PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.

abstract：:Gene expression can be highly heterogeneous in isogenic cell populations. An extreme type of heterogeneity is the so-called bistable or bimodal expression, whereby a cell can differentiate into two alternative expression states. Stochastic fluctuations of protein levels, also referred to as noise, provide the necessar...

journal_title：PLoS genetics

authors： Gamba P,Jonker MJ,Hamoen LW

更新日期：2015-06-25 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：:Although numerous genetic loci have been associated with coronary artery disease (CAD) with genome wide association studies, efforts are needed to identify the causal genes in these loci and link them into fundamental signaling pathways. Recent studies have investigated the disease mechanism of CAD associated gene SMA...

journal_title：PLoS genetics

authors： Iyer D,Zhao Q,Wirka R,Naravane A,Nguyen T,Liu B,Nagao M,Cheng P,Miller CL,Kim JB,Pjanic M,Quertermous T

更新日期：2018-10-11 00:00:00

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：:Histone modifiers are critical regulators of chromatin-based processes in eukaryotes. The histone methyltransferase Set1, a component of the Set1C/COMPASS complex, catalyzes the methylation at lysine 4 of histone H3 (H3K4me), a hallmark of euchromatin. Here, we show that the fission yeast Schizosaccharomyces pombe Set...

journal_title：PLoS genetics

authors： Mikheyeva IV,Grady PJ,Tamburini FB,Lorenz DR,Cam HP

更新日期：2014-10-30 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：:Thymine DNA glycosylase (TDG) functions in base excision repair, a DNA repair pathway that acts in a lesion-specific manner to correct individual damaged or altered bases. TDG preferentially catalyzes the removal of thymine and uracil paired with guanine, and is also active on 5-fluorouracil (5-FU) paired with adenine...

journal_title：PLoS genetics

authors： Sjolund A,Nemec AA,Paquet N,Prakash A,Sung P,Doublié S,Sweasy JB

更新日期：2014-11-06 00:00:00

abstract：:Dimethylation of histone H3 lysine 9 (H3K9m2) and trimethylation of histone H3 lysine 27 (H3K27m3) are two hallmarks of transcriptional repression in many organisms. In Arabidopsis thaliana, H3K27m3 is targeted by Polycomb Group (PcG) proteins and is associated with silent protein-coding genes, while H3K9m2 is correla...

journal_title：PLoS genetics

authors： Deleris A,Stroud H,Bernatavichute Y,Johnson E,Klein G,Schubert D,Jacobsen SE

更新日期：2012-01-01 00:00:00

abstract：:This work analyses the genetic variation and evolutionary patterns of recessive resistance loci involved in matching-allele (MA) host-pathogen interactions, focusing on the pvr2 resistance gene to potyviruses of the wild pepper Capsicum annuum glabriusculum (chiltepin). Chiltepin grows in a variety of wild habitats in...

journal_title：PLoS genetics

authors： Poulicard N,Pacios LF,Gallois JL,Piñero D,García-Arenal F

更新日期：2016-08-04 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：:Diphthamide is a highly modified histidine residue in eukaryal translation elongation factor 2 (eEF2) that is the target for irreversible ADP ribosylation by diphtheria toxin (DT). In Saccharomyces cerevisiae, the initial steps of diphthamide biosynthesis are well characterized and require the DPH1-DPH5 genes. However...

journal_title：PLoS genetics

authors： Uthman S,Bär C,Scheidt V,Liu S,ten Have S,Giorgini F,Stark MJ,Schaffrath R

更新日期：2013-01-01 00:00:00

abstract：:Short insertions, deletions (INDELs) and larger structural variants have been increasingly employed in genetic association studies, but few improvements over SNP-based association have been reported. In order to understand why this might be the case, we analysed two publicly available datasets and observed that 63% of...

journal_title：PLoS genetics

authors： Song B,Mott R,Gan X

更新日期：2018-10-16 00:00:00

abstract：:Krüppel-associated box domain-zinc finger proteins (KRAB-ZFPs) are tetrapod-specific transcriptional repressors encoded in the hundreds by the human genome. In order to explore their as yet ill-defined impact on gene expression, we developed an ectopic repressor assay, allowing the study of KRAB-mediated transcription...

journal_title：PLoS genetics

authors： Groner AC,Meylan S,Ciuffi A,Zangger N,Ambrosini G,Dénervaud N,Bucher P,Trono D

更新日期：2010-03-05 00:00:00

abstract：:Tripartite Motif (TRIM) ubiquitin ligases act in the innate immune response against viruses. One of the best characterized members of this family, TRIM5α, serves as a potent retroviral restriction factor with activity against HIV. Here, we characterize what are likely to be the youngest TRIM genes in the human genome....

journal_title：PLoS genetics

authors： Han K,Lou DI,Sawyer SL

更新日期：2011-12-01 00:00:00

abstract：:A complex program of translational repression, mRNA localization, and translational activation ensures that Oskar (Osk) protein accumulates only at the posterior pole of the Drosophila oocyte. Inappropriate expression of Osk disrupts embryonic axial patterning, and is lethal. A key factor in translational repression i...

journal_title：PLoS genetics

authors： Kim G,Pai CI,Sato K,Person MD,Nakamura A,Macdonald PM

更新日期：2015-02-27 00:00:00

abstract：:Most B cell lymphomas originate from B cells that have germinal center (GC) experience and bear chromosome translocations and numerous point mutations. GC B cells remodel their immunoglobulin (Ig) genes by somatic hypermutation (SHM) and class switch recombination (CSR) in their Ig genes. Activation Induced Deaminase ...

journal_title：PLoS genetics

authors： Delgado P,Álvarez-Prado ÁF,Marina-Zárate E,Sernandez IV,Mur SM,de la Barrera J,Sanchez-Cabo F,Cañamero M,de Molina A,Belver L,de Yébenes VG,Ramiro AR

更新日期：2020-12-23 00:00:00

abstract：:Stem cells in tissues reside in and receive signals from local microenvironments called niches. Understanding how multiple signals within niches integrate to control stem cell function is challenging. The Drosophila testis stem cell niche consists of somatic hub cells that maintain both germline stem cells and somatic...

journal_title：PLoS genetics

authors： Stine RR,Greenspan LJ,Ramachandran KV,Matunis EL

更新日期：2014-11-06 00:00:00

abstract：:Abeta peptide accumulation is thought to be the primary event in the pathogenesis of Alzheimer's disease (AD), with downstream neurotoxic effects including the hyperphosphorylation of tau protein. Glycogen synthase kinase-3 (GSK-3) is increasingly implicated as playing a pivotal role in this amyloid cascade. We have d...

journal_title：PLoS genetics

authors： Sofola O,Kerr F,Rogers I,Killick R,Augustin H,Gandy C,Allen MJ,Hardy J,Lovestone S,Partridge L

更新日期：2010-09-02 00:00:00

abstract：:Cells trigger massive changes in gene expression upon environmental fluctuations. The Hog1 stress-activated protein kinase (SAPK) is an important regulator of the transcriptional activation program that maximizes cell fitness when yeast cells are exposed to osmostress. Besides being associated with transcription facto...

journal_title：PLoS genetics

authors： Silva A,Cavero S,Begley V,Solé C,Böttcher R,Chávez S,Posas F,de Nadal E

更新日期：2017-11-20 00:00:00

abstract：:The hallmark of canonical Wnt signaling is the transcriptional induction of Wnt target genes by the beta-catenin/TCF complex. Several studies have proposed alternative interaction partners for beta-catenin or TCF, but the relevance of potential bifurcations in the distal Wnt pathway remains unclear. Here we study on a...

journal_title：PLoS genetics

authors： Franz A,Shlyueva D,Brunner E,Stark A,Basler K

更新日期：2017-04-03 00:00:00

abstract：:One of the striking findings of comparative developmental genetics was that expression patterns of core transcription factors are extraordinarily conserved in bilaterians. However, it remains unclear whether cis-regulatory elements of their target genes also exhibit common signatures associated with conserved embryoni...

journal_title：PLoS genetics

authors： Haeussler M,Jaszczyszyn Y,Christiaen L,Joly JS

更新日期：2010-04-15 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：:DNA replication programs have been studied extensively in yeast and animal systems, where they have been shown to correlate with gene expression and certain epigenetic modifications. Despite the conservation of core DNA replication proteins, little is known about replication programs in plants. We used flow cytometry ...

journal_title：PLoS genetics

authors： Lee TJ,Pascuzzi PE,Settlage SB,Shultz RW,Tanurdzic M,Rabinowicz PD,Menges M,Zheng P,Main D,Murray JA,Sosinski B,Allen GC,Martienssen RA,Hanley-Bowdoin L,Vaughn MW,Thompson WF

更新日期：2010-06-10 00:00:00

abstract：:The abundance and identity of functional variation segregating in natural populations is paramount to dissecting the molecular basis of quantitative traits as well as human genetic diseases. Genome sequencing of multiple organisms of the same species provides an efficient means of cataloging rearrangements, insertion,...

journal_title：PLoS genetics

authors： Doniger SW,Kim HS,Swain D,Corcuera D,Williams M,Yang SP,Fay JC

更新日期：2008-08-29 00:00:00

abstract：:Pathological aggregates of phosphorylated TDP-43 characterize amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD-TDP), two devastating groups of neurodegenerative disease. Kinase hyperactivity may be a consistent feature of ALS and FTLD-TDP, as phosphorylated TDP-43 is not observed in the ...

journal_title：PLoS genetics

authors： Liachko NF,McMillan PJ,Strovas TJ,Loomis E,Greenup L,Murrell JR,Ghetti B,Raskind MA,Montine TJ,Bird TD,Leverenz JB,Kraemer BC

更新日期：2014-12-04 00:00:00

abstract：:High-altitude hypoxia (reduced inspired oxygen tension due to decreased barometric pressure) exerts severe physiological stress on the human body. Two high-altitude regions where humans have lived for millennia are the Andean Altiplano and the Tibetan Plateau. Populations living in these regions exhibit unique circula...

journal_title：PLoS genetics

authors： Bigham A,Bauchet M,Pinto D,Mao X,Akey JM,Mei R,Scherer SW,Julian CG,Wilson MJ,López Herráez D,Brutsaert T,Parra EJ,Moore LG,Shriver MD

更新日期：2010-09-09 00:00:00

abstract：:Unexplained cardiac arrest (UCA) with documented ventricular fibrillation (VF) is a major cause of sudden cardiac death. Abnormal sympathetic innervations have been shown to be a trigger of ventricular fibrillation. Further, adequate expression of SEMA3A was reported to be critical for normal patterning of cardiac sym...

journal_title：PLoS genetics

authors： Nakano Y,Chayama K,Ochi H,Toshishige M,Hayashida Y,Miki D,Hayes CN,Suzuki H,Tokuyama T,Oda N,Suenari K,Uchimura-Makita Y,Kajihara K,Sairaku A,Motoda C,Fujiwara M,Watanabe Y,Yoshida Y,Ohkubo K,Watanabe I,Nogami A,

更新日期：2013-04-01 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：: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 microrchidia (MORC) family proteins are chromatin-remodelling factors and function in diverse biological processes such as DNA damage response and transposon silencing. Here, we report that mouse Morc2b encodes a functional germ cell-specific member of the MORC protein family. Morc2b arose specifically in the rode...

journal_title：PLoS genetics

authors： Shi B,Xue J,Zhou J,Kasowitz SD,Zhang Y,Liang G,Guan Y,Shi Q,Liu M,Sha J,Huang X,Wang PJ

更新日期：2018-01-12 00:00:00