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https://www.readbyqxmd.com/read/28696411/combined-study-of-genetic-and-epigenetic-biomarker-risperidone-treatment-efficacy-in-chinese-han-schizophrenia-patients
#1
Y Shi, M Li, C Song, Q Xu, R Huo, L Shen, Q Xing, D Cui, W Li, J Zhao, L He, S Qin
Nowadays, risperidone is an atypical antipsychotic drug that has been increasingly used for treatment and maintenance therapy in schizophrenia. However, partially affected by genetic or environmental factors, there is significant difference in treatment outcomes among patients. In this study, we aimed to interpret the difference between good and poor responders treated with risperidone in both genetic and epigenetic levels in 288 mainland Chinese patients. We recruited a Henan cohort including 98 patients as initial discovery group and then confirmed our results in Shanghai cohort...
July 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28692863/identification-of-genetic-correlates-of-response-to-risperidone-findings-of-a-multicentric-schizophrenia-study-from-india
#2
Gurjit Kaur, Deepti Gupta, Bir Singh Chavan, Vikas Sinhmar, Rajendra Prasad, Adarsh Tripathi, P D Garg, Rajiv Gupta, Hitesh Khurana, Shiv Gautam, Mushtaq Ahmed Margoob, Jitender Aneja
Risperidone is most commonly used as an antipsychotic in India for treatment of schizophrenia. However, the response to treatment with risperidone is affected by many factors, genetic factors being one of them. So, we attempted to evaluate the association between dopamine D2 (DRD2) receptor, serotonergic (5HT2A) receptor and CYP2D6 gene polymorphisms and response to treatment with risperidone in persons with schizophrenia from North India. It was a multicentric 12-weeks prospective study, undertaken in patients diagnosed with schizophrenia according to International Classification of Diseases 10th revision, Diagnostic Criteria for Research module (ICD-10 DCR)...
July 6, 2017: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/28692418/contribution-of-genetic-polymorphisms-and-haplotypes-in-drd2-bdnf-and-opioid-receptors-to-heroin-dependence-and-endophenotypes-among-the-han-chinese
#3
Xuan Gao, Youxin Wang, Minglin Lang, Li Yuan, Albert Stuart Reece, Wei Wang
Heroin and drug dependence are major contributors to global health burden worldwide, but their underlying mechanisms remain elusive and may vary from population to population. Reward- and memory-related candidate genes dopamine D2 receptor (DRD2) and brain-derived neurotrophic factor (BDNF), as well as the opioid receptor genes (OPRM1, OPRD1, and OPRK1), have been implicated in drug dependence, but relatively little is known on their contributions to heroin dependence in populations worldwide. Hence, we evaluated the contributions of the above five candidate genes in heroin dependence and several important related endophenotypes (the onset age of heroin use and subjective response to first heroin use), at single single-nucleotide polymorphism as well as haplotype levels, in a Han Chinese population sample...
July 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28687316/levodopa-l-dopa-attenuates-endoplasmic-reticulum-stress-response-and-cell-death-signaling-through-drd2-in-sh-sy5y-neuronal-cells-under-%C3%AE-synuclein-induced-toxicity
#4
Juhyun Song, Byeong C Kim, Dai-Trang T Nguyen, Manikandan Samidurai, Seong-Min Choi
Parkinson's disease (PD) is characterized by the formation of Lewy bodies (LBs) in dopaminergic neurons. α-Synuclein (α-syn), a major protein component of LBs, is known to regulate synaptic plasticity, with a crucial role in memory and motor function in the central nervous system. Levodopa (L-3,4-dihydroxyphenylalanine; also known as L-DOPA) is considered the most effective medication for controlling the symptoms of PD. However, it is unclear whether L-DOPA improves the neuropathology of PD. In the present study, we investigated the effect of L-DOPA on SH-SY5Y neuronal cells under α-syn-induced toxicity...
July 4, 2017: Neuroscience
https://www.readbyqxmd.com/read/28673279/pharmacogenetic-evaluation-to-assess-breakthrough-psychosis-with-aripiprazole-long-acting-injection-a-case-report
#5
Seenae Eum, Mark E Schneiderhan, Jacob T Brown, Adam M Lee, Jeffrey R Bishop
BACKGROUND: Given the complex nature of symptom presentation and medication regimens, psychiatric clinics may benefit from additional tools to personalize treatments. Utilizing pharmacogenetic information may be helpful in assessing unique responses to therapy. We report herein a case of wearing-off phenomena during treatment with aripiprazole long-acting injectable (LAI) and a proof of concept strategy of how pharmacogenetic information may be used to assess possible genetic factors and also hypothesize potential mechanisms for further study...
July 3, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28624582/further-replication-of-the-synergistic-interaction-between-lphn3-and-the-ntad-gene-cluster-on-adhd-and-its-clinical-course-throughout-adulthood
#6
Djenifer B Kappel, Jaqueline B Schuch, Diego L Rovaris, Bruna S da Silva, Renata B Cupertino, Cristina Winkler, Stefania P Teche, Eduardo S Vitola, Rafael G Karam, Luis A Rohde, Claiton H D Bau, Eugenio H Grevet, Nina R Mota
Attention-Deficit/Hyperactivity Disorder (ADHD) is a common and highly heritable neuropsychiatric disorder. Despite the high heritability, the unraveling of specific genetic factors related to ADHD is hampered by its considerable genetic complexity. Recent evidence suggests that gene-gene interactions can explain part of this complexity. We examined the impact of strongly supported interaction effects between the LPHN3 gene and the NTAD gene cluster (NCAM1-TTC12-ANKK1-DRD2) in a 7-year follow-up of a clinical sample of adults with ADHD, addressing associations with susceptibility, symptomatology and stability of diagnosis...
June 15, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28583861/genetic-deletion-of-gpr52-enhances-the-locomotor-stimulating-effect-of-an-adenosine-a2a-receptor-antagonist-in-mice-a-potential-role-of-gpr52-in-the-function-of-striatopallidal-neurons
#7
Keiji Nishiyama, Hirobumi Suzuki, Minoru Maruyama, Tomoki Yoshihara, Hiroyuki Ohta
G protein-coupled receptor 52 (GPR52) is largely co-expressed with dopamine D2 receptor (DRD2) in the striatum and nucleus accumbens, and this expression pattern is similar to that of adenosine A2A receptor (ADORA2A). GPR52 has been proposed as a therapeutic target for positive symptoms of schizophrenia, based on observations from pharmacological and transgenic mouse studies. However, the physiological role of GPR52 in dopaminergic functions in the basal ganglia remains unclear. Here, we used GPR52 knockout (KO) mice to examine the role of GPR52 in dopamine receptor-mediated and ADORA2A-mediated locomotor activity and dopamine receptor signaling...
June 2, 2017: Brain Research
https://www.readbyqxmd.com/read/28582422/role-of-lrrk2-in-the-regulation-of-dopamine-receptor-trafficking
#8
Mauro Rassu, Maria Grazia Del Giudice, Simona Sanna, Jean Marc Taymans, Michele Morari, Alberto Brugnoli, Martina Frassineti, Alessandra Masala, Sonia Esposito, Manuela Galioto, Cristiana Valle, Maria Teresa Carri, Alice Biosa, Elisa Greggio, Claudia Crosio, Ciro Iaccarino
Mutations in LRRK2 play a critical role in both familial and sporadic Parkinson's disease (PD). Up to date, the role of LRRK2 in PD onset and progression remains largely unknown. However, experimental evidence highlights a critical role of LRRK2 in the control of vesicle trafficking that in turn may regulate different aspects of neuronal physiology. We have analyzed the role of LRRK2 in regulating dopamine receptor D1 (DRD1) and D2 (DRD2) trafficking. DRD1 and DRD2 are the most abundant dopamine receptors in the brain...
2017: PloS One
https://www.readbyqxmd.com/read/28582390/polymorphisms-in-dopaminergic-system-genes-association-with-criminal-behavior-and-self-reported-aggression-in-violent-prison-inmates-from-pakistan
#9
Muhammad Imran Qadeer, Ali Amar, J John Mann, Shahida Hasnain
Genetic factors contribute to antisocial and criminal behavior. Dopamine transporter DAT-1 (SLC6A3) and DRD2 gene for the dopamine-2 receptor are dopaminergic system genes that regulate dopamine reuptake and signaling, and may be part of the pathogenesis of psychiatric disorders including antisocial behaviors and traits. No previous studies have analyzed DAT-1 and DRD2 polymorphisms in convicted murderers, particularly from Indian subcontinent. In this study we investigated the association of 40 bp VNTR polymorphism of DAT-1 and Taq1 variant of DRD2 gene (rs1800479) with criminal behavior and self-reported aggression in 729 subjects, including 370 men in Pakistani prisons convicted of first degree murder(s) and 359 control men without any history of violence or criminal tendency...
2017: PloS One
https://www.readbyqxmd.com/read/28562358/a-phase-2-study-of-the-first-imipridone-onc201-a-selective-drd2-antagonist-for-oncology-administered-every-three-weeks-in-recurrent-glioblastoma
#10
Isabel Arrillaga-Romany, Andrew S Chi, Joshua E Allen, Wolfgang Oster, Patrick Y Wen, Tracy T Batchelor
ONC201 is an oral, small molecule selective antagonist of the G protein-coupled receptor DRD2 that causes p53-independent apoptosis in tumor cells via integrated stress response activation and Akt/ERK inactivation. We performed a Phase II study that enrolled 17 patients with recurrent, bevacizumab-naïve, IDH1/2 WT glioblastoma who received 625mg ONC201 every three weeks. Median OS was 41.6 weeks with OS6 of 71% and OS9 of 53%. Seven of 17 patients are alive. PFS6 was 11.8% with two patients remaining on study who continue to receive ONC201 for >12 months...
May 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28557180/targeting-g-protein-coupled-receptors-by-capture-compound-mass-spectrometry-ccms-a-case-study-with-sertindole
#11
Christian Blex, Simon Michaelis, Anna K Schrey, Jens Furkert, Jenny Eichhorst, Kathrin Bartho, Frederick G Quast, Anett Marais, Matthias Hakelberg, Uschi Gruber, Sylvia Niquet, Oliver Popp, Friedrich Kroll, Michael Sefkow, Ralf Schülein, Dreger Mathias, Hubert Köster
Unbiased chemoproteomic profiling of small molecule interactions with endogenous proteins is important for drug discovery. For meaningful results, all protein classes have to be tractable, including G-protein coupled receptors (GPCRs). These are hardly tractable by affinity pulldown from lysates. We report a Capture Compound (CC)-based strategy to target and identify GPCRs directly from living cells. We synthesized CCs with sertindole attached to the CC scaffold in different orientations to target the dopamine D2 receptor (DRD2) heterologously expressed in HEK293 cells...
May 29, 2017: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/28549544/genetic-dissection-of-five-ethnic-groups-from-punjab-north-west-india-a-study-based-on-autosomal-markers
#12
Gagandeep Singh, Indu Talwar, Harkirat Singh Sandhu, Kawaljit Matharoo, A J S Bhanwer
The present study assessed the applicability of Alu insertion elements and Single Nucleotide Polymorphisms (SNPs) in forensic identification and estimated the extent of genetic variation in five major ethnic groups of Punjab, North-West India. A total of 1012 unrelated samples belonging to Banias, Brahmins, Jat Sikhs, Khatris and Scheduled Castes were genotyped for four Alu elements (ACE, APO, PLAT, D1) and six Single Nucleotide Polymorphisms [ESR (PvuII), LPL (PvuII), HTR2A (MspI), DRD2 Taq1A, Taq1B, Taq1D]...
May 2017: Legal Medicine
https://www.readbyqxmd.com/read/28548579/genetic-variation-of-the-mu-opioid-receptor-oprm1-and-dopamine-d2-receptor-drd2-is-related-to-smoking-differences-in-patients-with-schizophrenia-but-not-bipolar-disorder
#13
Mika Hirasawa-Fujita, Michael J Bly, Vicki L Ellingrod, Gregory W Dalack, Edward F Domino
It is not known why mentally ill persons smoke excessively. Inasmuch as endogenous opioid and dopaminergic systems are involved in smoking reinforcement, it is important to study mu opioid receptor (OPRM1) A118G (rs1799971), dopamine D2 receptor (DRD2) Taq1A (rs1800497) genotypes, and sex differences among patients with schizophrenia or bipolar disorder. Smokers and nonsmokers with schizophrenia (n=177) and bipolar disorder (n=113) were recruited and genotyped. They were classified into three groups: current smoker, former smoker, and never smoker by tobacco smoking status self-report...
December 0: Clinical Schizophrenia & related Psychoses
https://www.readbyqxmd.com/read/28538174/schizophrenia-related-microdeletion-impairs-emotional-memory-through-microrna-dependent-disruption-of-thalamic-inputs-to-the-amygdala
#14
Tae-Yeon Eom, Ildar T Bayazitov, Kara Anderson, Jing Yu, Stanislav S Zakharenko
Individuals with 22q11.2 deletion syndrome (22q11DS) are at high risk of developing psychiatric diseases such as schizophrenia. Individuals with 22q11DS and schizophrenia are impaired in emotional memory, anticipating, recalling, and assigning a correct context to emotions. The neuronal circuits responsible for these emotional memory deficits are unknown. Here, we show that 22q11DS mouse models have disrupted synaptic transmission at thalamic inputs to the lateral amygdala (thalamo-LA projections). This synaptic deficit is caused by haploinsufficiency of the 22q11DS gene Dgcr8, which is involved in microRNA processing, and is mediated by the increased dopamine receptor Drd2 levels in the thalamus and by reduced probability of glutamate release from thalamic inputs...
May 23, 2017: Cell Reports
https://www.readbyqxmd.com/read/28535798/using-kalirin-conditional-knockout-mice-to-distinguish-its-role-in-dopamine-receptor-mediated-behaviors
#15
Taylor P LaRese, Yan Yan, Betty A Eipper, Richard E Mains
BACKGROUND: Mice lacking Kalirin-7 (Kal7(KO)), a Rho GDP/GTP exchange factor, self-administer cocaine at a higher rate than wildtype mice, and show an exaggerated locomotor response to experimenter-administered cocaine. Kal7, which localizes to post-synaptic densities at glutamatergic synapses, interacts directly with the GluN2B subunit of the N-methyl-D-aspartate (NMDA; GluN) receptor. Consistent with these observations, Kal7 plays an essential role in NMDA receptor dependent long term potentiation and depression, and glutamatergic transmission plays a key role in the response to chronic cocaine...
May 23, 2017: BMC Neuroscience
https://www.readbyqxmd.com/read/28534928/music-genetics-research-association-with-musicality-of-a-polymorphism-in-the-avpr1a-gene
#16
Luiza Monteavaro Mariath, Alexandre Mauat da Silva, Thayne Woycinck Kowalski, Gustavo Schulz Gattino, Gustavo Andrade de Araujo, Felipe Grahl Figueiredo, Alice Tagliani-Ribeiro, Tatiana Roman, Fernanda Sales Luiz Vianna, Lavínia Schuler-Faccini, Jaqueline Bohrer Schuch
Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biological pathways related to these traits are not fully understood. Our hypothesis in the current study is that genes associated with different behaviors could also influence the musical phenotype...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28523234/the-effect-of-comt-val158met-and-drd2-c957t-polymorphisms-on-executive-function-and-the-impact-of-early-life-stress
#17
Kristel Klaus, Kevin Butler, Simon J Durrant, Manir Ali, Chris F Inglehearn, Timothy L Hodgson, Humberto Gutierrez, Kyla Pennington
INTRODUCTION: Previous research has indicated that variation in genes encoding catechol-O-methyltransferase (COMT) and dopamine receptor D2 (DRD2) may influence cognitive function and that this may confer vulnerability to the development of mental health disorders such as schizophrenia. However, increasing evidence suggests environmental factors such as early life stress may interact with genetic variants in affecting these cognitive outcomes. This study investigated the effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress in healthy adults...
May 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28512340/using-an-event-history-with-risk-free-model-to-study-the-genetics-of-alcoholism
#18
Hsin-Chou Yang, I-Chen Chen, Yuh-Chyuan Tsay, Zheng-Rong Li, Chun-Houh Chen, Hai-Gwo Hwu, Chen-Hsin Chen
Case-control genetic association studies typically ignore possible later disease onset in currently healthy subjects and assume that subjects with diseases equally contribute to the likelihood for inference, regardless of their onset age. Therefore, we used an event-history with risk-free model to simultaneously characterize alcoholism susceptibility and onset age in 65 independent non-Hispanic Caucasian males in the Collaborative Study on the Genetics of Alcoholism. Following data quality control, we analysed 22 single nucleotide polymorphisms (SNPs) on 12 candidate genes...
May 16, 2017: Scientific Reports
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
#19
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/28505190/dynamic-interaction-between-fetal-adversity-and-a-genetic-score-reflecting-dopamine-function-on-developmental-outcomes-at-36-months
#20
Adrianne R Bischoff, Irina Pokhvisneva, Étienne Léger, Hélène Gaudreau, Meir Steiner, James L Kennedy, Kieran J O'Donnell, Josie Diorio, Michael J Meaney, Patrícia P Silveira
BACKGROUND: Fetal adversity, evidenced by poor fetal growth for instance, is associated with increased risk for several diseases later in life. Classical cut-offs to characterize small (SGA) and large for gestational age (LGA) newborns are used to define long term vulnerability. We aimed at exploring the possible dynamism of different birth weight cut-offs in defining vulnerability in developmental outcomes (through the Bayley Scales of Infant and Toddler Development), using the example of a gene vs...
2017: PloS One
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