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https://www.readbyqxmd.com/read/28533147/diversities-of-behavioral-traits-and-neuropsychological-function-in-different-substance-addiction
#1
Hui-Yi Wang, Tzong-Shi Wang, Yi-Chyan Chen
OBJECTIVE: There are various temperaments and personality characters that modulate the development of substance addiction. The pharmacological properties of substances would alter the homeostasis of brain function and influence the neuropsychological performance through different neurotransmissions which then facilitate diverse emotional and behavioral responses. Our goal is to assess the interaction between personality characteristics, neuropsychological performances and Stroop interference in alcoholics, heroin and amphetamine dependent persons...
May 19, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28523735/variability-in-prescription-opioid-intake-and-reinforcement-amongst-129-substrains
#2
Susan M Jimenez, Aiden F Healy, Michal A Coelho, Chelsea N Brown, Tod E Kippin, Karen K Szumlinski
Opioid abuse in the United States has reached epidemic proportions, with treatment admissions and deaths associated with prescription opioid abuse quadrupling over the past 10 years. Although genetics are theorized to contribute substantially to inter-individual variability in the development, severity, and treatment outcomes of opioid abuse/addiction, little direct preclinical study has focused on the behavioral genetics of prescription opioid reinforcement and drug-taking. Herein, we employed different 129 substrains of mice currently available from The Jackson Laboratory (129S1/SvlmJ, 129X1/SvJ, 129S4/SvJaeJ and 129P3/J) as a model system of genetic variation and assayed mice for oral opioid intake and reinforcement, as well as behavioral and somatic signs of dependence...
May 19, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28522581/conformational-dynamics-of-the-frameshift-stimulatory-structure-in-hiv-1
#3
Dustin B Ritchie, Tonia R Cappellano, Collin Tittle, Negar Rezajooei, Logan Rouleau, William Ka Sikkema, Michael T Woodside
Programmed ribosomal frameshifting (PRF) in HIV-1 is thought to be stimulated by a hairpin in the mRNA, although a pseudoknot-like triplex has also been proposed. Because the conformational dynamics of the stimulatory structure under tension applied by the ribosomal helicase during translation may play an important role in PRF, we used optical tweezers to apply tension to the HIV stimulatory structure and monitor its unfolding and refolding dynamics. The folding and unfolding kinetics and energy landscape of the hairpin were measured by ramping the force on the hairpin up and down, providing a detailed biophysical characterisation...
May 18, 2017: RNA
https://www.readbyqxmd.com/read/28522348/the-impact-of-genetic-and-experimental-studies-on-classification-and-therapy-of-the-epilepsies
#4
REVIEW
Giuliano Avanzini, Massimo Mantegazza, Benedetta Terragni, Laura Canafoglia, Paolo Scalmani, Silvana Franceschetti
Different types of epilepsy are associated with gene mutations, in which seizures can be the only symptom (genetic epilepsies) or be one of the elements of complex clinical pictures that are often progressive over time (epileptic or epileptogenic encephalopathies). In epileptogenic encephalopathies, epileptic seizures and other neurological and cognitive signs are symptoms of genetically determined neuropathological or neurochemical disorders. In epileptic encephalopathies, epileptic activity itself is thought to contribute to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone...
May 15, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28520984/genome-wide-association-study-of-heavy-smoking-and-daily-nondaily-smoking-in-the-hispanic-community-health-study-study-of-latinos-hchs-sol
#5
Nancy L Saccone, Leslie S Emery, Tamar Sofer, Stephanie M Gogarten, Diane M Becker, Erwin P Bottinger, Li-Shiun Chen, Robert C Culverhouse, Weimin Duan, Dana B Hancock, H Dean Hosgood, Eric O Johnson, Ruth J F Loos, Tin Louie, George Papanicolaou, Krista M Perreira, Erik J Rodriquez, Claudia Schurmann, Adrienne M Stilp, Adam A Szpiro, Gregory A Talavera, Kent D Taylor, James F Thrasher, Lisa R Yanek, Cathy C Laurie, Eliseo J Pérez-Stable, Laura J Bierut, Robert C Kaplan
Introduction: Genetic variants associated with nicotine dependence have previously been identified, primarily in European-ancestry populations. No genome-wide association studies (GWAS) have been reported for smoking behaviors in Hispanics/Latinos in the U.S. and Latin America, who are of mixed ancestry with European, African, and American Indigenous components. Methods: We examined genetic associations with smoking behaviors in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) [N=12,741 with smoking data, 5,119 ever smokers], using ~2...
May 17, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/28520745/high-handaxe-symmetry-at-the-beginning-of-the-european-acheulian-the-data-from-la-noira-france-in-context
#6
Radu Iovita, Inbal Tuvi-Arad, Marie-Hélène Moncel, Jackie Despriée, Pierre Voinchet, Jean-Jacques Bahain
In the last few decades, new discoveries have pushed the beginning of the biface-rich European Acheulian from 500 thousand years (ka) ago back to at least 700 ka, and possibly to 1 million years (Ma) ago. It remains, however, unclear to date if handaxes arrived in Europe as a fully developed technology or if they evolved locally from core-and-flake industries. This issue is also linked with another long-standing debate on the existence and behavioral, cognitive, and social meaning of a possibly chronological trend for increased handaxe symmetry throughout the Lower Paleolithic...
2017: PloS One
https://www.readbyqxmd.com/read/28515557/dandy-walker-variant-with-schizophrenia-comorbidity-or-cerebellar-cognitive-affective-syndrome
#7
Pallavi Sinha, Jatin Tarwani, Pankaj Kumar, Amit Garg
Dandy-Walker complex (DWC) is a series of neurodevelopmental anomalies involving the posterior cranial fossa. The cerebellum has long been considered to be involved in motor coordination and balance. However, it has now been noted to play an important role in higher order cognitive, emotional, and behavioral functions. The concept of cerebellar cognitive affective syndrome, describing a coherent spectrum of cognitive and behavioral disturbances in adults following cerebellar damage has long been proposed. There have been reported cases of co-occurring psychiatric symptoms and DWC in literature, but the conclusive evidence for an association between the same remains lacking...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28514064/brain-inspired-photonic-neuromorphic-devices-using-photodynamic-amorphous-oxide-semiconductors-and-their-persistent-photoconductivity
#8
Minkyung Lee, Woobin Lee, Seungbeom Choi, Jeong-Wan Jo, Jaekyun Kim, Sung Kyu Park, Yong-Hoon Kim
The combination of a neuromorphic architecture and photonic computing may open up a new era for computational systems owing to the possibility of attaining high bandwidths and the low-computation-power requirements. Here, the demonstration of photonic neuromorphic devices based on amorphous oxide semiconductors (AOSs) that mimic major synaptic functions, such as short-term memory/long-term memory, spike-timing-dependent plasticity, and neural facilitation, is reported. The synaptic functions are successfully emulated using the inherent persistent photoconductivity (PPC) characteristic of AOSs...
May 17, 2017: Advanced Materials
https://www.readbyqxmd.com/read/28507526/behavioral-and-neural-manifestations-of-reward-memory-in-carriers-of-low-expressing-versus-high-expressing-genetic-variants-of-the-dopamine-d2-receptor
#9
Anni Richter, Adriana Barman, Torsten Wüstenberg, Joram Soch, Denny Schanze, Anna Deibele, Gusalija Behnisch, Anne Assmann, Marieke Klein, Martin Zenker, Constanze Seidenbecher, Björn H Schott
Dopamine is critically important in the neural manifestation of motivated behavior, and alterations in the human dopaminergic system have been implicated in the etiology of motivation-related psychiatric disorders, most prominently addiction. Patients with chronic addiction exhibit reduced dopamine D2 receptor (DRD2) availability in the striatum, and the DRD2 TaqIA (rs1800497) and C957T (rs6277) genetic polymorphisms have previously been linked to individual differences in striatal dopamine metabolism and clinical risk for alcohol and nicotine dependence...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28507465/distribution-of-polymorphic-variants-of-cyp2a6-and-their-involvement-in-nicotine-addiction
#10
REVIEW
Luis A López-Flores, Gloria Pérez-Rubio, Ramcés Falfán-Valencia
Tobacco consumption has become a major public health issue, which has motivated studies to identify and understand the biological processes involved in the smoking behavior for prevention and smoking cessation treatments. CYP2A6 has been identified as the main gene that codifies the enzyme that metabolizes nicotine. Many alleles have been identified after the discovery of CYP2A6, suggesting a wide interethnic variability and a diverse smoking behavior of the allele carrying individuals. The main purpose of this review is to update and highlight the effects of the CYP2A6 gene variability related to tobacco consumption reported from diverse human populations...
2017: EXCLI journal
https://www.readbyqxmd.com/read/28507316/autism-spectrum-disorders-and-autistic-traits-share-genetics-and-biology
#11
J Bralten, K J van Hulzen, M B Martens, T E Galesloot, A Arias Vasquez, L A Kiemeney, J K Buitelaar, J W Muntjewerff, B Franke, G Poelmans
Autism spectrum disorders (ASDs) and autistic traits in the general population may share genetic susceptibility factors. In this study, we investigated such potential overlap based on common genetic variants. We developed and validated a self-report questionnaire of autistic traits in adults. We then conducted genome-wide association studies (GWASs) of six trait scores derived from the questionnaire through exploratory factor analysis in 1981 adults from the general population. Using the results from the Psychiatric Genomics Consortium GWAS of ASDs, we observed genetic sharing between ASDs and the autistic traits 'childhood behavior', 'rigidity' and 'attention to detail'...
May 16, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28506689/genetic-factors-interact-with-tobacco-smoke-to-modify-risk-for-inflammatory-bowel-disease-in-humans-and-mice
#12
Pankaj Yadav, David Ellinghaus, Gaëlle Rémy, Sandra Freitag-Wolf, Anabelle Cesaro, Frauke Degenhardt, Gabrielle Boucher, Myriam Delacre, Laurent Peyrin-Biroulet, Muriel Pichavant, John D Rioux, Philippe Gosset, Andre Franke, L Philip Schumm, Michael Krawczak, Mathias Chamaillard, Astrid Dempfle, Vibeke Andersen
BACKGROUND & AIMS: The role of tobacco smoke in the etiology of inflammatory bowel disease (IBD) is unclear. We investigated interactions between genes and smoking (gene-smoking interactions) that affect risk for Crohn's disease (CD) and ulcerative colitis (UC) in a case-only study of patients and in mouse models of IBD. METHODS: We used 55 immunochip-wide data sets that included 19,735 IBD cases (10,856 CD cases and 8879 UC cases) of known smoking status. We performed 3 meta-analyses each for CD, UC, and IBD (CD and UC combined), comparing data for never vs ever smokers, never vs current smokers, and never vs former smokers...
May 12, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28506304/characterization-of-genetic-aberrations-in-a-single-case-of-metastatic-thymic-adenocarcinoma
#13
Yeonghun Lee, Sehhoon Park, Se-Hoon Lee, Hyunju Lee
BACKGROUND: Thymic adenocarcinoma is an extremely rare subtype of thymic epithelial tumors. Due to its rarity, there is currently no sequencing approach for thymic adenocarcinoma. METHODS: We performed whole exome and transcriptome sequencing on a case of thymic adenocarcinoma and performed subsequent validation using Sanger sequencing. RESULTS: The case of thymic adenocarcinoma showed aggressive behaviors with systemic bone metastases. We identified a high incidence of genetic aberrations, which included somatic mutations in RNASEL, PEG10, TNFSF15, TP53, TGFB2, and FAT1...
May 15, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28505974/state-of-play-in-alzheimer-s-disease-genetics
#14
Jin-Bao Zhu, Chen-Chen Tan, Lan Tan, Jin-Tai Yu
Alzheimer's disease (AD), the main form of dementia in the elderly, is the most common progressive neurodegenerative disease characterized by rapidly progressive cognitive dysfunction and behavior impairment. AD exhibits a considerable heritability and great advances have been made in approaches to searching the genetic etiology of AD. In AD genetic studies, methods have developed from classic linkage-based and candidate-gene-based association studies to genome-wide association studies (GWAS) and next generation sequencing...
May 11, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28502675/genotype-guided-dosing-of-warfarin-through-modeling-and-simulation
#15
Jiexin Deng, Valvanera Vozmediano Esteban, Monica Rodriguez, Larisa H Cavallari, Stephan Schmidt
Current genotype-guided algorithms for warfarin dosing fail to deliver optimal performance in two aspects: 1) these algorithms are not able to achieve the same level of benefits in non-white populations, since they were developed based on multivariate regression analysis with mostly European/White data and did not include genetic variants found frequently in non-white populations; 2) these algorithms do not account for the dynamic dose/response relationship and were limited in their usefulness to guide dosing during the initiation phase, as the possession of variant VKORC1 and/or CYP2C9 polymorphisms has been associated with a more rapid attainment of target international normalized ratio (INR) and higher risk of over-anticoagulation even in genotype-guided patients...
May 11, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28500752/which-ante-mortem-clinical-features-predict-progressive-supranuclear-palsy-pathology
#16
Gesine Respondek, Carolin Kurz, Thomas Arzberger, Yaroslau Compta, Elisabet Englund, Leslie W Ferguson, Ellen Gelpi, Armin Giese, David J Irwin, Wassilios G Meissner, Christer Nilsson, Alexander Pantelyat, Alex Rajput, John C van Swieten, Claire Troakes, Keith A Josephs, Anthony E Lang, Brit Mollenhauer, Ulrich Müller, Jennifer L Whitwell, Angelo Antonini, Kailash P Bhatia, Yvette Bordelon, Jean-Christophe Corvol, Carlo Colosimo, Richard Dodel, Murray Grossman, Jan Kassubek, Florian Krismer, Johannes Levin, Stefan Lorenzl, Huw Morris, Peter Nestor, Wolfgang H Oertel, Gil D Rabinovici, James B Rowe, Thilo van Eimeren, Gregor K Wenning, Adam Boxer, Lawrence I Golbe, Irene Litvan, Maria Stamelou, Günter U Höglinger
BACKGROUND: Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes. OBJECTIVE: To identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP. METHODS: We performed a systematic review of the literature published since 1996 to identify clinical features and investigations that may predict or exclude PSP pathology...
May 13, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28499211/oxytocin-receptor-and-g-protein-polymorphisms-in-patients-with-depression-and-separation-anxiety
#17
Barbara Costa, Stefano Pini, David S Baldwin, Derrick Silove, Vijaya Manicavasagar, Marianna Abelli, Fabio Coppedè, Claudia Martini
BACKGROUND: The impact of combined variants of Oxytocin Receptor (OXTR) and G protein β3 subunit genes was investigated in relation to retrospective reports of childhood as well as contemporary adult separation anxiety (SA), based on evidence of a β/γ dimer-mediated signaling for OXTR. METHODS: A case-control association study (225 healthy adults and 188 outpatients with depression) was performed to establish Risk-Combined Genotype (RCG) of the studied variants (OXTR rs53576 and the functional Gβ3 subunit rs5443)...
March 27, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28493733/dimensional-conceptualizations-of-impulsivity
#18
Sarah A Griffin, Donald R Lynam, Douglas B Samuel
Impulsivity is a transdiagnostic dimension of crucial importance to understanding psychopathology, as it is highly relevant to a wide array of maladaptive life outcomes including substance use, criminality, and other risky behaviors. There exist a variety of operationalizations of impulsivity across the literature distinct nomological networks. In fact, research suggests that "impulsivity" is a multifaceted construct comprised of at least 4 distinct traits that have unique pathways to maladaptive behaviors...
May 11, 2017: Personality Disorders
https://www.readbyqxmd.com/read/28493123/cloning-of-single-chain-antibody-variants-by-overlap-extension-pcr-for-evaluation-of-antibody-expression-in-transient-gene-expression
#19
Patrick Mayrhofer, Renate Kunert
Single-chain fragment variable-fragment crystallizable antibody constructs (scFv-Fc) are homodimeric proteins representing valuable alternatives to heterotetrameric full-length IgG molecules to study protein properties and product-dependent cellular behavior. In contrast to naturally occurring antibodies, these artificial molecules are assembled from functional antibody domains to reduce molecule complexity and enhance antibody expression levels. The scFv-Fc format retains critical antibody functions such as antigen binding affinity and antibody effector functions...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28487885/novel-de-novo-variant-in-ebf3-is-likely-to-impact-dna-binding-in-a-patient-with-a-neurodevelopmental-disorder-and-expanded-phenotypes-patient-report-in-silico-functional-assessment-and-review-of-published-cases
#20
Patrick R Blackburn, Sarah S Barnett, Michael T Zimmermann, Margot A Cousin, Charu Kaiwar, Filippo Pinto E Vairo, Zhiyv Niu, Matthew J Ferber, Raul A Urrutia, Duygu Selcen, Eric W Klee, Pavel N Pichurin
Pathogenic variants in EBF3 were recently described in three back-to-back publications in association with a novel neurodevelopmental disorder characterized by intellectual disability, speech delay, ataxia, and facial dysmorphisms. In this report, we describe an additional patient carrying a de novo missense variant in EBF3 (c.487C>T, p.(Arg163Trp)) that falls within a conserved residue in the zinc knuckle motif of the DNA binding domain. Without a solved structure of the DNA binding domain, we generated a homology-based atomic model and performed molecular dynamics simulations for EBF3, which predicted decreased DNA affinity for p...
May 2017: Cold Spring Harbor Molecular Case Studies
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