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Showing 1–18 of 18 results
Advanced filters: Author: Ines Erdmann Clear advanced filters

  • Charcot–Marie–Tooth (CMT) neuropathy is associated with dominant mutations in five tRNA synthetase genes. Niehues et al. use BONCAT and FUNCAT to monitor proteome dynamics in a DrosophilaCMT model, and reveal that these mutations result in translational slowdown.

    • Sven Niehues
    • Julia Bussmann
    • Erik Storkebaum
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-13

  • Mutated tRNA synthetases can incorporate non-canonical amino acids into proteins. Erdmann et al. exploit this property to metabolically label newly synthesized proteins in selected cell types in Drosophila, and demonstrate their detection using proteomics (BONCAT) and fluorescence imaging (FUNCAT).

    • Ines Erdmann
    • Kathrin Marter
    • Daniela C. Dieterich
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-11

  • Panos Deloukas, Nilesh Samani and colleagues report a large-scale association analysis using the Metabochip array in 63,746 coronary artery disease cases and 130,681 controls. They identify 15 susceptibility loci, refine previous associations and use network analysis to highlight biological pathways.

    • Panos Deloukas
    • Stavroula Kanoni
    • Nilesh J Samani
    Research
    Nature Genetics
    Volume: 45, P: 25-33

  • Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci significantly associated with adult height and find that these variants cluster in pathways involved in growth and together explain one-fifth of the heritability for this trait.

    • Andrew R Wood
    • Tonu Esko
    • Timothy M Frayling
    Research
    Nature Genetics
    Volume: 46, P: 1173-1186

  • Lipid concentration in the serum is one of the most important risk factors for coronary artery disease and can be targeted for therapeutic intervention. A genome-wide association study in >100,000 individuals of European ancestry now finds 95 significantly associated loci that also affect lipid traits in non-European populations. Among associated loci are those involved in cholesterol metabolism, known targets of cholesterol-lowering drugs and those that contribute to normal variation in lipid traits and to extreme lipid phenotypes.

    • Tanya M. Teslovich
    • Kiran Musunuru
    • Sekar Kathiresan
    Research
    Nature
    Volume: 466, P: 707-713

  • Lineage-restricted transcription factor PAX8 is oncogenic in ovarian cancer cells. Here the authors show that PAX8 interacts and recruits a splice variant of the MECOM locus PRDM3 to control the gene expression module involved in adhesion and extracellular matrix, and consequently promotes ovarian tumorigenesis.

    • Melusine Bleu
    • Fanny Mermet-Meillon
    • Giorgio Giacomo Galli
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-12

  • A genome-wide association study and Metabochip meta-analysis of body mass index (BMI) detects 97 BMI-associated loci, of which 56 were novel, and many loci have effects on other metabolic phenotypes; pathway analyses implicate the central nervous system in obesity susceptibility and new pathways such as those related to synaptic function, energy metabolism, lipid biology and adipogenesis.

    • Adam E. Locke
    • Bratati Kahali
    • Elizabeth K. Speliotes
    Research
    Nature
    Volume: 518, P: 197-206

  • Patricia Munroe, Christopher Newton-Cheh, Andrew Morris and colleagues perform association studies in over 340,000 individuals of European ancestry and identify 66 loci, of which 17 are novel, involved in blood pressure regulation. The risk SNPs are enriched for cis-regulatory elements, particularly in vascular endothelial cells.

    • Georg B Ehret
    • Teresa Ferreira
    • Patricia B Munroe
    Research
    Nature Genetics
    Volume: 48, P: 1171-1184

  • Erik Ingelsson and colleagues report a large-scale genome-wide meta-analysis for associations to the extremes of anthropometric traits, including body mass index, height, waist-to-hip ratio and clinical obesity. They identify four loci newly associated with height and seven loci newly associated with clinical obesity and find overlap in the genetic structure and distribution of variants identified for these extremes of the trait distributions and for the general population.

    • Sonja I Berndt
    • Stefan Gustafsson
    • Erik Ingelsson
    Research
    Nature Genetics
    Volume: 45, P: 501-512

  • Reduced glomerular filtration rate (eGFR) is a hallmark of chronic kidney disease. Here, Pattaro et al. conduct a meta-analysis to discover several new loci associated with variation in eGFR and find that genes associated with eGFR loci often encode proteins potentially related to kidney development.

    • Cristian Pattaro
    • Alexander Teumer
    • Caroline S. Fox
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-19

  • This very large genome-wide association study identifies hundreds of new genetic variants influencing adult height in at least 180 loci enriched for genes involved in skeletal growth defects. The results show that the likely causal gene is often located near the most strongly associated variant, that many loci have multiple independently associated variants and that associated variants are enriched for likely functional effects on genes.

    • Hana Lango Allen
    • Karol Estrada
    • Joel N. Hirschhorn
    Research
    Nature
    Volume: 467, P: 832-838

  • Using whole-genome data for single-nucleotide polymorphism and results from genome-wide association studies, the authors show that people’s preference for pairing with those with similar phenotypic traits has genetic causes and consequences.

    • Matthew R. Robinson
    • Aaron Kleinman
    • Peter M. Visscher
    Research
    Nature Human Behaviour
    Volume: 1, P: 1-13