A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.

abstract：:The Hippo pathway regulates organ size, stem cell proliferation and tumorigenesis in adult organs. Whether the Hippo pathway influences establishment of stem cell niche size to accommodate changes in organ size, however, has received little attention. Here, we ask whether Hippo signaling influences the number of stem ...

journal_title：PLoS genetics

authors： Sarikaya DP,Extavour CG

更新日期：2015-02-02 00:00:00

abstract：:The cerebral cortex is a specialized region of the brain that processes cognitive, motor, somatosensory, auditory, and visual functions. Its characteristic architecture and size is dependent upon the number of neurons generated during embryogenesis and has been postulated to be governed by symmetric versus asymmetric ...

journal_title：PLoS genetics

authors： Sakai D,Dixon J,Dixon MJ,Trainor PA

更新日期：2012-01-01 00:00:00

abstract：:The number of recombination events per meiosis varies extensively among individuals. This recombination phenotype differs between female and male, and also among individuals of each gender. In this study, we used high-density SNP genotypes of over 2,300 individuals and their offspring in two datasets to characterize r...

journal_title：PLoS genetics

authors： Chowdhury R,Bois PR,Feingold E,Sherman SL,Cheung VG

更新日期：2009-09-01 00:00:00

abstract：:The mammalian Y chromosome plays a critical role in spermatogenesis. However, the exact functions of each gene in the Y chromosome have not been completely elucidated, partly owing to difficulties in gene targeting analysis of the Y chromosome. Zfy was first proposed to be a sex determination factor, but its function ...

journal_title：PLoS genetics

authors： Nakasuji T,Ogonuki N,Chiba T,Kato T,Shiozawa K,Yamatoya K,Tanaka H,Kondo T,Miyado K,Miyasaka N,Kubota T,Ogura A,Asahara H

更新日期：2017-01-23 00:00:00

abstract：:A fundamental step in the evolution of the visual system is the gene duplication of visual opsins and differentiation between the duplicates in absorption spectra and expression pattern in the retina. However, our understanding of the mechanism of expression differentiation is far behind that of spectral tuning of ops...

journal_title：PLoS genetics

authors： Tsujimura T,Hosoya T,Kawamura S

更新日期：2010-12-16 00:00:00

abstract：:Centromere sequences are not conserved between species, and there is compelling evidence for epigenetic regulation of centromere identity, with location being dictated by the presence of chromatin containing the histone H3 variant CENP-A. Paradoxically, in most organisms CENP-A chromatin generally occurs on particular...

journal_title：PLoS genetics

authors： Catania S,Pidoux AL,Allshire RC

更新日期：2015-03-04 00:00:00

abstract：:Breast cancer is the most common cancer in women in developed countries, and the contribution of genetic susceptibility to breast cancer development has been well-recognized. However, a great proportion of these hereditary predisposing factors still remain unidentified. To examine the contribution of rare copy number ...

journal_title：PLoS genetics

authors： Pylkäs K,Vuorela M,Otsukka M,Kallioniemi A,Jukkola-Vuorinen A,Winqvist R

更新日期：2012-01-01 00:00:00

abstract：:Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromo...

journal_title：PLoS genetics

authors： Roewer L,Nothnagel M,Gusmão L,Gomes V,González M,Corach D,Sala A,Alechine E,Palha T,Santos N,Ribeiro-Dos-Santos A,Geppert M,Willuweit S,Nagy M,Zweynert S,Baeta M,Núñez C,Martínez-Jarreta B,González-Andrade F,Fagunde

更新日期：2013-04-01 00:00:00

abstract：:Knowledge of biological relatedness between samples is important for many genetic studies. In large-scale human genetic association studies, the estimated kinship is used to remove cryptic relatedness, control for family structure, and estimate trait heritability. However, estimation of kinship is challenging for spar...

journal_title：PLoS genetics

authors： Dou J,Sun B,Sim X,Hughes JD,Reilly DF,Tai ES,Liu J,Wang C

更新日期：2017-09-29 00:00:00

abstract：:Proteins associated with familial neurodegenerative disease often aggregate in patients' neurons. Several such proteins, e.g. TDP-43, aggregate and are toxic when expressed in yeast. Deletion of the ATXN2 ortholog, PBP1, reduces yeast TDP-43 toxicity, which led to identification of ATXN2 as an amyotrophic lateral scle...

journal_title：PLoS genetics

authors： Park S,Park SK,Watanabe N,Hashimoto T,Iwatsubo T,Shelkovnikova TA,Liebman SW

更新日期：2019-08-07 00:00:00

abstract：:The heart has emerged as an important organ in the regulation of systemic lipid homeostasis; however, the underlying mechanism remains poorly understood. Here, we show that Drosophila cardiomyocytes regulate systemic lipid metabolism by producing apolipoprotein B-containing lipoproteins (apoB-lipoproteins), essential ...

journal_title：PLoS genetics

authors： Lee S,Bao H,Ishikawa Z,Wang W,Lim HY

更新日期：2017-01-17 00:00:00

abstract：:Organisms perceive changes in their dietary environment and enact a suite of behavioral and metabolic adaptations that can impact motivational behavior, disease resistance, and longevity. However, the precise nature and mechanism of these dietary responses is not known. We have uncovered a novel link between dietary f...

journal_title：PLoS genetics

authors： Linford NJ,Chan TP,Pletcher SD

更新日期：2012-01-01 00:00:00

abstract：:Nrf2, a transcriptional activator of cell protection genes, is an attractive therapeutic target for the prevention of neurodegenerative diseases, including Alzheimer's disease (AD). Current Nrf2 activators, however, may exert toxicity and pathway over-activation can induce detrimental effects. An understanding of the ...

journal_title：PLoS genetics

authors： Kerr F,Sofola-Adesakin O,Ivanov DK,Gatliff J,Gomez Perez-Nievas B,Bertrand HC,Martinez P,Callard R,Snoeren I,Cochemé HM,Adcott J,Khericha M,Castillo-Quan JI,Wells G,Noble W,Thornton J,Partridge L

更新日期：2017-03-02 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：:Quantitative genetic analysis has long been used to study how natural variation of genotype can influence an organism's phenotype. While most studies have focused on genetic determinants of phenotypic average, it is rapidly becoming understood that stochastic noise is genetically determined. However, it is not known h...

journal_title：PLoS genetics

authors： Jimenez-Gomez JM,Corwin JA,Joseph B,Maloof JN,Kliebenstein DJ

更新日期：2011-09-01 00:00:00

abstract：:Rhizobial infection of legume root hairs requires a rearrangement of the actin cytoskeleton to enable the establishment of plant-made infection structures called infection threads. In the SCAR/WAVE (Suppressor of cAMP receptor defect/WASP family verpolin homologous protein) actin regulatory complex, the conserved N-te...

journal_title：PLoS genetics

authors： Qiu L,Lin JS,Xu J,Sato S,Parniske M,Wang TL,Downie JA,Xie F

更新日期：2015-10-30 00:00:00

abstract：:Intron number varies considerably among genomes, but despite their fundamental importance, the mutational mechanisms and evolutionary processes underlying the expansion of intron number remain unknown. Here we show that Drosophila, in contrast to most eukaryotic lineages, is still undergoing a dramatic rate of intron ...

journal_title：PLoS genetics

authors： Farlow A,Meduri E,Dolezal M,Hua L,Schlötterer C

更新日期：2010-01-22 00:00:00

abstract：:The genetics of lymphoma susceptibility reflect the marked heterogeneity of diseases that comprise this broad phenotype. However, multiple subtypes of lymphoma are observed in some families, suggesting shared pathways of genetic predisposition to these pathologically distinct entities. Using a two-stage GWAS, we teste...

journal_title：PLoS genetics

authors： Vijai J,Kirchhoff T,Schrader KA,Brown J,Dutra-Clarke AV,Manschreck C,Hansen N,Rau-Murthy R,Sarrel K,Przybylo J,Shah S,Cheguri S,Stadler Z,Zhang L,Paltiel O,Ben-Yehuda D,Viale A,Portlock C,Straus D,Lipkin SM,Lacher

更新日期：2013-01-01 00:00:00

abstract：:Unlike mammals and birds, teleost fish undergo external embryogenesis, and therefore their embryos are constantly challenged by stresses from their living environment. These stresses, when becoming too harsh, will cause arrest of cell proliferation, abnormal cell death or senescence. Such organisms have to evolve a so...

journal_title：PLoS genetics

authors： Hu M,Bai Y,Zhang C,Liu F,Cui Z,Chen J,Peng J

更新日期：2016-02-22 00:00:00

abstract：:In Saccharomyces cerevisiae, the conserved phosphatase Cdc14 is required for the exit from mitosis. It is anchored on nucleolar chromatin by the Cfi1/Net1 protein until early anaphase, at which time it is released into the nucleoplasm. Two poorly understood, redundant pathways promote Cdc14 release, the FEAR (Cdc four...

journal_title：PLoS genetics

authors： Hwang WW,Madhani HD

更新日期：2009-08-01 00:00:00

abstract：:House dust mites are common pests with an unusual evolutionary history, being descendants of a parasitic ancestor. Transition to parasitism is frequently accompanied by genome rearrangements, possibly to accommodate the genetic change needed to access new ecology. Transposable element (TE) activity is a source of geno...

journal_title：PLoS genetics

authors： Mondal M,Klimov P,Flynt AS

更新日期：2018-01-29 00:00:00

abstract：:The molecular clock of neutral mutations, which represents linear mutation fixation over generations, is theoretically explained by genetic drift in fitness-steady evolution or hitchhiking in adaptive evolution. The present study is the first experimental demonstration for the molecular clock of neutral mutations in a...

journal_title：PLoS genetics

authors： Kishimoto T,Ying BW,Tsuru S,Iijima L,Suzuki S,Hashimoto T,Oyake A,Kobayashi H,Someya Y,Narisawa D,Yomo T

更新日期：2015-07-15 00:00:00

abstract：:Skin pigment patterns of vertebrates are a classic system for understanding fundamental mechanisms of morphogenesis, differentiation, and pattern formation, and recent studies of zebrafish have started to elucidate the cellular interactions and molecular mechanisms underlying these processes. In this species, horizont...

journal_title：PLoS genetics

authors： Patterson LB,Parichy DM

更新日期：2013-05-01 00:00:00

abstract：:Variation in DNA methylation is being increasingly associated with health and disease outcomes. Although DNA methylation is hypothesized to be a mechanism by which both genetic and non-genetic factors can influence the regulation of gene expression, little is known about the extent to which DNA methylation at specific...

journal_title：PLoS genetics

authors： Hannon E,Knox O,Sugden K,Burrage J,Wong CCY,Belsky DW,Corcoran DL,Arseneault L,Moffitt TE,Caspi A,Mill J

更新日期：2018-08-09 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：:The catalytic subunit of yeast telomerase, Est2p, is a telomere associated throughout most of the cell cycle, while the Est1p subunit binds only in late S/G2 phase, the time of telomerase action. Est2p binding in G1/early S phase requires a specific interaction between telomerase RNA (TLC1) and Ku80p. Here, we show th...

journal_title：PLoS genetics

authors： Chan A,Boulé JB,Zakian VA

更新日期：2008-10-01 00:00:00

abstract：:Fibroblasts are ubiquitous mesenchymal cells with many vital functions during development, tissue repair, and disease. Fibroblasts from different anatomic sites have distinct and characteristic gene expression patterns, but the principles that govern their molecular specialization are poorly understood. Spatial organi...

journal_title：PLoS genetics

authors： Rinn JL,Bondre C,Gladstone HB,Brown PO,Chang HY

更新日期：2006-07-01 00:00:00

abstract：:The molecular mechanisms of animal cell osmoregulation are poorly understood. Genetic studies of osmoregulation in yeast have identified mucin-like proteins as critical regulators of osmosensitive signaling and gene expression. Whether mucins play similar roles in higher organisms is not known. Here, we show that muta...

journal_title：PLoS genetics

authors： Rohlfing AK,Miteva Y,Moronetti L,He L,Lamitina T

更新日期：2011-01-06 00:00:00

abstract：:Insect cuticle is composed mainly of structural proteins and the polysaccharide chitin. The CPR family is the largest family of cuticle proteins (CPs), which can be further divided into three subgroups based on the presence of one of the three presumptive chitin-binding sequence motifs denoted as Rebers-Riddiford (R&R...

journal_title：PLoS genetics

authors： Noh MY,Muthukrishnan S,Kramer KJ,Arakane Y

更新日期：2015-02-09 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1006396.]. ...

journal_title：PLoS genetics

authors： Hibshman JD,Hung A,Baugh LR

更新日期：2018-08-30 00:00:00