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485 Newest Publications in proceedings of the national academy of sciences current issue

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matching the following criteria

Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders [Genetics]

19-Apr-2016 | Aoi Wakabayashi; Jacob C. Ulirsch; Leif S. Ludwig; Claudia Fiorini; Makiko Yasuda; Avik Choudhuri; Patrick McDonel; ..., Proceedings of the National Academy of Sciences current issue, 2016

Whole-exome sequencing has been incredibly successful in identifying causal genetic variants and has revealed a number of novel genes associated with blood and other diseases. One limitation of this approach is that it overlooks mutations in noncoding regulatory elements. Furthermore, the ...

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Enhanced gene targeting to evaluate Lynch syndrome alterations [Genetics]

12-Apr-2016 | Richard Fishel; Christopher D. Heinen, Proceedings of the National Academy of Sciences current issue, 2016

The identification of gene alterations that predispose individuals to disease has resulted in an explosion in genetic diagnostics. Because diseases like cancer susceptibility may result in debilitating surgery that has physical, emotional, and realized costs, it is important to get the diagnosis ...

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Major spliceosome defects cause male infertility and are associated with nonobstructive azoospermia in humans [Genetics]

12-Apr-2016 | Hao Wu; Liwei Sun; Yang Wen; Yujuan Liu; Jun Yu; Feiyu Mao; Ya Wang; Chao Tong; Xuejiang Guo; Zhibin Hu; Jiahao Sha; ..., Proceedings of the National Academy of Sciences current issue, 2016

Processing of pre-mRNA into mRNA is an important regulatory mechanism in eukaryotes that is mediated by the spliceosome, a huge and dynamic ribonucleoprotein complex. Splicing defects are implicated in a spectrum of human disease, but the underlying mechanistic links remain largely unresolved. ...

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Reevaluation of whether a soma-to-germ-line transformation extends lifespan in Caenorhabditis elegans [Genetics]

29-Mar-2016 | Andrew Kekūpa'a Knutson; Andreas Rechtsteiner; Susan Strome, Proceedings of the National Academy of Sciences current issue, 2016

The germ lineage is considered to be immortal. In the quest to extend lifespan, a possible strategy is to drive germ-line traits in somatic cells, to try to confer some of the germ lineage’s immortality on the somatic body. Notably, a study in Caenorhabditis elegans suggested that expression of ...

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Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma [Genetics]

22-Mar-2016 | Wei Dai; Hong Zheng; Arthur Kwok Leung Cheung; Clara Sze-man Tang; Josephine Mun Yee Ko; Bonnie Wing Yan Wong; Merri ..., Proceedings of the National Academy of Sciences current issue, 2016

Multiple factors, including host genetics, environmental factors, and Epstein–Barr virus (EBV) infection, contribute to nasopharyngeal carcinoma (NPC) development. To identify genetic susceptibility genes for NPC, a whole-exome sequencing (WES) study was performed in 161 NPC cases and 895 ...

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SARS-like WIV1-CoV poised for human emergence [Microbiology]

15-Mar-2016 | Vineet D. Menachery; Boyd L. Yount Jr.; Amy C. Sims; Kari Debbink; Sudhakar S. Agnihothram; Lisa E. Gralinski; Rache ..., Proceedings of the National Academy of Sciences current issue, 2016

Outbreaks from zoonotic sources represent a threat to both human disease as well as the global economy. Despite a wealth of metagenomics studies, methods to leverage these datasets to identify future threats are underdeveloped. In this study, we describe an approach that combines existing ...

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A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait [Genetics]

15-Mar-2016 | Luoying Zhang; Arisa Hirano; Pei-Ken Hsu; Christopher R. Jones; Noriaki Sakai; Masashi Okuro; Thomas McMahon; Maya Y ..., Proceedings of the National Academy of Sciences current issue, 2016

In humans, the connection between sleep and mood has long been recognized, although direct molecular evidence is lacking. We identified two rare variants in the circadian clock gene PERIOD3 (PER3-P415A/H417R) in humans with familial advanced sleep phase accompanied by higher Beck Depression ...

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In This Issue [This Week in PNAS]

15-Mar-2016 | Proceedings of the National Academy of Sciences current issue, 2016

Assessing emergence of SARS-like epidemic viruses Evaluating emergence of SARS-like epidemic viruses. Image courtesy of iStockphoto/EdStock. The precise likelihood of emergence of zoonotic coronaviruses with epidemic potential similar to severe acute respiratory coronavirus (SARS-CoV) remains ...

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Correction for Baggen et al., Enterovirus D68 receptor requirements unveiled by haploid genetics [Correction]

15-Mar-2016 | Proceedings of the National Academy of Sciences current issue, 2016

MICROBIOLOGY Correction for “Enterovirus D68 receptor requirements unveiled by haploid genetics,” by Jim Baggen, Hendrik Jan Thibaut, Jacqueline Staring, Lucas T. Jae, Yue Liu, Hongbo Guo, Jasper J. Slager, Jost W. de Bruin, Arno L. W. van Vliet, Vincent A. Blomen, Pieter Overduin, Ju Sheng, ...

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Correction for Mesquita et al., Genome of Rhodnius prolixus, an insect vector of Chagas disease, reveals unique adaptations to hematophagy and parasite infection [Correction]

08-Mar-2016 | Proceedings of the National Academy of Sciences current issue, 2016

GENETICS Correction for “Genome of Rhodnius prolixus, an insect vector of Chagas disease, reveals unique adaptations to hematophagy and parasite infection,” by Rafael D. Mesquita, Raquel J. Vionette-Amaral, Carl Lowenberger, Rolando Rivera-Pomar, Fernando A. Monteiro, Patrick Minx, John Spieth, ...

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