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Träfflista för sökning "WFRF:(Gur Raquel E.) "

Sökning: WFRF:(Gur Raquel E.)

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1.
  • Thompson, P. M., et al. (författare)
  • The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data
  • 2014
  • Ingår i: BRAIN IMAGING BEHAV. - 1931-7557. ; 8:2, s. 153-182
  • Tidskriftsartikel (refereegranskat)abstract
    • The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.
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2.
  • Huckins, Laura M., et al. (författare)
  • Gene expression imputation across multiple brain regions provides insights into schizophrenia risk
  • 2019
  • Ingår i: Nature genetics. - 1546-1718. ; 51:4, s. 659-
  • Tidskriftsartikel (refereegranskat)abstract
    • Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex genome-wide association study (GWAS) loci and may disentangle the role of different tissues in disease development. We used the largest eQTL reference panel for the dorso-lateral prefrontal cortex (DLPFC) to create a set of gene expression predictors and demonstrate their utility. We applied DLPFC and 12 GTEx-brain predictors to 40,299 schizophrenia cases and 65,264 matched controls for a large transcriptomic imputation study of schizophrenia. We identified 413 genic associations across 13 brain regions. Stepwise conditioning identified 67 non-MHC genes, of which 14 did not fall within previous GWAS loci. We identified 36 significantly enriched pathways, including hexosaminidase-A deficiency, and multiple porphyric disorder pathways. We investigated developmental expression patterns among the 67 non-MHC genes and identified specific groups of pre- and postnatal expression.
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3.
  • Leitman, David I., et al. (författare)
  • Not pitch perfect : Sensory contributions to affective communication impairment in schizophrenia
  • 2011
  • Ingår i: Biological Psychiatry. - Elsevier. - 0006-3223. ; 70:7, s. 611-618
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Schizophrenia patients have vocal affect (prosody) deficits that are treatment resistant and associated with negativesymptoms and poor outcome. The neural correlates of this dysfunction are unclear. Prior study has suggested that schizophrenia vocal affectperception deficits stem from an inability to use acoustic cues, notably pitch, in decoding emotion.Methods: Functional magnetic resonance imaging was performed in 24 schizophrenia patients and 28 healthy control subjects, during theperformance of a four-choice (happiness, fear, anger, neutral) vocal affect identification task in which items for each emotion variedparametrically in affective salient acoustic cue levels.Results: We observed that parametric increases in cue levels in schizophrenia failed to produce the same identification rate increases as incontrol subjects. These deficits correlated with diminished reciprocal activation changes in superior temporal and inferior frontal gyri andreduced temporo-frontal connectivity. Task activation also correlated with independent measures of pitch perception and negativesymptom severity.Conclusions: These findings illustrate the interplay between sensory and higher-order cognitive dysfunction in schizophrenia. Sensorycontributions to vocal affect deficits also suggest that this neurobehavioral marker could be targeted by pharmacological or behavioralremediation of acoustic feature discrimination.
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