What's new for 'JKB_daily1' in PubMed

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Sender's message: Sepsis or genomics or altitude: JKB_daily1

Sent on Saturday, 2013 February 23
Search: (sepsis[MeSH Terms] OR septic shock[MeSH Terms] OR altitude[MeSH Terms] OR genomics[MeSH Terms] OR genetics[MeSH Terms] OR retrotransposons[MeSH Terms] OR macrophage[MeSH Terms]) AND ("2009/8/8"[Publication Date] : "3000"[Publication Date]) AND (("Science"[Journal] OR "Nature"[Journal] OR "The New England journal of medicine"[Journal] OR "Lancet"[Journal] OR "Nature genetics"[Journal] OR "Nature medicine"[Journal]) OR (Hume DA[Author] OR Baillie JK[Author] OR Faulkner, Geoffrey J[Author]))

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PubMed Results

Items 1 - 5 of 5

1.	Nat Genet. 2013 Jan;45(1):4-5. doi: 10.1038/ng.2510. Translating genes into health. Kricka LJ, Di Resta C. Department of Pathology & Laboratory Medicine at University of Pennsylvania Medical Center, Philadelphia, Pennsylvania, USA. kricka@mail.med.upenn.edu Abstract A major challenge for genomics is to provide clinical benefits to the genetically diverse human population. Genome science has achieved a catalog of mutations and informative SNPs. Next-generation sequencing is rapidly delivering thousands of complete human genomes, but understanding and applying genomic knowledge remains a daunting undertaking. These challenges and opportunities for genomic medicine were central themes of the Golden Helix Symposium held in Turin, Italy, 18-21 April 2012.
	PMID: 23268128 [PubMed - indexed for MEDLINE]
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2.	Nat Genet. 2013 Jan;45(1):1. doi: 10.1038/ng.2519. Genomics, bears, fruit. [No authors listed]
	PMID: 23268125 [PubMed - indexed for MEDLINE]
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3.	Nat Genet. 2013 Jan;45(1):67-71. doi: 10.1038/ng.2494. Epub 2012 Dec 16. Whole-genome sequencing of giant pandas provides insights into demographic history and local adaptation. Zhao S, Zheng P, Dong S, Zhan X, Wu Q, Guo X, Hu Y, He W, Zhang S, Fan W, Zhu L, Li D, Zhang X, Chen Q, Zhang H, Zhang Z, Jin X, Zhang J, Yang H, Wang J, Wang J, Wei F. Key Laboratory of Animal Ecology and Conservation Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China. Abstract The panda lineage dates back to the late Miocene and ultimately leads to only one extant species, the giant panda (Ailuropoda melanoleuca). Although global climate change and anthropogenic disturbances are recognized to shape animal population demography their contribution to panda population dynamics remains largely unknown. We sequenced the whole genomes of 34 pandas at an average 4.7-fold coverage and used this data set together with the previously deep-sequenced panda genome to reconstruct a continuous demographic history of pandas from their origin to the present. We identify two population expansions, two bottlenecks and two divergences. Evidence indicated that, whereas global changes in climate were the primary drivers of population fluctuation for millions of years, human activities likely underlie recent population divergence and serious decline. We identified three distinct panda populations that show genetic adaptation to their environments. However, in all three populations, anthropogenic activities have negatively affected pandas for 3,000 years.
	PMID: 23242367 [PubMed - indexed for MEDLINE]
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4.	Nat Genet. 2013 Jan;45(1):109-13. doi: 10.1038/ng.2478. Epub 2012 Dec 9. Emergence and global spread of epidemic healthcare-associated Clostridium difficile. He M, Miyajima F, Roberts P, Ellison L, Pickard DJ, Martin MJ, Connor TR, Harris SR, Fairley D, Bamford KB, D'Arc S, Brazier J, Brown D, Coia JE, Douce G, Gerding D, Kim HJ, Koh TH, Kato H, Senoh M, Louie T, Michell S, Butt E, Peacock SJ, Brown NM, Riley T, Songer G, Wilcox M, Pirmohamed M, Kuijper E, Hawkey P, Wren BW, Dougan G, Parkhill J, Lawley TD. Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK. Comment in Clostridium difficile healthcare-associated epidemics. [Nat Genet. 2013] Clostridium difficile healthcare-associated epidemics.Rasko DA. Nat Genet. 2013 Jan; 45(1):6-7. Abstract Epidemic C. difficile (027/BI/NAP1) has rapidly emerged in the past decade as the leading cause of antibiotic-associated diarrhea worldwide. However, the key events in evolutionary history leading to its emergence and the subsequent patterns of global spread remain unknown. Here, we define the global population structure of C. difficile 027/BI/NAP1 using whole-genome sequencing and phylogenetic analysis. We show that two distinct epidemic lineages, FQR1 and FQR2, not one as previously thought, emerged in North America within a relatively short period after acquiring the same fluoroquinolone resistance-conferring mutation and a highly related conjugative transposon. The two epidemic lineages showed distinct patterns of global spread, and the FQR2 lineage spread more widely, leading to healthcare-associated outbreaks in the UK, continental Europe and Australia. Our analysis identifies key genetic changes linked to the rapid transcontinental dissemination of epidemic C. difficile 027/BI/NAP1 and highlights the routes by which it spreads through the global healthcare system.
	PMID: 23222960 [PubMed - indexed for MEDLINE]
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5.	Nat Genet. 2013 Jan;45(1):12-7. doi: 10.1038/ng.2493. Epub 2012 Dec 2. Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. Sausen M, Leary RJ, Jones S, Wu J, Reynolds CP, Liu X, Blackford A, Parmigiani G, Diaz LA Jr, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE, Hogarty MD. Ludwig Center for Cancer Genetics and Therapeutics, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland, USA. Abstract Neuroblastomas are tumors of peripheral sympathetic neurons and are the most common solid tumor in children. To determine the genetic basis for neuroblastoma, we performed whole-genome sequencing (6 cases), exome sequencing (16 cases), genome-wide rearrangement analyses (32 cases) and targeted analyses of specific genomic loci (40 cases) using massively parallel sequencing. On average, each tumor had 19 somatic alterations in coding genes (range of 3-70). Among genes not previously known to be involved in neuroblastoma, chromosomal deletions and sequence alterations of the chromatin-remodeling genes ARID1A and ARID1B were identified in 8 of 71 tumors (11%) and were associated with early treatment failure and decreased survival. Using tumor-specific structural alterations, we developed an approach to identify rearranged DNA fragments in sera, providing personalized biomarkers for minimal residual disease detection and monitoring. These results highlight the dysregulation of chromatin remodeling in pediatric tumorigenesis and provide new approaches for the management of patients with neuroblastoma. PMCID: PMC3557959 [Available on 2013/6/16]
	PMID: 23202128 [PubMed - indexed for MEDLINE]
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