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Endophenotypes

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https://www.readbyqxmd.com/read/29653412/sensorimotor-gating-deficits-and-effects-of-antipsychotics-on-the-hyperactivity-in-vgf-overexpressing-mice
#1
Takahiro Mizoguchi, Hiroko Minakuchi, Miyu Tanaka, Kazuhiro Tsuruma, Masamitsu Shimazawa, Hideaki Hara
BACKGROUND: VGF nerve growth factor inducible (VGF) is a neuropeptide which is expressed in neuronal cells and endocrine cells. VGF is induced by several neurotrophic factors. The expression level of VGF in patients with schizophrenia is increased in cerebrospinal fluid (CSF) and prefrontal cortex. In our previous study, we generated mice in which the expression level of VGF in the brain was increased. VGF-overexpressing mice exhibited abnormal behaviors including hyperactivity. However, it remains unknown whether VGF-overexpressing mice exhibit the endophenotype of schizophrenia and whether abnormal behaviors in these mice can be improved by antipsychotics...
November 22, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/29626924/unsolvable-problems-of-biology-it-is-impossible-to-create-two-identical-organisms-to-defeat-cancer-or-to-map-organisms-onto-their-genomes
#2
REVIEW
E D Sverdlov
The review is devoted to unsolvable problems of biology. 1) Problems unsolvable due to stochastic mutations occurring during DNA replication that make it impossible to create two identical organisms or even two identical complex cells (Sverdlov, E. D. (2009) Biochemistry (Moscow), 74, 939-944) and to "defeat" cancer. 2) Problems unsolvable due to multiple interactions in complex systems leading to the appearance of unpredictable emergent properties that prevent establishment of unambiguous relationships between the genetic architecture and phenotypic manifestation of the genome and make impossible to predict with certainty responses of the organism, its parts, or pathological processes to external factors...
April 2018: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/29623444/polygenic-risk-score-use-in-migraine-research
#3
Mona Ameri Chalmer, Ann-Louise Esserlind, Jes Olesen, Thomas Folkmann Hansen
BACKGROUND: The latest Genome-Wide Association Study identified 38 genetic variants associated with migraine. In this type of studies the significance level is very difficult to achieve (5 × 10- 8 ) due to multiple testing. Thus, the identified variants only explain a small fraction of the genetic risk. It is expected that hundreds of thousands of variants also confer an increased risk but do not reach significance levels. One way to capture this information is by constructing a Polygenic Risk Score...
April 5, 2018: Journal of Headache and Pain
https://www.readbyqxmd.com/read/29609518/vascular-abnormalities-within-normal-appearing-tissue-in-chronic-traumatic-brain-injury
#4
Margalit Haber, Franck Amyot, Kimbra Kenney, Tawny Meredith-Duliba, Carol Moore, Erika Silverman, Jamie Podell, Yi-Yu Chou, Dzung L Pham, John Butman, Hanzang Lu, Ramon Diaz-Arrastia, Danielle Sandsmark
Magnetic resonance imaging (MRI) is a powerful tool for visualizing traumatic brain injury(TBI)-related lesions. Trauma-induced encephalomalacia is frequently identified by its hyperintense appearance on fluid-attenuated inversion recovery (FLAIR) sequences. In addition to parenchymal lesions, TBI commonly results in cerebral microvascular injury, but its anatomic relationship to parenchymal encephalomalacia is not well characterized. The current study utilized a multimodal MRI protocol to assess microstructural tissue integrity [via mean diffusivity (MD) and fractional aniosotropy (FA)], and altered vascular function [via cerebral blood flow (CBF) and cerebral vascular reactivity (CVR)], within regions of visible encephalomalacia and normal appearing tissue in 27 chronic TBI (minimum 6 months after injury) subjects...
April 2, 2018: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29602900/anxiety-and-mood-disorder-in-children-with-autism-spectrum-disorder-and-adhd
#5
Eliza Gordon-Lipkin, Alison R Marvin, J Kiely Law, Paul H Lipkin
OBJECTIVES: Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur. Understanding the endophenotype of children with both ASD and ADHD may impact clinical management. In this study, we compare the comorbidity of anxiety and mood disorders in children with ASD, with and without ADHD. METHODS: We performed a cross-sectional study of children with ASD who were enrolled in the Interactive Autism Network, an Internet-mediated, parent-report, autism research registry...
March 30, 2018: Pediatrics
https://www.readbyqxmd.com/read/29595559/mthfr-gene-methylation-is-associated-with-perceived-stress-in-healthy-young-adults
#6
Karen M Jiménez, Angela J Pereira-Morales, Diego A Forero
BACKGROUND: Epigenetic factors have been identified in the past years as interesting candidates for psychiatric disorders and related endophenotypes. It has been found that the methylenetetrahydrofolate reductase (MTHFR) gene is associated with major depressive disorder, and the aim of the current study was to examine the possible association between perceived stress and MTHFR methylation, taking into account depressive symptoms as a covariate. PARTICIPANTS AND METHODS: Seventy-eight healthy Colombian participants (mean age=20...
March 27, 2018: Psychiatric Genetics
https://www.readbyqxmd.com/read/29594136/crossing-the-worm-brain-barrier-by-using-caenorhabditis-elegans-to-explore-fundamentals-of-human-psychiatric-illness
#7
REVIEW
Donard S Dwyer
Endophenotypes and Research Domain Criteria (RDoC) represent recent efforts to deconvolute psychiatric illnesses into fundamental symptom clusters or biological markers more closely linked to genetic influences. By taking this one step farther, these biomarkers can be reduced to protophenotypes - endophenotypes conserved during evolution - with counterparts in lower organisms including Caenorhabditis elegans and Drosophila . Striking conservation in C. elegans of genes that increase the risk for mental illness bolsters the relevance of this model system for psychiatric research...
February 2018: Molecular Neuropsychiatry
https://www.readbyqxmd.com/read/29589797/adhd-endophenotypes-in-caribbean-families
#8
M L Cervantes-Henríquez, J E Acosta-López, M L Martínez-Banfi, J I Vélez, E Mejía-Segura, S G Lozano-Gutiérrez, M Sánchez-Rojas, M A Zurbarán, E E Zurek, M Arcos-Burgos, D A Pineda, P J Puentes-Rozo
OBJECTIVE: The aim of this study is to contrast the genetics of neuropsychological tasks in individuals from nuclear families clustering ADHD in a Caribbean community. METHOD: We recruited and clinically characterized 408 individuals using an extensive battery of neuropsychological tasks. The genetic variance underpinning these tasks was estimated by heritability. A predictive framework for ADHD diagnosis was derived using these tasks. RESULTS: We found that individuals with ADHD differed from controls in tasks of mental control, visuospatial ability, visuoverbal memory, phonological and verbal fluency, verbal and semantic fluency, cognitive flexibility, and cognitive ability...
March 1, 2018: Journal of Attention Disorders
https://www.readbyqxmd.com/read/29580570/increased-alcohol-seeking-in-mice-lacking-gpr88-involves-dysfunctional-mesocorticolimbic-networks
#9
Sami Ben Hamida, Sueli Mendonça-Netto, Tanzil Mahmud Arefin, Md Taufiq Nasseef, Laura-Joy Boulos, Michael McNicholas, Aliza Toby Ehrlich, Eleanor Clarke, Luc Moquin, Alain Gratton, Emmanuel Darcq, Laura Adela Harsan, Rafael Maldonado, Brigitte Lina Kieffer
BACKGOUND: Alcohol use disorder (AUD) is devastating and poorly treated, and innovative targets are actively sought for prevention and treatment. The orphan G protein-coupled receptor GPR88 is enriched in mesocorticolimbic pathways, and Gpr88 knockout mice show hyperactivity and risk-taking behavior, but a potential role for this receptor in drug abuse has not been examined. METHODS: We tested Gpr88 knockout mice for alcohol-drinking and -seeking behaviors. To gain system-level understanding of their alcohol endophenotype, we also analyzed whole-brain functional connectivity in naïve mice using resting-state functional magnetic resonance imaging...
February 9, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29562526/a-decade-of-blood-biomarkers-for-alzheimer-s-disease-research-an-evolving-field-improving-study-designs-and-the-challenge-of-replication
#10
Liu Shi, Alison L Baird, Sarah Westwood, Abdul Hye, Richard Dobson, Madhav Thambisetty, Simon Lovestone
Blood-based biomarkers represent a less invasive and potentially cheaper approach for aiding Alzheimer's disease (AD) detection compared with cerebrospinal fluid and some neuroimaging biomarkers. Acknowledging that many in the field have made great progress, here we review some of the work that our group has pursued to identify and validate blood-based proteomic biomarkers through both case control and AD pathology endophenotype-based approaches. Our focus is primarily to identify a minimally invasive and hopefully cost-effective blood-based biomarker to reduce screen failure in clinical trials where participants have prodromal or even pre-clinical disease...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29562524/revolution-of-alzheimer-precision-neurology-passageway-of-systems-biology-and-neurophysiology
#11
Harald Hampel, Nicola Toschi, Claudio Babiloni, Filippo Baldacci, Keith L Black, Arun L W Bokde, René S Bun, Francesco Cacciola, Enrica Cavedo, Patrizia A Chiesa, Olivier Colliot, Cristina-Maria Coman, Bruno Dubois, Andrea Duggento, Stanley Durrleman, Maria-Teresa Ferretti, Nathalie George, Remy Genthon, Marie-Odile Habert, Karl Herholz, Yosef Koronyo, Maya Koronyo-Hamaoui, Foudil Lamari, Todd Langevin, Stéphane Lehéricy, Jean Lorenceau, Christian Neri, Robert Nisticò, Francis Nyasse-Messene, Craig Ritchie, Simone Rossi, Emiliano Santarnecchi, Olaf Sporns, Steven R Verdooner, Andrea Vergallo, Nicolas Villain, Erfan Younesi, Francesco Garaci, Simone Lista
The Precision Neurology development process implements systems theory with system biology and neurophysiology in a parallel, bidirectional research path: a combined hypothesis-driven investigation of systems dysfunction within distinct molecular, cellular, and large-scale neural network systems in both animal models as well as through tests for the usefulness of these candidate dynamic systems biomarkers in different diseases and subgroups at different stages of pathophysiological progression. This translational research path is paralleled by an "omics"-based, hypothesis-free, exploratory research pathway, which will collect multimodal data from progressing asymptomatic, preclinical, and clinical neurodegenerative disease (ND) populations, within the wide continuous biological and clinical spectrum of ND, applying high-throughput and high-content technologies combined with powerful computational and statistical modeling tools, aimed at identifying novel dysfunctional systems and predictive marker signatures associated with ND...
March 16, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29560898/planning-ahead-the-future-of-searching-for-endophenotypes-of-obsessive-compulsive-disorder-in-the-era-of-research-domain-criteria
#12
Stefan Ursu
No abstract text is available yet for this article.
November 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/29559693/genome-wide-analyses-using-uk-biobank-data-provide-insights-into-the-genetic-architecture-of-osteoarthritis
#13
Eleni Zengini, Konstantinos Hatzikotoulas, Ioanna Tachmazidou, Julia Steinberg, Fernando P Hartwig, Lorraine Southam, Sophie Hackinger, Cindy G Boer, Unnur Styrkarsdottir, Arthur Gilly, Daniel Suveges, Britt Killian, Thorvaldur Ingvarsson, Helgi Jonsson, George C Babis, Andrew McCaskie, Andre G Uitterlinden, Joyce B J van Meurs, Unnur Thorsteinsdottir, Kari Stefansson, George Davey Smith, Jeremy M Wilkinson, Eleftheria Zeggini
Osteoarthritis is a common complex disease imposing a large public-health burden. Here, we performed a genome-wide association study for osteoarthritis, using data across 16.5 million variants from the UK Biobank resource. After performing replication and meta-analysis in up to 30,727 cases and 297,191 controls, we identified nine new osteoarthritis loci, in all of which the most likely causal variant was noncoding. For three loci, we detected association with biologically relevant radiographic endophenotypes, and in five signals we identified genes that were differentially expressed in degraded compared with intact articular cartilage from patients with osteoarthritis...
March 20, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29551395/unaffected-first-degree-relatives-of-essential-tremor-cases-have-more-imbalance-than-age-matched-control-subjects
#14
Elan D Louis, James H Meyers, Ashley D Cristal, Ruby Hickman, Pam Factor-Litvak
BACKGROUND: Endophenotypes are measurable clinical characteristics that may be present in individuals with increased risk for disease (e.g., unaffected family members). Endophenotypes are useful; they may clarify diagnosis in genetic studies and foster the development of animal models. In recent years, problems with balance and mild gait ataxia have been associated with essential tremor (ET). We compared gait and balance of first-degree relatives of ET cases (FD-ET) to that of age-matched controls (Co)...
March 13, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29537983/sleep-circadian-rhythms-and-schizophrenia-where-we-are-and-where-we-need-to-go
#15
Jan Cosgrave, Katharina Wulff, Philip Gehrman
PURPOSE OF REVIEW: The review is designed to give an overview of the latest developments in research exploring the relationship between sleep and psychosis, with particular attention paid to the evidence for a causal relationship between the two. RECENT FINDINGS: The most interesting avenues currently in pursuit are focused upon sleep spindle deficits which may hallmark an endophenotype; explorations of the continuum of psychotic experiences, and experimental manipulations to explore the evidence for bidirectional causality; inflammatory markers, psychosis and sleep disturbances and finally, treatment approaches for sleep in psychosis and the subsequent impact on positive experiences...
March 13, 2018: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/29537056/electrophysiological-correlates-of-reading-in-children-with-attention-deficit-hyperactivity-disorder
#16
P A Gonzalez-Perez, S Hernandez-Exposito, J Perez, G Ramirez, A Dominguez
AIMS: To investigate whether or not the deficits in executive functions in the attention deficit hyperactivity disorder (ADHD) affect reading comprehension and identify a potential biological marker of this neuropsychological endophenotype through event-related potentials (ERP). The phenotypic association between reading comprehension and the specific functions of inhibition and working memory is studied. SUBJECTS AND METHODS: The sample consisted of 52 children with ADHD (8-13 years) divided in two groups according to the presence (TDAH-; n = 27; percentile < 30) or the absence (TDAH+; n = 25; percentile > 50) of reading comprehension deficits and a control group (n = 27)...
March 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29535607/clinical-findings-documenting-cellular-and-molecular-abnormalities-of-glia-in-depressive-disorders
#17
REVIEW
Boldizsár Czéh, Szilvia A Nagy
Depressive disorders are complex, multifactorial mental disorders with unknown neurobiology. Numerous theories aim to explain the pathophysiology. According to the "gliocentric theory", glial abnormalities are responsible for the development of the disease. The aim of this review article is to summarize the rapidly growing number of cellular and molecular evidences indicating disturbed glial functioning in depressive disorders. We focus here exclusively on the clinical studies and present the in vivo neuroimaging findings together with the postmortem molecular and histopathological data...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29534239/multivariate-pattern-analysis-of-genotype-phenotype-relationships-in-schizophrenia
#18
Amanda B Zheutlin, Adam M Chekroud, Renato Polimanti, Joel Gelernter, Fred W Sabb, Robert M Bilder, Nelson Freimer, Edythe D London, Christina M Hultman, Tyrone D Cannon
Genetic risk variants for schizophrenia have been linked to many related clinical and biological phenotypes with the hopes of delineating how individual variation across thousands of variants corresponds to the clinical and etiologic heterogeneity within schizophrenia. This has primarily been done using risk score profiling, which aggregates effects across all variants into a single predictor. While effective, this method lacks flexibility in certain domains: risk scores cannot capture nonlinear effects and do not employ any variable selection...
March 9, 2018: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29531031/deletion-of-dopamine-d-2-receptors-from-parvalbumin-interneurons-in-mouse-causes-schizophrenia-like-phenotypes
#19
Eugenia Tomasella, Lucila Bechelli, Mora Belén Ogando, Camilo Mininni, Mariano N Di Guilmi, Fernanda De Fino, Silvano Zanutto, Ana Belén Elgoyhen, Antonia Marin-Burgin, Diego M Gelman
Excessive dopamine neurotransmission underlies psychotic episodes as observed in patients with some types of bipolar disorder and schizophrenia. The dopaminergic hypothesis was postulated after the finding that antipsychotics were effective to halt increased dopamine tone. However, there is little evidence for dysfunction within the dopaminergic system itself. Alternatively, it has been proposed that excessive afferent activity onto ventral tegmental area dopaminergic neurons, particularly from the ventral hippocampus, increase dopamine neurotransmission, leading to psychosis...
March 12, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29527481/behavioral-and-eeg-responses-to-social-evaluation-a-two-generation-family-study-on-social-anxiety
#20
Anita Harrewijn, Melle J W van der Molen, Irene M van Vliet, Renaud L M Tissier, P Michiel Westenberg
Social anxiety disorder is an invalidating psychiatric disorder characterized by extreme fear and avoidance of one or more social situations in which patients might experience scrutiny by others. The goal of this two-generation family study was to delineate behavioral and electrocortical endophenotypes of social anxiety disorder related to social evaluation. Nine families of patients with social anxiety disorder (their spouse and children, and siblings of these patients with spouse and children) performed a social judgment paradigm in which they believed to be evaluated by peers...
2018: NeuroImage: Clinical
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