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https://www.readbyqxmd.com/read/27457812/exome-sequencing-of-pakistani-consanguineous-families-identifies-30-novel-candidate-genes-for-recessive-intellectual-disability
#1
S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, D L Polla, Y Song, E van Beusekom, A A Khan, L Tomas-Roca, M Rashid, M Y Zahoor, W M Wissink-Lindhout, M A R Basra, M Ansar, Z Agha, K van Heeswijk, F Rasheed, M Van de Vorst, J A Veltman, C Gilissen, J Akram, T Kleefstra, M Z Assir, D Grozeva, K Carss, F L Raymond, T D O'Connor, S A Riazuddin, S N Khan, Z M Ahmed, A P M de Brouwer, H van Bokhoven, S Riazuddin
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1-3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predominantly due to non-availability of sizeable families. Here we present the results of exome sequencing in 121 large consanguineous Pakistani ID families. In 60 families, we identified homozygous or compound heterozygous DNA variants in a single gene, 30 affecting reported ID genes and 30 affecting novel candidate ID genes...
July 26, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27217151/mood-stress-and-longevity-convergence-on-ank3
#2
S Rangaraju, D F Levey, K Nho, N Jain, K D Andrews, H Le-Niculescu, D R Salomon, A J Saykin, M Petrascheck, A B Niculescu
Antidepressants have been shown to improve longevity in C. elegans. It is plausible that orthologs of genes involved in mood regulation and stress response are involved in such an effect. We sought to understand the underlying biology. First, we analyzed the transcriptome from worms treated with the antidepressant mianserin, previously identified in a large-scale unbiased drug screen as promoting increased lifespan in worms. We identified the most robust treatment-related changes in gene expression, and identified the corresponding human orthologs...
August 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27113999/separating-the-wheat-from-the-chaff-systematic-identification-of-functionally-relevant-noncoding-variants-in-adhd
#3
J H S Tong, Z Hawi, C Dark, T D R Cummins, B P Johnson, D P Newman, R Lau, A Vance, H S Heussler, N Matthews, M A Bellgrove, K C Pang
Attention deficit hyperactivity disorder (ADHD) is a highly heritable psychiatric condition with negative lifetime outcomes. Uncovering its genetic architecture should yield important insights into the neurobiology of ADHD and assist development of novel treatment strategies. Twenty years of candidate gene investigations and more recently genome-wide association studies have identified an array of potential association signals. In this context, separating the likely true from false associations ('the wheat' from 'the chaff') will be crucial for uncovering the functional biology of ADHD...
November 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27046647/a-polymorphism-in-the-norepinephrine-transporter-gene-is-associated-with-affective-and-cardiovascular-disease-through-a-microrna-mechanism
#4
F Z Marques, N Eikelis, R G Bayles, E A Lambert, N E Straznicky, D Hering, M D Esler, G A Head, D A Barton, M P Schlaich, G W Lambert
Norepinephrine released from sympathetic nerves is removed from the neuroeffector junction via the action of the norepinephrine transporter (NET). NET impairment is evident in several clinically important conditions including major depressive disorder (MDD), panic disorder (PD), essential hypertension and the postural orthostatic tachycardia syndrome (POTS). We aimed to determine whether a single nucleotide polymorphism (SNP) in the 3' untranslated region (UTR) of the NET gene is associated with NET impairment and to elucidate the mechanisms involved...
April 5, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27010919/iqsec2-and-x-linked-syndromal-intellectual-disability
#5
Aaron F Alexander-Bloch, Christopher J McDougle, Zhanna Ullman, David A Sweetser
Despite the recent acceleration in the discovery of genetic risk factors for intellectual disability (ID), the genetic etiology of ID is unknown in approximately half of cases and remains a major frontier of genetics in medicine and psychiatry. The distinction between syndromal and nonsyndromal forms of ID is of great clinical importance, but the boundary between these clinical entities is difficult to ascertain for many genes of interest. ID is more common in men than in women, but the genetic explanation of this sex asymmetry is incompletely understood...
June 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/25431328/mgas-a-powerful-tool-for-multivariate-gene-based-genome-wide-association-analysis
#6
Sophie Van der Sluis, Conor V Dolan, Jiang Li, Youqiang Song, Pak Sham, Danielle Posthuma, Miao-Xin Li
MOTIVATION: Standard genome-wide association studies, testing the association between one phenotype and a large number of single nucleotide polymorphisms (SNPs), are limited in two ways: (i) traits are often multivariate, and analysis of composite scores entails loss in statistical power and (ii) gene-based analyses may be preferred, e.g. to decrease the multiple testing problem. RESULTS: Here we present a new method, multivariate gene-based association test by extended Simes procedure (MGAS), that allows gene-based testing of multivariate phenotypes in unrelated individuals...
April 1, 2015: Bioinformatics
https://www.readbyqxmd.com/read/24870135/bioinformatics-approach-to-understanding-interacting-pathways-in-neuropsychiatric-disorders
#7
REVIEW
Ali Alawieh, Zahraa Sabra, Amaly Nokkari, Atlal El-Assaad, Stefania Mondello, Fadi Zaraket, Bilal Fadlallah, Firas H Kobeissy
Bioinformatics-based applications have been incorporated into several medical disciplines, including cancer, neuroscience, and recently psychiatry. Both the increasing interest in the molecular aspect of neuropsychiatry and the availability of high-throughput discovery and analysis tools have encouraged the incorporation of bioinformatics and neurosystems biology techniques into psychiatry and neuroscience research. As applied to neuropsychiatry, systems biology involves the acquisition and processing of high-throughput datasets to infer new information...
2014: Methods in Molecular Biology
https://www.readbyqxmd.com/read/23842599/mass-spectrometry-strategies-for-clinical-metabolomics-and-lipidomics-in-psychiatry-neurology-and-neuro-oncology
#8
REVIEW
Paul L Wood
Metabolomics research has the potential to provide biomarkers for the detection of disease, for subtyping complex disease populations, for monitoring disease progression and therapy, and for defining new molecular targets for therapeutic intervention. These potentials are far from being realized because of a number of technical, conceptual, financial, and bioinformatics issues. Mass spectrometry provides analytical platforms that address the technical barriers to success in metabolomics research; however, the limited commercial availability of analytical and stable isotope standards has created a bottleneck for the absolute quantitation of a number of metabolites...
January 2014: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/23269912/systems-biology-bioinformatics-and-biomarkers-in-neuropsychiatry
#9
Ali Alawieh, Fadi A Zaraket, Jian-Liang Li, Stefania Mondello, Amaly Nokkari, Mahdi Razafsha, Bilal Fadlallah, Rose-Mary Boustany, Firas H Kobeissy
Although neuropsychiatric (NP) disorders are among the top causes of disability worldwide with enormous financial costs, they can still be viewed as part of the most complex disorders that are of unknown etiology and incomprehensible pathophysiology. The complexity of NP disorders arises from their etiologic heterogeneity and the concurrent influence of environmental and genetic factors. In addition, the absence of rigid boundaries between the normal and diseased state, the remarkable overlap of symptoms among conditions, the high inter-individual and inter-population variations, and the absence of discriminative molecular and/or imaging biomarkers for these diseases makes difficult an accurate diagnosis...
2012: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/21717509/bioinformatic-analyses-to-select-phenotype-affecting-polymorphisms-in-htr2c-gene
#10
Francesco Piva, Matteo Giulietti, Luisa Baldelli, Bernardo Nardi, Cesario Bellantuono, Tatiana Armeni, Franca Saccucci, Giovanni Principato
OBJECTIVE: Single nucleotide polymorphisms (SNPs) in serotonin related genes influence mental disorders, responses to pharmacological and psychotherapeutic treatments. In planning association studies, researchers that want to investigate new SNPs have to select some among a large number of candidates. Our aim is to guide researchers in the selection of the most likely phenotype affecting polymorphisms. Here, we studied serotonin receptor 2C (HTR2C) SNPs because, till now, only relatively few of about 2000 are investigated...
August 2011: Human Psychopharmacology
https://www.readbyqxmd.com/read/21682950/using-electronic-medical-records-to-enable-large-scale-studies-in-psychiatry-treatment-resistant-depression-as-a-model
#11
R H Perlis, D V Iosifescu, V M Castro, S N Murphy, V S Gainer, J Minnier, T Cai, S Goryachev, Q Zeng, P J Gallagher, M Fava, J B Weilburg, S E Churchill, I S Kohane, J W Smoller
BACKGROUND: Electronic medical records (EMR) provide a unique opportunity for efficient, large-scale clinical investigation in psychiatry. However, such studies will require development of tools to define treatment outcome. METHOD: Natural language processing (NLP) was applied to classify notes from 127 504 patients with a billing diagnosis of major depressive disorder, drawn from out-patient psychiatry practices affiliated with multiple, large New England hospitals...
January 2012: Psychological Medicine
https://www.readbyqxmd.com/read/20196180/an-improved-in-silico-selection-of-phenotype-affecting-polymorphisms-in-slc6a4-htr1a-and-htr2a-genes
#12
COMPARATIVE STUDY
Francesco Piva, Matteo Giulietti, Bernardo Nardi, Cesario Bellantuono, Giovanni Principato
OBJECTIVE: Among the experimentally assessed DNA variations in serotonin related genes, some influence physiological expression of personality and mental disorders, others alter the responses to pharmacological and/or psychotherapeutic treatments. Because of the huge number of polymorphisms lying in genes and of the great length of time necessary to perform association studies, a selection of the variations being studied is a necessary and crucial step. METHODS: In this work we used the most updated and assessed bioinformatic tools to predict the phenotype affecting polymorphisms of the human HTR1A, HTR2A and SLC6A4 serotonin related genes...
March 2010: Human Psychopharmacology
https://www.readbyqxmd.com/read/19242821/genomics-and-identity-the-bioinformatisation-of-human-life
#13
REVIEW
Hub Zwart
The genomics "revolution" is spreading. Originating in the molecular life sciences, it initially affected a number of biomedical research fields such as cancer genomics and clinical genetics. Now, however, a new "wave" of genomic bioinformation is transforming a widening array of disciplines, including those that address the social, historical and cultural dimensions of human life. Increasingly, bioinformation is affecting "human sciences" such as psychiatry, psychology, brain research, behavioural research ("behavioural genomics"), but also anthropology and archaeology ("bioarchaeology")...
June 2009: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/18855673/computational-models-of-neuronal-biophysics-and-the-characterization-of-potential-neuropharmacological-targets
#14
REVIEW
Michele Ferrante, Kim T Blackwell, Michele Migliore, Giorgio A Ascoli
The identification and characterization of potential pharmacological targets in neurology and psychiatry is a fundamental problem at the intersection between medicinal chemistry and the neurosciences. Exciting new techniques in proteomics and genomics have fostered rapid progress, opening numerous questions as to the functional consequences of ligand binding at the systems level. Psycho- and neuro-active drugs typically work in nerve cells by affecting one or more aspects of electrophysiological activity. Thus, an integrated understanding of neuropharmacological agents requires bridging the gap between their molecular mechanisms and the biophysical determinants of neuronal function...
2008: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/18644854/genetic-research-in-schizophrenia-new-tools-and-future-perspectives
#15
Lars Bertram
Genetically, schizophrenia is a complex disease whose pathogenesis is likely governed by a number of different risk factors. While substantial efforts have been made to identify the underlying susceptibility alleles over the past 2 decades, they have been of only limited success. Each year, the field is enriched with nearly 150 additional genetic association studies, each of which either proposes or refutes the existence of certain schizophrenia genes. To facilitate the evaluation and interpretation of these findings, we have recently created a database for genetic association studies in schizophrenia ("SzGene"; available at http://www...
September 2008: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/15121641/pharmacogenetics-of-psychotropic-drug-response
#16
REVIEW
Anil K Malhotra, Greer M Murphy, James L Kennedy
OBJECTIVE: Molecular genetic approaches provide a novel method of dissecting the heterogeneity of psychotropic drug response. These pharmacogenetic strategies offer the prospect of identifying biological predictors of psychotropic drug response and could provide the means of determining the molecular substrates of drug efficacy and drug-induced adverse events. METHOD: The authors discuss methods issues in executing pharmacogenetic studies, review the first generation of pharmacogenetic studies of psychotropic drug response, and consider future directions for this rapidly evolving field...
May 2004: American Journal of Psychiatry
https://www.readbyqxmd.com/read/15048644/candidate-genes-for-nicotine-dependence-via-linkage-epistasis-and-bioinformatics
#17
Patrick F Sullivan, Benjamin M Neale, Edwin van den Oord, Michael F Miles, Michael C Neale, Cynthia M Bulik, Peter R Joyce, Richard E Straub, Kenneth S Kendler
Many smoking-related phenotypes are substantially heritable. One genome scan of nicotine dependence (ND) has been published and several others are in progress and should be completed in the next 5 years. The goal of this hypothesis-generating study was two-fold. First, we present further analyses of our genome scan data for ND published by Straub et al. [1999: Mol Psychiatry 4:129-144] (PMID: 10208445). Second, we used the method described by Cox et al. [1999: Nat Genet 21:213-215] (PMID: 9988276) to search for epistatic loci across the markers used in the genome scan...
April 1, 2004: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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