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作者:Joakim Klar , Jörg Piontek , Susanne Milatz ...
来源:[J].PLOS Genetics(IF 8.694), 2017, Vol.13 (7)PLOS
摘要:Claudins constitute the major component of tight junctions and regulate paracellular permeability of epithelia. Claudin-10 occurs in two major isoforms that form paracellular channels with ion selectivity. We report on two families segregating an autosomal recessive disorder char...
作者:Eros Di Giorgio , Elisa Franforte , Sebastiano Cefalù ...
来源:[J].PLOS Genetics(IF 8.694), 2017, Vol.13 (4)PLOS
摘要:The contribution of MEF2 TFs to the tumorigenic process is still mysterious. Here we clarify that MEF2 can support both pro-oncogenic or tumor suppressive activities depending on the interaction with co-activators or co-repressors partners. Through these interactions MEF2 supervi...
作者:Stephanie Patchett , Sharmishtha Musalgaonkar , Andrey G. Malyutin ...
来源:[J].PLOS Genetics(IF 8.694), 2017, Vol.13 (7)PLOS
摘要:Mutations in the ribosomal protein Rpl10 (uL16) can be drivers of T-cell acute lymphoblastic leukemia (T-ALL). We previously showed that these T-ALL mutations disrupt late cytoplasmic maturation of the 60S ribosomal subunit, blocking the release of the trans-acting factors Nmd3 a...
作者:Jingjing Liang , Thu H. Le , Digna R. Velez Edwards ...
来源:[J].PLOS Genetics(IF 8.694), 2017, Vol.13 (5)PLOS
摘要:Hypertension is a leading cause of global disease, mortality, and disability. While individuals of African descent suffer a disproportionate burden of hypertension and its complications, they have been underrepresented in genetic studies. To identify novel susceptibility loc...
作者:Huibo Ren , Xie Dang , Xianzhi Cai ...
来源:[J].PLOS Genetics(IF 8.694), 2017, Vol.13 (6)PLOS
摘要:The physiological functions of epidermal cells are largely determined by their diverse morphologies. Most flowering plants have special conical-shaped petal epidermal cells that are thought to influence light capture and reflectance, and provide pollinator grips, but the molecula...
作者:Niedzica Camacho , Peter Van Loo , Sandra Edwards ...
来源:[J].PLOS Genetics(IF 8.694), 2017, Vol.13 (9)PLOS
摘要:A variety of models have been proposed to explain regions of recurrent somatic copy number alteration (SCNA) in human cancer. Our study employs Whole Genome DNA Sequence (WGS) data from tumor samples (n = 103) to comprehensively assess the role of the Knudson two hit genetic mode...
作者:Marcin J. Skwark , Nicholas J. Croucher , Santeri Puranen ...
来源:[J].PLOS Genetics(IF 8.694), 2017, Vol.13 (2)PLOS
摘要:Recent advances in the scale and diversity of population genomic datasets for bacteria now provide the potential for genome-wide patterns of co-evolution to be studied at the resolution of individual bases. Here we describe a new statistical method, genomeDCA, which uses recent a...
作者:Richard E. Lenski
来源:[J].PLOS Genetics(IF 8.694), 2017, Vol.13 (4)PLOS
摘要:Ever since Darwin, the role of natural selection in shaping the morphological, physiological, and behavioral adaptations of animals and plants across generations has been central to understanding life and its diversity. New discoveries have shown with increasing precision ho...
作者:Emilie J. Richards , Christopher H. Martin
来源:[J].PLOS Genetics(IF 8.694), 2017, Vol.13 (8)PLOS
摘要:Rapid diversification often involves complex histories of gene flow that leave variable and conflicting signatures of evolutionary relatedness across the genome. Identifying the extent and source of variation in these evolutionary relationships can provide insight into the evolut...
作者:Rui Martiniano , Lara M. Cassidy , Ros Ó'Maoldúin ...
来源:[J].PLOS Genetics(IF 8.694), 2017, Vol.13 (7)PLOS
摘要:We analyse new genomic data (0.05–2.95x) from 14 ancient individuals from Portugal distributed from the Middle Neolithic (4200–3500 BC) to the Middle Bronze Age (1740–1430 BC) and impute genomewide diploid genotypes in these together with published ancient Eurasians. Wh...

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