Osteo-chondroprogenitor-specific deletion of the selenocysteine tRNA gene, Trsp, leads to chondronecrosis and abnormal skeletal development: a putative model for Kashin-Beck disease.

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：:In enterobacteria, the Rcs system (Regulator of capsule synthesis) monitors envelope integrity and induces a stress response when damages occur in the outer membrane or in the peptidoglycan layer. Built around a two-component system, Rcs controls gene expression via a cascade of phosphoryl transfer reactions. Being pa...

journal_title：PLoS genetics

authors： Hussein NA,Cho SH,Laloux G,Siam R,Collet JF

更新日期：2018-05-31 00:00:00

abstract：:The interplay of microbiota and the human host is physiologically crucial in health and diseases. The beneficial effects of lactic acid bacteria (LAB), permanently colonizing the human intestine or transiently obtained from food, have been extensively reported. However, the molecular understanding of how LAB modulate ...

journal_title：PLoS genetics

authors： Peters A,Krumbholz P,Jäger E,Heintz-Buschart A,Çakir MV,Rothemund S,Gaudl A,Ceglarek U,Schöneberg T,Stäubert C

更新日期：2019-05-23 00:00:00

abstract：:The Alphaproteobacteria show a remarkable diversity of cell cycle-dependent developmental patterns, which are governed by the conserved CtrA pathway. Its central component CtrA is a DNA-binding response regulator that is controlled by a complex two-component signaling network, mediating distinct transcriptional progra...

journal_title：PLoS genetics

authors： Leicht O,van Teeseling MCF,Panis G,Reif C,Wendt H,Viollier PH,Thanbichler M

更新日期：2020-04-23 00:00:00

abstract：:As a consequence of the accumulation of insertion events over evolutionary time, mobile elements now comprise nearly half of the human genome. The Alu, L1, and SVA mobile element families are still duplicating, generating variation between individual genomes. Mobile element insertions (MEI) have been identified as cau...

journal_title：PLoS genetics

authors： Stewart C,Kural D,Strömberg MP,Walker JA,Konkel MK,Stütz AM,Urban AE,Grubert F,Lam HY,Lee WP,Busby M,Indap AR,Garrison E,Huff C,Xing J,Snyder MP,Jorde LB,Batzer MA,Korbel JO,Marth GT,1000 Genomes Project.

更新日期：2011-08-01 00:00:00

abstract：:The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome sequencing, we identified two recessive loss-of-function MNS1 mutations in...

journal_title：PLoS genetics

authors： Ta-Shma A,Hjeij R,Perles Z,Dougherty GW,Abu Zahira I,Letteboer SJF,Antony D,Darwish A,Mans DA,Spittler S,Edelbusch C,Cindrić S,Nöthe-Menchen T,Olbrich H,Stuhlmann F,Aprea I,Pennekamp P,Loges NT,Breuer O,Shaag A,Re

更新日期：2018-08-27 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 phenotypic heterogeneity that characterizes human cancers reflects the enormous genetic complexity of the oncogenic process. This complexity can also be seen in mouse models where it is frequently observed that in addition to the initiating genetic alteration, the resulting tumor harbors additional, somatically ac...

journal_title：PLoS genetics

authors： Rempel RE,Mori S,Gasparetto M,Glozak MA,Andrechek ER,Adler SB,Laakso NM,Lagoo AS,Storms R,Smith C,Nevins JR

更新日期：2009-09-01 00:00:00

abstract：:Innate immunity in Caenorhabditis elegans requires a conserved PMK-1 p38 mitogen-activated protein kinase (MAPK) pathway that regulates the basal and pathogen-induced expression of immune effectors. The mechanisms by which PMK-1 p38 MAPK regulates the transcriptional activation of the C. elegans immune response have n...

journal_title：PLoS genetics

authors： Shivers RP,Pagano DJ,Kooistra T,Richardson CE,Reddy KC,Whitney JK,Kamanzi O,Matsumoto K,Hisamoto N,Kim DH

更新日期：2010-04-01 00:00:00

abstract：:During neurogenesis, transcription factors combinatorially specify neuronal fates and then differentiate subtype identities by inducing subtype-specific gene expression profiles. But how is neuronal subtype identity maintained in mature neurons? Modeling this question in two Drosophila neuronal subtypes (Tv1 and Tv4),...

journal_title：PLoS genetics

authors： Eade KT,Fancher HA,Ridyard MS,Allan DW

更新日期：2012-01-01 00:00:00

abstract：:Marine viruses play a critical role not only in the global geochemical cycles but also in the biology and evolution of their hosts. Despite their importance, viral diversity remains underexplored mostly due to sampling and cultivation challenges. Direct sequencing approaches such as viromics has provided new insights ...

journal_title：PLoS genetics

authors： López-Pérez M,Haro-Moreno JM,Gonzalez-Serrano R,Parras-Moltó M,Rodriguez-Valera F

更新日期：2017-09-25 00:00:00

abstract：:More than 5% of alternatively spliced internal exons in the human genome are derived from Alu elements in a process termed exonization. Alus are comprised of two homologous arms separated by an internal polypyrimidine tract (PPT). In most exonizations, splice sites are selected from within the same arm. We hypothesize...

journal_title：PLoS genetics

authors： Gal-Mark N,Schwartz S,Ram O,Eyras E,Ast G

更新日期：2009-11-01 00:00:00

abstract：:Quality control (QC) is a critical step in large-scale studies of genetic variation. While, on average, high-throughput single nucleotide polymorphism (SNP) genotyping assays are now very accurate, the errors that remain tend to cluster into a small percentage of "problem" SNPs, which exhibit unusually high error rate...

journal_title：PLoS genetics

authors： Scheet P,Stephens M

更新日期：2008-08-01 00:00:00

abstract：:In haploid cells of Ogataea (Hansenula) polymorpha an environmental signal, nitrogen starvation, induces a reversible change in the structure of a chromosome. This process, mating-type switching, inverts a 19-kb DNA region to place either MATa or MATα genes under centromeric repression of transcription, depending on t...

journal_title：PLoS genetics

authors： Hanson SJ,Byrne KP,Wolfe KH

更新日期：2017-11-27 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1000832.]. ...

journal_title：PLoS genetics

authors： Clark MJ,Homer N,O'Connor BD,Chen Z,Eskin A,Lee H,Merriman B,Nelson SF

更新日期：2018-05-16 00:00:00

abstract：:Neural stem cell self-renewal, neurogenesis, and cell fate determination are processes that control the generation of specific classes of neurons at the correct place and time. The transcription factor Pax6 is essential for neural stem cell proliferation, multipotency, and neurogenesis in many regions of the central n...

journal_title：PLoS genetics

authors： Sansom SN,Griffiths DS,Faedo A,Kleinjan DJ,Ruan Y,Smith J,van Heyningen V,Rubenstein JL,Livesey FJ

更新日期：2009-06-01 00:00:00

abstract：:As miRNAs are associated with normal cellular processes, deregulation of miRNAs is thought to play a causative role in many complex diseases. Nevertheless, the precise contribution of miRNAs in fibrotic lung diseases, especially the idiopathic form (IPF), remains poorly understood. Given the poor response rate of IPF ...

journal_title：PLoS genetics

authors： Lino Cardenas CL,Henaoui IS,Courcot E,Roderburg C,Cauffiez C,Aubert S,Copin MC,Wallaert B,Glowacki F,Dewaeles E,Milosevic J,Maurizio J,Tedrow J,Marcet B,Lo-Guidice JM,Kaminski N,Barbry P,Luedde T,Perrais M,Mari B,

更新日期：2013-01-01 00:00:00

abstract：:Hyperostosis Cranialis Interna (HCI) is a rare bone disorder characterized by progressive intracranial bone overgrowth at the skull. Here we identified by whole-exome sequencing a dominant mutation (L441R) in SLC39A14 (ZIP14). We show that L441R ZIP14 is no longer trafficked towards the plasma membrane and excessively...

journal_title：PLoS genetics

authors： Hendrickx G,Borra VM,Steenackers E,Yorgan TA,Hermans C,Boudin E,Waterval JJ,Jansen IDC,Aydemir TB,Kamerling N,Behets GJ,Plumeyer C,D'Haese PC,Busse B,Everts V,Lammens M,Mortier G,Cousins RJ,Schinke T,Stokroos RJ,M

更新日期：2018-04-05 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：:Mimulus guttatus and M. nasutus are an evolutionary and ecological model sister species pair differentiated by ecology, mating system, and partial reproductive isolation. Despite extensive research on this system, the history of divergence and differentiation in this sister pair is unclear. We present and analyze a po...

journal_title：PLoS genetics

authors： Brandvain Y,Kenney AM,Flagel L,Coop G,Sweigart AL

更新日期：2014-06-26 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：:Understanding how axon guidance receptors are activated by their extracellular ligands to regulate growth cone motility is critical to learning how proper wiring is established during development. Roundabout (Robo) is one such guidance receptor that mediates repulsion from its ligand Slit in both invertebrates and ver...

journal_title：PLoS genetics

authors： Chance RK,Bashaw GJ

更新日期：2015-09-03 00:00:00

abstract：:Drosophila melanogaster head development represents a valuable process to study the developmental control of various organs, such as the antennae, the dorsal ocelli and the compound eyes from a common precursor, the eye-antennal imaginal disc. While the gene regulatory network underlying compound eye development has b...

journal_title：PLoS genetics

authors： Torres-Oliva M,Schneider J,Wiegleb G,Kaufholz F,Posnien N

更新日期：2018-01-23 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：:Neisseria meningitidis is the primary causative agent of bacterial meningitis. The genome is rich in repetitive DNA and almost 2% is occupied by a diminutive transposon called the Correia element. Here we report a bioinformatic analysis defining eight subtypes of the element with four distinct types of ends. Transcrip...

journal_title：PLoS genetics

authors： Siddique A,Buisine N,Chalmers R

更新日期：2011-01-20 00:00:00

abstract：:Male mammals produce sperm for most of postnatal life and therefore require a robust germ line stem cell system, with precise balance between self-renewal and differentiation. Prior work established doublesex- and mab-3-related transcription factor 1 (Dmrt1) as a conserved transcriptional regulator of male sexual diff...

journal_title：PLoS genetics

authors： Zhang T,Oatley J,Bardwell VJ,Zarkower D

更新日期：2016-09-01 00:00:00

abstract：:Considerable evidence now supports the idea that the moderate telomere lengthening produced by recombinational telomere elongation (RTE) in a Kluyveromyces lactis telomerase deletion mutant occurs through a roll-and-spread mechanism. However, it is unclear whether this mechanism can account for other forms of RTE that...

journal_title：PLoS genetics

authors： Xu J,McEachern MJ

更新日期：2012-01-01 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：:Genome-wide association studies have successfully identified thousands of loci for a range of human complex traits and diseases. The proportion of phenotypic variance explained by significant associations is, however, limited. Given the same dense SNP panels, mixed model analyses capture a greater proportion of phenot...

journal_title：PLoS genetics

authors： Xia C,Amador C,Huffman J,Trochet H,Campbell A,Porteous D,Generation Scotland.,Hastie ND,Hayward C,Vitart V,Navarro P,Haley CS

更新日期：2016-02-02 00:00:00

abstract：:Polycomb group (PcG) proteins act as evolutionary conserved epigenetic mediators of cell identity because they repress transcriptional programs that are not required at particular developmental stages. Each tissue is likely to have a specific epigenetic profile, which acts as a blueprint for its developmental fate. A ...

journal_title：PLoS genetics

authors： Weinhofer I,Hehenberger E,Roszak P,Hennig L,Köhler C

更新日期：2010-10-07 00:00:00