PLOS Genetics
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#1Peter A. Kropp (NIH: National Institutes of Health)H-Index: 1
#2Jing Wu (NIH: National Institutes of Health)H-Index: 5
Last. Andy Golden (NIH: National Institutes of Health)H-Index: 23
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Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1) is a rare, autosomal recessive disorder caused by mutations in the NFU1 gene. NFU1 is responsible for delivery of iron-sulfur clusters (ISCs) to recipient proteins which require these metallic cofactors for their function. Pathogenic variants of NFU1 lead to dysfunction of its target proteins within mitochondria. To date, 20 NFU1 variants have been reported and the unique contributions of each variant to MMDS1 pathogenesis is unknown. Given ...
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#1Chiara MeriglianoH-Index: 7
#2Romina BurlaH-Index: 9
Last. Klizia MaccaroniH-Index: 2
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To complete mitosis, the bridge that links the two daughter cells needs to be cleaved. This step is carried out by the endosomal sorting complex required for transport (ESCRT) machinery. AKTIP, a protein discovered to be associated with telomeres and the nuclear membrane in interphase cells, shares sequence similarities with the ESCRT I component TSG101. Here we present evidence that during mitosis AKTIP is part of the ESCRT machinery at the midbody. AKTIP interacts with the ESCRT I subunit VPS2...
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#1Mitchell J Feldmann (UC Davis: University of California, Davis)H-Index: 3
#2Hans-Peter Piepho (University of Hohenheim)H-Index: 72
Last. Steven J. Knapp (UC Davis: University of California, Davis)H-Index: 2
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The development of genome-informed methods for identifying quantitative trait loci (QTL) and studying the genetic basis of quantitative variation in natural and experimental populations has been driven by advances in high-throughput genotyping. For many complex traits, the underlying genetic variation is caused by the segregation of one or more 'large-effect' loci, in addition to an unknown number of loci with effects below the threshold of statistical detection. The large-effect loci segregatin...
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#1Farida S. Akhtari (NCSU: North Carolina State University)H-Index: 1
#2Adrian J. Green (NCSU: North Carolina State University)H-Index: 4
Last. Alison A. Motsinger-Reif (NIH: National Institutes of Health)H-Index: 36
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Cancer patients exhibit a broad range of inter-individual variability in response and toxicity to widely used anticancer drugs, and genetic variation is a major contributor to this variability. To identify new genes that influence the response of 44 FDA-approved anticancer drug treatments widely used to treat various types of cancer, we conducted high-throughput screening and genome-wide association mapping using 680 lymphoblastoid cell lines from the 1000 Genomes Project. The drug treatments co...
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#1Xilin Jiang (University of Oxford)
#2Christopher Holmes (The Turing Institute)H-Index: 63
Last. Gil McVean (University of Oxford)H-Index: 57
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Inherited genetic variation contributes to individual risk for many complex diseases and is increasingly being used for predictive patient stratification. Previous work has shown that genetic factors are not equally relevant to human traits across age and other contexts, though the reasons for such variation are not clear. Here, we introduce methods to infer the form of the longitudinal relationship between genetic relative risk for disease and age and to test whether all genetic risk factors be...
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#1Weier Guo (UC Davis: University of California, Davis)
#2Luca Comai (UC Davis: University of California, Davis)H-Index: 69
Last. Isabelle M. Henry (UC Davis: University of California, Davis)H-Index: 25
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Chromoanagenesis is a genomic catastrophe that results in chromosomal shattering and reassembly. These extreme single chromosome events were first identified in cancer, and have since been observed in other systems, but have so far only been formally documented in plants in the context of haploid induction crosses. The frequency, origins, consequences, and evolutionary impact of such major chromosomal remodeling in other situations remain obscure. Here, we demonstrate the occurrence of chromoana...
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#1Tahirah Yasmin (Edin.: University of Edinburgh)
#2Benura Azeroglu (Edin.: University of Edinburgh)H-Index: 4
Last. David R. F. Leach (Edin.: University of Edinburgh)H-Index: 31
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Accurate repair of DNA double-strand breaks (DSBs) is crucial for cell survival and genome integrity. In Escherichia coli, DSBs are repaired by homologous recombination (HR), using an undamaged sister chromosome as template. The DNA intermediates of this pathway are expected to be branched molecules that may include 4-way structures termed Holliday junctions (HJs), and 3-way structures such as D-loops and repair forks. Using a tool creating a site-specific, repairable DSB on only one of a pair o...
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#1Mennatallah M.Y. Albarqi (UMMS: University of Massachusetts Medical School)
#2Sean P. Ryder (UMMS: University of Massachusetts Medical School)H-Index: 24
RNA regulation is essential to successful reproduction. Messenger RNAs delivered from parent to progeny govern early embryonic development. RNA-binding proteins (RBPs) are the key effectors of this process, regulating the translation and stability of parental transcripts to control cell fate specification events prior to zygotic gene activation. The KH-domain RBP MEX-3 is conserved from nematode to human. It was first discovered in Caenorhabditis elegans, where it is essential for anterior cell ...
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#1Andrea Lukacs (LMU: Ludwig Maximilian University of Munich)H-Index: 3
#2Andreas W. Thomae (LMU: Ludwig Maximilian University of Munich)H-Index: 10
Last. Axel Imhof (LMU: Ludwig Maximilian University of Munich)H-Index: 66
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Postzygotic isolation by genomic conflict is a major cause for the formation of species. Despite its importance, the molecular mechanisms that result in the lethality of interspecies hybrids are still largely unclear. The genus Drosophila, which contains over 1600 different species, is one of the best characterized model systems to study these questions. We showed in the past that the expression levels of the two hybrid incompatibility factors Hmr and Lhr diverged in the two closely related Dros...
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#1Romain Durand (Université de Sherbrooke)H-Index: 2
#2Deschênes F (Université de Sherbrooke)
Last. Vincent Burrus (Université de Sherbrooke)H-Index: 29
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Salmonella Genomic Island 1 (SGI1) and its variants are significant contributors to the spread of antibiotic resistance among Gammaproteobacteria. All known SGI1 variants integrate at the 3' end of trmE, a gene coding for a tRNA modification enzyme. SGI1 variants are mobilized specifically by conjugative plasmids of the incompatibility groups A and C (IncA and IncC). Using a comparative genomics approach based on genes conserved among members of the SGI1 group, we identified diverse integrative ...
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