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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
December 29, 2016: Gene
https://www.readbyqxmd.com/read/28002634/fkbp5-polymorphisms-influence-pre-learning-stress-induced-alterations-of-learning-and-memory
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27902448/rasgrp1-promotes-amphetamine-induced-motor-behavior-through-a-rhes-interaction-network-rhesactome-in-the-striatum
#13
Neelam Shahani, Supriya Swarnkar, Vincenzo Giovinazzo, Jenny Morgenweck, Laura M Bohn, Catherina Scharager-Tapia, Bruce Pascal, Pablo Martinez-Acedo, Kshitij Khare, Srinivasa Subramaniam
The striatum of the brain coordinates motor function. Dopamine-related drugs may be therapeutic to patients with striatal neurodegeneration, such as Huntington's disease (HD) and Parkinson's disease (PD), but these drugs have unwanted side effects. In addition to stimulating the release of norepinephrine, amphetamines, which are used for narcolepsy and attention-deficit/hyperactivity disorder (ADHD), trigger dopamine release in the striatum. The guanosine triphosphatase Ras homolog enriched in the striatum (Rhes) inhibits dopaminergic signaling in the striatum, is implicated in HD and L-dopa-induced dyskinesia, and has a role in striatal motor control...
November 15, 2016: Science Signaling
https://www.readbyqxmd.com/read/27902230/roseitalea-porphyridii-gen-nov-sp-nov-isolated-from-a-red-alga-and-reclassification-of-hoeflea-suaedae-chung-et-al-2013-as-pseudohoeflea-suaedae-gen-nov-comb-nov
#14
Jong Woo Hyeon, Sang Eun Jeong, Kyunghwa Baek, Che Ok Jeon
A Gram-staining-negative, strictly aerobic bacterial strain, designated MA7-20T, was isolated from a marine alga, Porphyridium marinum, in Korea. Cells showing oxidase-positive and catalase-positive activities were motile rods with bipolar flagella. Growth of strain MA7-20T was observed at 15-45 C (optimum, 30-37 C), at pH 6.0-10.5 (optimum, pH 7.0-8.0) and in the presence of 0-7 % (w/v) NaCl (optimum, 2-3 %). Strain MA7-20T contained summed feature 8 (comprising C18:1 ω7c/C18:1 ω6c) and 11-methyl-C18:1 ω7c and C18:0 as the major fatty acids and ubiquinone-10 as the sole isoprenoid quinone...
November 2, 2016: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/27888723/deconstructing-bipolar-disorder-and-schizophrenia-a-cross-diagnostic-cluster-analysis-of-cognitive-phenotypes
#15
Junghee Lee, Shemra Rizzo, Lori Altshuler, David C Glahn, David J Miklowitz, Catherine A Sugar, Jonathan K Wynn, Michael F Green
BACKGROUND: Bipolar disorder (BD) and schizophrenia (SZ) show substantial overlap. It has been suggested that a subgroup of patients might contribute to these overlapping features. This study employed a cross-diagnostic cluster analysis to identify subgroups of individuals with shared cognitive phenotypes. METHOD: 143 participants (68 BD patients, 39 SZ patients and 36 healthy controls) completed a battery of EEG and performance assessments on perception, nonsocial cognition and social cognition...
February 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27882644/sleep-wake-cycle-phenotypes-in-young-people-with-familial-and-non-familial-mood-disorders
#16
Jan Scott, Sharon Naismith, Ashlee Grierson, Joanne Carpenter, Daniel Hermens, Elizabeth Scott, Ian Hickie
OBJECTIVES: Converging evidence identifies that the offspring of parents with bipolar disorder (BD), individuals at clinical high risk of BD, and young people with recent onset BD may differ from other clinical cases or healthy controls in terms of sleep-wake profiles. However, it is possible that these differences may reflect current mental state, subtype of mood disorder, or familial traits. This study aimed to determine objective and subjective sleep-wake profiles in individuals aged 15-25 years with a current major depressive episode, in relation to familial traits...
December 2016: Bipolar Disorders
https://www.readbyqxmd.com/read/27873559/educational-achievement-in-psychiatric-patients-and-their-siblings-a-register-based-study-in-30-000-individuals-in-the-netherlands
#17
W M Tempelaar, F Termorshuizen, J H MacCabe, M P M Boks, R S Kahn
BACKGROUND: Poor educational achievement is associated with a range of psychiatric disorders. Several studies suggest that this underperformance is due to cognitive deficits that commence before disease onset and reflect a genetic risk for this disorder. However, the specificity and the familial contribution of this cognitive deficit are not clear. We analysed lifetime educational achievement of psychiatric patients diagnosed with schizophrenia, bipolar or depressive disorder and their unaffected siblings...
November 22, 2016: Psychological Medicine
https://www.readbyqxmd.com/read/27872267/endophenotypes-epigenetics-polygenicity-and-more-irv-gottesman-s-dynamic-legacy
#18
David L Braff, Carol A Tamminga
First, we describe the hallmark contributions of Irv Gottesman's pioneering scholarship for schizophrenia research including concepts of polygenicity, gene × environment interactions, epigenetics and the endophenotype concept. Gottesman and colleagues' twin studies showed that genes, not social factors, mediate schizophrenia risk. He then showed that schizophrenia is highly polygenic. Next, he introduced the concept of epigenetics into schizophrenia research. Gottesman then introduced the quantitative endophenotype concept...
January 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/27845777/newer-insights-into-the-role-of-mirna-a-tiny-genetic-tool-in-psychiatric-disorders-focus-on-post-traumatic-stress-disorder
#19
REVIEW
V V Giridharan, R A Thandavarayan, G R Fries, C Walss-Bass, T Barichello, N J Justice, M K Reddy, J Quevedo
Post-traumatic stress disorder (PTSD) is a mental disorder occurring in about 2-9% of individuals after their exposure to life-threatening events, such as severe accidents, sexual abuse, combat or a natural catastrophe. Because PTSD patients are exposed to trauma, it is likely that epigenetic modifications have an important role in disease development and prognosis. For the past two decades, abnormal expression of the epigenetic regulators microRNAs (miRs) and miR-mediated gene regulation have been given importance in a variety of human diseases, such as cancer, heart disease and viral infection...
November 15, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27844061/lithium-responsive-seizure-like-hyperexcitability-is-caused-by-a-mutation-in-the-drosophila-voltage-gated-sodium-channel-gene-paralytic
#20
Garrett A Kaas, Junko Kasuya, Patrick Lansdon, Atsushi Ueda, Atulya Iyengar, Chun-Fang Wu, Toshihiro Kitamoto
Shudderer (Shu) is an X-linked dominant mutation in Drosophila melanogaster identified more than 40 years ago. A previous study showed that Shu caused spontaneous tremors and defects in reactive climbing behavior, and that these phenotypes were significantly suppressed when mutants were fed food containing lithium, a mood stabilizer used in the treatment of bipolar disorder (Williamson, 1982). This unique observation suggested that the Shu mutation affects genes involved in lithium-responsive neurobiological processes...
September 2016: ENeuro
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