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Psychiatric Genetics

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https://www.readbyqxmd.com/read/28222122/poor-replication-validity-of-biomedical-association-studies-reported-by-newspapers
#1
Estelle Dumas-Mallet, Andy Smith, Thomas Boraud, François Gonon
OBJECTIVE: To investigate the replication validity of biomedical association studies covered by newspapers. METHODS: We used a database of 4723 primary studies included in 306 meta-analysis articles. These studies associated a risk factor with a disease in three biomedical domains, psychiatry, neurology and four somatic diseases. They were classified into a lifestyle category (e.g. smoking) and a non-lifestyle category (e.g. genetic risk). Using the database Dow Jones Factiva, we investigated the newspaper coverage of each study...
2017: PloS One
https://www.readbyqxmd.com/read/28218824/decreased-home-cage-movement-and-oromotor-impairments-in-adult-fmr1-ko-mice
#2
Stephen J Bonasera, Tammy R Chaudoin, Evan H Goulding, Mateusz Mittek, Anna Dunaevsky
Fragile X syndrome (FXS) is a common inherited disorder that significantly impacts family and patient day-to-day living across the entire lifespan. The childhood and adolescent behavioral consequences of FXS are well-appreciated. However, there are significantly fewer studies (except those examining psychiatric comorbidities) assessing behavioral phenotypes seen in adults with FXS. Mice engineered with a genetic lesion of Fmr1 recapitulate important molecular and neuroanatomical characteristics of FXS, and provide a means to evaluate adult behavioral phenotypes associated with FXS...
February 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28217273/mental-health-literacy-among-undergraduate-students-of-a-saudi-tertiary-institution-a-cross-sectional-study
#3
Mohamed S Mahfouz, Abdulwahab Aqeeli, Anwar M Makeen, Ramzi M Hakami, Hatim H Najmi, Abdullkarim T Mobarki, Mohammad H Haroobi, Saeed M Almalki, Mohammad A Mahnashi, Osayd A Ageel
The issue of mental health literacy has been widely studied in developed countries, with few studies conducted in Arab countries. In this study we aimed to investigate mental health literacy and attitudes towards psychiatric patients among students of Jazan University, Kingdom of Saudi Arabia. A crosssectional study was conducted among undergraduate students using a validated Arabicversion questionnaire. A total of 557 students were recruited from different Jazan university colleges. The majority of students (90...
November 23, 2016: Mental Illness
https://www.readbyqxmd.com/read/28215820/the-use-of-fish-models-to-study-human-neurological-disorders
#4
Hideaki Matsui
Small teleost fish including zebrafish and medaka have been used as animal models in basic science research due to the relative ease of handling and transparency during embryogenesis. Current advances in genetic engineering and progress in disease genetics allowed utilization of these fish to study neurological diseases and psychiatric disorders. This review summarizes the advantages and disadvantages of using fish for neuropsychiatric research using primarily our own studies as examples. We discuss how fish belong to a class of vertebrates, are feasible for imaging, and include diverse species with multiple research possibilities yet to be discovered...
February 16, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/28212663/isolation-of-primary-microglia-from-the-human-post-mortem-brain-effects-of-ante-and-post-mortem-variables
#5
Mark R Mizee, Suzanne S M Miedema, Marlijn van der Poel, Adelia, Karianne G Schuurman, Miriam E van Strien, Jeroen Melief, Joost Smolders, Debbie A Hendrickx, Kirstin M Heutinck, Jörg Hamann, Inge Huitinga
Microglia are key players in the central nervous system in health and disease. Much pioneering research on microglia function has been carried out in vivo with the use of genetic animal models. However, to fully understand the role of microglia in neurological and psychiatric disorders, it is crucial to study primary human microglia from brain donors. We have developed a rapid procedure for the isolation of pure human microglia from autopsy tissue using density gradient centrifugation followed by CD11b-specific cell selection...
February 17, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28212207/summaries-of-plenary-and-selected-symposia-sessions-at-the-xxiv-world-congress-of-psychiatric-genetics-jerusalem-israel-30-october-2016-3-november-2016
#6
Liliana G Ciobanu, Anil P S Ori, Luca Pagliaroli, Renato Polimanti, Leticia M Spindola, John B Vincent, Freida K Cormack
The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Jerusalem, Israel, from 30 October 2016 to 3 November 2016. A total of 372 participants gathered to discuss the latest findings in the field. The following report was written by early career investigator travel awardees, and student and postdoctoral attendees. Each was assigned one or more sessions as a rapporteur. This manuscript represents topics covered in most, but not all of the presentations during the conference, and contains some of the major notable new findings reported...
April 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28205498/cognitive-control-learning-and-clinical-motor-ratings-are-most-highly-associated-with-basal-ganglia-brain-volumes-in-the-premanifest-huntington-s-disease-phenotype
#7
Maria B Misiura, Spencer Lourens, Vince D Calhoun, Jeffrey Long, Jeremy Bockholt, Hans Johnson, Ying Zhang, Jane S Paulsen, Jessica A Turner, Jingyu Liu, Betul Kara, Elizabeth Fall
OBJECTIVES: Huntington's disease (HD) is a debilitating genetic disorder characterized by motor, cognitive and psychiatric abnormalities associated with neuropathological decline. HD pathology is the result of an extended chain of CAG (cytosine, adenine, guanine) trinucleotide repetitions in the HTT gene. Clinical diagnosis of HD requires the presence of an otherwise unexplained extrapyramidal movement disorder in a participant at risk for HD. Over the past 15 years, evidence has shown that cognitive, psychiatric, and subtle motor dysfunction is evident decades before traditional motor diagnosis...
February 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28202411/dopamine-and-dopamine-receptor-d1-associated-with-decreased-social-interaction
#8
Qiang Liu, Jieyun Shi, Rongfei Lin, Tieqiao Wen
Deficits in social interaction are hallmarks of neurological and psychiatric disorders. However, its underlying mechanism is still unclear. Here, we show that the loss of dendritic cell factor 1 (Dcf1) in the nervous system of mice induces social interaction deficiency, autism-like behaviour, and influences social interaction via the dopamine system. Dopamine receptor D1 agonist rescues this social cognition phenotype, and improves short-term plasticity. Together, this study presents a new genetic mechanism that affects social interaction and may provide a new way to improve positive social interaction and treat autism spectrum disorders...
February 13, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28199192/convergence-of-neurotransmissions-at-synapse-on-ieg-regulation-in-nucleus
#9
Mamoru Fukuchi, Masaaki Tsuda
There is no doubt that synaptic activity-regulated expression of immediate early genes (IEGs) contributes to long-lasting changes in neural functions, including learning and memory. Consequently, dysregulation of IEG expression has been involved in the conditions of neural and psychiatric disorders and cognitive dysfunction. This has mainly been demonstrated using genetically modified animal models and neuropharmacological analyses. The regulatory mechanisms of IEG expression have been investigated recently and have re-emphasized the role of IEG expression in plasticity-related processes as well as elucidating molecular mechanisms and drug targets for neurological and psychiatric disorders...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28199172/behavioral-phenotyping-assays-for-genetic-mouse-models-of-neurodevelopmental-neurodegenerative-and-psychiatric-disorders
#10
Stacey J Sukoff Rizzo, Jacqueline N Crawley
Animal models offer heuristic research tools to understand the causes of human diseases and to identify potential treatments. With rapidly evolving genetic engineering technologies, mutations identified in a human disorder can be generated in the mouse genome. Phenotypic outcomes of the mutation are then explicated to confirm hypotheses about causes and to discover effective therapeutics. Most neurodevelopmental, neurodegenerative, and psychiatric disorders are diagnosed primarily by their prominent behavioral symptoms...
February 8, 2017: Annual Review of Animal Biosciences
https://www.readbyqxmd.com/read/28198454/preliminary-evidence-for-a-role-of-the-adrenergic-nervous-system-in-generalized-anxiety-disorder
#11
Xiaobin Zhang, Joanna Norton, Isabelle Carrière, Karen Ritchie, Isabelle Chaudieu, Joanne Ryan, Marie-Laure Ancelin
Generalized anxiety disorder (GAD) is a common chronic condition that is understudied compared to other psychiatric disorders. An altered adrenergic function has been reported in GAD, however direct evidence for genetic susceptibility is missing. This study evaluated the associations of gene variants in adrenergic receptors (ADRs) with GAD, with the involvement of stressful events. Data were obtained from 844 French community-dwelling elderly aged 65 or over. Anxiety disorders were assessed using the Mini-International Neuropsychiatry Interview, according to DSM-IV criteria...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28194132/molecular-imaging-markers-to-track-huntington-s-disease-pathology
#12
REVIEW
Heather Wilson, Rosa De Micco, Flavia Niccolini, Marios Politis
Huntington's disease (HD) is a progressive, monogenic dominant neurodegenerative disorder caused by repeat expansion mutation in the huntingtin gene. The accumulation of mutant huntingtin protein, forming intranuclear inclusions, subsequently leads to degeneration of medium spiny neurons in the striatum and cortical areas. Genetic testing can identify HD gene carriers before individuals develop overt cognitive, psychiatric, and chorea symptoms. Thus, HD gene carriers can be studied in premanifest stages to understand and track the evolution of HD pathology...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28194008/genetic-otx2-mis-localization-delays-critical-period-plasticity-across-brain-regions
#13
H H C Lee, C Bernard, Z Ye, D Acampora, A Simeone, A Prochiantz, A A Di Nardo, T K Hensch
Accumulation of non-cell autonomous Otx2 homeoprotein in postnatal mouse visual cortex (V1) has been implicated in both the onset and closure of critical period (CP) plasticity. Here, we show that a genetic point mutation in the glycosaminoglycan recognition motif of Otx2 broadly delays the maturation of pivotal parvalbumin-positive (PV+) interneurons not only in V1 but also in the primary auditory (A1) and medial prefrontal cortex (mPFC). Consequently, not only visual, but also auditory plasticity is delayed, including the experience-dependent expansion of tonotopic maps in A1 and the acquisition of acoustic preferences in mPFC, which mitigates anxious behavior...
February 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28193370/-characterisation-of-three-polymorphisms-of-the-tryptophan-hydroxylase-2-gene-in-a-sample-of-colombian-population-with-major-depressive-disorder
#14
Adriana Martínez-Idárraga, Irene Riveros-Barrera, Ricardo Sánchez, Luis Eduardo Jaramillo, José Manuel Calvo-Gómez, Juan José Yunis-Londoño
OBJECTIVE: Identify whether rs11179000, rs136494 and rs4570625 polymorphisms of the tryptophan hydroxylase 2 gene, are associated with a major depressive disorder in a sample of the Colombian population. METHODS: Case-control study was conducted in which a comparison was made between subjects diagnosed with major depressive disorder at some point in adulthood or active symptoms at the time of evaluation, and subjects with no psychiatric disease. Subjects were studied in the Department of Psychiatry, Faculty of Medicine and the Institute of Genetics at the National University of Colombia...
January 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/28192369/synaptic-unc13a-protein-variant-causes-increased-neurotransmission-and-dyskinetic-movement-disorder
#15
Noa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, Nathaniel Calloway, Peter M van Hasselt, Katarzyna Pienkowska, Gijs van Haaften, Mieke M van Haelst, Ron van Empelen, Inge Cuppen, Heleen C van Teeseling, Annemieke M V Evelein, Jacob A Vorstman, Sven Thoms, Olaf Jahn, Karen J Duran, Glen R Monroe, Timothy A Ryan, Holger Taschenberger, Jeremy S Dittman, Jeong-Seop Rhee, Gepke Visser, Judith J Jans, Nils Brose
Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses. They mediate the priming step that renders synaptic vesicles fusion-competent, and their genetic elimination causes a complete block of synaptic transmission. Here we have described a patient displaying a disorder characterized by a dyskinetic movement disorder, developmental delay, and autism. Using whole-exome sequencing, we have shown that this condition is associated with a rare, de novo Pro814Leu variant in the major human Munc13 paralog UNC13A (also known as Munc13-1)...
February 13, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28191386/using-induced-pluripotent-stem-cells-to-investigate-complex-genetic-psychiatric-disorders
#16
Stephanie J Temme, Brady J Maher, Kimberly M Christian
PURPOSE OF REVIEW: Induced pluripotent stem cells (iPSCs) can be generated from human patient tissue samples, differentiated into any somatic cell type, and studied under controlled culture conditions. We review how iPSCs are used to investigate genetic factors and biological mechanisms underlying psychiatric disorders, and considerations for synthesizing data across studies. RECENT FINDINGS: Results from patient specific-iPSC studies often reveal cellular phenotypes consistent with postmortem and brain imaging studies...
December 2016: Current Behavioral Neuroscience Reports
https://www.readbyqxmd.com/read/28187187/widespread-signatures-of-positive-selection-in-common-risk-alleles-associated-to-autism-spectrum-disorder
#17
Renato Polimanti, Joel Gelernter
The human brain is the outcome of innumerable evolutionary processes; the systems genetics of psychiatric disorders could bear their signatures. On this basis, we analyzed five psychiatric disorders, attention deficit hyperactivity disorder, autism spectrum disorder (ASD), bipolar disorder, major depressive disorder, and schizophrenia (SCZ), using GWAS summary statistics from the Psychiatric Genomics Consortium. Machine learning-derived scores were used to investigate two natural-selection scenarios: complete selection (loci where a selected allele reached fixation) and incomplete selection (loci where a selected allele has not yet reached fixation)...
February 10, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28186671/modeling-neurodevelopmental-and-psychiatric-diseases-with-human-ipscs
#18
REVIEW
Zhexing Wen
Neurodevelopmental and psychiatric disorders, including autism spectrum disorder and schizophrenia, are complex and heterogeneous disorders that affect a large portion of the world's population. While the causes are still poorly understood, currently available treatments are limited; the development of rational therapeutics based on an understanding of the etiology and pathogenesis of the disease is imperative. The breakthrough technology of deriving induced pluripotent stem cells (iPSCs), reprogrammed from somatic cells of healthy subjects or patients, offers an unprecedented opportunity to recapitulate both normal and pathological development of human tissue, thereby opening up a new avenue for disease modeling and drug development in a more genetically tractable and disease-relevant system...
February 10, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28186381/psychiatric-and-psychological-aspects-in-the-ehlers-danlos-syndromes
#19
Antonio Bulbena, Carolina Baeza-Velasco, Andrea Bulbena-Cabré, Guillem Pailhez, Hugo Critchley, Pradeep Chopra, Nuria Mallorquí-Bagué, Charissa Frank, Stephen Porges
There is increasing amount of evidence pointing toward a high prevalence of psychiatric conditions among individuals with hypermobile type of Ehlers-Danlos syndrome (JHS/hEDS). A literature review confirms a strong association between anxiety disorders and JHSh/hEDS, and there is also limited but growing evidence that JHSh/hEDS is also associated with depression, eating, and neuro-developmental disorders as well as alcohol and tobacco misuse. The underlying mechanisms behind this association include genetic risks, autonomic nervous system dysfunction, increased exteroceptive and interoceptive mechanisms and decreased proprioception...
February 10, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28186152/association-of-polygenic-risk-for-major-psychiatric-illness-with-subcortical-volumes-and-white-matter-integrity-in-uk-biobank
#20
L M Reus, X Shen, J Gibson, E Wigmore, L Ligthart, M J Adams, G Davies, S R Cox, S P Hagenaars, M E Bastin, I J Deary, H C Whalley, A M McIntosh
Major depressive disorder (MDD), schizophrenia (SCZ) and bipolar disorder (BP) are common, disabling and heritable psychiatric diseases with a complex overlapping polygenic architecture. Individuals with these disorders, as well as their unaffected relatives, show widespread structural differences in corticostriatal and limbic networks. Structural variation in many of these brain regions is also heritable and polygenic but whether their genetic architecture overlaps with that of major psychiatric disorders is unknown...
February 10, 2017: Scientific Reports
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