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https://www.readbyqxmd.com/read/28429076/-search-for-risk-genes-in-schizophrenia
#1
D Rujescu
BACKGROUND: Schizophrenia is a severe psychiatric disease affecting approximately 0.5-1% of the general population. The relative contribution of genetic factors has been estimated to be 64-81%. OBJECTIVE: This review summarizes recent efforts to identify genetic variants associated with schizophrenia. METHODS: Relevant linkage and candidate genes as well as genome wide association studies, studies on copy number variants and next generation sequencing are presented and discussed...
April 20, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28428742/a-set-based-mixed-effect-model-for-gene-environment-interaction-and-its-application-to-neuroimaging-phenotypes
#2
Changqing Wang, Jianping Sun, Bryan Guillaume, Tian Ge, Derrek P Hibar, Celia M T Greenwood, Anqi Qiu
Imaging genetics is an emerging field for the investigation of neuro-mechanisms linked to genetic variation. Although imaging genetics has recently shown great promise in understanding biological mechanisms for brain development and psychiatric disorders, studying the link between genetic variants and neuroimaging phenotypes remains statistically challenging due to the high-dimensionality of both genetic and neuroimaging data. This becomes even more challenging when studying gene-environment interaction (G×E) on neuroimaging phenotypes...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28424317/the-williams-syndrome-prosociality-gene-gtf2i-mediates-oxytocin-reactivity-and-social-anxiety-in-a-healthy-population
#3
Tanya L Procyshyn, Jason Spence, Silven Read, Neil V Watson, Bernard J Crespi
The neurohormone oxytocin plays a central role in human social behaviour and cognition, and oxytocin dysregulation may contribute to psychiatric disorders. However, genetic factors influencing individual variation in the oxytocinergic system remain poorly understood. We genotyped 169 healthy adults for a functional polymorphism in GTF2I (general transcription factor II-I), a gene associated with high prosociality and reduced social anxiety in Williams syndrome, a condition reported to involve high oxytocin levels and reactivity...
April 2017: Biology Letters
https://www.readbyqxmd.com/read/28422133/gene-set-analysis-shows-association-between-fmrp-targets-and-autism-spectrum-disorder
#4
Arija Jansen, Gwen C Dieleman, August B Smit, Matthijs Verhage, Frank C Verhulst, Tinca J C Polderman, Danielle Posthuma
Autism spectrum disorder (ASD) is a heterogeneous group of disorders characterized by problems with social interaction, communication, and repetitive and restricted behavior. Despite its high heritability and the substantial progress made in elucidating genetic associations, the corresponding biological mechanisms are largely unknown. Our objective is to investigate the contribution of common genetic variation to biological pathways functionally involved in ASD. We conducted gene-set analyses to identify ASD-associated functional biological pathways using the statistical tools MAGMA and INRICH...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28419975/animal-models-for-neuropsychiatric-disorders-prospects-for-circuit-intervention
#5
REVIEW
Tobias Kaiser, Yang Zhou, Guoping Feng
Monogenic animal models for psychiatric diseases have enabled researchers to dissect the relationship between certain candidate genes, neural circuit abnormalities, and behavioral phenotypes along development. Early reports of phenotypic reversal after genetic restoration in mouse models sparked hope that genetic defects do not damage circuits irreversibly in early-onset disorders. However, further studies have suggested that only some circuits exhibit this plasticity, while many others require proper gene function during development...
April 15, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28419777/micrornas-as-biomarkers-for-psychiatric-disorders-with-a-focus-on-autism-spectrum-disorder-current-progress-in-genetic-association-studies-expression-profiling-and-translational-research
#6
REVIEW
Yubin Hu, Erik A Ehli, Dorret I Boomsma
MicroRNAs (miRNAs) are a group of small noncoding RNA molecules, 18-25 nucleotides in length, which can negatively regulate gene expression at the post-transcriptional level by binding to messenger RNAs. About half of all identified miRNAs in humans are expressed in the brain and display regulatory functions important for many biological processes related to the development of the central nervous system (CNS). Disruptions in miRNA biogenesis and miRNA-target interaction have been related to CNS diseases, including psychiatric disorders...
April 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28418398/intranasal-oxytocin-enhances-intrinsic-corticostriatal-functional-connectivity-in-women
#7
R A I Bethlehem, M V Lombardo, M-C Lai, B Auyeung, S K Crockford, J Deakin, S Soubramanian, A Sule, P Kundu, V Voon, S Baron-Cohen
Oxytocin may influence various human behaviors and the connectivity across subcortical and cortical networks. Previous oxytocin studies are male biased and often constrained by task-based inferences. Here, we investigate the impact of oxytocin on resting-state connectivity between subcortical and cortical networks in women. We collected resting-state functional magnetic resonance imaging (fMRI) data on 26 typically developing women 40 min following intranasal oxytocin administration using a double-blind placebo-controlled crossover design...
April 18, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28416812/a-new-locus-regulating-micall2-expression-was-identified-for-association-with-executive-inhibition-in-children-with-attention-deficit-hyperactivity-disorder
#8
L Yang, S Chang, Q Lu, Y Zhang, Z Wu, X Sun, Q Cao, Y Qian, T Jia, B Xu, Q Duan, Y Li, K Zhang, G Schumann, D Liu, J Wang, Y Wang, L Lu
Impaired executive inhibition is a core deficit of attention deficit hyperactivity disorder (ADHD), which is a common childhood-onset psychiatric disorder with high heritability. In this study, we performed a two-stage genome-wide association study of executive inhibition in ADHD in Han Chinese. We used the Stroop color-word interference test to evaluate executive inhibition. After quality control, 780 samples with phenotype and covariate data were included in the discovery stage, whereas 922 samples were included in the replication stage...
April 18, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28416787/a-family-with-hereditary-cerebellar-ataxia-finally-confirmed-as-gerstmann-straussler-scheinker-syndrome-with-p102l-mutation-in-prnp-gene
#9
Ling Long, Xiaodong Cai, Yaqing Shu, Zhengqi Lu
Gerstmann-Straussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. A 47-year-old female complained of unsteady gait and dysarthria. Seven other individuals presented similar symptoms in 3 generations of her family, and all died 4-6 years after onset. To detect causative mutations, we employed a gene analysis panel of hereditary diseases. This revealed a P102L mutation in the prion protein gene (PRNP) gene, which is commonly found in GSS featuring cerebellar ataxia...
April 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28414084/the-ywhae-gene-confers-risk-to-major-depressive-disorder-in-the-male-group-of-chinese-han-population
#10
Jie Liu, Hong-Xin Zhang, Zhi-Qiang Li, Tao Li, Jun-Yan Li, Ti Wang, You Li, Guo-Yin Feng, Yong-Yong Shi, Lin He
Schizophrenia and major depressive disorder are two major psychiatric illnesses that may share specific genetic risk factors to a certain extent. Increasing evidence suggests that the two disorders might be more closely related than previously considered. To investigate whether YWHAE gene plays a significant role in major depressive disorder in Han Chinese population, we recruited 1135 unrelated major depressive disorder patients (485 males, 650 females) and 989 unrelated controls (296 males, 693 females) of Chinese Han origin...
April 13, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28406917/methylomic-changes-in-individuals-with-psychosis-prenatally-exposed-to-endocrine-disrupting-compounds-lessons-from-diethylstilbestrol
#11
Fabrice Rivollier, Boris Chaumette, Narjes Bendjemaa, Mélanie Chayet, Bruno Millet, Nematollah Jaafari, Amina Barhdadi, Louis-Philippe Lemieux Perreault, Sylvie Provost, Marie-Pierre Dubé, Raphaël Gaillard, Marie-Odile Krebs, Oussama Kebir
BACKGROUND: In the Western world, between 1940 and 1970, more than 2 million people were exposed in utero to diethylstilbestrol (DES). In exposed individuals, and in their descendants, adverse outcomes have been linked to such exposure, including cancers, genital malformations, and less consistently, psychiatric disorders. We aimed to explore whether prenatal DES exposure would be associated with DNA methylation changes, and whether these epigenetic modifications would be associated with increased risk of psychosis...
2017: PloS One
https://www.readbyqxmd.com/read/28402333/maoa-a-novel-decision-maker-of-apoptosis-and-autophagy-in-hormone-refractory-neuroendocrine-prostate-cancer-cells
#12
Yi-Cheng Lin, Yi-Ting Chang, Mel Campbell, Tzu-Ping Lin, Chin-Chen Pan, Hsin-Chen Lee, Jean C Shih, Pei-Ching Chang
Autophagy and apoptosis are two well-controlled mechanisms regulating cell fate. An understanding of decision-making between these two pathways is in its infancy. Monoamine oxidase A (MAOA) is a mitochondrial enzyme that is well-known in psychiatric research. Emerging reports showed that overexpression MAOA is associated with prostate cancer (PCa). Here, we show that MAOA is involved in mediating neuroendocrine differentiation of PCa cells, a feature associated with hormone-refractory PCa (HRPC), a lethal type of disease...
April 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28401046/functional-neuroanatomy-in-panic-disorder-status-quo-of-the-research
#13
Thomas Sobanski, Gerd Wagner
AIM: To provide an overview of the current research in the functional neuroanatomy of panic disorder. METHODS: Panic disorder (PD) is a frequent psychiatric disease. Gorman et al (1989; 2000) proposed a comprehensive neuroanatomical model of PD, which suggested that fear- and anxiety-related responses are mediated by a so-called "fear network" which is centered in the amygdala and includes the hippocampus, thalamus, hypothalamus, periaqueductal gray region, locus coeruleus and other brainstem sites...
March 22, 2017: World Journal of Psychiatry
https://www.readbyqxmd.com/read/28400893/epidermolysis-bullosa-simplex-with-muscular-dystrophy-review-of-the-literature-and-a-case-report
#14
REVIEW
Jana Kyrova, Lenka Kopeckova, Hana Buckova, Lenka Mrazova, Karel Vesely, Marketa Hermanova, Hana Oslejskova, Lenka Fajkusova
BACKGROUND: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented. MAIN OBSERVATIONS: In our patient, skin signs of the disease developed after birth. Bilateral ptosis at the age of 8 years was considered as the first specific symptom of muscular dystrophy. Since then, severe scoliosis, urological and psychiatric complication have quickly developed...
November 30, 2016: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28400482/epigenetic-programming-of-the-neuroendocrine-stress-response-by-adult-life-stress
#15
Bart Dirven, Judith Homberg, Tamas Kozicz, Marloes Henckens
The hypothalamic-pituitary adrenal (HPA) axis is critically involved in the neuroendocrine regulation of stress adaptation, and the restoration of homeostasis following stress exposure. Dysregulation of this axis is associated with stress-related pathologies like major depressive disorder, post-traumatic stress disorder, panic disorder, and chronic anxiety. It has long been understood that stress during early life can have a significant lasting influence on the development of the neuroendocrine system and its neural regulators, partially by modifying epigenetic regulation of gene expression, with implications for health and well-being in later life...
April 11, 2017: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/28400302/decreased-comfort-food-intake-and-allostatic-load-in-adolescents-carrying-the-a3669g-variant-of-the-glucocorticoid-receptor-gene
#16
Danitsa Marcos Rodrigues, Roberta Sena Reis, Roberta Dalle Molle, Tania Diniz Machado, Amanda Brondani Mucellini, Andressa Bortoluzzi, Rudineia Toazza, Juliano Adams Pérez, Giovanni Abrahão Salum, Marilyn Agranonik, Luciano Minuzzi, Robert D Levitan, Augusto Buchweitz, Alexandre Rosa Franco, Gisele Gus Manfro, Patrícia Pelufo Silveira
BACKGROUND: The A3669G single nucleotide polymorphism (SNP) of the glucocorticoid receptor (GR) gene NR3C1 is associated with altered tissue sensitivity to glucocorticoids (GCs). GCs modulate the food reward circuitry and are implicated in increased intake of palatable foods, which can lead to the metabolic syndrome and obesity. We hypothesized that presence of the G variant of the A3669G SNP would affect preferences for palatable foods and alter metabolic, behavioural, and neural outcomes...
April 8, 2017: Appetite
https://www.readbyqxmd.com/read/28398643/systems-genetic-analysis-in-genenetwork-org
#17
Clarissa C Parker, Price E Dickson, Vivek M Philip, Mary Thomas, Elissa J Chesler
Genome-wide association studies (GWAS) have emerged as a powerful tool to identify alleles and molecular pathways that influence susceptibility to psychiatric disorders and other diseases. Forward genetics using mouse mapping populations allows for a complementary approach that provides rigorous genetic and environmental control. In this unit, we describe techniques and tools that reduce the technical burden traditionally associated with genetic mapping in mice and enhance their translational utility to human psychiatric disorders...
April 10, 2017: Current Protocols in Neuroscience
https://www.readbyqxmd.com/read/28398343/large-scale-interaction-effects-reveal-missing-heritability-in-schizophrenia-bipolar-disorder-and-posttraumatic-stress-disorder
#18
H J Woo, C Yu, K Kumar, J Reifman
Genetic susceptibility factors behind psychiatric disorders typically contribute small effects individually. A possible explanation for the missing heritability is that the effects of common variants are not only polygenic but also non-additive, appearing only when interactions within large groups are taken into account. Here, we tested this hypothesis for schizophrenia (SZ) and bipolar disorder (BP) disease risks, and identified genetic factors shared with posttraumatic stress disorder (PTSD). When considered independently, few single-nucleotide polymorphisms (SNPs) reached genome-wide significance...
April 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28398340/the-impact-of-common-dopamine-d2-receptor-gene-polymorphisms-on-d2-3-receptor-availability-c957t-as-a-key-determinant-in-putamen-and-ventral-striatum
#19
C T Smith, L C Dang, J W Buckholtz, A M Tetreault, R L Cowan, R M Kessler, D H Zald
Dopamine function is broadly implicated in multiple neuropsychiatric conditions believed to have a genetic basis. Although a few positron emission tomography (PET) studies have investigated the impact of single-nucleotide polymorphisms (SNPs) in the dopamine D2 receptor gene (DRD2) on D2/3 receptor availability (binding potential, BPND), these studies have often been limited by small sample size. Furthermore, the most commonly studied SNP in D2/3 BPND (Taq1A) is not located in the DRD2 gene itself, suggesting that its linkage with other DRD2 SNPs may explain previous PET findings...
April 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28396959/glucose-transportation-in-the-brain-and-its-impairment-in-huntington-disease-one-more-shade-of-the-energetic-metabolism-failure
#20
REVIEW
Veronica Morea, Eris Bidollari, Gianni Colotti, Annarita Fiorillo, Jessica Rosati, Lidia De Filippis, Ferdinando Squitieri, Andrea Ilari
Huntington's disease (HD) or Huntington's chorea is the most common inherited, dominantly transmitted, neurodegenerative disorder. It is caused by increased CAG repeats number in the gene coding for huntingtin (Htt) and characterized by motor, behaviour and psychiatric symptoms, ultimately leading to death. HD patients also exhibit alterations in glucose and energetic metabolism, which result in pronounced weight loss despite sustained calorie intake. Glucose metabolism decreases in the striatum of all the subjects with mutated Htt, but affects symptom presentation only when it drops below a specific threshold...
April 10, 2017: Amino Acids
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