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

Sent on Wednesday, 2014 March 05
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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Items 1 - 3 of 3

1.	Science. 2014 Feb 14;343(6172):720-1. doi: 10.1126/science.343.6172.720. History of science. After more than 50 years, a dispute over Down syndrome discovery. Pain E.
	PMID: 24531949 [PubMed - indexed for MEDLINE]
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2.	FEBS J. 2014 Jan;281(1):63-73. doi: 10.1111/febs.12601. Epub 2013 Nov 28. L1 retrotransposons, cancer stem cells and oncogenesis. Carreira PE1, Richardson SR, Faulkner GJ. Author information: 1Cancer Biology Program, Mater Medical Research Institute, South Brisbane, Australia. Abstract Retrotransposons have played a central role in human genome evolution. The accumulation of heritable L1, Alu and SVA retrotransposon insertions continues to generate structural variation within and between populations, and can result in spontaneous genetic disease. Recent works have reported somatic L1 retrotransposition in tumours, which in some cases may contribute to oncogenesis. Intriguingly, L1 mobilization appears to occur almost exclusively in cancers of epithelial cell origin. In this review, we discuss how L1 retrotransposition could potentially trigger neoplastic transformation, based on the established correlation between L1 activity and cellular plasticity, and the proven capacity of L1-mediated insertional mutagenesis to decisively alter gene expression and functional output. © 2013 The Authors. FEBS Journal published by John Wiley & Sons Ltd on behalf of FEBS.
	PMID: 24286172 [PubMed - indexed for MEDLINE]
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3.	Nat Genet. 2014 Jan;46(1):61-4. doi: 10.1038/ng.2826. Epub 2013 Nov 10. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Weedon MN1, Cebola I2, Patch AM1, Flanagan SE3, De Franco E3, Caswell R3, Rodríguez-Seguí SA4, Shaw-Smith C3, Cho CH5, Lango Allen H3 , Houghton JA3, Roth CL6, Chen R7, Hussain K8, Marsh P9, Vallier L5, Murray A3; International Pancreatic Agenesis Consortium, Ellard S10, Ferrer J11, Hattersley AT10. Author information: 11] Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. [2] These authors contributed equally to this work. 21] Genomic Regulation of Pancreatic Beta-Cells Laboratory, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain. [2] Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas, Barcelona, Spain. [3] Department of Medicine, Imperial College, London, UK. [4] These authors contributed equally to this work. 3Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. 41] Genomic Regulation of Pancreatic Beta-Cells Laboratory, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain. [2] Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas, Barcelona, Spain. 5Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute, Anne McLaren Laboratory for Regenerative Medicine, Cambridge, UK. 6Seattle Children's Hospital Research Institute, Seattle, Washington, USA. 7School of Biomedical Science, Waterloo Campus, King's College London, London, UK. 81] London Centre for Paediatric Endocrinology and Metabolism, in partnership with the Great Ormond Street Hospital for Children National Health Service Trust, London, UK. [2] Institute of Child Health, University College London, London, UK. 9Diabetes Research Group, Diabetes and Nutritional Sciences Division, School of Medicine, King's College London, London, UK. 101] Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. [2]. 111] Genomic Regulation of Pancreatic Beta-Cells Laboratory, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain. [2] Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas, Barcelona, Spain. [3] Department of Medicine, Imperial College, London, UK. [4]. Comment in Enhancer mutations and phenotype modularity. [Nat Genet. 2014] Enhancer mutations and phenotype modularity.Gordon CT, Lyonnet S. Nat Genet. 2014 Jan; 46(1):3-4. Abstract The contribution of cis-regulatory mutations to human disease remains poorly understood. Whole-genome sequencing can identify all noncoding variants, yet the discrimination of causal regulatory mutations represents a formidable challenge. We used epigenomic annotation in human embryonic stem cell (hESC)-derived pancreatic progenitor cells to guide the interpretation of whole-genome sequences from individuals with isolated pancreatic agenesis. This analysis uncovered six different recessive mutations in a previously uncharacterized ~400-bp sequence located 25 kb downstream of PTF1A (encoding pancreas-specific transcription factor 1a) in ten families with pancreatic agenesis. We show that this region acts as a developmental enhancer of PTF1A and that the mutations abolish enhancer activity. These mutations are the most common cause of isolated pancreatic agenesis. Integrating genome sequencing and epigenomic annotation in a disease-relevant cell type can thus uncover new noncoding elements underlying human development and disease.
	PMID: 24212882 [PubMed - indexed for MEDLINE]
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