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https://www.readbyqxmd.com/read/28194004/genetic-contributions-to-self-reported-tiredness
#1
V Deary, S P Hagenaars, S E Harris, W D Hill, G Davies, D C M Liewald, A M McIntosh, C R Gale, I J Deary
Self-reported tiredness and low energy, often called fatigue, are associated with poorer physical and mental health. Twin studies have indicated that this has a heritability between 6 and 50%. In the UK Biobank sample (N=108 976), we carried out a genome-wide association study (GWAS) of responses to the question, 'Over the last two weeks, how often have you felt tired or had little energy?' Univariate GCTA-GREML found that the proportion of variance explained by all common single-nucleotide polymorphisms for this tiredness question was 8...
February 14, 2017: Molecular 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
#2
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/28193882/neuronal-hyperexcitability-in-a-mouse-model-of-scn8a-epileptic-encephalopathy
#3
Luis F Lopez-Santiago, Yukun Yuan, Jacy L Wagnon, Jacob M Hull, Chad R Frasier, Heather A O'Malley, Miriam H Meisler, Lori L Isom
Patients with early infantile epileptic encephalopathy (EIEE) experience severe seizures and cognitive impairment and are at increased risk for sudden unexpected death in epilepsy (SUDEP). EIEE13 [Online Mendelian Inheritance in Man (OMIM) # 614558] is caused by de novo missense mutations in the voltage-gated sodium channel gene SCN8A Here, we investigated the neuronal phenotype of a mouse model expressing the gain-of-function SCN8A patient mutation, p.Asn1768Asp (Nav1.6-N1768D). Our results revealed regional and neuronal subtype specificity in the effects of the N1768D mutation...
February 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28186315/sleep-study-in-disruptive-mood-dysregulation-disorder-and-bipolar-children
#4
Xavier Estrada-Prat, Ion Álvarez-Guerrico, María J Bleda-Hernández, Ester Camprodon-Rosanas, Santiago Batlle-Vila, Elena Pujals-Altes, María T Nascimento-Osorio, Luís M Martín-López, Enric Álvarez-Martínez, Víctor Pérez-Solá, Soledad Romero-Cela
INTRODUCTION: Decreased need for sleep has been proposed as a core symptom of mania and it has been associated with the pathogenesis of Bipolar Disorder. The emergence of Disruptive Mood Dysregulation Disorder (DMDD) as a new diagnostic has been controversial and much has been speculated about its relationship with the bipolar spectrum. REM sleep fragmentation could be a biomarker of affective disorders and it would help us to differentiate them from other disorders. METHOD: Polysomnographic cross-sectional study of children with DMDD, bipolar disorder and Attention Deficit Hyperactivity Disorder (ADHD)...
January 2017: Actas Españolas de Psiquiatría
https://www.readbyqxmd.com/read/28160035/brexpiprazole-reduces-hyperactivity-impulsivity-and-risk-preference-behavior-in-mice-with-dopamine-transporter-knockdown-a-model-of-mania
#5
Morgane Milienne-Petiot, Mark A Geyer, Jørn Arnt, Jared W Young
RATIONALE: Bipolar disorder (BD) is a unique mood disorder defined by periods of depression and mania. The defining diagnosis of BD is the presence of mania/hypomania, with symptoms including hyperactivity and risk-taking. Since current treatments do not ameliorate cognitive deficits such as risky decision-making, and impulsivity that can negatively affect a patient's quality of life, better treatments are needed. OBJECTIVES: Here, we tested whether acute treatment with brexpiprazole, a serotonin-dopamine activity modulator with partial agonist activity at D2/3 and 5-HT1A receptors, would attenuate the BD mania-relevant behaviors of the dopamine transporter (DAT) knockdown mouse model of mania...
February 3, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/28157551/the-predictive-value-of-childhood-subthreshold-manic-symptoms-for-adolescent-and-adult-psychiatric-outcomes
#6
Efstathios Papachristou, Albertine J Oldehinkel, Johan Ormel, Dennis Raven, Catharina A Hartman, Sophia Frangou, Abraham Reichenberg
BACKGROUND: Childhood subthreshold manic symptoms may represent a state of developmental vulnerability to Bipolar Disorder (BD) and may also be associated with other adverse psychiatric outcomes. To test this hypothesis we examined the structure and predictive value of childhood subthreshold manic symptoms for common psychiatric disorders presenting by early adulthood. METHODS: Subthreshold manic symptoms at age 11 years and lifetime clinical outcomes by age 19 years were ascertained in the TRacking Adolescents' Individual Lives Survey (TRAILS), a prospective Dutch community cohort...
January 24, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28138157/forebrain-specific-ablation-of-phospholipase-c%C3%AE-1-causes-manic-like-behavior
#7
Y R Yang, J H Jung, S-J Kim, K Hamada, A Suzuki, H J Kim, J H Lee, O-B Kwon, Y K Lee, J Kim, E-K Kim, H-J Jang, D-S Kang, J-S Choi, C J Lee, J Marshall, H-Y Koh, C-J Kim, H Seok, S H Kim, J H Choi, Y-B Choi, L Cocco, S H Ryu, J-H Kim, P-G Suh
Manic episodes are one of the major diagnostic symptoms in a spectrum of neuropsychiatric disorders that include schizophrenia, obsessive-compulsive disorder and bipolar disorder (BD). Despite a possible association between BD and the gene encoding phospholipase Cγ1 (PLCG1), its etiological basis remains unclear. Here, we report that mice lacking phospholipase Cγ1 (PLCγ1) in the forebrain (Plcg1(f/f); CaMKII) exhibit hyperactivity, decreased anxiety-like behavior, reduced depressive-related behavior, hyperhedonia, hyperphagia, impaired learning and memory and exaggerated startle responses...
January 31, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28109204/aquaspirillum-soli-sp-nov-isolated-from-a-soil-sample-in-the-people-s-republic-of-china
#8
Gabriela Moya, Huan Trinh, Zheng-Fei Yan, KyungHwa Won, Jung-Eun Yang, Qi-Jun Wang, MooChang Kook, Tae-Hoo Yi
A Gram-stain-negative, smooth, opaque, white pigmented, helical-shaped and motile bacterium by means of bipolar tufts of flagella, catalase- and oxidase-positive, grew under microaerophilic conditions, was isolated from soil sample of a reed pond in Shangqiu, Henan province, P. R. China. The strain named THG-SQE6T grows well at 25-42 oC, pH 6.5-7.5 and in the presence of 0-1 % (w/v) NaCl. The phylogenetic analysis based on 16S rRNA gene sequence showed that the strain THG-SQE6T was most closely related to Aquaspirillum serpens IAM 13944T (97...
January 19, 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28070120/the-protocadherin-17-gene-affects-cognition-personality-amygdala-structure-and-function-synapse-development-and-risk-of-major-mood-disorders
#9
H Chang, N Hoshina, C Zhang, Y Ma, H Cao, Y Wang, D-D Wu, S E Bergen, M Landén, C M Hultman, M Preisig, Z Kutalik, E Castelao, M Grigoroiu-Serbanescu, A J Forstner, J Strohmaier, J Hecker, T G Schulze, B Müller-Myhsok, A Reif, P B Mitchell, N G Martin, P R Schofield, S Cichon, M M Nöthen, H Walter, S Erk, A Heinz, N Amin, C M van Duijn, A Meyer-Lindenberg, H Tost, X Xiao, T Yamamoto, M Rietschel, M Li
Major mood disorders, which primarily include bipolar disorder and major depressive disorder, are the leading cause of disability worldwide and pose a major challenge in identifying robust risk genes. Here, we present data from independent large-scale clinical data sets (including 29 557 cases and 32 056 controls) revealing brain expressed protocadherin 17 (PCDH17) as a susceptibility gene for major mood disorders. Single-nucleotide polymorphisms (SNPs) spanning the PCDH17 region are significantly associated with major mood disorders; subjects carrying the risk allele showed impaired cognitive abilities, increased vulnerable personality features, decreased amygdala volume and altered amygdala function as compared with non-carriers...
January 10, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28063395/differences-in-social-functioning-among-patients-with-major-psychiatric-disorders-interpersonal-communication-is-impaired-in-patients-with-schizophrenia-and-correlates-with-an-increase-in-schizotypal-traits
#10
Toshiki Yasuyama, Kazutaka Ohi, Takamitsu Shimada, Takashi Uehara, Yasuhiro Kawasaki
Impaired social functioning is a hallmark of major psychiatric disorders. The purpose of this study was to detect a disorder-specific factor of social dysfunction among patients with major psychiatric disorders (PSY), including schizophrenia (SCZ), bipolar disorder (BIP) and major depressive disorder (MDD). Social functioning was assessed in patients with SCZ (n=80), BIP (n=27) or MDD (n=29) and healthy controls (HC, n=68) using the Social Functioning Scale (SFS). Compared to HC, the SCZ, BIP and MDD patient groups showed lower total SFS scores...
December 31, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/28057878/pseudoautosomal-abnormalities-in-terminal-azfb-c-deletions-are-associated-with-isochromosomes-yp-and-may-lead-to-abnormal-growth-and-neuropsychiatric-function
#11
A Castro, F Rodríguez, M Flórez, P López, B Curotto, D Martínez, A Maturana, M C Lardone, C Palma, V Mericq, M Ebensperger, F Cassorla
STUDY QUESTION: Are copy number variations (CNVs) in the pseudoautosomal regions (PARs) frequent in subjects with Y-chromosome microdeletions and can they lead to abnormal stature and/or neuropsychiatric disorders? SUMMARY ANSWER: Only subjects diagnosed with azoospermia factor (AZF)b+c deletions spanning to the end of the Y chromosome (i.e. terminal deletions) harbor Y isochromosomes and/or cells 45,X that lead to pseudoautosomal gene CNVs, which were associated with abnormal stature and/or neuropsychiatric disorders...
January 5, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28045139/chrna7-deficient-mice-manifest-no-consistent-neuropsychiatric-and-behavioral-phenotypes
#12
Jiani Yin, Wu Chen, Hongxing Yang, Mingshan Xue, Christian P Schaaf
The alpha7 nicotinic acetylcholine receptor, encoded by the CHRNA7 gene, has been implicated in various psychiatric and behavioral disorders, including schizophrenia, bipolar disorder, epilepsy, autism, Alzheimer's disease, and Parkinson's disease, and is considered a potential target for therapeutic intervention. 15q13.3 microdeletion syndrome is a rare genetic disorder, caused by submicroscopic deletions on chromosome 15q. CHRNA7 is the only gene in this locus that has been deleted entirely in cases involving the smallest microdeletions...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28044944/a-pragmatic-approach-to-the-diagnosis-and-treatment-of-mixed-features-in-adults-with-mood-disorders
#13
Roger S McIntyre, Yena Lee, Rodrigo B Mansur
Mixed features specifier (MFS) is a new nosological entity defined and operationalized in the Diagnostic and Statistical Manual of Mental Disorders (DSM), 5th Edition. The impetus to introduce the MFS and supplant mixed states was protean, including the lack of ecological validity, high rates of misdiagnosis, and guideline discordant treatment for mixed states. Mixed features specifier identifies a phenotype in psychiatry with greater illness burden, as evidenced by earlier age at onset, higher episode frequency and chronicity, psychiatric and medical comorbidity, suicidality, and suboptimal response to conventional antidepressants...
December 2016: CNS Spectrums
https://www.readbyqxmd.com/read/28042091/novel-pde10a-transcript-diversity-in-the-human-striatum-insights-into-gene-complexity-conservation-and-regulation
#14
Courtney M MacMullen, Mohammad Fallahi, Ronald L Davis
PDE10A is a cAMP/cGMP phosphodiesterase important in signal transduction within medium spiny neurons of the human striatum. This gene region has been associated with bipolar disorder via case-control and linkage studies. The three most studied human PDE10A isoforms differ in both their N-termini and trafficking within the cell with PDE10A2 found predominantly at the plasma membrane and PDE10A1 and PDE10A19 remaining primarily within the cytosol. RNA-sequencing and 5' RLM-RACE studies of the human putamen and caudate nucleus revealed 16 new exons and 12 novel transcripts of PDE10A, 3 of which are predicted to produce proteins with unique N-termini...
March 30, 2017: Gene
https://www.readbyqxmd.com/read/28002634/fkbp5-polymorphisms-influence-pre-learning-stress-induced-alterations-of-learning-and-memory
#15
Phillip R Zoladz, Alison M Dailey, Hannah E Nagle, Miranda K Fiely, Brianne E Mosley, Callie M Brown, Tessa J Duffy, Amanda R Scharf, McKenna B Earley, Boyd R Rorabaugh
FK506 binding protein 51(FKBP5) is a co-chaperone of heat shock protein 90 and significantly influences glucocorticoid receptor sensitivity. Single nucleotide polymorphisms (SNPs) in the FKBP5 gene are associated with altered hypothalamus-pituitary-adrenal (HPA) axis function, changes in the structure and function of several cognitive brain areas, and increased susceptibility to post-traumatic stress disorder, major depression, bipolar disorder, and suicidal events. The mechanisms underlying these associations are largely unknown, but it has been speculated that the influence of these SNPs on emotional memory systems may play a role...
December 21, 2016: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27956739/ankyrin-g-isoform-imbalance-and-interneuronopathy-link-epilepsy-and-bipolar-disorder
#16
A Y Lopez, X Wang, M Xu, A Maheshwari, D Curry, S Lam, A M Adesina, J L Noebels, Q-Q Sun, E C Cooper
ANK3, encoding the adaptor protein Ankyrin-G (AnkG), has been implicated in bipolar disorder by genome-wide association studies. ANK3 has multiple alternative first exons, and a bipolar disorder-associated ANK3 variant has been shown to reduce the expression of exon 1b. Here we identify mechanisms through which reduced ANK3 exon 1b isoform expression disrupts neuronal excitation-inhibition balance. We find that parvalbumin (PV) interneurons and principal cells differentially express ANK3 first exon subtypes...
December 13, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27924149/differences-in-real-world-executive-function-between-children-with-pediatric-bipolar-disorder-and-children-with-adhd
#17
Alessandra M Passarotti, Nidhi Trivedi, Liza Dominguez-Colman, Manharkumar Patel, Scott A Langenecker
BACKGROUND: Recent research evidence suggests that executive function (EF) is impaired in both pediatric bipolar disorder (PBD) and attention deficit-hyperactivity disorder (ADHD), although the underlying cognitive mechanisms are still unclear. In this study we examined EF, including cognitive and emotional control, in three pediatric groups with overlapping symptoms. METHODS: Sixteen children and adolescents with PBD, 17 children and adolescents with ADHD, Type Combined, and 13 children and adolescents with PBD and comorbid ADHD (PBD+ADHD) (mean age=12...
2016: Journal of the Canadian Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/27922594/cacna1c-in-the-prefrontal-cortex-regulates-depression-related-behaviors-via-redd1
#18
Zeeba D Kabir, Anni S Lee, Caitlin E Burgdorf, Delaney Fischer, Aditi M Rajadhyaksha, Ethan Mok, Bryant Rizzo, Richard C Rice, Kamalpreet Singh, Kristie T Ota, Danielle M Gerhard, Kathryn C Schierberl, Michael Glass, Ronald S Duman, Anjali M Rajadhyaksha
The CACNA1C gene that encodes the L-type Ca(2+) channel (LTCC) Cav1.2 subunit has emerged as a candidate risk gene for multiple neuropsychiatric disorders including bipolar disorder, major depressive disorder and schizophrenia, all marked with depression-related symptoms. Although cacna1c heterozygous (HET) mice have been previously reported to exhibit an antidepressant-like phenotype, the molecular and circuit-level dysfunction remains unknown. Here we report that viral vector-mediated deletion of cacna1c in the adult prefrontal cortex (PFC) of mice recapitulates the antidepressant-like effect observed in cacna1c HET mice using the sucrose preference test (SPT), the forced swim test (FST), and the tail suspension test (TST)...
December 6, 2016: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/27920536/evaluation-of-potential-novel-variations-and-their-interactions-related-to-bipolar-disorders-analysis-of-genome-wide-association-study-data
#19
Cengizhan Acikel, Yesim Aydin Son, Cemil Celik, Husamettin Gul
BACKGROUND: Multifactor dimensionality reduction (MDR) is a nonparametric approach that can be used to detect relevant interactions between single-nucleotide polymorphisms (SNPs). The aim of this study was to build the best genomic model based on SNP associations and to identify candidate polymorphisms that are the underlying molecular basis of the bipolar disorders. METHODS: This study was performed on Whole-Genome Association Study of Bipolar Disorder (dbGaP [database of Genotypes and Phenotypes] study accession number: phs000017...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27914246/tract-based-analysis-of-white-matter-integrity-in-psychotic-and-nonpsychotic-bipolar-disorder
#20
Andrew Ji, Douglass Godwin, Jerrel Rutlin, Sridhar Kandala, Joshua S Shimony, Daniel Mamah
BACKGROUND: At least 50% of individuals with bipolar disorder (BD) present with psychosis during their lifetime. Psychotic symptoms have sometimes been linked to specific genetic and phenotypic markers. This study aims to explore potential differences between bipolar disorder subtypes by measuring white matter integrity of the brain and relationships with clinical measures. METHODS: Diffusion tensor imaging and clinical measures were acquired from 102 participants, grouped as psychotic bipolar disorder (PBD) (n=48), non-psychotic bipolar disorder (NBD) (n=24), and healthy controls (n=30)...
February 2017: Journal of Affective Disorders
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