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Psychiatric Genetics

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https://www.readbyqxmd.com/read/28925523/bdnf-haplo-insufficiency-impairs-high-frequency-cortical-oscillations-in-mice
#1
Nigel C Jones, Matthew Hudson, Joshua Foreman, Gil Rind, Rachel Hill, Elizabeth E Manning, Maarten van den Buuse
Schizophrenia is a complex psychiatric disorder with a heterogeneous aetiology involving genetic and environmental factors. Deficiencies in both brain-derived neurotrophic factor (BDNF) and NMDA receptor function have been implicated in the disorder, and may play causal and synergistic roles. Perturbations in the regulation of electrophysiological signals, including high-frequency (gamma: 30-80 Hz and beta: 20-30 Hz) neuronal oscillations, are also associated with the disorder. This study investigated the influence of BDNF deficiency and NMDA receptor hypofunction on electrophysiological responses to brief acoustic stimuli...
September 19, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28924187/the-ipsych2012-case-cohort-sample-new-directions-for-unravelling-genetic-and-environmental-architectures-of-severe-mental-disorders
#2
C B Pedersen, J Bybjerg-Grauholm, M G Pedersen, J Grove, E Agerbo, M Bækvad-Hansen, J B Poulsen, C S Hansen, J J McGrath, T D Als, J I Goldstein, B M Neale, M J Daly, D M Hougaard, O Mors, M Nordentoft, A D Børglum, T Werge, P B Mortensen
The Integrative Psychiatric Research (iPSYCH) consortium has established a large Danish population-based Case-Cohort sample (iPSYCH2012) aimed at unravelling the genetic and environmental architecture of severe mental disorders. The iPSYCH2012 sample is nested within the entire Danish population born between 1981 and 2005, including 1 472 762 persons. This paper introduces the iPSYCH2012 sample and outlines key future research directions. Cases were identified as persons with schizophrenia (N=3540), autism (N=16 146), attention-deficit/hyperactivity disorder (N=18 726) and affective disorder (N=26 380), of which 1928 had bipolar affective disorder...
September 19, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28923721/evidence-of-sexual-dimorphism-of-htr1b-gene-on-major-adult-adhd-comorbidities
#3
Diana Müller, Eugenio H Grevet, Alana C Panzenhagen, Renata B Cupertino, Bruna S da Silva, Djenifer B Kappel, Nina R Mota, Paula Blaya-Rocha, Stefania P Teche, Eduardo S Vitola, Luis A Rohde, Verônica Contini, Diego L Rovaris, Jaqueline B Schuch, Claiton H D Bau
Attention-deficit/hyperactivity disorder (ADHD) is a very common psychiatric disorder across the life cycle and frequently presents comorbidities. Since ADHD is highly heritable, several studies have focused in the underlying genetic factors involved in its etiology. One of the major challenges in this search is the phenotypic heterogeneity, which could be partly attributable to the sexual dimorphism frequently seen in psychiatric disorders. Taking into account the well-known sexual dimorphic effect observed in serotonergic system characteristics, we differentially tested the influence of HTR1B SNPs (rs11568817, rs130058, rs6296 and rs13212041) on ADHD susceptibility and on its major comorbidities according to sex...
September 8, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28921525/comorbid-symptoms-of-inattention-autism-and-executive-cognition-in-youth-with-putative-genetic-risk
#4
Anne B Arnett, Brianna E Cairney, Arianne S Wallace, Jennifer Gerdts, Tychele N Turner, Evan E Eichler, Raphael A Bernier
BACKGROUND: Symptoms of autism spectrum disorder (ASD) and inattention (IA) are highly comorbid and associated with deficits in executive cognition. Cognitive deficits have been posited as candidate endophenotypes of psychiatric traits, but few studies have conceptualized cognitive deficits as psychiatric comorbidities. The latter model is consistent with a latent factor reflecting broader liability to neuropsychological dysfunction, and explains heterogeneity in the cognitive profile of individuals with ASD and IA...
September 18, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28920570/brain-relevant-antibodies-in-first-episode-psychosis-a-matched-case-control-study
#5
Fiona Gaughran, John Lally, Katherine Beck, Ruaidhri McCormack, Poonam Gardner-Sood, Ester Coutinho, Leslie Jacobson, Bethan Lang, Ricardo Sainz-Fuertes, Evangelos Papanastasiou, Marta Di Forti, Tim Nicholson, Angela Vincent, Robin M Murray
BACKGROUND: There has been much recent excitement about the possibility that some cases of psychosis may be wholly due to brain-reactive antibodies, with antibodies to N-methyl-D-aspartate receptor (NMDAR) and the voltage-gated potassium channel (VGKC)-complex reported in a few patients with first-episode psychosis (FEP). METHODS: Participants were recruited from psychiatric services in South London, UK, from 2009 to 2011 as part of the Genetics and Psychosis study...
September 18, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#6
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28910526/genetic-rodent-models-of-brain-disorders-perspectives-on-experimental-approaches-and-therapeutic-strategies
#7
Christopher M McGraw, Christopher S Ward, Rodney C Samaco
Neurobehavioral disorders comprised of neurodegenerative, neurodevelopmental, and psychiatric disorders together represent leading causes of morbidity and mortality. Despite significant academic research and industry efforts to elucidate the disease mechanisms operative in these disorders and to develop mechanism-based therapies, our understanding remains incomplete and our access to tractable therapeutic interventions severely limited. The magnitude of these short-comings can be measured by the growing list of disappointing clinical trials based on initially promising compounds identified in genetic animal models...
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28902457/the-role-of-clock-gene-in-psychiatric-disorders-evidence-from-human-and-animal-research
#8
REVIEW
Jaqueline B Schuch, Julia P Genro, Clarissa R Bastos, Gabriele Ghisleni, Luciana Tovo-Rodrigues
The circadian clock system drives daily rhythms in physiology, metabolism, and behavior in mammals. Molecular mechanisms of this system consist of multiple clock genes, with Circadian Locomotor Output Cycles Kaput (CLOCK) as a core member that plays an important role in a wide range of behaviors. Alterations in the CLOCK gene are associated with common psychiatric disorders as well as with circadian disturbances comorbidities. This review addresses animal, molecular, and genetic studies evaluating the role of the CLOCK gene on many psychiatric conditions, namely autism spectrum disorder, schizophrenia, attention-deficit/hyperactivity disorder, major depressive disorder, bipolar disorder, anxiety disorder, and substance use disorder...
September 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28900785/training-to-provide-psychiatric-genetic-counseling-how-does-it-impact-recent-graduates-and-current-students-readiness-to-provide-genetic-counseling-for-individuals-with-psychiatric-illness-and-attitudes-towards-this-population
#9
Ashley Low, Shannan Dixon, Amanda Higgs, Jessica Joines, Catriona Hippman
Mental illness is extremely common and genetic counselors frequently see patients with mental illness. Genetic counselors report discomfort in providing psychiatric genetic counseling (GC), suggesting the need to look critically at training for psychiatric GC. This study aimed to investigate psychiatric GC training and its impact on perceived preparedness to provide psychiatric GC (preparedness). Current students and recent graduates were invited to complete an anonymous survey evaluating psychiatric GC training and outcomes...
September 12, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28900388/disc1-regulates-the-proliferation-and-migration-of-mouse-neural-stem-progenitor-cells-through-pax5-sox2-dll1-and-neurog2
#10
Qian Wu, Weiting Tang, Zhaohui Luo, Yi Li, Yi Shu, Zongwei Yue, Bo Xiao, Li Feng
Background: Disrupted-in-schizophrenia 1 (DISC1) regulates neurogenesis and is a genetic risk factor for major psychiatric disorders. However, how DISC1 dysfunction affects neurogenesis and cell cycle progression at the molecular level is still unknown. Here, we investigated the role of DISC1 in regulating proliferation, migration, cell cycle progression and apoptosis in mouse neural stem/progenitor cells (MNSPCs) in vitro. Methods: MNSPCs were isolated and cultured from mouse fetal hippocampi. Retroviral vectors or siRNAs were used to manipulate DISC1 expression in MNSPCs...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28893219/a-case-of-a-four-year-old-child-adopted-at-eight-months-with-unusual-mood-patterns-and-significant-polypharmacy
#11
Magdalena Romanowicz, Alastair J McKean, Jennifer Vande Voort
BACKGROUND: Long-term effects of neglect in early life are still widely unknown. Diversity of outcomes can be explained by differences in genetic risk, epigenetics, prenatal factors, exposure to stress and/or substances, and parent-child interactions. Very common sub-threshold presentations of children with history of early trauma are challenging not only to diagnose but also in treatment. CASE PRESENTATION: A Caucasian 4-year-old, adopted at 8 months, male patient with early history of neglect presented to pediatrician with symptoms of behavioral dyscontrol, emotional dysregulation, anxiety, hyperactivity and inattention, obsessions with food, and attachment issues...
September 11, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28891303/redefining-the-endophenotype-concept-to-accommodate-transdiagnostic-vulnerabilities-and-etiological-complexity
#12
Theodore P Beauchaine, John N Constantino
In psychopathology research, endophenotypes are a subset of biomarkers that indicate genetic vulnerability independent of clinical state. To date, an explicit expectation is that endophenotypes be specific to single disorders. We evaluate this expectation considering recent advances in psychiatric genetics, recognition that transdiagnostic vulnerability traits are often more useful than clinical diagnoses in psychiatric genetics, and appreciation for etiological complexity across genetic, neural, hormonal and environmental levels of analysis...
September 11, 2017: Biomarkers in Medicine
https://www.readbyqxmd.com/read/28888533/an-overview-of-posttraumatic-stress-disorder-genetic-studies-by-analyzing-and-integrating-genetic-data-into-genetic-database-ptsdgene
#13
REVIEW
Kunlin Zhang, Susu Qu, Suhua Chang, Gen Li, Chengqi Cao, Kechi Fang, Miranda Olff, Li Wang, Jing Wang
Posttraumatic stress disorder (PTSD) is a debilitating psychiatric syndrome with complex etiology. Studies aiming to explore genetic susceptibility and environmental triggers of PTSD have been increasing. However, the results are limited and highly heterogeneous. To understand the genetic study status of PTSD and explore more reliable candidates, we obtained 105 PTSD related genetic studies by comprehensively literature searching and filtering 1762 studies. Detailed phenotype and sample information for each study and association results for each genetic marker were extracted...
September 6, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28887803/psychosis-in-spinocerebellar-ataxias-a-case-series-and-study-of-tyrosine-hydroxylase-in-substantia-nigra
#14
Katherine W Turk, Margaret E Flanagan, Samuel Josephson, C Dirk Keene, Suman Jayadev, Thomas D Bird
Spinocerebellar ataxias are a genetically heterogeneous group of degenerative diseases typically characterized by progressive ataxia and to various degrees, neuropathy, amyotrophy, and ocular abnormalities. There is increasing evidence for non-motor manifestations associated with cerebellar syndromes including cognitive and psychiatric features. We studied a retrospective clinical case series of eight subjects with spinocerebellar ataxias (SCAs) 2, 3, 7, and 17, all displaying features of psychosis, and also measured tyrosine hydroxylase (TH) staining of the substantia nigra (SN) at autopsy, among four of the subjects...
September 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28886358/open-sesame-open-chromatin-regions-shed-light-onto-non-coding-risk-variants
#15
Kun Yang, Akira Sawa
Human genetics and stem cell biology have advanced neurobiology for neurodevelopmental psychiatric disorders. In this issue of Cell Stem Cell, Forrest et al. (2017) demonstrate that studying the landscape of open chromatin regions in stem cell-derived neurons helps functional interpretation of non-coding genetic variants associated with these diseases.
September 7, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28883988/the-current-state-of-genetic-counseling-and-newborn-screening-an-interview-with-megan-tucker
#16
Megan Tucker
Megan Tucker talks to Francesca Lake, Managing Editor: A certified genetic counselor for over 10 years, Megan is currently the director of the Indiana State University Genetic Counseling Graduate Program and the Genetic Counseling Clinic at Union Hospital (Terre Haute, IN, USA). She began her career split between the Center for Prenatal Diagnosis and the Medical Genetics and Neurodevelopmental Center at St Vincent Hospital (Indianapolis, IN, USA). During this time she was instrumental in both the development of the statewide Perinatal Loss Evaluation Program and a hospital protocol to ensure collection of cord blood to allow time to effectively genetically evaluate babies...
August 2017: Future Science OA
https://www.readbyqxmd.com/read/28883878/the-report-of-three-rare-cases-of-the-niemann-pick-disease-in-birjand-south-khorasan-eastern-iran
#17
Samaneh Noroozi Asl, Rahim Vakili, Nosrat Ghaemi, Peyman Eshraghi
Niemann-Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of cholesterol in body tissues especially brain and progressive neurological symptoms. NP-C is characterized by nonspecific visceral, neurological and psychiatric manifestations in infants. The neurological involvement is typically proceeded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno-or hepatosplenomegaly in infancy or childhood)...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28883405/modeling-a-linkage-between-blood-transcriptional-expression-and-activity-in-brain-regions-to-infer-the-phenotype-of-schizophrenia-patients
#18
El Chérif Ibrahim, Vincent Guillemot, Magali Comte, Arthur Tenenhaus, Xavier Yves Zendjidjian, Aida Cancel, Raoul Belzeaux, Florence Sauvanaud, Olivier Blin, Vincent Frouin, Eric Fakra
Hundreds of genetic loci participate to schizophrenia liability. It is also known that impaired cerebral connectivity is directly related to the cognitive and affective disturbances in schizophrenia. How genetic susceptibility and brain neural networks interact to specify a pathological phenotype in schizophrenia remains elusive. Imaging genetics, highlighting brain variations, has proven effective to establish links between vulnerability loci and associated clinical traits. As previous imaging genetics works in schizophrenia have essentially focused on structural DNA variants, these findings could be blurred by epigenetic mechanisms taking place during gene expression...
September 7, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28881851/the-involvement-of-darpp-32-in-the-pathophysiology-of-schizophrenia
#19
REVIEW
Haitao Wang, Mohd Farhan, Jiangping Xu, Philip Lazarovici, Wenhua Zheng
Schizophrenia is one of the most devastating heterogeneous psychiatric disorders. The dopamine hypothesis is the longest standing pathoetiologic theory of schizophrenia based on neurochemical evidences of elevated brain striatal dopamine synthesis capacity and increased dopamine release in response to stress. Dopamine and cyclic AMP-regulated phosphoprotein of relative molecular mass 32,000 (DARPP-32) is a cytosolic protein highly enriched in the medium spiny neurons of the neostriatum, considered as the most important integrator between the cortical input and the basal ganglia, and associated with motor control...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28881385/expansion-and-further-delineation-of-the-setd5-phenotype-leading-to-global-developmental-delay-variable-dysmorphic-features-and-reduced-penetrance
#20
Z Powis, K D Farwell Hagman, C Mroske, K McWalter, J S Cohen, R Colombo, A Serretti, A Fatemi, K L David, J Reynolds, L D Immken, H Nagakura, C Cunniff, K Payne, T Barbaro-Dieber, K W Gripp, L Baker, T Stamper, K A Aleck, E S Jordan, J Hersh, J Burton, I M Wentzensen, M J Guillen Sacoto, R Willaert, M T Cho, I Petrik, R Huether, S Tang
Diagnostic exome sequencing (DES) has aided delineation of the phenotypic spectrum of rare genetic etiologies of intellectual disability (ID). A SETD5 phenotype of ID and dysmorphic features has been previously described in relation to patients with 3p25.3 deletions and in a few individuals with de novo sequence alterations. Herein, we present additional patients with pathogenic SETD5 sequence alterations. The majority of patients in this cohort and previously reported have developmental delay, behavioral/psychiatric issues, and variable hand and skeletal abnormalities...
September 7, 2017: Clinical Genetics
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