39 Result(s)
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Article
Lude Franke
Science, Humanities and Social Sciences, multidisciplinary
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Article
Seventy-five genetic loci influencing the human red blood cell
Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cel...
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Genetics of rheumatoid arthritis contributes to biology and drug discovery
A genome-wide association study meta-analysis of more than 100,000 subjects of European and Asian ancestries reveals 42 new risk loci for rheumatoid arthritis, with follow-up studies identifying 98 biological ...
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Article
RETRACTED ARTICLE: Detection and replication of epistasis influencing transcription in humans
Epistasis has rarely been shown among natural polymorphisms in human traits; this research using advanced computation and gene expression data reveals many instances of epistasis between common single nucleoti...
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Article
Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia
Candidaemia is the fourth most common cause of bloodstream infection, with a high mortality rate of up to 40%. Identification of host genetic factors that confer susceptibility to candidaemia may aid in design...
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Hemani et al. reply
Replying to A. R. Wood et al. Nature 514, 10.1038/nature13691 (2014).
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Article
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Here 106 genomic loci associated with age at menarche, a marker of puberty timing in females, are identified; these loci show enrichment for genes involved in nuclear hormone receptor function, body mass index...
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Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population st...
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Biological interpretation of genome-wide association studies using predicted gene functions
The main challenge for gaining biological insights from genetic associations is identifying which genes and pathways explain the associations. Here we present DEPICT, an integrative tool that employs predicted...
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New genetic loci link adipose and insulin biology to body fat distribution
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distr...
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Genetic studies of body mass index yield new insights for obesity biology
Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), ...
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Correction: Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
Nature Communications 5: Artice number: 4926 (2014); Published 29 October 2014; Updated 30 March 2015. The original version of this Article contained an error in the spelling of the author Jonas Hälldin, which...
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Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels
Metabolites are small molecules involved in cellular metabolism, which can be detected in biological samples using metabolomic techniques. Here we present the results of genome-wide association and meta-analys...
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Open AccessThe transcriptional landscape of age in human peripheral blood
Disease incidences increase with age, but the molecular characteristics of ageing that lead to increased disease susceptibility remain inadequately understood. Here we perform a whole-blood gene expression met...
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Open AccessGenetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated gl...
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Open AccessNew loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk
To increase our understanding of the genetic basis of adiposity and its links to cardiometabolic disease risk, we conducted a genome-wide association meta-analysis of body fat percentage (BF%) in up to 100,716...
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Genome-wide association study identifies 74 loci associated with educational attainment
A genome-wide association study in 293,723 individuals identifies 74 genetic variants associated with educational attainment, which, although only explaining a small proportion of the variation in educational ...
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Open AccessThe landscape of chromosomal aberrations in breast cancer mouse models reveals driver-specific routes to tumorigenesis
Aneuploidy and copy-number alterations (CNAs) are a hallmark of human cancer. Although genetically engineered mouse models (GEMMs) are commonly used to model human cancer, their chromosomal landscapes remain u...
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Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity
A large-scale epigenome-wide association study identifies changes in DNA methylation associated with body mass index in blood and adipose tissue, and correlates DNA methylation sites with high risk of incident...
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Endothelial TLR4 and the microbiome drive cerebral cavernous malformations
Cerebral cavernous malformations (CCMs) are a cause of stroke and seizure for which no effective medical therapies yet exist. CCMs arise from the loss of an adaptor complex that negatively regulates MEKK3–KLF2...
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Open AccessCNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits ...
