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Neuropsychiatric genetics

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https://www.readbyqxmd.com/read/28335009/open-chromatin-profiling-of-human-postmortem-brain-infers-functional-roles-for-non-coding-schizophrenia-loci
#1
John F Fullard, Claudia Giambartolomei, Mads E Hauberg, Ke Xu, Georgios Voloudakis, Zhiping Shao, Christopher Bare, Joel T Dudley, Manuel Mattheisen, Nikolaos K Robakis, Vahram Haroutunian, Panos Roussos
Open chromatin provides access to DNA binding proteins for the correct spatiotemporal regulation of gene expression. Mapping chromatin accessibility has been widely used to identify the location of cis regulatory elements (CREs) including promoters and enhancers. CREs show tissue- and cell-type specificity and disease-associated variants are often enriched for CREs in the tissues and cells that pertain to a given disease. To better understand the role of CREs in neuropsychiatric disorders we applied the Assay for Transposase Accessible Chromatin followed by sequencing (ATAC-seq) to neuronal and non-neuronal nuclei isolated from frozen postmortem human brain by fluorescence-activated nuclear sorting (FANS)...
March 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333692/application-of-olfactory-tissue-and-its-neural-progenitors-to-schizophrenia-and-psychiatric-research
#2
Joëlle Lavoie, Akira Sawa, Koko Ishizuka
PURPOSE OF REVIEW: The goal of this review article is to introduce olfactory epithelium-derived cell/tissue models as a promising surrogate system to study the molecular mechanisms implicated in schizophrenia and other neuropsychiatric disorders. Here, we particularly focus on the utility of their neural progenitors. RECENT FINDINGS: Recent investigations of the pathophysiology of schizophrenia using olfactory epithelium-derived tissue/cell models have provided insights about schizophrenia-associated alterations in neurodevelopment, stress response, and gene/protein expression regulatory pathways...
March 22, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#3
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28322284/genomic-resources-for-the-study-of-neuropsychiatric-disorders
#4
G Senthil, T Dutka, L Bingaman, T Lehner
The National Institute of Mental Health (NIMH) has made sustained investments in the development of genomic resources over the last two decades. These investments have led to the development of the largest biorepository for psychiatric genetics as a centralized national resource. In the realm of genomic resources, NIMH has been supporting large team science (TS) consortia focused on gene discovery, fine mapping of loci, and functional genomics using state-of-the-art technologies. The scientific output from these efforts has not only begun to transform our understanding of the genetic architecture of neuropsychiatric disorders, but it has also led to a broader cultural change among the investigator community towards deeper collaborations and broad pre-publication sharing of data and resources...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28322279/pluripotent-stem-cells-in-neuropsychiatric-disorders
#5
REVIEW
M A Soliman, F Aboharb, N Zeltner, L Studer
Neuropsychiatric disorders place an enormous medical burden on patients across all social and economic ranks. The current understanding of the molecular and cellular causes of neuropsychiatric disease remains limited, which leads to a lack of targeted therapies. Human-induced pluripotent stem cell (iPSC) technology offers a novel platform for modeling the genetic contribution to mental disorders and yields access to patient-specific cells for drug discovery and personalized medicine. Here, we review recent progress in using iPSC technology to model and potentially treat neuropsychiatric disorders by focusing on the most prevalent conditions in psychiatry, including depression, anxiety disorders, bipolar disorder and schizophrenia...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28320191/c9orf72-hexanucleotide-repeat-expansions-are-not-a-common-cause-of-obsessive-compulsive-disorder
#6
Karissa C Arthur, Alberto M Rivera, Jack Samuels, Ying Wang, Marco Grados, Fernando S Goes, Brion Maher, Gerald Nestadt, Bryan J Traynor
Obsessive-compulsive disorder (OCD) is a polygenic neuropsychiatric disorder characterized by repetitive thoughts and behaviors that cause distress. The pathogenic repeat expansion [GGGGCC]n found at the C9orf72 locus is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and has also been documented in patients with psychosis and schizophrenia. Furthermore, obsessions and compulsions have been identified in patients diagnosed with ALS and/or FTD and carrying the pathogenic repeat expansion...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28314127/suicide-attempt-in-mental-disorders-medi-association-with-5-htt-il-10-and-tnf-alpha-polymorphisms
#7
Verônica de Medeiros Alves, Aline Cristine Pereira E Silva, Elaine Virgínia Martins de Souza, Leilane Camila Ferreira de Lima Francisco, Edilson Leite de Moura, Valfrido Leão de-Melo-Neto, Antonio E Nardi
BACKGROUND: Mental disorders (MeDi) and suicide attempts (SA) are influenced by environmental and genetic factors. Genetic polymorphism studies have identified some candidate genes for suicidal behaviour in people with MeDi. OBJECTIVE: To evaluate MeDi and SA in relation to the presence of rs2020933 (5-HTT), rs1800871 (IL-10) and rs1800629 (TNF-α) polymorphisms. METHODS: A questionnaire for identification and general data, a brief quality of life assessment (WHOQOL-brief), the scale of suicide ideation by Beck and the MINI International Neuropsychiatric Interview were used in this study...
February 27, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28301848/predictors-of-reversion-from-mild-cognitive-impairment-to-normal-cognition
#8
Seema Y Pandya, Laura H Lacritz, Myron F Weiner, Martin Deschner, Fu L Woon
BACKGROUND/AIMS: Few studies have examined predictors of reversion from mild cognitive impairment (MCI) to normal cognition. We sought to identify baseline predictors of reversion, using the National Alzheimer's Coordinating Center Uniform Data Set, by comparing MCI individuals who reverted to normal cognition to those who progressed to dementia. METHODS: Participants (n = 1,208) meeting MCI criteria were evaluated at the baseline visit and 3 subsequent annual visits...
March 17, 2017: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/28300615/heritability-of-brain-activity-related-to-response-inhibition-a-longitudinal-genetic-study-in-adolescent-twins
#9
Andrey P Anokhin, Simon Golosheykin, Julia D Grant, Andrew C Heath
The ability to inhibit prepotent but context- or goal-inappropriate responses is essential for adaptive self-regulation of behavior. Deficits in response inhibition, a key component of impulsivity, have been implicated as a core dysfunction in a range of neuropsychiatric disorders such as ADHD and addictions. Identification of genetically transmitted variation in the neural underpinnings of response inhibition can help to elucidate etiological pathways to these disorders and establish the links between genes, brain, and behavior...
March 11, 2017: International Journal of Psychophysiology
https://www.readbyqxmd.com/read/28298568/comparison-of-disease-characteristics-organ-damage-and-survival-in-patients-with-juvenile-onset-and-adult-onset-systemic-lupus-erythematosus-in-a-combined-cohort-from-2-tertiary-centers-in-turkey
#10
Bahar Artim-Esen, Sezgin Şahin, Erhan Çene, Yasemin Şahinkaya, Kenan Barut, Amra Adrovic, Yasemin Özlük, Işın Kılıçaslan, Ahmet Omma, Ahmet Gül, Lale Öcal, Özgür Kasapçopur, Murat İnanç
OBJECTIVE: Age at onset has been shown to affect the clinical course and outcome of systemic lupus erythematosus (SLE). Herein, we aimed to define the differences in clinical characteristics, organ damage, and survival between patients with juvenile-onset (jSLE) and adult-onset SLE (aSLE). METHODS: For the study, 719 patients (76.9%) with aSLE and 216 (23.1%) with jSLE were examined. Comparisons between the groups were made for demographic characteristics, clinical features, autoantibody profiles, damage, and survival rates...
March 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28289693/cav1-2-channels-mediate-persistent-chronic-stress-induced-behavioral-deficits-that-are-associated-with-prefrontal-cortex-activation-of-the-p25-cdk5-glucocorticoid-receptor-pathway
#11
Charlotte C Bavley, Delaney K Fischer, Bryant K Rizzo, Anjali M Rajadhyaksha
Chronic stress is known to precipitate and exacerbate neuropsychiatric symptoms, and exposure to stress is particularly pathological in individuals with certain genetic predispositions. Recent genome wide association studies have identified single nucleotide polymorphisms (SNPs) in the gene CACNA1C, which codes for the Cav1.2 subunit of the L-type calcium channel (LTCC), as a common risk variant for multiple neuropsychiatric conditions. Cav1.2 channels mediate experience-dependent changes in gene expression and long-term synaptic plasticity through activation of downstream calcium signaling pathways...
December 2017: Neurobiology of Stress
https://www.readbyqxmd.com/read/28289279/next-gen-sequencing-identifies-non-coding-variation-disrupting-mirna-binding-sites-in-neurological-disorders
#12
P Devanna, X S Chen, J Ho, D Gajewski, S D Smith, A Gialluisi, C Francks, S E Fisher, D F Newbury, S C Vernes
Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes...
March 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28287253/the-rodent-forced-swim-test-measures-stress-coping-strategy-not-depression-like-behavior
#13
Kathryn G Commons, Aram B Cholanians, Jessica A Babb, Daniel G Ehlinger
The Forced Swim Test (FST) measures coping strategy to an acute inescapable stress and thus provides unique insight into the neural limb of the stress response. Stress, particularly chronic stress, is a contributing factor to depression in humans and depression is associated with altered response to stress. In addition, drugs that are effective antidepressants in humans typically promote active coping strategy in the FST. As a consequence passive coping in the FST has become loosely equated with depression and is often referred to as 'depression-like' behavior...
March 13, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28268034/epistasis-in-neuropsychiatric-disorders
#14
REVIEW
Caleb Webber
The contribution of epistasis to human disease remains unclear. However, several studies have now identified epistatic interactions between common variants that increase the risk of a neuropsychiatric disorder, while there is growing evidence that genetic interactions contribute to the pathogenicity of rare, multigenic copy-number variants (CNVs) that have been observed in patients. This review discusses the current evidence for epistatic events and genetic interactions in neuropsychiatric disorders, how paradigm shifts in the phenotypic classification of patients would empower the search for epistatic effects, and how network and cellular models might be employed to further elucidate relevant epistatic interactions...
March 3, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28267988/left-right-asymmetry-of-maturation-rates-in-human-embryonic-neural-development
#15
Carolien G F de Kovel, Steven Lisgo, Guy Karlebach, Jia Ju, Gang Cheng, Simon E Fisher, Clyde Francks
BACKGROUND: Left-right asymmetry is a fundamental organizing feature of the human brain, and neuropsychiatric disorders such as schizophrenia sometimes involve alterations of brain asymmetry. As early as 8 weeks postconception, the majority of human fetuses move their right arms more than their left arms, but because nerve fiber tracts are still descending from the forebrain at this stage, spinal-muscular asymmetries are likely to play an important developmental role. METHODS: We used RNA sequencing to measure gene expression levels in the left and right spinal cords, and the left and right hindbrains, of 18 postmortem human embryos aged 4 to 8 weeks postconception...
February 1, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28264500/geneanalytics-pathway-analysis-and-genetic-overlap-among-autism-spectrum-disorder-bipolar-disorder-and-schizophrenia
#16
Naveen S Khanzada, Merlin G Butler, Ann M Manzardo
Bipolar disorder (BPD) and schizophrenia (SCH) show similar neuropsychiatric behavioral disturbances, including impaired social interaction and communication, seen in autism spectrum disorder (ASD) with multiple overlapping genetic and environmental influences implicated in risk and course of illness. GeneAnalytics software was used for pathway analysis and genetic profiling to characterize common susceptibility genes obtained from published lists for ASD (792 genes), BPD (290 genes) and SCH (560 genes). Rank scores were derived from the number and nature of overlapping genes, gene-disease association, tissue specificity and gene functions subdivided into categories (e...
February 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28260504/the-crf-family-of-neuropeptides-and-their-receptors-mediators-of-the-central-stress-response
#17
Nina Dedic, Alon Chen, Jan M Deussing
Dysregulated stress neurocircuits, caused by genetic and/or environmental changes, underlie the development of many neuropsychiatric disorders. Corticotropin-releasing factor (CRF) is the major physiological activator of the hypothalamic-pituitary-adrenal (HPA) axis and consequently a primary regulator of the mammalian stress response. Together with its three family members, urocortins (UCNs) 1, 2, and 3, CRF integrates the neuroendocrine, autonomic, metabolic and behavioral responses to stress by activating its cognate receptors CRFR1 and CRFR2...
March 1, 2017: Current Molecular Pharmacology
https://www.readbyqxmd.com/read/28259864/-an-attempt-to-identify-22q11-2-microdeletions-in-samples-of-the-hungarian-schizophrenia-dna-bank-by-multiplex-ligation-based-probe-amplification-mlpa-literature-review-methodology-and-results
#18
Izabella Klein, Katalin Szocs, Katalin Vincze, Judit Benkovits, Szilvia Somogyi, Levente Herman, Janos M Rethelyi
Schizophrenia is a severe debilitating psychiatric disorder, with a typical onset in adolescence or early adulthood. This condition is characterized by heterogeneous symptoms (hallucinations, delusions, disorganized behaviour, affective flattening, and social isolation) and a life-time prevalence of 0.5-1.2%. In spite of the efforts to uncover the etiology of the disorder, its pathogenesis and neurobiological background are poorly understood. Given the high heritability in schizophrenia, genetic research remains an important area of focus...
December 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28259862/-modeling-neurological-and-psychiatric-disorders-in-vitro-using-induced-pluripotent-stem-cells-highlighting-findings-in-alzheimer-s-disease-and-schizophrenia
#19
Edit Hathy, Sara Kalman, Agota Apati, Zsofia Nemoda, Janos M Rethelyi
Over the past decade we witnessed the birth of a new scientific area that lies at the borders of developmental biology, stem cell biology, basic and clinical neuroscience. In vitro disease modeling refers to the approach that exploits the capacity of stem cells for self-renewal and pluripotency by generating specific cell types that are relevant for a given disorder. Based on this method, neurological and psychiatric disorders can be investigated by differentiating stem cells into neurons in a dish, and studying the relevant neuronal populations affected in the pathophysiology of the disorder in terms of specific cellular phenotypes...
December 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28252249/the-isoxazole-ring-and-its-n-oxide-a-privileged-core-structure-in-neuropsychiatric-therapeutics
#20
REVIEW
George N Pairas, Fereniki Perperopoulou, Petros G Tsoungas, George Varvounis
Mental disorders are neuropsychiatric conditions that are marked by unusual or irregular thinking, feelings, or behavior, and lead to distress and/or impaired functions. Major psychiatric conditions are depression, anxiety, and psychoses of various types. Their etiopathogeneses, of a primary or secondary origin, are associated with genetic and environmental factors. They are commonly treated with psychoactive drugs (also known as psychotropics), which target serotonin, dopamine, norepinephrine, glutamate, and nuclear receptors (NRs), including retinoic acid receptor-related orphan receptors (RORs) and other receptors in the central nervous system (CNS)...
March 2, 2017: ChemMedChem
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