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Imaging–Genetics Applications in Child Psychiatry

Daniel S. Pine, Monique Ernst, Ellen Leibenluft
2010 Journal of the American Academy of Child and Adolescent Psychiatry  
Next, we review findings from studies that begin by selecting specific genes and then use imaging to relate these genes to brain function and ultimately to clinical phenotypes.  ...  Work is then described on phenotype selection in imaging genetics. Conclusions-Child psychiatry applications of imaging genetics are only beginning to emerge.  ...  , thereby allowing basic-to-clinical translation. 5 Phenotype-Genotype Orientation Imaging-genetics studies in child psychiatry can be classified based on their starting point.  ... 
doi:10.1016/j.jaac.2009.12.022 pmid:20643311 pmcid:PMC2997350 fatcat:t6psmkjzwfgaharqj7sc5xpzfy

From the genome to the phenome and back: linking genes with human brain function and structure using genetically informed neuroimaging

H.R. Siebner, J.H. Callicott, T. Sommer, V.S. Mattay
2009 Neuroscience  
This special issue on "Linking Genes to Brain Function in Health and Disease" provides an overview over how the "imaging genetics" approach is currently applied in the various fields of systems neuroscience  ...  Several proof-of-principle studies provided converging evidence that brain imaging can establish important links between genes and behaviour.  ...  However, amenability for relatively high throughput phenotyping is certainly also an aspect to consider in future imaging genetics studies.  ... 
doi:10.1016/j.neuroscience.2009.09.009 pmid:19751805 pmcid:PMC3013363 fatcat:4dgxm5vxdvdhxg6b4gviogs4cq

Logical and Methodological Issues Affecting Genetic Studies of Humans Reported in Top Neuroscience Journals

Clara R. Grabitz, Katherine S. Button, Marcus R. Munafò, Dianne F. Newbury, Cyril R. Pernet, Paul A. Thompson, Dorothy V. M. Bishop
2018 Journal of Cognitive Neuroscience  
Furthermore, only a minority of studies used statistical methods for multiple comparisons that took into account correlations between phenotypes or genotypes, and only nine studies included a replication  ...  Studies need to correct not just for the number of phenotypes collected but also for the number of genotypes examined, genetic models tested, and subsamples investigated.  ...  Table 1 . 1 Corrections for Multiple Comparisons in Relation to N Subgroups, Genetic Models, Polymorphisms, and Imaging Regions Study Subgroups Models Polymorphisms Phenotypes Imaging Regions All Combinations  ... 
doi:10.1162/jocn_a_01192 pmid:28949821 fatcat:cmyaigsoirbbjhiyy63lubvd7u

Effects of Neuregulin 3 Genotype on Human Prefrontal Cortex Physiology

Heike Tost, Joseph H. Callicott, Roberta Rasetti, Radhakrishna Vakkalanka, Venkata S. Mattay, Daniel R. Weinberger, Amanda J. Law
2014 Journal of Neuroscience  
In 410 control individuals (195 males, 215 females), we detected a highly significant effect of NRG3 genotype manifesting as an unanticipated increase in ventrolateral PFC activation in nonrisk-associated  ...  These observed genotype-dependent effects in PFC were not explained by task performance and did not conform to established locales of prefrontal inefficiency linked to genetic risk for schizophrenia.  ...  level in healthy siblings of patients, which was not evident in the areas showing NRG3 genotype effects in this study.  ... 
doi:10.1523/jneurosci.3496-13.2014 pmid:24431462 pmcid:PMC3891948 fatcat:tx6d2djle5anfjbyhqvhrrdzdu

Shaping the Trans-Scale Properties of Schizophrenia via Cerebral Alterations on Magnetic Resonance Imaging and Single-Nucleotide Polymorphisms of Coding and Non-Coding Regions

Shu-Wan Zhao, Xian Xu, Xian-Yang Wang, Tian-Cai Yan, Yang Cao, Qing-Hong Yan, Kun Chen, Yin-Chuan Jin, Ya-Hong Zhang, Hong Yin, Long-Biao Cui
2021 Frontiers in Human Neuroscience  
Recently, the development of trans-scale and multi-omics methods that integrate gene and imaging information sheds new light on the nature of schizophrenia.  ...  In this article, we summarized the results of brain structural and functional changes related to the specific single-nucleotide polymorphisms (SNPs) in the past decade, and the SNPs were divided into non-coding  ...  MRI plays an increasingly important role in the study of brain phenotypes and differential diagnosis of mental disorders.  ... 
doi:10.3389/fnhum.2021.720239 pmid:34566604 pmcid:PMC8458928 fatcat:iqjwhqd4j5bo3d55wofw3nlmhi

Brain Monoamine Oxidase A Activity Predicts Trait Aggression

N. Alia-Klein, R. Z. Goldstein, A. Kriplani, J. Logan, D. Tomasi, B. Williams, F. Telang, E. Shumay, A. Biegon, I. W. Craig, F. Henn, G.-J. Wang (+2 others)
2008 Journal of Neuroscience  
in a number of externalizing behavioral and clinical phenotypes.  ...  These studies provide evidence linking the low MAOA genotype and violent behavior but only through interaction with severe environmental stressors during childhood.  ...  Clearly, the degree of exposure to stress would be an important variable to measure in future imaging studies.  ... 
doi:10.1523/jneurosci.0925-08.2008 pmid:18463263 pmcid:PMC2430409 fatcat:3flkpemu3rafhi36l6mkcsddq4

C9orf72 Dipeptide Repeats Cause Selective Neurodegeneration and Cell-Autonomous Excitotoxicity inDrosophilaGlutamatergic Neurons

Wangchao Xu, Jin Xu
2018 Journal of Neuroscience  
to neurodegenerative phenotypes only when they were expressed in glutamatergic neurons, including motor neurons.  ...  Therefore, this study has advanced our understanding of C9orf72 DPR functions in synaptic regulation and excitotoxicity and provided a new mechanism that could contribute to the development of C9-related  ...  A, B, Confocal images of muscle 4 NMJs double-stained with Brp and HRP. The magnified images of the rectangle areas are shown in B. Control genotype: vGlut-Gal4/ϩ.  ... 
doi:10.1523/jneurosci.0908-18.2018 pmid:30037833 fatcat:jfc5l4z355fxzndf2t5fmige7m

Epilepsy genetics: clinical beginnings and social consequences

J.A. Johnston, M.I. Rees, P.E.M. Smith
2009 QJM: Quarterly journal of medicine  
Future developments in pharmacogenomics hold the promise of antiepileptic drugs matched to specific genotypes.  ...  The discovery of ion channel dysfunction through Mendelian family studies has provided a benchmark for future discoveries in epilepsy neuroscience and is likely to change epilepsy classification.  ... 
doi:10.1093/qjmed/hcp019 pmid:19286890 fatcat:6l4tt64rs5b6lcktmqxve6vpcq

Hippocampal Function in Healthy Carriers of the CLU Alzheimer's Disease Risk Variant

S. Erk, A. Meyer-Lindenberg, C. Opitz von Boberfeld, C. Esslinger, K. Schnell, P. Kirsch, M. Mattheisen, T. W. Muhleisen, S. Cichon, S. H. Witt, M. Rietschel, M. M. Nothen (+1 others)
2011 Journal of Neuroscience  
Here we show, using an imaging genetics approach in a large genotyped sample, that healthy carriers of the variant exhibit altered coupling between hippocampus and prefrontal cortex during memory processing  ...  , mirroring clinical evidence of disturbed connectivity in patients and providing a neurogenetic mechanism for CLU-associated risk and protection.  ...  This challenge leads to the strategy of studying underlying quantitative traits that are more directly related to biology, namely brain activation as intermediate phenotype in an imaging genetics approach  ... 
doi:10.1523/jneurosci.4960-11.2011 pmid:22159129 pmcid:PMC6634131 fatcat:2b5mi32xvjeblb4ri5hpyyvu5u

Comprehensive behavioral analysis of pituitary adenylate cyclase-activating polypeptide (PACAP) knockout mice

Satoko Hattori, Keizo Takao, Koichi Tanda, Keiko Toyama, Norihito Shintani, Akemichi Baba, Hitoshi Hashimoto, Tsuyoshi Miyakawa
2012 Frontiers in Behavioral Neuroscience  
Previous study demonstrates that the social interaction (SI) in a resident-intruder test was decreased in PACAP KO mice.  ...  As shown previously, the mice exhibited significantly increased locomotor activity in a novel environment and abnormal anxiety-like behavior, while no obvious differences between genotypes were shown in  ...  The behavioral tests that were used for phenotyping of PACAP KO mice in previous studies were also included in this test battery.  ... 
doi:10.3389/fnbeh.2012.00058 pmid:23060763 pmcid:PMC3462416 fatcat:d46w66l2vvci7poms7etaqehv4

Neurocognitive deficits and diffusion MR imaging abnormalities in a case of adult-onset autosomal dominant leukodystrophy

Robert Laforce, Martin Roy, Maxime Descoteaux, Christian Berthelot, Jean-Pierre Bouchard
2013 Translational Neuroscience  
Since the first description in 1984, no authors have reported on its neurocognitive sequelae or attempted to quantify the severity of white matter changes.  ...  Herein we report a case of ADLD presenting with progressive cognitive changes leading to dementia and its associated white matter damage using diffusion MR imaging.  ...  Acknowledgements This study was supported by a grant from 'La fondation sur les leucodystrophies' to Dr Robert Jr Laforce. [1] Meyers J., Meyers K., The Rey Complex Figure and the Recognition Trial  ... 
doi:10.2478/s13380-013-0142-1 fatcat:ikbq73t42ngtraxloe44dysnue

Choosing Phenotypes for Multivariate association and linkage analyses [article]

Kochunov Peter
2017 Figshare  
Talk given during the "Introduction to Imaging Genetics" workshop at the 2013 Organization for Human Brain Mapping (OHBM) conference in Seattle, 16-20 June.  ...  • Increased power of genetic discovery • For pleiotropic traits • Reduced genotype-by-environment interactions • Genotype by environment (fixed-factor) interaction may rob power in univariate analyses  ...  studies • Best used in family/twin studies • Shared genetic variance can be measured Example of multivariate analysis: Endophenotype Ranking Value (ERV)* ERV takes value between 0 and 1.0 ERV  ... 
doi:10.6084/m9.figshare.5484313 fatcat:4bivknesjjbhvnd3spit6uidy4

In Vivo Magnetic Resonance Imaging and Semiautomated Image Analysis Extend the Brain Phenotype for cdf/cdf Mice

N. A. Bock
2006 Journal of Neuroscience  
Here, we demonstrate the effectiveness of a similar strategy for mouse neuroscience studies by phenotyping mice with the cerebellar deficient folia (cdf) mutation.  ...  Magnetic resonance imaging and computer image analysis in human clinical studies effectively identify abnormal neuroanatomy in disease populations.  ...  The combination of high-throughput MMMRI and image analysis techniques brings mouse neuroscience closer to human neuroscience and will enable strong translational phenotyping studies in the future. .  ... 
doi:10.1523/jneurosci.5438-05.2006 pmid:16641223 pmcid:PMC6674055 fatcat:nb4vvikruretbbefksc2czdtte

Small animal imaging presents an opportunity for improving translational research in biological psychiatry

M. Mallar Chakravarty, Elisa Guma
2021 Journal of Psychiatry & Neuroscience  
risk factors or genotypes is critical to future studies using neuroimaging and small-animal models.  ...  Opportunities to use small animal imaging for discovery in biological psychiatry Small animal neuroimaging is one of the few techniques in neuroscience where investigations in human and clinical populations  ...  in any medium, provided that the original publication is properly cited, the use is noncommercial (i.e., research or educational use), and no modifications or adaptations are made.  ... 
doi:10.1503/jpn.210172 pmid:34670841 pmcid:PMC8532952 fatcat:a3agkcuvwnfcpexxnxsxfwfakm

Drosophila Fragile X Mental Retardation Protein and Metabotropic Glutamate Receptor A Convergently Regulate the Synaptic Ratio of Ionotropic Glutamate Receptor Subclasses

L. Pan, K. S. Broadie
2007 Journal of Neuroscience  
In this study, we use the Drosophila fragile X model to test this hypothesis at the well characterized glutamatergic neuromuscular junction (NMJ).  ...  Targeted postsynaptic dmGluRA overexpression causes the exact opposite GluR phenotype to the dfmr1 null, confirming postsynaptic GluR subtype-specific regulation.  ...  For any given experiment, animals of control and mutant genotypes were simultaneously processed, together in the same tube, and imaged using identical confocal settings.  ... 
doi:10.1523/jneurosci.2970-07.2007 pmid:17989302 pmcid:PMC6673270 fatcat:4f25c5mubbc4fc76oml42lkmqi
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