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1. Full Text Gene Expression Regulation by Upstream Open Reading Frames and Human Disease
by Barbosa, Cristina and Peixeiro, Isabel and Romão, Luísa
PLoS Genetics, ISSN 1553-7390, 08/2013, Volume 9, Issue 8, p. e1003529
Upstream open reading frames (uORFs) are major gene expression regulatory elements. In many eukaryotic mRNAs, one or more uORFs precede the initiation codon of... 
MOLECULAR-MECHANISM | FAMILIAL ESSENTIAL THROMBOCYTHEMIA | POSTTRANSCRIPTIONAL REGULATION | 5'-UNTRANSLATED REGION | BETA-GLOBIN GENE | GENETICS & HEREDITY | DEPENDENT TRANSLATION | NONSENSE MUTATIONS | TRANSLATION INITIATION | MESSENGER-RNA DECAY | BASE DELETION | Disease - genetics | Genetic Association Studies | Humans | Gene Expression Regulation | 5' Untranslated Regions - genetics | Protein Biosynthesis - genetics | Mutation | Open Reading Frames - genetics | RNA Stability | Regulatory Sequences, Nucleic Acid - genetics | RNA sequencing | Messenger RNA | Physiological aspects | Research | Gene expression | Genetic regulation | Health aspects | Proteins | Genotype & phenotype | Reading | Microbiology | Disease | Efficiency | Regulation | Binding sites
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2. Full Text Initial genome sequencing and analysis of multiple myeloma
by Chapman, Michael A and Lawrence, Michael S and Keats, Jonathan J and Cibulskis, Kristian and Sougnez, Carrie and Schinzel, Anna C and Harview, Christina L and Brunet, Jean-Philippe and Ahmann, Gregory J and Adli, Mazhar and Anderson, Kenneth C and Ardlie, Kristin G and Auclair, Daniel and Baker, Angela and Bergsagel, P. Leif and Bernstein, Bradley E and Drier, Yotam and Fonseca, Rafael and Gabriel, Stacey B and Hofmeister, Craig C and Jagannath, Sundar and Jakubowiak, Andrzej J and Krishnan, Amrita and Levy, Joan and Liefeld, Ted and Lonial, Sagar and Mahan, Scott and Mfuko, Bunmi and Monti, Stefano and Perkins, Louise M and Onofrio, Robb and Pugh, Trevor J and Rajkumar, S. Vincent and Ramos, Alex H and Siegel, David S and Sivachenko, Andrey and Stewart, A. Keith and Trudel, Suzanne and Vij, Ravi and Voet, Douglas and Winckler, Wendy and Zimmerman, Todd and Carpten, John and Trent, Jeff and Hahn, William C and Garraway, Levi A and Meyerson, Matthew and Lander, Eric S and Getz, Gad and Golub, Todd R
Nature, ISSN 0028-0836, 03/2011, Volume 471, Issue 7339, pp. 467 - 472
Multiple myeloma is an incurable malignancy of plasma cells, and its pathogenesis is poorly understood. Here we report the massively parallel sequencing of 38... 
PATHOGENESIS | B-CELL LYMPHOMA | BLIMP-1 | GENE | MULTIDISCIPLINARY SCIENCES | STRESS-RESPONSE | EXOSOME | CLASSIFICATION | DIFFERENTIATION | HUMAN CANCER | SOMATIC MUTATIONS | Ribonucleases - genetics | Ribonucleases - chemistry | Genomics | Humans | Molecular Sequence Data | NF-kappa B - metabolism | DNA Repair - genetics | Multiple Myeloma - drug therapy | DNA Mutational Analysis | Protein Biosynthesis - genetics | Multiple Myeloma - enzymology | Proto-Oncogene Proteins B-raf - metabolism | Amino Acid Sequence | Oncogenes - genetics | Models, Molecular | Exons - genetics | Signal Transduction - genetics | Multiple Myeloma - metabolism | Mutation - genetics | Open Reading Frames - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Proto-Oncogene Proteins B-raf - antagonists & inhibitors | RNA Processing, Post-Transcriptional - genetics | Proto-Oncogene Proteins B-raf - genetics | CpG Islands - genetics | Blood Coagulation - genetics | Protein Conformation | Histones - metabolism | Transcription, Genetic - genetics | Exosome Multienzyme Ribonuclease Complex | Methylation | Homeostasis - genetics | Multiple Myeloma - genetics | Usage | Multiple myeloma | Development and progression | Genetic aspects | Research | Nucleotide sequencing | Methods | Cancer | Proteins | Pathogenesis | Homeostasis | Genetics | Genomes | Mutation | Kinases | Mass spectrometry
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3. Full Text Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
by Gusev, Alexander and Lee, Phil and Lee, S. Hong and Trynka, Gosia and Finucane, Hilary and Vilhjálmsson, Bjarni J and Xu, Han and Zang, Chongzhi and Ripke, Stephan and Bulik-Sullivan, Brendan and Stahl, Eli A and Stahl, Eli and Neale, Benjamin M and Neale, Benjamin M and Corvin, Aiden and Walters, James T.R and Farh, Kai-How and Holmans, Peter A and Collier, David A and Huang, Hailiang and Pers, Tune H and Agartz, Ingrid and Agerbo, Esben and Albus, Margot and Alexander, Madeline and Amin, Farooq and Bacanu, Silviu A and Begemann, Martin and Belliveau, Richard A and Bene, Judit and Bergen, Sarah and Bergen, Sarah E and Bevilacqua, Elizabeth and Bigdeli, Tim B and Black, Donald W and Børglum, Anders D and Bruggeman, Richard and Buccola, Nancy G and Buckner, Randy L and Byerley, William and Cahn, Wiepke and Cai, Guiqing and Campion, Dominique and Cantor, Rita M and Carr, Vaughan J and Carrera, Noa and Catts, Stanley V and Chambert, Kimberly D and Chambert, Kimberly and Chan, Raymond C.K and Chen, Ronald Y.L and Chen, Eric Y.H and Cheng, Wei and Cheung, Eric F.C and Chong, Siow Ann and Cloninger, C. Robert and Cohen, David and Cohen, Nadine and Cormican, Paul and Craddock, Nick and Crowley, James J and Curtis, David and Davidson, Michael and Davis, Kenneth L and Degenhardt, Franziska and Del Favero, Jurgen and DeLisi, Lynn E and Demontis, Ditte and Dikeos, Dimitris and Dinan, Timothy and Djurovic, Srdjan and Donohoe, Gary and Drapeau, Elodie and Duan, Jubao and Dudbridge, Frank and Durmishi, Naser and Eichhammer, Peter and Eriksson, Johan and Escott-Price, Valentina and Essioux, Laurent and Fanous, Ayman H and Farrell, Martilias S and Frank, Josef and Franke, Lude and Freedman, Robert and Freimer, Nelson B and Friedl, Marion and Friedman, Joseph I and Fromer, Menachem and Genovese, Giulio and Georgieva, Lyudmila and Gershon, Elliot S and Giegling, Ina and Giusti-Rodrguez, Paola and Godard, Stephanie and Goldstein, Jacqueline I and Golimbet, Vera and Gopal, Srihari and Gratten, Jacob and Grove, Jakob and ... and Psychiat Genomics Consortium and SWE-SCZ Consortium and Schizophrenia Working Group of the Psychiatric Genomics Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 11/2014, Volume 95, Issue 5, pp. 535 - 552
Regulatory and coding variants are known to be enriched with associations identified by genome-wide association studies (GWASs) of complex disease, but their... 
PRIOR INFORMATION | GENETIC-VARIATION | GENOTYPE IMPUTATION | GENETICS & HEREDITY | DNA ELEMENTS | SNPS | SCHIZOPHRENIA | LARGE-SCALE | LOCI | EXPRESSION | GENOME-WIDE ASSOCIATION | Computer Simulation | Humans | Genetic Diseases, Inborn - genetics | Inheritance Patterns - genetics | Genetic Variation - genetics | Models, Genetic | Genome-Wide Association Study - methods | Open Reading Frames - genetics | Regulatory Elements, Transcriptional - genetics | Genetic research | Epigenetic inheritance | Research | Genetic regulation
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4. Full Text A human gut microbial gene catalogue established by metagenomic sequencing
by Qin, J and Li, R and Raes, J and Arumugam, M and Tims, S and Vos, de, W.M and Zoetendal, E.G and Kleerebezem, M and MetaHIT Consortium
Nature, ISSN 0028-0836, 2010, Volume 464, Issue 7285, pp. 59 - 65
To understand the impact of gut microbes on human health and well-being it is crucial to assess their genetic potential. Here we describe the Illumina-based... 
OBESITY | ALIGNMENT | INTESTINAL MICROBIOTA | MULTIDISCIPLINARY SCIENCES | ENVIRONMENT | FERMENTATION | HOST | DIVERSITY | NETWORKS | COMMUNITIES | 16S RIBOSOMAL-RNA | Bacteria - metabolism | Genes, Bacterial - genetics | Health | Genomics | Humans | Gastrointestinal Tract - microbiology | Overweight - genetics | Open Reading Frames - genetics | Bacteria - genetics | Obesity - genetics | Sequence Analysis, DNA | Spain | Feces - microbiology | Genome, Bacterial - genetics | Bacteria - isolation & purification | Metagenome - genetics | Inflammatory Bowel Diseases - genetics | Bacteria - classification | Denmark | Adult | Contig Mapping | Cohort Studies | Genes, Essential - genetics | Research | Nucleotide sequence | Ribosomal RNA | DNA | Inflammatory bowel disease | Bacteria | Microbiology | Genes | Life Sciences | Genetics | Human genetics | intestinal microbiota | diversity | environment | host | fermentation | 16s ribosomal-rna | alignment | networks | obesity | communities
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