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https://www.readbyqxmd.com/read/29317602/genome-wide-meta-analyses-of-stratified-depression-in-generation-scotland-and-uk-biobank
#1
Lynsey S Hall, Mark J Adams, Aleix Arnau-Soler, Toni-Kim Clarke, David M Howard, Yanni Zeng, Gail Davies, Saskia P Hagenaars, Ana Maria Fernandez-Pujals, Jude Gibson, Eleanor M Wigmore, Thibaud S Boutin, Caroline Hayward, Generation Scotland, David J Porteous, Ian J Deary, Pippa A Thomson, Chris S Haley, Andrew M McIntosh
Few replicable genetic associations for Major Depressive Disorder (MDD) have been identified. Recent studies of MDD have identified common risk variants by using a broader phenotype definition in very large samples, or by reducing phenotypic and ancestral heterogeneity. We sought to ascertain whether it is more informative to maximize the sample size using data from all available cases and controls, or to use a sex or recurrent stratified subset of affected individuals. To test this, we compared heritability estimates, genetic correlation with other traits, variance explained by MDD polygenic score, and variants identified by genome-wide meta-analysis for broad and narrow MDD classifications in two large British cohorts - Generation Scotland and UK Biobank...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29317193/an-essential-role-for-neuregulin-4-in-the-growth-and-elaboration-of-developing-neocortical-pyramidal-dendrites
#2
Blanca Paramo, Sean Wyatt, Alun M Davies
Neuregulins, with the exception of neuregulin-4 (NRG4), have been shown to be extensively involved in many aspects of neural development and function and are implicated in several neurological disorders, including schizophrenia, depression and bipolar disorder. Here we provide the first evidence that NRG4 has a crucial function in the developing brain. We show that both the apical and basal dendrites of neocortical pyramidal neurons are markedly stunted in Nrg4-/- neonates in vivo compared with Nrg4+/+ littermates...
January 6, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29282022/chromosomal-instability-induced-by-increased-birc5-survivin-levels-affects-tumorigenicity-of-glioma-cells
#3
Marina Conde, Susanne Michen, Ralf Wiedemuth, Barbara Klink, Evelin Schröck, Gabriele Schackert, Achim Temme
BACKGROUND: Survivin, belonging to the inhibitor of apoptosis (IAP) gene family, is abundantly expressed in tumors. It has been hypothesized that Survivin facilitates carcinogenesis by inhibition of apoptosis resulting in improved survival of tumorigenic progeny. Additionally, Survivin plays an essential role during mitosis. Together with its molecular partners Aurora B, Borealin and inner centromere protein it secures bipolar chromosome segregation. However, whether increased Survivin levels contribute to progression of tumors by inducing chromosomal instability remains unclear...
December 28, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29242796/bilateral-femoral-neck-fractures-in-cerebrotendinous-xanthomatosis-treated-by-hip-arthroplasties-the-first-case-report-and-literature-review
#4
Witchuree Wejjakul, Swist Chatmaitri, Thongek Wattanarojanaporn, Anuwat Pongkunakorn, Chupong Ittiwut, Vorasuk Shotelersuk
Introduction: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by mutations of the CYP27A1 gene and deficiency of the sterol-27-hydroxylase enzyme in bile acid biosynthesis. It is characterized by the accumulation of cholestanol and bile alcohols in plasma, the formation of xanthomatous lesions in various tissues, and organ degeneration. This disorder is also associated with osteoporosis and increased risk of fracture. To date, only two CTX patients with femoral neck fractures have been reported...
September 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29227034/the-clinical-course-of-late-life-bipolar-disorder-looking-back-and-forward
#5
Annemiek Dols, Nicole Korten, Hannie Comijs, Sigfried Schouws, Moniek van Dijk, Ursula Klumpers, Aartjan Beekman, Ralph Kupka, Max Stek
OBJECTIVES: Little is known about the course of late-life bipolar disorder (LLBD). First, we studied patients with LLBD retrospectively with regard to age at first mood episode, onset polarity, predominant polarity and episode density and its associations with other clinical variables. Next, we examined prospectively the clinical course and its associated factors. METHODS: Data were used from a dynamic cohort (Dutch Older Bipolars [DOBi]) including 101 patients with LLBD (mean age of 68...
December 11, 2017: Bipolar Disorders
https://www.readbyqxmd.com/read/29187746/genome-wide-haplotype-based-association-analysis-of-major-depressive-disorder-in-generation-scotland-and-uk-biobank
#6
David M Howard, Lynsey S Hall, Jonathan D Hafferty, Yanni Zeng, Mark J Adams, Toni-Kim Clarke, David J Porteous, Reka Nagy, Caroline Hayward, Blair H Smith, Alison D Murray, Niamh M Ryan, Kathryn L Evans, Chris S Haley, Ian J Deary, Pippa A Thomson, Andrew M McIntosh
Genome-wide association studies using genotype data have had limited success in the identification of variants associated with major depressive disorder (MDD). Haplotype data provide an alternative method for detecting associations between variants in weak linkage disequilibrium with genotyped variants and a given trait of interest. A genome-wide haplotype association study for MDD was undertaken utilising a family-based population cohort, Generation Scotland: Scottish Family Health Study (n = 18,773), as a discovery cohort with UK Biobank used as a population-based replication cohort (n = 25,035)...
November 30, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/29179637/cone-dystrophy-and-ectopic-synaptogenesis-in-a-cacna1f-loss-of-function-model-of-congenital-stationary-night-blindness-csnb2a
#7
D M Waldner, N C Giraldo Sierra, S Bonfield, L Nguyen, I S Dimopoulos, Y Sauvé, W K Stell, N T Bech-Hansen
Congenital stationary night blindness 2A (CSNB2A) is an X-linked retinal disorder, characterized by phenotypically variable signs and symptoms of impaired vision. CSNB2A is due to mutations in CACNA1F, which codes for the pore-forming α1F subunit of a L-type voltage-gated calcium channel, Cav1.4. Mouse models of CSNB2A, used for characterizing the effects of various Cacna1f mutations, have revealed greater severity of defects than in human CSNB2A. Specifically, Cacna1f-knockout mice show an apparent lack of visual function, gradual retinal degeneration, and disruption of photoreceptor synaptic terminals...
November 28, 2017: Channels
https://www.readbyqxmd.com/read/29177904/characteristics-of-trophoblasts-in-long-term-culture
#8
T D Kolokol'tsova, I N Saburina, T N Nanovskaya, S L Patrikeeva, D I Vernikovskaya, I M Zurina, A A Gorkun, N V Kosheleva, R A Poltavtseva, G T Sukhikh
We analyzed more than 40 cytotrophoblast cultures derived from cell islets that grew from trypsinized tissue fragments of placental microvilli. Phenotypic variability of trophoblasts was demonstrated. Changes in trophoblast morphology from epithelium-like or oval cells to bipolar and spindle-shaped or twisted and then to mesenchymal-like cells as well as intensive expression of cytokeratin-7 and vimentin attested to epithelial-mesenchymal transition of trophoblasts during in vitro culturing. Analysis of the expression of specific markers in long-term trophoblast culture (≥7 passages) revealed the possibility of culture contamination with other non-trophoblast cells including fibroblasts...
November 25, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29173599/bipolar-disorder-and-the-vascular-system-mechanisms-and-new-prevention-opportunities
#9
REVIEW
Benjamin I Goldstein
Bipolar disorder (BD) is associated with excessive prevalence and premature onset of cardiovascular disease (CVD). This association is observed internationally in clinical as well as predominantly untreated epidemiologic samples. A number of factors might explain this association in part, including excessive rates of traditional cardiovascular risk factors (CVRFs), suboptimal lifestyle behaviour s relating to physical activity, nutrition, and use of alcohol, tobacco, and drugs, and the use of psychiatric medications with propensity for causing CVRFs...
December 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29169634/the-emerging-neurobiology-of-bipolar-disorder
#10
REVIEW
Paul J Harrison, John R Geddes, Elizabeth M Tunbridge
Bipolar disorder (BD) is a leading cause of global disability. Its biological basis is unknown, and its treatment unsatisfactory. Here, we review two recent areas of progress. First, the discovery of risk genes and their implications, with a focus on voltage-gated calcium channels as part of the disease process and as a drug target. Second, facilitated by new technologies, it is increasingly apparent that the bipolar phenotype is more complex and nuanced than simply one of recurring manic and depressive episodes...
November 20, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/29167880/association-between-schizophrenia-related-polygenic-liability-and-the-occurrence-and-level-of-mood-incongruent-psychotic-symptoms-in-bipolar-disorder
#11
Judith Allardyce, Ganna Leonenko, Marian Hamshere, Antonio F Pardiñas, Liz Forty, Sarah Knott, Katherine Gordon-Smith, David J Porteous, Caroline Haywood, Arianna Di Florio, Lisa Jones, Andrew M McIntosh, Michael J Owen, Peter Holmans, James T R Walters, Nicholas Craddock, Ian Jones, Michael C O'Donovan, Valentina Escott-Price
Importance: Bipolar disorder (BD) overlaps schizophrenia in its clinical presentation and genetic liability. Alternative approaches to patient stratification beyond current diagnostic categories are needed to understand the underlying disease processes and mechanisms. Objective: To investigate the association between common-variant liability for schizophrenia, indexed by polygenic risk scores (PRSs), and psychotic presentations of BD. Design, Setting, and Participants: This case-control study in the United Kingdom used multinomial logistic regression to estimate differential PRS associations across categories of cases and controls...
November 22, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/29167352/two-spatially-distinct-kinesin-14-pkl1-and-klp2-generate-collaborative-inward-forces-against-kinesin-5-cut7-in-s-pombe
#12
Masashi Yukawa, Yusuke Yamada, Tomoaki Yamauchi, Takashi Toda
Kinesin motors play central roles in bipolar spindle assembly. In many eukaryotes, spindle pole separation is driven by Kinesin-5 that generates outward force. This outward force is balanced by antagonistic inward force elicited by Kinesin-14 and/or Dynein. In fission yeast, two Kinesin-14s, Pkl1 and Klp2, play an opposing role against Kinesin-5/Cut7. However, how these two Kinesin-14s coordinate individual activities remains elusive. Here we show that while deletion of either pkl1 or klp2 rescues temperature sensitive cut7 mutants, only pkl1 deletion can bypass the lethality caused by cut7 deletion...
November 22, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/29164495/the-clinical-trajectory-of-emerging-bipolar-disorder-among-the-high-risk-offspring-of-bipolar-parents-current-understanding-and-future-considerations
#13
REVIEW
A Duffy, C Vandeleur, N Heffer, M Preisig
BACKGROUND: Relatively little is known about the onset of bipolar disorder, yet the early illness course is already associated with significant morbidity and mortality. Therefore, characterizing the bipolar illness trajectory is key to risk prediction and early intervention advancement. MAIN BODY: In this narrative review, we discuss key findings from prospective longitudinal studies of the high-risk offspring of bipolar parents and related meta-analyses that inform us about the clinical trajectory of emerging bipolar disorder...
November 22, 2017: International Journal of Bipolar Disorders
https://www.readbyqxmd.com/read/29154903/in-vitro-mesenchymal-epithelial-transition-in-nih3t3-fibroblasts-results-in-onset-of-low-dose-radiation-hypersensitivity-coupled-with-attenuated-connexin-43-response
#14
Ankit Mathur, Ashish Kumar, Bincy Babu, Sudhir Chandna
BACKGROUND: Mesenchymal-to-epithelial transition (MET) is associated with altered cell adhesion patterns. Independent studies showed that cellular adhesion regulates low-dose hyper-radiosensitivity (HRS), a phenomenon reported widely in tumour cells. Therefore, present study aimed to investigate whether MET and associated cellular adhesion alterations affect cellular radiosensitivity. METHODS: We established multiple stages of MET by in vitro transformation of NIH3T3 mouse embryonic fibroblasts...
November 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29139167/the-zinc-finger-gene-nolz1-regulates-the-formation-of-retinal-progenitor-cells-and-suppresses-the-lim3-lhx3-phenotype-of-retinal-bipolar-cells-in-chicken-retina
#15
Maria K E Blixt, Dardan Konjusha, Henrik Ring, Finn Hallböök
BACKGROUND: The zinc-finger transcription factor Nolz1 regulates spinal cord neuron development by interacting with the transcription factors Isl1, Lim1 and Lim3, which are also important for photoreceptors, horizontal and bipolar cells during retinal development. We therefore studied Nolz1 during retinal development. RESULTS: Nolz1 expression was seen in two waves during development: one early (peak at embryonic day 3-4.5) in retinal progenitors and one late (embryonic day 8) in newly differentiated cells in the inner nuclear layer...
November 15, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/29129507/the-use-of-polygenic-risk-scores-to-identify-phenotypes-associated-with-genetic-risk-of-schizophrenia-systematic-review
#16
REVIEW
Sumit Mistry, Judith R Harrison, Daniel J Smith, Valentina Escott-Price, Stanley Zammit
Studying the phenotypic manifestations of increased genetic liability for schizophrenia can increase our understanding of this disorder. Specifically, information from alleles identified in genome-wide association studies can be collapsed into a polygenic risk score (PRS) to explore how genetic risk is manifest within different samples. In this systematic review, we provide a comprehensive assessment of studies examining associations between schizophrenia PRS (SZ-PRS) and several phenotypic measures. We searched EMBASE, Medline and PsycINFO (from August 2009-14th March 2016) plus references of included studies, following PRISMA guidelines...
November 9, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/29112195/face-and-predictive-validity-of-the-clock%C3%AE-19-mouse-as-an-animal-model-for-bipolar-disorder-a-systematic-review
#17
REVIEW
M Kristensen, A A Nierenberg, S D Østergaard
Mice carrying the circadian locomotor output cycles Kaput delta 19 N-ethyl-N-nitrosoure (ENU) mutation (ClockΔ19) are used as an animal model for bipolar disorder (BD). We aimed to systematically review the face validity (phenotypical and pathophysiological resemblance with BD) and predictive validity (responsiveness to treatments used in BD) of this model in adherence with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. We carried out a systematic search of the databases PubMed and Embase, combining search terms covering BD and ClockΔ19...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29106556/location-matters-distinct-dna-methylation-patterns-in-gabaergic-interneuronal-populations-from-separate-microcircuits-within-the-human-hippocampus
#18
W Brad Ruzicka, Sivan Subburaju, Joseph T Coyle, Francine M Benes
Recent studies describe distinct DNA methylomes among phenotypic subclasses of neurons in the human brain, but variation in DNA methylation between common neuronal phenotypes distinguished by their function within distinct neural circuits remains an unexplored concept. Studies able to resolve epigenetic profiles at the level of microcircuits are needed to illuminate chromatin dynamics in the regulation of specific neuronal populations and circuits mediating normal and abnormal behaviors.The Illumina HumanMethylation450 BeadChip was used to assess genome-wide DNA methylation in stratum oriens GABAergic interneurons sampled by laser-microdissection from two discrete microcircuits along the trisynaptic pathway in postmortem human hippocampus from eight control, eight schizophrenia, and eight bipolar disorder subjects...
November 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29101875/dissecting-disease-entities-out-of-the-broad-spectrum-of-bipolar-disorders
#19
Joseph Levine, Lilach Toker, Galila Agam
The etiopathology of bipolar disorders is yet unraveled and new avenues should be pursued. One such avenue may be based on the assumption that the bipolar broad spectrum includes, among others, an array of rare medical disease entities. Towards this aim we propose a dissecting approach based on a search for rare medical diseases with known etiopathology which also exhibit bipolar disorders symptomatology. We further suggest that the etiopathologic mechanisms underlying such rare medical diseases may also underlie a rare variant of bipolar disorder...
November 1, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/29096909/-assessment-of-mood-disorders-by-passive-data-gathering-the-concept-of-digital-phenotype-versus-psychiatrist-s-professional-culture
#20
A Bourla, F Ferreri, L Ogorzelec, C Guinchard, S Mouchabac
OBJECTIVES: The search for objective clinical signs is a constant practitioners' and researchers' concern in psychiatry. New technologies (embedded sensors, artificial intelligence) give an easier access to untapped information such as passive data (i.e. that do not require patient intervention). The concept of "digital phenotype" is emerging in psychiatry: a psychomotor alteration translated by accelerometer's modifications contrasting with the usual functioning of the subject, or the graphorrhea of patients presenting a manic episode which is replaced by an increase of SMS sent...
October 30, 2017: L'Encéphale
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