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Showing 1–18 of 18 results
Advanced filters: Author: Daniah Trabzuni Clear advanced filters

  • Men and women differ in terms of their neurochemistry, behaviour and susceptibility to disease. Here the authors show that sex differences in gene expression and splicing are widespread in adult human brain, and that sex-biased expression is likely to have functional consequences.

    • Daniah Trabzuni
    • Adaikalavan Ramasamy
    • Mina Ryten
    ResearchOpen Access
    Nature Communications
    Volume: 4, P: 1-7

  • Expression quantitative trait loci (eQTLs) are genomic regions that regulate gene expression. Here the authors provide a publicly available data set of exon-level eQTLs across the human brain. This includes many genome-wide association study (GWAS) hits for neurological and psychiatric disorders.

    • Adaikalavan Ramasamy
    • Daniah Trabzuni
    • Michael E Weale
    Research
    Nature Neuroscience
    Volume: 17, P: 1418-1428

  • Regulation of gene expression and splicing are thought to be tissue-specific. Here, the authors obtain genomic and transcriptomic data from putamen and substantia nigra of 117 neurologically healthy human brains and find that splicing eQTLs are enriched for neuron-specific regulatory information.

    • Sebastian Guelfi
    • Karishma D’Sa
    • Mina Ryten
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-16

  • The natural antisense transcript MAPT-AS1 interferes with translation of mRNA transcript into tau protein in the brain and may represent a general mechanism for controlling levels of intrinsically disordered proteins, with particular relevance for neurodegeneration.

    • Roberto Simone
    • Faiza Javad
    • Rohan de Silva
    Research
    Nature
    Volume: 594, P: 117-123

  • The hippocampus in mammalian brain varies in size across individuals. Here, Hibar and colleagues perform a genome-wide association meta-analysis to find six genetic loci with significant association to hippocampus volume.

    • Derrek P. Hibar
    • Hieab H. H. Adams
    • M. Arfan Ikram
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-12

  • In a GWAS study of 32,438 adults, the authors discovered five novel loci for intracranial volume and confirmed two known signals. Variants for intracranial volume were also related to childhood and adult cognitive function and to Parkinson's disease, and enriched near genes involved in growth pathways, including PI3K-AKT signaling.

    • Hieab H H Adams
    • Derrek P Hibar
    • Paul M Thompson
    Research
    Nature Neuroscience
    Volume: 19, P: 1569-1582

  • Genome-wide association studies are used to identify common genetic variants that affect the structure of selected subcortical regions of the human brain; their identification provides insight into the causes of variability in brain development and may help to determine mechanisms of neuropsychiatric dysfunction.

    • Derrek P. Hibar
    • Jason L. Stein
    • Sarah E. Medland
    Research
    Nature
    Volume: 520, P: 224-229

  • Highly conserved recursive splice sites are identified in vertebrates, particularly within long genes encoding proteins that are involved in neuronal development; analysis of the splicing mechanism reveals that such recursive splicing sites can be used to dictate different mRNA isoforms.

    • Christopher R. Sibley
    • Warren Emmett
    • Jernej Ule
    Research
    Nature
    Volume: 521, P: 371-375

  • Verneri Anttila and colleagues report meta-analysis of 29 genome-wide association studies for migraine. They identify five loci newly associated with migraine, three of which are associated with specific subtypes of migraine with or without aura.

    • Verneri Anttila
    • Bendik S Winsvold
    • Aarno Palotie
    Research
    Nature Genetics
    Volume: 45, P: 912-917

  • There is currently no disease-modifying treatment for Parkinson’s disease, a common neurodegenerative disorder. Here, the authors use genetic variation associated with gene and protein expression to find putative drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome.

    • Catherine S. Storm
    • Demis A. Kia
    • Nicholas W. Wood
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-14

  • The authors defined a roadmap for investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders. Their proof-of-concept study using the largest available common variant data sets for schizophrenia and volumes of several (mainly subcortical) brain structures did not find evidence of genetic overlap.

    • Barbara Franke
    • Jason L Stein
    • Patrick F Sullivan
    Research
    Nature Neuroscience
    Volume: 19, P: 420-431

  • Ageing increases the risk of many diseases. Here the authors compare blood cell transcriptomes of over 14,000 individuals and identify a set of about 1,500 genes that are differently expressed with age, shedding light on transcriptional programs linked to the ageing process and age-associated diseases.

    • Marjolein J. Peters
    • Roby Joehanes
    • Andrew D. Johnson
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-14

  • Whole-exome sequencing reveals that a rare variant of phospholipase D3 (PLD3(V232M)) segregates with Alzheimer’s disease status in two independent families and doubles risk for the disease in case–control series, and that several other PLD3 variants increase risk for Alzheimer’s disease in African Americans and people of European descent.

    • Carlos Cruchaga
    • Celeste M. Karch
    • Alison M. Goate
    Research
    Nature
    Volume: 505, P: 550-554