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Neuropsychiatric genetics

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https://www.readbyqxmd.com/read/28230711/asperger-syndrome-and-early-onset-schizophrenia-associated-with-a-novel-mecp2-deleterious-missense-variant
#1
Aurore Curie, Gaëtan Lesca, Gérald Bussy, Sabine Manificat, Valérie Arnaud, Sibylle Gonzalez, Olivier Revol, Alain Calender, Daniel Gérard, Vincent des Portes
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out...
February 22, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28229108/how-age-sex-and-genotype-shape-the-stress-response
#2
REVIEW
Ashley Novais, Susana Monteiro, Susana Roque, Margarida Correia-Neves, Nuno Sousa
Exposure to chronic stress is a leading pre-disposing factor for several neuropsychiatric disorders as it often leads to maladaptive responses. The response to stressful events is heterogeneous, underpinning a wide spectrum of distinct changes amongst stress-exposed individuals'. Several factors can underlie a different perception to stressors and the setting of distinct coping strategies that will lead to individual differences on the susceptibility/resistance to stress. Beyond the factors related to the stressor itself, such as intensity, duration or predictability, there are factors intrinsic to the individuals that are relevant to shape the stress response, such as age, sex and genetics...
February 2017: Neurobiology of Stress
https://www.readbyqxmd.com/read/28221368/no-evidence-for-the-presence-of-genetic-variants-predisposing-to-psychotic-disorders-on-the-non-deleted-22q11-2-allele-of-vcfs-patients
#3
M Guipponi, F Santoni, M Schneider, C Gehrig, X B Bustillo, W R Kates, B Morrow, M Armando, S Vicari, F Sloan-Béna, M Gagnebin, V Shashi, S R Hooper, S Eliez, S E Antonarakis
The velo-cardio-facial syndrome (VCFS) is caused by hemizygous deletions on chromosome 22q11.2. The VCFS phenotype is complex and characterized by frequent occurrence of neuropsychiatric symptoms with up to 25-30% of cases suffering from psychotic disorders compared with only ~1% in the general population (odds ratio≈20-25). This makes the 22q11.2 deletion one of the most prominent risk factors for schizophrenia. However, its penetrance for neuropsychiatric phenotypes is incomplete suggesting that additional risk factors are required for disease development...
February 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28217866/zebrafish-models-in-neuropsychopharmacology-and-cns-drug-discovery
#4
REVIEW
Kanza M Khan, Adam D Collier, Darya A Meshalkina, Elana V Kysil, Sergey L Khatsko, Tatyana Kolesnikova, Yury Yu Morzherin, Jason E Warnick, Allan V Kalueff, David J Echevarria
Despite high prevalence of neuropsychiatric disorders, their etiology and molecular mechanisms remain poorly understood. The zebrafish (Danio rerio) is increasingly utilized as a powerful animal model in neuropharmacology research and in-vivo drug screening. Collectively, this makes zebrafish a useful tool for drug discovery and the identification of disordered molecular pathways. Here, we discuss zebrafish models of selected human neuropsychiatric disorders and drug-induced phenotypes. Covering a broad range of brain disorders (from anxiety and psychoses to neurodegeneration), we also summarize recent developments in zebrafish genetics and small molecule screening, which markedly enhance the disease modeling and the discovery of novel drug targets...
February 20, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28215820/the-use-of-fish-models-to-study-human-neurological-disorders
#5
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/28212945/sex-differences-in-interval-timing-and-attention-to-time-in-c57bl-6j-mice
#6
Mona Buhusi, Mitchell J Bartlett, Catalin V Buhusi
Interval timing is crucial for decision-making and motor control and is impaired in many neuropsychiatric disorders. Previous studies examined timing in various strains or genetically-altered mice, but not in parallel in male and female mice in the same experimental setting. We investigated timing and attention to time in male and female C57Bl/6J mice, when presented with gaps in the timed stimulus, novel auditory distracters presented during the un-interrupted timed stimulus, and gap+distracter combinations...
February 14, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28196412/mapk3-at-the-autism-linked-human-16p11-2-locus-influences-precise-synaptic-target-selection-at-drosophila-larval-neuromuscular-junctions
#7
Sang Mee Park, Hae Ryoun Park, Ji Hye Lee
Proper synaptic function in neural circuits requires precise pairings between correct pre- and post-synaptic partners. Errors in this process may underlie development of neuropsychiatric disorders, such as autism spectrum disorder (ASD). Development of ASD can be influenced by genetic factors, including copy number variations (CNVs). In this study, we focused on a CNV occurring at the 16p11.2 locus in the human genome and investigated potential defects in synaptic connectivity caused by reduced activities of genes located in this region at Drosophila larval neuromuscular junctions, a well-established model synapse with stereotypic synaptic structures...
February 15, 2017: Molecules and Cells
https://www.readbyqxmd.com/read/28195567/bdnf-val66met-association-with-serotonin-transporter-binding-in-healthy-humans
#8
P M Fisher, B Ozenne, C Svarer, D Adamsen, S Lehel, W F C Baaré, P S Jensen, G M Knudsen
The serotonin transporter (5-HTT) is a key feature of the serotonin system, which is involved in behavior, cognition and personality and implicated in neuropsychiatric illnesses including depression. The brain-derived neurotrophic factor (BDNF) val66met and 5-HTTLPR polymorphisms have predicted differences in 5-HTT levels in humans but with equivocal results, possibly due to limited sample sizes. Within the current study we evaluated these genetic predictors of 5-HTT binding with [(11)C]DASB positron emission tomography (PET) in a comparatively large cohort of 144 healthy individuals...
February 14, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28194001/enhancing-vta-cav1-3-l-type-ca-2-channel-activity-promotes-cocaine-and-mood-related-behaviors-via-overlapping-ampa-receptor-mechanisms-in-the-nucleus-accumbens
#9
A Martínez-Rivera, J Hao, T F Tropea, T P Giordano, M Kosovsky, R C Rice, A Lee, R L Huganir, J Striessnig, N A Addy, S Han, A M Rajadhyaksha
Genetic factors significantly influence susceptibility for substance abuse and mood disorders. Rodent studies have begun to elucidate a role of Cav1.3 L-type Ca(2+) channels in neuropsychiatric-related behaviors, such as addictive and depressive-like behaviors. Human studies have also linked the CACNA1D gene, which codes for the Cav1.3 protein, with bipolar disorder. However, the neurocircuitry and the molecular mechanisms underlying the role of Cav1.3 in neuropsychiatric phenotypes are not well established...
February 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28181877/an-in-silico-biomarker-based-method-for-the-evaluation-of-virtual-neuropsychiatric-drug-effects
#10
Peter J Siekmeier
The recent explosion in neuroscience research has markedly increased our understanding of the neurobiological correlates of many psychiatric illnesses, but this has unfortunately not translated into more effective pharmacologic treatments for these conditions. At the same time, researchers have increasingly sought out biological markers, or biomarkers, as a way to categorize psychiatric illness, as these are felt to be closer to underlying genetic and neurobiological vulnerabilities. While biomarker-based drug discovery approaches have tended to employ in vivo (e...
February 9, 2017: Neural Computation
https://www.readbyqxmd.com/read/28179810/sex-biased-cellular-signaling-molecular-basis-for-sex-differences-in-neuropsychiatric-diseases
#11
Rita J Valentino, Debra A Bangasser
The recognition that there are fundamental biological sex differences that extend beyond those that define sexual behavior and reproductive function has inspired the drive toward inclusion of both sexes in research design. This is supported by an underlying clinical rationale that studying both sexes is necessary to elucidate pathophysiology and develop treatments for the entire population. However, at a more basic level, sex differences, like genetic differences, can be exploited to better understand biology...
December 2016: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/28173649/-a-novel-mutation-in-kcnb1-gene-in-a-child-with-neuropsychiatric-comorbidities-with-both-intellectual-disability-and-epilepsy-and-review-of-literature
#12
P Miao, J Peng, C Chen, N Gai, F Yin
Objective: To explore the association between the phenotype and KCNB1 gene mutation. Method: Clinical information including physical features, laboratory and genetic data of one patient of mental retardation with refractory epilepsy from Department of Pediatrics, Xiangya Hospital in January 2016 was analyzed. This patient was discovered to have KCNB1 gene mutations through whole exome sequencing. Relevant information about KCNB1 gene mutation was searched and collected from Pubmed, CNKI, Human Gene Mutation Database(HGMD) and Online Mendelian Inheritance in Man(OMIM)...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28166306/identification-of-shared-risk-loci-and-pathways-for-bipolar-disorder-and-schizophrenia
#13
Andreas J Forstner, Julian Hecker, Andrea Hofmann, Anna Maaser, Céline S Reinbold, Thomas W Mühleisen, Markus Leber, Jana Strohmaier, Franziska Degenhardt, Jens Treutlein, Manuel Mattheisen, Johannes Schumacher, Fabian Streit, Sandra Meier, Stefan Herms, Per Hoffmann, André Lacour, Stephanie H Witt, Andreas Reif, Bertram Müller-Myhsok, Susanne Lucae, Wolfgang Maier, Markus Schwarz, Helmut Vedder, Jutta Kammerer-Ciernioch, Andrea Pfennig, Michael Bauer, Martin Hautzinger, Susanne Moebus, Lorena M Schenk, Sascha B Fischer, Sugirthan Sivalingam, Piotr M Czerski, Joanna Hauser, Jolanta Lissowska, Neonila Szeszenia-Dabrowska, Paul Brennan, James D McKay, Adam Wright, Philip B Mitchell, Janice M Fullerton, Peter R Schofield, Grant W Montgomery, Sarah E Medland, Scott D Gordon, Nicholas G Martin, Valery Krasnov, Alexander Chuchalin, Gulja Babadjanova, Galina Pantelejeva, Lilia I Abramova, Alexander S Tiganov, Alexey Polonikov, Elza Khusnutdinova, Martin Alda, Cristiana Cruceanu, Guy A Rouleau, Gustavo Turecki, Catherine Laprise, Fabio Rivas, Fermin Mayoral, Manolis Kogevinas, Maria Grigoroiu-Serbanescu, Tim Becker, Thomas G Schulze, Marcella Rietschel, Sven Cichon, Heide Fier, Markus M Nöthen
Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. BD shows substantial clinical and genetic overlap with other psychiatric disorders, in particular schizophrenia (SCZ). The genes underlying this etiological overlap remain largely unknown. A recent SCZ genome wide association study (GWAS) by the Psychiatric Genomics Consortium identified 128 independent genome-wide significant single nucleotide polymorphisms (SNPs). The present study investigated whether these SCZ-associated SNPs also contribute to BD development through the performance of association testing in a large BD GWAS dataset (9747 patients, 14278 controls)...
2017: PloS One
https://www.readbyqxmd.com/read/28161298/correlative-analysis-of-dopaminergic-and-serotonergic-metabolism-across-the-brain-to-study-monoaminergic-function-and-interaction
#14
Françoise Dellu-Hagedorn, Aurélie Fitoussi, Philippe De Deurwaerdère
BACKGROUND: The widespread innervation of dopamine (DA) and serotonin (5-HT) systems in cortical and subcortical regions suggests that their biochemical interactions can occur in multiple regions directly or indirectly via neurobiological networks. NEW METHOD: The present study was aimed at validating a neurochemical approach of monoaminergic function based on inter-individual variability of monoamine tissue contents in various cortical and subcortical areas. We focused on monoamines metabolism and examined correlations within and between these monoaminergic systems in selected regions for the metabolites 3,4-dihydroxyphenylacetic acid (DOPAC) and/or homovanillic acid (HVA) and 5-hydroxyindole acetic acid (5-HIAA) alone or with respect to the turnover indexes DOPAC/DA, DOPAC+HVA/DA and 5-HIAA/5-HT...
February 1, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28150698/gilles-de-la-tourette-syndrome
#15
REVIEW
Mary M Robertson, Valsamma Eapen, Harvey S Singer, Davide Martino, Jeremiah M Scharf, Peristera Paschou, Veit Roessner, Douglas W Woods, Marwan Hariz, Carol A Mathews, Rudi Črnčec, James F Leckman
Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental disorder that is characterized by several motor and phonic tics. Tics usually develop before 10 years of age, exhibit a waxing and waning course and typically improve with increasing age. A prevalence of approximately 1% is estimated in children and adolescents. The condition can result in considerable social stigma and poor quality of life, especially when tics are severe (for example, with coprolalia (swearing tics) and self-injurious behaviours) or when GTS is accompanied by attention-deficit/hyperactivity disorder, obsessive-compulsive disorder or another neuropsychiatric disorder...
February 2, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28137374/maternal-immune-activation-and-autism-spectrum-disorder-from-rodents-to-nonhuman-and-human-primates
#16
REVIEW
Milo Careaga, Takeshi Murai, Melissa D Bauman
A subset of women who are exposed to infection during pregnancy have an increased risk of giving birth to a child who will later be diagnosed with a neurodevelopmental or neuropsychiatric disorder. Although epidemiology studies have primarily focused on the association between maternal infection and an increased risk of offspring schizophrenia, mounting evidence indicates that maternal infection may also increase the risk of autism spectrum disorder. A number of factors, including genetic susceptibility, the intensity and timing of the infection, and exposure to additional aversive postnatal events, may influence the extent to which maternal infection alters fetal brain development and which disease phenotype (autism spectrum disorder, schizophrenia, other neurodevelopmental disorders) is expressed...
March 1, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28132681/human-mesenchymal-stem-cells-genetically-engineered-to-overexpress-brain-derived-neurotrophic-factor-improve-outcomes-in-huntington-s-disease-mouse-models
#17
Kari Pollock, Heather Dahlenburg, Haley Nelson, Kyle D Fink, Whitney Cary, Kyle Hendrix, Geralyn Annett, Audrey Torrest, Peter Deng, Joshua Gutierrez, Catherine Nacey, Karen Pepper, Stefanos Kalomoiris, Johnathon D Anderson, Jeannine McGee, William Gruenloh, Brian Fury, Gerhard Bauer, Alexandria Duffy, Theresa Tempkin, Vicki Wheelock, Jan A Nolta
Huntington's disease (HD) is a fatal degenerative autosomal dominant neuropsychiatric disease that causes neuronal death and is characterized by progressive striatal and then widespread brain atrophy. Brain-derived neurotrophic factor (BDNF) is a lead candidate for the treatment of HD, as it has been shown to prevent cell death and to stimulate the growth and migration of new neurons in the brain in transgenic mouse models. BDNF levels are reduced in HD postmortem human brain. Previous studies have shown efficacy of mesenchymal stem/stromal cells (MSC)/BDNF using murine MSCs, and the present study used human MSCs to advance the therapeutic potential of the MSC/BDNF platform for clinical application...
May 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28117842/histamine-h3r-receptor-activation-in-the-dorsal-striatum-triggers-stereotypies-in-a-mouse-model-of-tic-disorders
#18
M Rapanelli, L Frick, V Pogorelov, H Ohtsu, H Bito, C Pittenger
Tic disorders affect ~5% of the population and are frequently comorbid with obsessive-compulsive disorder, autism, and attention deficit disorder. Histamine dysregulation has been identified as a rare genetic cause of tic disorders; mice with a knockout of the histidine decarboxylase (Hdc) gene represent a promising pathophysiologically grounded model. How alterations in the histamine system lead to tics and other neuropsychiatric pathology, however, remains unclear. We found elevated expression of the histamine H3 receptor in the striatum of Hdc knockout mice...
January 24, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28116236/the-neural-correlates-and-clinical-characteristics-of-psychosis-in-the-frontotemporal-dementia-continuum-and-the-c9orf72-expansion
#19
Emma M Devenney, Ramon Landin-Romero, Muireann Irish, Michael Hornberger, Eneida Mioshi, Glenda M Halliday, Matthew C Kiernan, John R Hodges
OBJECTIVE: This present study aims to address the gap in the literature regarding the severity and underlying neural correlates of psychotic symptoms in frontotemporal dementia with and without the C9orf72 gene expansion. METHODS: Fifty-six patients with behavioural variant frontotemporal dementia (20 with concomitant amyotrophic lateral sclerosis) and 23 healthy controls underwent neuropsychological assessments, detailed clinical interview for assessment of psychosis symptoms, brain MRI and genetic testing...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28108491/transcriptome-analysis-identifies-multifaceted-regulatory-mechanisms-dictating-a-genetic-switch-from-neuronal-network-establishment-to-maintenance-during-postnatal-prefrontal-cortex-development
#20
Yvet Kroeze, Martin Oti, Ellen van Beusekom, Roel H M Cooijmans, Hans van Bokhoven, Sharon M Kolk, Judith R Homberg, Huiqing Zhou
The prefrontal cortex (PFC) is one of the latest brain regions to mature, which allows the acquisition of complex cognitive abilities through experience. To unravel the underlying gene expression changes during postnatal development, we performed RNA-sequencing (RNA-seq) in the rat medial PFC (mPFC) at five developmental time points from infancy to adulthood, and analyzed the differential expression of protein-coding genes, long intergenic noncoding RNAs (lincRNAs), and alternative exons. We showed that most expression changes occur in infancy, and that the number of differentially expressed genes reduces toward adulthood...
January 19, 2017: Cerebral Cortex
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