kieu Z,Bremer M,VanHoven M

更新日期：2018-05-09 00:00:00

abstract：:Cockayne syndrome (CS) is a devastating progeria most often caused by mutations in the CSB gene encoding a SWI/SNF family chromatin remodeling protein. Although all CSB mutations that cause CS are recessive, the complete absence of CSB protein does not cause CS. In addition, most CSB mutations are located beyond exon ...

journal_title：PLoS genetics

authors： Newman JC,Bailey AD,Fan HY,Pavelitz T,Weiner AM

更新日期：2008-03-21 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：:Efficient adaptation to iron starvation is an essential virulence determinant of the most common human mold pathogen, Aspergillus fumigatus. Here, we demonstrate that the cytosolic monothiol glutaredoxin GrxD plays an essential role in iron sensing in this fungus. Our studies revealed that (i) GrxD is essential for gr...

journal_title：PLoS genetics

authors： Misslinger M,Scheven MT,Hortschansky P,López-Berges MS,Heiss K,Beckmann N,Heigl T,Hermann M,Krüger T,Kniemeyer O,Brakhage AA,Haas H

更新日期：2019-09-16 00:00:00

abstract：:Resequencing is an emerging tool for identification of rare disease-associated mutations. Rare mutations are difficult to tag with SNP genotyping, as genotyping studies are designed to detect common variants. However, studies have shown that genetic heterogeneity is a probable scenario for common diseases, in which mu...

journal_title：PLoS genetics

authors： Madsen BE,Browning SR

更新日期：2009-02-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) encodes proteins essential for ATP production. Mutant variants of the mtDNA polymerase cause mutagenesis that contributes to aging, genetic diseases, and sensitivity to environmental agents. We interrogated mtDNA replication in Saccharomyces cerevisiae strains with disease-associated mutation...

journal_title：PLoS genetics

authors： Stumpf JD,Copeland WC

更新日期：2014-10-23 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：: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：: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：: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：:Pervasive natural selection can strongly influence observed patterns of genetic variation, but these effects remain poorly understood when multiple selected variants segregate in nearby regions of the genome. Classical population genetics fails to account for interference between linked mutations, which grows increasi...

journal_title：PLoS genetics

authors： Good BH,Walczak AM,Neher RA,Desai MM

更新日期：2014-03-27 00:00:00

abstract：:While several studies have investigated general properties of the genetic architecture of natural variation in gene expression, few of these have considered natural, outbreeding populations. In parallel, systems biology has established that a general feature of biological networks is that they are scale-free, renderin...

journal_title：PLoS genetics

authors： Mähler N,Wang J,Terebieniec BK,Ingvarsson PK,Street NR,Hvidsten TR

更新日期：2017-04-13 00:00:00

abstract：:New systems genetics approaches are needed to rapidly identify host genes and genetic networks that regulate complex disease outcomes. Using genetically diverse animals from incipient lines of the Collaborative Cross mouse panel, we demonstrate a greatly expanded range of phenotypes relative to classical mouse models ...

journal_title：PLoS genetics

authors： Gralinski LE,Ferris MT,Aylor DL,Whitmore AC,Green R,Frieman MB,Deming D,Menachery VD,Miller DR,Buus RJ,Bell TA,Churchill GA,Threadgill DW,Katze MG,McMillan L,Valdar W,Heise MT,Pardo-Manuel de Villena F,Baric RS

更新日期：2015-10-09 00:00:00

abstract：:Development of eye tissue is initiated by a conserved set of transcription factors termed retinal determination network (RDN). In the fruit fly Drosophila melanogaster, the zinc-finger transcription factor Glass acts directly downstream of the RDN to control identity of photoreceptor as well as non-photoreceptor cells...

journal_title：PLoS genetics

authors： Fritsch C,Bernardo-Garcia FJ,Humberg TH,Mishra AK,Miellet S,Almeida S,Frochaux MV,Deplancke B,Huber A,Sprecher SG

更新日期：2019-07-12 00:00:00

abstract：:Proteins secreted by pathogens during host colonization largely determine the outcome of pathogen-host interactions and are commonly called 'effectors'. In fungal plant pathogens, coordinated transcriptional up-regulation of effector genes is a key feature of pathogenesis and effectors are often encoded in genomic reg...

journal_title：PLoS genetics

authors： van der Does HC,Fokkens L,Yang A,Schmidt SM,Langereis L,Lukasiewicz JM,Hughes TR,Rep M

更新日期：2016-11-17 00:00:00

abstract：:Copy number expansions such as amplifications and duplications contribute to human phenotypic variation, promote molecular diversification during evolution, and drive the initiation and/or progression of various cancers. The mechanisms underlying these copy number changes are still incompletely understood, however. We...

journal_title：PLoS genetics

authors： Finn KJ,Li JJ

更新日期：2013-01-01 00:00:00

abstract：:Three closely related thermally dimorphic pathogens are causal agents of major fungal diseases affecting humans in the Americas: blastomycosis, histoplasmosis and paracoccidioidomycosis. Here we report the genome sequence and analysis of four strains of the etiological agent of blastomycosis, Blastomyces, and two spec...

journal_title：PLoS genetics

authors： Muñoz JF,Gauthier GM,Desjardins CA,Gallo JE,Holder J,Sullivan TD,Marty AJ,Carmen JC,Chen Z,Ding L,Gujja S,Magrini V,Misas E,Mitreva M,Priest M,Saif S,Whiston EA,Young S,Zeng Q,Goldman WE,Mardis ER,Taylor JW,Mc

更新日期：2015-10-06 00:00:00

abstract：:Although tumor size and lymph node involvement are the current cornerstones of breast cancer prognosis, they have not been extensively explored in relation to tumor methylation attributes in conjunction with other tumor and patient dietary and hormonal characteristics. Using primary breast tumors from 162 (AJCC stage ...

journal_title：PLoS genetics

authors： Christensen BC,Kelsey KT,Zheng S,Houseman EA,Marsit CJ,Wrensch MR,Wiemels JL,Nelson HH,Karagas MR,Kushi LH,Kwan ML,Wiencke JK

更新日期：2010-07-29 00:00:00

abstract：:We performed a genome-scale chromatin immunoprecipitation (ChIP)-chip comparison of two modifications (trimethylation of lysine 9 [H3me3K9] and trimethylation of lysine 27 [H3me3K27]) of histone H3 in Ntera2 testicular carcinoma cells and in three different anatomical sources of primary human fibroblasts. We found tha...

journal_title：PLoS genetics

authors： O'Geen H,Squazzo SL,Iyengar S,Blahnik K,Rinn JL,Chang HY,Green R,Farnham PJ

更新日期：2007-06-01 00:00:00

abstract：:Human neutrophil antigen 2 (HNA-2) deficiency is a common phenotype as 3-5% humans do not express HNA-2. HNA-2 is coded by CD177 gene that associates with human myeloproliferative disorders. HNA-2 deficient individuals are prone to produce HNA-2 alloantibodies that cause a number of disorders including transfusion-rel...

journal_title：PLoS genetics

authors： Li Y,Mair DC,Schuller RM,Li L,Wu J

更新日期：2015-05-29 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：:Biogenesis of mammalian mitochondrial ribosomes requires a concerted maturation of both the small (SSU) and large subunit (LSU). We demonstrate here that the m(5)C methyltransferase NSUN4, which forms a complex with MTERF4, is essential in mitochondrial ribosomal biogenesis as mitochondrial translation is abolished in...

journal_title：PLoS genetics

authors： Metodiev MD,Spåhr H,Loguercio Polosa P,Meharg C,Becker C,Altmueller J,Habermann B,Larsson NG,Ruzzenente B

更新日期：2014-02-06 00:00:00

abstract：:Integration of genome-wide association studies (GWAS) and expression quantitative trait loci (eQTL) studies is needed to improve our understanding of the biological mechanisms underlying GWAS hits, and our ability to identify therapeutic targets. Gene-level association methods such as PrediXcan can prioritize candidat...

journal_title：PLoS genetics

authors： Barbeira AN,Pividori M,Zheng J,Wheeler HE,Nicolae DL,Im HK

更新日期：2019-01-22 00:00:00

abstract：:Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to ongoing disease progression through an affected individual's life with Huntington's disease or myotonic dystrophy. Broad ranges of repeat instability arise between individuals with expanded repeats, suggesting the existence of ...

journal_title：PLoS genetics

authors： Tomé S,Manley K,Simard JP,Clark GW,Slean MM,Swami M,Shelbourne PF,Tillier ER,Monckton DG,Messer A,Pearson CE

更新日期：2013-01-01 00:00:00

abstract：:Identifying regions of positive selection in genomic data remains a challenge in population genetics. Most current approaches rely on comparing values of summary statistics calculated in windows. We present an approach termed SURFDAWave, which translates measures of genetic diversity calculated in genomic windows to f...

journal_title：PLoS genetics

authors： Mughal MR,Koch H,Huang J,Chiaromonte F,DeGiorgio M

更新日期：2020-08-27 00:00:00

abstract：:We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the autosomal recessive polycystic kidney disease nephronophthisis. Here we examine the functional role of CEP164 in nephronophthisis-related ciliopathies and concomitant fibrosis. Live cell imaging of RPE-FU...

journal_title：PLoS genetics

authors： Slaats GG,Ghosh AK,Falke LL,Le Corre S,Shaltiel IA,van de Hoek G,Klasson TD,Stokman MF,Logister I,Verhaar MC,Goldschmeding R,Nguyen TQ,Drummond IA,Hildebrandt F,Giles RH

更新日期：2014-10-23 00:00:00

abstract：:MicroRNAs (miRNAs) are small, non-coding RNAs that play essential roles in plant growth, development, and stress response. We conducted a genome-wide survey of maize miRNA genes, characterizing their structure, expression, and evolution. Computational approaches based on homology and secondary structure modeling ident...

journal_title：PLoS genetics

authors： Zhang L,Chia JM,Kumari S,Stein JC,Liu Z,Narechania A,Maher CA,Guill K,McMullen MD,Ware D

更新日期：2009-11-01 00:00:00

abstract：:Dancing, which is integrally related to music, likely has its origins close to the birth of Homo sapiens, and throughout our history, dancing has been universally practiced in all societies. We hypothesized that there are differences among individuals in aptitude, propensity, and need for dancing that may partially be...

journal_title：PLoS genetics

authors： Bachner-Melman R,Dina C,Zohar AH,Constantini N,Lerer E,Hoch S,Sella S,Nemanov L,Gritsenko I,Lichtenberg P,Granot R,Ebstein RP

更新日期：2005-09-01 00:00:00