Coronary heart disease-associated variation in TCF21 disrupts a miR-224 binding site and miRNA-mediated regulation.

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：:Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disease with high penetrance, manifest by brain hemorrhages in young normotensive adults. In Iceland, this condition is caused by the L68Q mutation in the cystatin C gene, with contemporary carriers reaching an average age of only 30 years. Here...

journal_title：PLoS genetics

authors： Palsdottir A,Helgason A,Palsson S,Bjornsson HT,Bragason BT,Gretarsdottir S,Thorsteinsdottir U,Olafsson E,Stefansson K

更新日期：2008-06-20 00:00:00

abstract：:ATM and ATR are two redundant checkpoint kinases essential for the stable maintenance of telomeres in eukaryotes. Previous studies have established that MRN (Mre11-Rad50-Nbs1) and ATRIP (ATR Interacting Protein) interact with ATM and ATR, respectively, and recruit their partner kinases to sites of DNA damage. Here, we...

journal_title：PLoS genetics

authors： Subramanian L,Nakamura TM

更新日期：2010-02-05 00:00:00

abstract：:Genome-wide association studies (GWAS) have now been conducted for hundreds of phenotypes of relevance to human health. Many such GWAS involve multiple closely-related phenotypes collected on the same samples. However, the vast majority of these GWAS have been analyzed using simple univariate analyses, which consider ...

journal_title：PLoS genetics

authors： Turchin MC,Stephens M

更新日期：2019-10-09 00:00:00

abstract：:Iran, despite its size, geographic location and past cultural influence, has largely been a blind spot for human population genetic studies. With only sparse genetic information on the Iranian population available, we pursued its genome-wide and geographic characterization based on 1021 samples from eleven ethnic grou...

journal_title：PLoS genetics

authors： Mehrjoo Z,Fattahi Z,Beheshtian M,Mohseni M,Poustchi H,Ardalani F,Jalalvand K,Arzhangi S,Mohammadi Z,Khoshbakht S,Najafi F,Nikuei P,Haddadi M,Zohrehvand E,Oladnabi M,Mohammadzadeh A,Jafari MH,Akhtarkhavari T,Gooshki ES

更新日期：2019-09-24 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：: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：:Dominant mutations in the alpha-B crystallin (CryAB) gene are responsible for a number of inherited human disorders, including cardiomyopathy, skeletal muscle myopathy, and cataracts. The cellular mechanisms of disease pathology for these disorders are not well understood. Among recent advances is that the disease sta...

journal_title：PLoS genetics

authors： Xie HB,Cammarato A,Rajasekaran NS,Zhang H,Suggs JA,Lin HC,Bernstein SI,Benjamin IJ,Golic KG

更新日期：2013-06-01 00:00:00

abstract：:Light and microRNAs (miRNAs) are key external and internal signals for plant development, respectively. However, the relationship between the light signaling and miRNA biogenesis pathways remains unknown. Here we found that miRNA processer proteins DCL1 and HYL1 interact with a basic helix-loop-helix (bHLH) transcript...

journal_title：PLoS genetics

authors： Sun Z,Li M,Zhou Y,Guo T,Liu Y,Zhang H,Fang Y

更新日期：2018-03-09 00:00:00

abstract：:In understanding the etiology of breast cancer, the contributions of both genetic and environmental risk factors are further complicated by the impact of breast developmental stage. Specifically, the time period ranging from childhood to young adulthood represents a critical developmental window in a woman's life when...

journal_title：PLoS genetics

authors： Henning AN,Haag JD,Smits BM,Gould MN

更新日期：2016-08-18 00:00:00

abstract：:Dynamic activity of signaling pathways, such as Notch, is vital to achieve correct development and homeostasis. However, most studies assess output many hours or days after initiation of signaling, once the outcome has been consolidated. Here we analyze genome-wide changes in transcript levels, binding of the Notch pa...

journal_title：PLoS genetics

authors： Housden BE,Fu AQ,Krejci A,Bernard F,Fischer B,Tavaré S,Russell S,Bray SJ

更新日期：2013-01-01 00:00:00

abstract：:Cell cycle control is modified at meiosis compared to mitosis, because two divisions follow a single DNA replication event. Cyclin-dependent kinases (CDKs) promote progression through both meiosis and mitosis, and a central regulator of their activity is the APC/C (Anaphase Promoting Complex/Cyclosome) that is especia...

journal_title：PLoS genetics

authors： Cromer L,Heyman J,Touati S,Harashima H,Araou E,Girard C,Horlow C,Wassmann K,Schnittger A,De Veylder L,Mercier R

更新日期：2012-01-01 00:00:00

abstract：:The unfolded protein response (UPR) is an adaptive signaling pathway utilized to sense and alleviate the stress of protein folding in the endoplasmic reticulum (ER). In mammals, the UPR is mediated through three proximal sensors PERK/PEK, IRE1, and ATF6. PERK/PEK is a protein kinase that phosphorylates the alpha subun...

journal_title：PLoS genetics

authors： Shen X,Ellis RE,Sakaki K,Kaufman RJ

更新日期：2005-09-01 00:00:00

abstract：:The presence of 5-methylcytidine (m(5)C) in tRNA and rRNA molecules of a wide variety of organisms was first observed more than 40 years ago. However, detection of this modification was limited to specific, abundant, RNA species, due to the usage of low-throughput methods. To obtain a high resolution, systematic, and ...

journal_title：PLoS genetics

authors： Edelheit S,Schwartz S,Mumbach MR,Wurtzel O,Sorek R

更新日期：2013-06-01 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：:We have exploited the high selectivity of the homing endonuclease I-PpoI for the X-linked Anopheles gambiae 28S ribosomal genes to selectively target X chromosome carrying spermatozoa. Our data demonstrated that in heterozygous males, the expression of I-PpoI in the testes induced a strong bias toward Y chromosome-car...

journal_title：PLoS genetics

authors： Windbichler N,Papathanos PA,Crisanti A

更新日期：2008-12-01 00:00:00

abstract：:In plants, multiple detached tissues are capable of forming a pluripotent cell mass, termed callus, when cultured on media containing appropriate plant hormones. Recent studies demonstrated that callus resembles the root-tip meristem, even if it is derived from aerial organs. This finding improves our understanding of...

journal_title：PLoS genetics

authors： He C,Chen X,Huang H,Xu L

更新日期：2012-08-01 00:00:00

abstract：:Class-switch recombination (CSR), induced by activation-induced cytidine deaminase (AID), can be divided into two phases: DNA cleavage of the switch (S) regions and the joining of the cleaved ends of the different S regions. Here, we show that the DSIF complex (Spt4 and Spt5), a transcription elongation factor, is req...

journal_title：PLoS genetics

authors： Stanlie A,Begum NA,Akiyama H,Honjo T

更新日期：2012-01-01 00:00:00

abstract：:Cytotoxic T-lymphocyte associated protein 4 (CTLA4) is a negative regulator of T-cell proliferation. Polymorphisms in CTLA4 have been inconsistently associated with susceptibility to rheumatoid arthritis (RA) in populations of European ancestry but have not been examined in African Americans. The prevalence of RA in m...

journal_title：PLoS genetics

authors： Kelley JM,Hughes LB,Faggard JD,Danila MI,Crawford MH,Edberg Y,Padilla MA,Tiwari HK,Westfall AO,Alarcón GS,Conn DL,Jonas BL,Callahan LF,Smith EA,Brasington RD,Allison DB,Kimberly RP,Moreland LW,Edberg JC,Bridges SL J

更新日期：2009-03-01 00:00:00

abstract：:Interpreting the impact of human genome variation on phenotype is challenging. The functional effect of protein-coding variants is often predicted using sequence conservation and population frequency data, however other factors are likely relevant. We hypothesized that variants in protein post-translational modificati...

journal_title：PLoS genetics

authors： Reimand J,Wagih O,Bader GD

更新日期：2015-01-22 00:00:00

abstract：:Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutation...

journal_title：PLoS genetics

authors： Muggenthaler MM,Chowdhury B,Hasan SN,Cross HE,Mark B,Harlalka GV,Patton MA,Ishida M,Behr ER,Sharma S,Zahka K,Faqeih E,Blakley B,Jackson M,Lees M,Dolinsky V,Cross L,Stanier P,Salter C,Baple EL,Alkuraya FS,Crosby

更新日期：2017-01-12 00:00:00

abstract：:Nodal and Activin are morphogens of the TGFbeta superfamily of signaling molecules that direct differential cell fate decisions in a dose- and distance-dependent manner. During early embryonic development the Nodal/Activin pathway is responsible for the specification of mesoderm, endoderm, node, and mesendoderm. In co...

journal_title：PLoS genetics

authors： Lee KL,Lim SK,Orlov YL,Yit le Y,Yang H,Ang LT,Poellinger L,Lim B

更新日期：2011-06-01 00:00:00

abstract：:Topoisomerase 3α, a class I topoisomerase, consists of a TOPRIM domain, an active centre and a variable number of zinc-finger domains (ZFDs) at the C-terminus, in multicellular organisms. Whereas the functions of the TOPRIM domain and the active centre are known, the specific role of the ZFDs is still obscure. In cont...

journal_title：PLoS genetics

authors： Dorn A,Röhrig S,Papp K,Schröpfer S,Hartung F,Knoll A,Puchta H

更新日期：2018-09-17 00:00:00

abstract：:Hexavalent chromium [Cr(VI)] damages DNA and causes cancer, but it is unclear which DNA damage responses (DDRs) most critically protect cells from chromate toxicity. Here, genome-wide quantitative functional profiling, DDR measurements and genetic interaction assays in Schizosaccharomyces pombe reveal a chromate toxic...

journal_title：PLoS genetics

authors： Ganguly A,Guo L,Sun L,Suo F,Du LL,Russell P

更新日期：2018-08-27 00:00:00

abstract：:Type 2 diabetes (T2D) is more prevalent in African Americans than in Europeans. However, little is known about the genetic risk in African Americans despite the recent identification of more than 70 T2D loci primarily by genome-wide association studies (GWAS) in individuals of European ancestry. In order to investigat...

journal_title：PLoS genetics

authors： Ng MC,Shriner D,Chen BH,Li J,Chen WM,Guo X,Liu J,Bielinski SJ,Yanek LR,Nalls MA,Comeau ME,Rasmussen-Torvik LJ,Jensen RA,Evans DS,Sun YV,An P,Patel SR,Lu Y,Long J,Armstrong LL,Wagenknecht L,Yang L,Snively BM,

更新日期：2014-08-07 00:00:00

abstract：:Genome-wide association studies typically target inherited autosomal variants, but less studied genetic mechanisms can play a role in complex disease. Sex-linked variants aside, three genetic phenomena can induce differential risk in maternal versus paternal lineages of affected individuals: 1. maternal effects, refle...

journal_title：PLoS genetics

authors： Weinberg CR,Shi M,DeRoo LA,Taylor JA,Sandler DP,Umbach DM

更新日期：2014-03-20 00:00:00

abstract：:A variety of pathologies are associated with exposure to supraphysiological concentrations of essential metals and to non-essential metals and metalloids. The molecular mechanisms linking metal exposure to human pathologies have not been clearly defined. To address these gaps in our understanding of the molecular biol...

journal_title：PLoS genetics

authors： Jin YH,Dunlap PE,McBride SJ,Al-Refai H,Bushel PR,Freedman JH

更新日期：2008-04-25 00:00:00

abstract：:There is increasing evidence that non-coding macroRNAs are major elements for silencing imprinted genes, but their mechanism of action is poorly understood. Within the imprinted Gnas cluster on mouse chromosome 2, Nespas is a paternally expressed macroRNA that arises from an imprinting control region and runs antisens...

journal_title：PLoS genetics

authors： Williamson CM,Ball ST,Dawson C,Mehta S,Beechey CV,Fray M,Teboul L,Dear TN,Kelsey G,Peters J

更新日期：2011-03-01 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：:The human pathogens N. gonorrhoeae and N. meningitidis display robust intra- and interstrain glycan diversity associated with their O-linked protein glycosylation (pgl) systems. In an effort to better understand the evolution and function of protein glycosylation operating there, we aimed to determine if other human-r...

journal_title：PLoS genetics

authors： Hadjineophytou C,Anonsen JH,Wang N,Ma KC,Viburiene R,Vik Å,Harrison OB,Maiden MCJ,Grad YH,Koomey M

更新日期：2019-12-23 00:00:00