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1. Full Text Mechanisms of Type 2 Diabetes Risk Loci
by Gaulton, Kyle J
Current Diabetes Reports, ISSN 1534-4827, 9/2017, Volume 17, Issue 9, pp. 1 - 10
Deciphering the mechanisms of type 2 diabetes (T2DM) risk loci can greatly inform on disease pathology. This review discusses current knowledge of mechanisms... 
GWAS | Epigenomics | Medicine & Public Health | Gene regulation | Physiology | Diabetes | Human genetics | COMMON VARIANTS | DNA-BINDING | EPIGENOMIC ANALYSIS | OPEN CHROMATIN | SUSCEPTIBILITY LOCI | GENETIC ARCHITECTURE | OF-FUNCTION MUTATIONS | GLUCOSE-HOMEOSTASIS | ENDOCRINOLOGY & METABOLISM | BODY-MASS INDEX | GENOME-WIDE ASSOCIATION | Type 2 diabetes | Anopheles | Genes | Genomics | Physiological aspects | Muscles | Genetic transcription | Risk factors | Gene expression
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2. Full Text The miRNA Profile of Human Pancreatic Islets and Beta-Cells and Relationship to Type 2 Diabetes Pathogenesis
by van de Bunt, Martijn and Gaulton, Kyle J and Parts, Leopold and Moran, Ignasi and Johnson, Paul R and Lindgren, Cecilia M and Ferrer, Jorge and Gloyn, Anna L and McCarthy, Mark I
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, p. e55272
Recent advances in the understanding of the genetics of type 2 diabetes (T2D) susceptibility have focused attention on the regulation of transcriptional... 
TARGET | GENETIC ASSOCIATION | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY LOCI | RNAS | MICRORNAS | INSULIN SENSITIVITY | DIFFERENTIAL EXPRESSION ANALYSIS | GENOME-WIDE ASSOCIATION | Organ Specificity - genetics | Genetic Predisposition to Disease | Insulin-Secreting Cells - metabolism | Islets of Langerhans - metabolism | Diabetes Mellitus, Type 2 - genetics | Humans | Gene Expression Regulation | Gene Expression Profiling | MicroRNAs - genetics | Cluster Analysis | Type 2 diabetes | RNA sequencing | Pancreatic beta cells | MicroRNA | Analysis | Genomics | Development and progression | Genetic transcription | Enrichment | Flow cytometry | Biomedical research | Transcription | Laboratories | Pathogenesis | Gene regulation | Homeostasis | Fluorescence | Genomes | Glucose | Tissues | Human tissues | Gene sequencing | Control | Rodents | Genetics | Pancreas | Diabetes mellitus | MiRNA | Metabolism | Ribonucleic acid--RNA | Disease control | Insulin | Beta cells | MicroRNAs | Diabetes | Islets of Langerhans | Binding sites | Endocrinology | RNA | Ribonucleic acid
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3. Full Text Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors
by van de Bunt, Martijn and Manning Fox, Jocelyn E and Dai, Xiaoqing and Barrett, Amy and Grey, Caleb and Li, Lei and Bennett, Amanda J and Johnson, Paul R and Rajotte, Raymond V and Gaulton, Kyle J and Dermitzakis, Emmanouil T and MacDonald, Patrick E and McCarthy, Mark I and Gloyn, Anna L
PLoS Genetics, ISSN 1553-7390, 2015, Volume 11, Issue 12, p. e1005694
The intersection of genome-wide association analyses with physiological and functional data indicates that variants regulating islet gene transcription... 
VARIANTS | GLUCOSE | INSULIN-SECRETION | GENETICS & HEREDITY | RISK | RECEPTOR | PANCREATIC BETA-CELL | GENETIC ARCHITECTURE | LOCI | MECHANISMS | PROTEIN HZIMP10 | Genetic Predisposition to Disease | Genome-Wide Association Study | Signal Transduction | Exons | Diabetes Mellitus, Type 2 - genetics | Humans | Gene Expression Regulation | Transcription Factors - biosynthesis | Transcription Factors - genetics | Insulin - metabolism | Insulin-Secreting Cells - metabolism | Glucose - metabolism | Diabetes Mellitus, Type 2 - pathology | Insulin-Secreting Cells - pathology | Insulin - genetics | Insulin Secretion | Quantitative Trait Loci - genetics | Type 2 diabetes | Quantitative trait loci | Pancreatic beta cells | Genome-wide association studies | Genetic aspects | Gene expression | Observations | Health aspects | Medical research | Genealogy | Biomedical research | Genomics | Homeostasis | Principal components analysis | Biology | Genomes | Insulin | Studies | Archives & records | Rodents | Physiology | Diabetes | Pancreas
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4. Full Text The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease
by Moutsianas, Loukas and Agarwala, Vineeta and Fuchsberger, Christian and Flannick, Jason and Rivas, Manuel A and Gaulton, Kyle J and Albers, Patrick K and McVean, Gil and Boehnke, Michael and Altshuler, David and McCarthy, Mark I and GoT2D Consortium
PLoS Genetics, ISSN 1553-7390, 04/2015, Volume 11, Issue 4, p. e1005165
Genome and exome sequencing in large cohorts enables characterization of the role of rare variation in complex diseases. Success in this endeavor, however,... 
STATISTICAL TESTS | TRAITS | LINKAGE | CODING VARIANTS | GENETICS & HEREDITY | Genetic Variation | Models, Theoretical | Exome - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Phenotype | Computer Simulation | Diabetes Mellitus, Type 2 - genetics | Humans | Alleles | Genetic Diseases, Inborn | Linkage Disequilibrium | Studies | Hypothesis testing | Datasets | Hypotheses | Disease | Genes | Statistical methods | Software | Grants | Diabetes | Charitable foundations | Experiments
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5. Full Text Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations
by Liang, Jingjing and Le, Thu H and Edwards, Digna R. Velez and Tayo, Bamidele O and Gaulton, Kyle J and Smith, Jennifer A and Lu, Yingchang and Jensen, Richard A and Chen, Guanjie and Yanek, Lisa R and Schwander, Karen and Tajuddin, Salman M and Sofer, Tamar and Kim, Wonji and Kayima, James and McKenzie, Colin A and Fox, Ervin and Nalls, Michael A and Young, J. Hunter and Sun, Yan V and Lane, Jacqueline M and Cechova, Sylvia and Zhou, Jie and Tang, Hua and Fornage, Myriam and Musani, Solomon K and Wang, Heming and Lee, Juyoung and Adeyemo, Adebowale and Dreisbach, Albert W and Forrester, Terrence and Chu, Pei-Lun and Cappola, Anne and Evans, Michele K and Morrison, Alanna C and Martin, Lisa W and Wiggins, Kerri L and Hui, Qin and Zhao, Wei and Jackson, Rebecca D and Ware, Erin B and Faul, Jessica D and Reiner, Alex P and Bray, Michael and Denny, Joshua C and Mosley, Thomas H and Palmas, Walter and Guo, Xiuqing and Papanicolaou, George J and Penman, Alan D and Polak, Joseph F and Rice, Kenneth and Taylor, Ken D and Boerwinkle, Eric and Bottinger, Erwin P and Liu, Kiang and Risch, Neil and Hunt, Steven C and Kooperberg, Charles and Zonderman, Alan B and Laurie, Cathy C and Becker, Diane M and Cai, Jianwen and Loos, Ruth J. F and Psaty, Bruce M and Weir, David R and Kardia, Sharon L. R and Arnett, Donna K and Won, Sungho and Edwards, Todd L and Redline, Susan and Cooper, Richard S and Rao, D.C and Rotter, Jerome I and Rotimi, Charles and Levy, Daniel and Chakravarti, Aravinda and Zhu, Xiaofeng and Franceschini, Nora
PLoS Genetics, ISSN 1553-7390, 05/2017, Volume 13, Issue 5, p. e1006728
Hypertension is a leading cause of global disease, mortality, and disability. While individuals of African descent suffer a disproportionate burden of... 
II-INDUCED HYPERTENSION | HEART-DISEASE | METAANALYSIS | PROTEIN | SALT-SENSITIVE HYPERTENSION | GENETICS & HEREDITY | COMMON | RISK | GENETIC-VARIANTS | KIDNEY | CELL | Genome-Wide Association Study | Basic Helix-Loop-Helix Transcription Factors - genetics | Blood Pressure - genetics | Membrane Proteins - genetics | Humans | African Americans - genetics | Male | Genetic Loci | Multifactorial Inheritance | Case-Control Studies | Animals | Hypertension - ethnology | Female | Mice | Polymorphism, Single Nucleotide | Hypertension - genetics | Cadherins - genetics | Genome-wide association studies | Usage | Analysis | Africans | Genetic aspects | Blood pressure | Health aspects | Health care | Heart | Enrichment | Health sciences | Nephrology | Populations | Transcription | Laboratories | Genomics | Genes | Population studies | Genomes | Population genetics | Epidemiology | Functional anatomy | Aging | Genetics | Angiotensin II | Bioinformatics | Research centers | Descent | Public health | University colleges | Hypertension | Medical research | Internal medicine | Mortality | Principal components analysis | Preventive medicine | Metabolism | Gene expression | Loci | Ethnic factors | Studies | Angiotensin
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6. Full Text Identification of a Regulatory Variant That Binds FOXA1 and FOXA2 at the CDC123/CAMK1D Type 2 Diabetes GWAS Locus
by Fogarty, Marie P and Cannon, Maren E and Vadlamudi, Swarooparani and Gaulton, Kyle J and Mohlke, Karen L
PLoS Genetics, ISSN 1553-7390, 09/2014, Volume 10, Issue 9, p. e1004633
any of the type 2 diabetes loci identified through genome-wide association studies localize to non-protein-coding in and intergenic regions and likely contain... 
CELL-TYPE | PROVIDES INSIGHTS | P446L VARIANT | OPEN CHROMATIN | INITIATION | GLUCOSE | GENETICS & HEREDITY | SUSCEPTIBILITY LOCI | ENHANCERS | EXPRESSION | GENOME-WIDE ASSOCIATION | Hepatocyte Nuclear Factor 3-beta - metabolism | Cell Line | Calcium-Calmodulin-Dependent Protein Kinase Type 1 - genetics | Genome-Wide Association Study | Diabetes Mellitus, Type 2 - genetics | Humans | Regulatory Sequences, Nucleic Acid | Gene Expression Regulation | Diabetes Mellitus, Type 2 - metabolism | Genetic Loci | Hepatocytes - metabolism | Hepatocyte Nuclear Factor 3-alpha - metabolism | Genetic Variation | Animals | Enhancer Elements, Genetic | Islets of Langerhans - metabolism | Alleles | Cell Cycle Proteins - genetics | Protein Binding | Transcription, Genetic | Mice | Polymorphism, Single Nucleotide | Type 2 diabetes | Care and treatment | Analysis | Genetic aspects | Single nucleotide polymorphisms | Diagnosis | Protein binding | Transcription factors | Laboratories | Cell division | Genomes | Kinases | Gene expression | Experiments | Proteins | Studies | Genotype & phenotype | Rodents | Standard deviation | Diabetes | Chromosomes | Metabolic disorders | Binding sites
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7. Full Text Genome-wide associations for birth weight and correlations with adult disease
by Horikoshi, Momoko and Beaumont, R.N and Day, Felix and Warrington, Nicole and Kooijman, Marjolein and Fernandez-Tajes, Juan and Feenstra, Bjarke and Van Zuydam, Natalie R and Gaulton, Kyle and Grarup, Niels and Bradfield, Jonathan and Strachan, David and Li-Gao, R and Ahluwalia, Tarunveer Singh and Kreiner, E and Rueedi, R and Lyytikäinen, Leo-Pekka and Cousminer, Diana and Wu, Ying and Thiering, Elisabeth and Wang, Carol A and Have, Christian T and Hottenga, Jouke Jan and Vilor-Tejedor, Natàlia and Joshi, Peter and Boh, E.T.H and Ntalla, Ioanna and Pitkanen, Niina and Mahajan, Anubha and Leeuwen, Elisa and Joro, Raimo and Lagou, Vasiliki and Nodzenski, Michael and Diver, L.A and Zondervan, Krina and Bustamante, Mariona and Marques-Vidal, Peo and Mercader, Josep and Bennett, Amanda and Rahmioglu, Nilufer and Nyholt, Dale and Ma, R.C.W and Tam, C.H.T and Tam, W.H and Ganesh, Santhi and Rooij, Frank and Jones, Samuel E and Loh, Po-Ru and Ruth, Katherine S and Tuke, M.A and Tyrrell, A.W.R and Wood, Anew and Yaghootkar, Hanieh and Scholtens, Denise M and Paternoster, Lavinia and Prokopenko, Inga and Kovacs, Peter and Atalay, Mustafa and Willems, Sara and Panoutsopoulou, K and Wang, Xu and Carstensen, Lisbeth and Geller, Frank and Schraut, K.E and Murcia, Mario and Beijsterveldt, Toos and Willemsen, Gonneke and Appel, E.V.R and Fonvig, C.E and Trier, C and Tiesler, C.M.T and Standl, Eberhard and Kutalik, Zoltán and Bonàs-Guarch, Silvia and Hougaard, David and Sánchez, F and Torrents, David and Waage, Johannes and Hollegaard, Mads V and De Haan, Hugoline G and Rosendaal, Frits and Medina-Gomez, C and Ring, Susan and Hemani, G and Mcmahon, George and Robertson, Neil and Groves, Christopher and Langenberg, Claudia and Luan, Jian'An and Scott, Robert and Zhao, Jing Hua and Mentch, Frank and MacKenzie, S.M and Reynolds, Rebecca and Lowe Jr., William and Tönjes, Anke and Stumvoll, Michael and Lindi, Virpi and Lakka, Timo and Duijn, Cornelia and ... and EGG Consortium and CHARGE Consortium Hematology Worki and CHARGE Consortium Hematology Working Group and Early Growth Genetics (EGG) Consortium
Nature: international weekly journal of science, ISSN 0028-0836, 01/2016, Volume 538, Issue 7624, pp. 248 - 252
textabstractBirth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with... 
HUMAN HEIGHT | POPULATION | ALTITUDE ADAPTATION | METAANALYSIS | VARIANTS | GENOTYPE IMPUTATION | MULTIDISCIPLINARY SCIENCES | GENE-EXPRESSION | LOCI | TRAITS | BLOOD-PRESSURE | Blood Pressure - genetics | Anthropometry | Diabetes Mellitus, Type 2 - genetics | Humans | Fetus - metabolism | Genetic Loci - genetics | Male | Aging - genetics | Glycogen - biosynthesis | Adult | Female | Genetic Predisposition to Disease | Genome-Wide Association Study | Datasets as Topic | Signal Transduction | Chromatin Assembly and Disassembly | Genotype | Birth Weight - genetics | Genomic Imprinting - genetics | Insulin - metabolism | Phenotype | Coronary Artery Disease - genetics | Glucose - metabolism | Genetic Variation - genetics | Cohort Studies | Genome-wide association studies | Birth size | Metabolic diseases | Genetic aspects | Birth weight | Cardiovascular diseases | Health aspects | Risk factors | Studies | Genomes | Disease | Correlation analysis
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8. Full Text Lipid-Induced Epigenomic Changes in Human Macrophages Identify a Coronary Artery Disease-Associated Variant that Regulates PPAP2B Expression through Altered C/EBP-Beta Binding
by Reschen, Michael E and Gaulton, Kyle J and Lin, Da and Soilleux, Elizabeth J and Morris, Andrew J and Smyth, Susan S and O'Callaghan, Christopher A
PLoS Genetics, ISSN 1553-7390, 04/2015, Volume 11, Issue 4, p. e1005061
Genome-wide association studies (GWAS) have identified over 40 loci that affect risk of coronary artery disease (CAD) and the causal mechanisms at the majority... 
GLUCOCORTICOID-RECEPTOR BINDING | FORMALDEHYDE-ASSISTED ISOLATION | GENETIC-VARIATION | LYSOPHOSPHATIDIC ACID | MYOCARDIAL-INFARCTION | OPEN CHROMATIN | PHOSPHATASE LPP3 | GENETICS & HEREDITY | LOW-DENSITY-LIPOPROTEIN | ENDOTHELIAL-CELL | GENOME-WIDE ASSOCIATION | Plaque, Atherosclerotic - genetics | Plaque, Atherosclerotic - metabolism | Epigenesis, Genetic | Humans | Cells, Cultured | Phosphatidate Phosphatase - metabolism | Lipoproteins, LDL - pharmacology | Phosphatidate Phosphatase - genetics | Genetic Loci | CCAAT-Enhancer-Binding Protein-beta - metabolism | Foam Cells - drug effects | Coronary Artery Disease - genetics | Protein Binding | Polymorphism, Single Nucleotide | Foam Cells - metabolism | Transcription factors | Biomedical research | Cardiovascular disease | Lipids | Genomes | Gene expression | Cholesterol | Proteins | Studies | Atherosclerosis | Influence | Gene loci | Health risk assessment
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9. Full Text Detection of human adaptation during the past 2000 years
by Field, Yair and Boyle, Evan A and Telis, Natalie and Gao, Ziyue and Gaulton, Kyle J and Golan, David and Yengo, Loic and Rocheleau, Ghislain and Froguel, Philippe and McCarthy, Mark I and Pritchard, Jonathan K
Science, ISSN 0036-8075, 11/2016, Volume 354, Issue 6313, pp. 760 - 764
Detection of recent natural selection is a challenging problem in population genetics. Here we introduce the singleton density score (SDS), a method to infer... 
EUROPE | HUMAN HEIGHT | SOFT SWEEPS | POSITIVE SELECTION | MULTIDISCIPLINARY SCIENCES | NATURAL-SELECTION | SNPS | HUMAN EXOMES | STANDING GENETIC-VARIATION | PIGMENTATION | Haplotypes | Genome-Wide Association Study | Major Histocompatibility Complex - genetics | Gene Frequency | Hair Color - genetics | Selection, Genetic | United Kingdom | Eye Color - genetics | Genetic Loci | Humans - genetics | Lactase - genetics | Adaptation, Physiological - genetics | Pedigree | Genome, Human | Genetic research | Adaptation (Biology) | Research | Population genetics | Evolutionary biology | Density | Genomes | Hair | Frequency shift | Lactase | Genes | Genetics | Adaptation
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10. Full Text Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants
by Pasquali, Lorenzo and Gaulton, Kyle J and Rodríguez-Seguí, Santiago A and Mularoni, Loris and Miguel-Escalada, Irene and Akerman, Ildem and Tena, Juan J and Morán, Ignasi and Gómez-Marín, Carlos and Van De Bunt, Martijn and Ponsa-Cobas, Joan and Castro, Natalia and Nammo, Takao and Cebola, Inês and García-Hurtado, Javier and Maestro, Miguel Angel and Pattou, François and Piemonti, Lorenzo and Berney, Thierry and Gloyn, Anna L and Ravassard, Philippe and Skarmeta, José Luis Gómez and Müller, Ferenc and Mccarthy, Mark I and Ferrer, Jorge
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 136 - 143
Type 2 diabetes affects over 300 million people, causing severe complications and premature death, yet the underlying molecular mechanisms are largely unknown.... 
TRANSCRIPTION FACTORS | PROVIDES INSIGHTS | HUMAN GENOME | SUPER-ENHANCERS | CHROMATIN | LIVER | GENETICS & HEREDITY | GENE-EXPRESSION | BETA-CELL | HISTONE MODIFICATIONS | REGULATORY REGIONS | Chromatin - metabolism | Genome-Wide Association Study