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https://www.readbyqxmd.com/read/29790107/the-role-of-pharmacogenomics-in-bipolar-disorder-moving-towards-precision-medicine
#1
REVIEW
Claudia Pisanu, Urs Heilbronner, Alessio Squassina
Bipolar disorder (BD) is a common and disabling psychiatric condition with a severe socioeconomic impact. BD is treated with mood stabilizers, among which lithium represents the first-line treatment. Lithium alone or in combination is effective in 60% of chronically treated patients, but response remains heterogenous and a large number of patients require a change in therapy after several weeks or months. Many studies have so far tried to identify molecular and genetic markers that could help us to predict response to mood stabilizers or the risk for adverse drug reactions...
May 22, 2018: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29784668/centrosome-linker-induced-tetraploid-segregation-errors-link-rhabdoid-phenotypes-and-lethal-colorectal-cancers
#2
Andrea Remo, Erminia Manfrin, Pietro Parcesepe, Alberto Ferrarini, Hye Seung Han, Mickys Ugnius, Carmelo Laudanna, Michele Simbolo, Donatella Malanga, Duarte Mendes Oliveira, Elisabetta Baritono, Tommaso Colangelo, Lina Sabatino, Jacopo Giuliani, Enrico Molinari, Marianna Garonzi, Luciano Xumerle, Massimo Delledonne, Guido Giordano, Claudio Ghimenton, Fortunato Lonardo, Fulvio D'angelo, Federica Grillo, Luca Mastracci, Giuseppe Viglietto, Michele Ceccarelli, Vittorio Colantuoni, Aldo Scarpa, Massimo Pancione
Centrosome anomalies contribute to tumorigenesis but it remains unclear how they are generated in lethal cancer phenotypes. Here, it is demonstrated that human microsatellite instable (MSI) and BRAF(V600E) mutant colorectal cancers with a lethal rhabdoid phenotype are characterized by inactivation of centrosomal functions. A splice site mutation that causes an unbalanced dosage of rootletin (CROCC), a centrosomal-linker component required for centrosome cohesion and separation at the chromosome 1p36.13 locus, resulted in abnormally shaped centrosomes in rhabdoid cells from human colon tissues...
May 21, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29776774/association-of-disrupted-circadian-rhythmicity-with-mood-disorders-subjective-wellbeing-and-cognitive-function-a-cross-sectional-study-of-91-105-participants-from-the-uk-biobank
#3
Laura M Lyall, Cathy A Wyse, Nicholas Graham, Amy Ferguson, Donald M Lyall, Breda Cullen, Carlos A Celis Morales, Stephany M Biello, Daniel Mackay, Joey Ward, Rona J Strawbridge, Jason M R Gill, Mark E S Bailey, Jill P Pell, Daniel J Smith
BACKGROUND: Disruption of sleep and circadian rhythmicity is a core feature of mood disorders and might be associated with increased susceptibility to such disorders. Previous studies in this area have used subjective reports of activity and sleep patterns, but the availability of accelerometer-based data from UK Biobank participants permits the derivation and analysis of new, objectively ascertained circadian rhythmicity parameters. We examined associations between objectively assessed circadian rhythmicity and mental health and wellbeing phenotypes, including lifetime history of mood disorder...
May 15, 2018: Lancet Psychiatry
https://www.readbyqxmd.com/read/29768498/genomic-variants-in-an-inbred-mouse-model-predict-mania-like-behaviors
#4
Michael C Saul, Sharon A Stevenson, Changjiu Zhao, Terri M Driessen, Brian E Eisinger, Stephen C Gammie
Contemporary rodent models for bipolar disorders split the bipolar spectrum into complimentary behavioral endophenotypes representing mania and depression. Widely accepted mania models typically utilize single gene transgenics or pharmacological manipulations, but inbred rodent strains show great potential as mania models. Their acceptance is often limited by the lack of genotypic data needed to establish construct validity. In this study, we used a unique strategy to inexpensively explore and confirm population allele differences in naturally occurring candidate variants in a manic rodent strain, the Madison (MSN) mouse strain...
2018: PloS One
https://www.readbyqxmd.com/read/29765027/polygenic-pleiotropy-and-potential-causal-relationships-between-educational-attainment-neurobiological-profile-and-positive-psychotic-symptoms
#5
Yen-Feng Lin, Chia-Yen Chen, Dost Öngür, Rebecca Betensky, Jordan W Smoller, Deborah Blacker, Mei-Hua Hall
Event-related potential (ERP) components have been used to assess cognitive functions in patients with psychotic illness. Evidence suggests that among patients with psychosis there is a distinct heritable neurophysiologic phenotypic subtype captured by impairments across a range of ERP measures. In this study, we investigated the genetic basis of this "globally impaired" ERP cluster and its relationship to psychosis and cognitive abilities. We applied K-means clustering to six ERP measures to re-derive the globally impaired (n = 60) and the non-globally impaired ERP clusters (n = 323) in a sample of cases with schizophrenia (SCZ = 136) or bipolar disorder (BPD = 121) and healthy controls (n = 126)...
May 16, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29760528/lrrtm4-c538y-novel-gene-mutation-is-associated-with-hereditary-macular-degeneration-with-novel-dysfunction-of-on-type-bipolar-cells
#6
Yuichi Kawamura, Akiko Suga, Takuro Fujimaki, Kazutoshi Yoshitake, Kazushige Tsunoda, Akira Murakami, Takeshi Iwata
The macula is a unique structure in higher primates, where cone and rod photoreceptors show highest density in the fovea and the surrounding area, respectively. The hereditary macular dystrophies represent a heterozygous group of rare disorders characterized by central visual loss and atrophy of the macula and surrounding retina. Here we report an atypical absence of ON-type bipolar cell response in a Japanese patient with autosomal dominant macular dystrophy (adMD). To identify a causal genetic mutation for the adMD, we performed whole-exome sequencing (WES) on four affected and four-non affected members of the family for three generations, and identified a novel p...
May 14, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29759822/multivariate-relationships-between-cognition-and-brain-anatomy-across-the-psychosis-spectrum
#7
Amanda L Rodrigue, Jennifer E McDowell, Neeraj Tandon, Matcheri S Keshavan, Carol A Tamminga, Godfrey D Pearlson, John A Sweeney, Robert D Gibbons, Brett A Clementz
BACKGROUND: Cognitive and structural brain abnormalities range from mild to severe in psychosis. The relation of specific cognitive functions to specific brain structures across the psychosis spectrum is less certain. METHODS: Participants (n = 678) with bipolar, schizoaffective, or schizophrenia psychoses and healthy control subjects were recruited via the Bipolar-Schizophrenia Network for Intermediate Phenotypes. The Schizo-Bipolar Scale was used to create a psychosis continuum (from purely affective to purely nonaffective)...
March 31, 2018: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/29743192/prolonged-cyclin-dependent-kinase-inhibition-results-in-septin-perturbations-during-return-to-growth-and-mitosis
#8
Gabriel M Gihana, Tiffany R Musser, Oscar Thompson, Soni Lacefield
We investigated how Saccharomyces cerevisiae coordinate polarization, budding, and anaphase during a unique developmental program called return to growth (RTG) in which cells in meiosis return to mitosis upon nutrient shift. Cells reentering mitosis from prophase I deviate from the normal cell cycle by budding in G2 instead of G1. We found that cells do not maintain the bipolar budding pattern, a characteristic of diploid cells. Furthermore, strict temporal regulation of M-phase cyclin-dependent kinase (CDK; M-CDK) is important for polarity establishment and morphogenesis...
May 9, 2018: Journal of Cell Biology
https://www.readbyqxmd.com/read/29739866/region-specific-regulation-of-presynaptic-dopamine-homeostasis-by-d2-autoreceptors-shapes-the-in-vivo-impact-of-the-neuropsychiatric-disease-associated-dat-variant-val559
#9
Raajaram Gowrishankar, Paul J Gresch, Gwynne L Davis, Rania M Katamish, Justin R Riele, Adele M Stewart, Roxanne A Vaughan, Maureen K Hahn, Randy D Blakely
Disruptions of dopamine (DA) signaling contribute to a broad spectrum of neuropsychiatric disorders, including attention-deficit hyperactivity disorder (ADHD), addiction, bipolar disorder and schizophrenia. Despite evidence that risk for these disorders derives from heritable variation in DA-linked genes, a better understanding is needed of the molecular and circuit context through which gene variation drives distinct disease traits. Previously, we identified the DA transporter (DAT) variant Val559 in subjects with ADHD and established that the mutation supports anomalous DAT-mediated DA efflux (ADE)...
May 8, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29739816/-cacna1c-haploinsufficiency-leads-to-pro-social-50-khz-ultrasonic-communication-deficits-in-rats
#10
Theresa M Kisko, Moria D Braun, Susanne Michels, Stephanie H Witt, Marcella Rietschel, Carsten Culmsee, Rainer K W Schwarting, Markus Wöhr
The cross-disorder risk gene CACNA1C is strongly implicated in multiple neuropsychiatric disorders, including autism spectrum disorder (ASD), bipolar disorder (BPD), and schizophrenia (SCZ), with deficits in social functioning being common for all major neuropsychiatric disorders. In the present study, we explored the role of Cacna1c in regulating disorder-relevant behavioral phenotypes, focusing on socio-affective communication after weaning during the critical developmental period of adolescence in rats. To this aim, we used a newly developed genetic Cacna1c rat model and applied a truly reciprocal approach for studying communication through ultrasonic vocalizations, including both sender and receiver...
May 8, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29730177/ankyrins-roles-in-synaptic-biology-and-pathology
#11
REVIEW
Katharine R Smith, Peter Penzes
Ankyrins are broadly expressed adaptors that organize diverse membrane proteins into specialized domains and link them to the sub-membranous cytoskeleton. In neurons, ankyrins are known to have essential roles in organizing the axon initial segment and nodes of Ranvier. However, recent studies have revealed novel functions for ankyrins at synapses, where they organize and stabilize neurotransmitter receptors, modulate dendritic spine morphology and control adhesion to the presynaptic site. Ankyrin genes have also been highly associated with a range of neurodevelopmental and psychiatric diseases, including bipolar disorder, schizophrenia and autism, which all demonstrate overlap in their genetics, mechanisms and phenotypes...
May 3, 2018: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29725679/kinome-chemoproteomics-characterization-of-pyrrolo-3-4-c-pyrazoles-as-potent-and-selective-inhibitors-of-glycogen-synthase-kinase-3
#12
Martin Golkowski, Gayani K Perera, Venkata Narayana Vidadala, Kayode K Ojo, Wesley C Van Voorhis, Dustin J Maly, Shao-En Ong
Glycogen synthase kinase 3 has evolutionarily conserved roles in cell signaling and metabolism and is a recognized drug target in neurological pathologies, most prominently bipolar disorder. More recently it has been suggested that GSK3 may be a target for the treatment of trypanosomatid parasite infections, e.g. with T. brucei, due to the lethal phenotype observed in parasite GSK3 short RNAi knockdown experiments. Here we investigated the kinome selectivity of a library of pyrrolo[3,4-c]pyrazol inhibitors that were developed against T...
February 12, 2018: Molecular omics
https://www.readbyqxmd.com/read/29717657/bone-marrow-cd133-stem-cells-ameliorate-visual-dysfunction-in-streptozotocin-induced-diabetic-mice-with-early-diabetic-retinopathy
#13
Liyuan Rong, Xianliang Gu, Jing Xie, Yuxiao Zeng, Qiyou Li, Siyu Chen, Ting Zou, Langyue Xue, Haiwei Xu, Zheng Qin Yin
Diabetic retinopathy (DR), one of the leading causes of vision loss worldwide, is characterized by neurovascular disorders. Emerging evidence has demonstrated retinal neurodegeneration in the early pathogenesis of DR, and no treatment has been developed to prevent the early neurodegenerative changes that precede detectable microvascular disorders. Bone marrow CD133+ stem cells with revascularization properties exhibit neuroregenerative potential. However, whether CD133+ cells can ameliorate the neurodegeneration at the early stage of DR remains unclear...
January 1, 2018: Cell Transplantation
https://www.readbyqxmd.com/read/29696747/marker-chromosome-genomic-structure-and-temporal-origin-implicate-a-chromoanasynthesis-event-in-a-family-with-pleiotropic-psychiatric-phenotypes
#14
Christopher M Grochowski, Shen Gu, Bo Yuan, Julia Tcw, Kristen J Brennand, Jonathan Sebat, Dheeraj Malhotra, Shane McCarthy, Uwe Rudolph, Anna Lindstrand, Zechen Chong, Deborah L Levy, James R Lupski, Claudia M B Carvalho
Small supernumerary marker chromosomes (sSMC) are chromosomal fragments difficult to characterize genomically. Here we detail a proband with schizoaffective disorder and a mother with bipolar disorder with psychotic features who present with a marker chromosome that segregates with disease. We explored the architecture of this marker and investigated its temporal origin. Array comparative genomic hybridization (aCGH) analysis revealed 3 duplications and 3 triplications that spanned the short arm of chromosome 9, suggestive of a chromoanasynthesis-like event...
April 25, 2018: Human Mutation
https://www.readbyqxmd.com/read/29686068/recurrent-structural-variation-clustered-sites-of-selection-and-disease-risk-for-the-complement-factor-h-cfh-gene-family
#15
Stuart Cantsilieris, Bradley J Nelson, John Huddleston, Carl Baker, Lana Harshman, Kelsi Penewit, Katherine M Munson, Melanie Sorensen, AnneMarie E Welch, Vy Dang, Felix Grassmann, Andrea J Richardson, Robyn H Guymer, Tina A Graves-Lindsay, Richard K Wilson, Bernhard H F Weber, Paul N Baird, Rando Allikmets, Evan E Eichler
Structural variation and single-nucleotide variation of the complement factor H ( CFH ) gene family underlie several complex genetic diseases, including age-related macular degeneration (AMD) and atypical hemolytic uremic syndrome (AHUS). To understand its diversity and evolution, we performed high-quality sequencing of this ∼360-kbp locus in six primate lineages, including multiple human haplotypes. Comparative sequence analyses reveal two distinct periods of gene duplication leading to the emergence of four CFH -related ( CFHR ) gene paralogs ( CFHR2 and CFHR4 ∼25-35 Mya and CFHR1 and CFHR3 ∼7-13 Mya)...
April 23, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29673576/the-role-of-genetic-variation-of-human-metabolism-for-bmi-mental-traits-and-mental-disorders
#16
Johannes Hebebrand, Triinu Peters, Dick Schijven, Moritz Hebebrand, Corinna Grasemann, Thomas W Winkler, Iris M Heid, Jochen Antel, Manuel Föcker, Lisa Tegeler, Lena Brauner, Roger A H Adan, Jurjen J Luykx, Christoph U Correll, Inke R König, Anke Hinney, Lars Libuda
OBJECTIVE: The aim was to assess whether loci associated with metabolic traits also have a significant role in BMI and mental traits/disorders METHODS: We first assessed the number of single nucleotide polymorphisms (SNPs) with genome-wide significance for human metabolism (NHGRI-EBI Catalog). These 516 SNPs (216 independent loci) were looked-up in genome-wide association studies for association with body mass index (BMI) and the mental traits/disorders educational attainment, neuroticism, schizophrenia, well-being, anxiety, depressive symptoms, major depressive disorder, autism-spectrum disorder, attention-deficit/hyperactivity disorder, Alzheimer's disease, bipolar disorder, aggressive behavior, and internalizing problems...
April 3, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29671935/a-data-driven-investigation-of-relationships-between-bipolar-psychotic-symptoms-and-schizophrenia-genome-wide-significant-genetic-loci
#17
Ganna Leonenko, Arianna Di Florio, Judith Allardyce, Liz Forty, Sarah Knott, Lisa Jones, Katherine Gordon-Smith, Michael J Owen, Ian Jones, James Walters, Nick Craddock, Michael C O'Donovan, Valentina Escott-Price
The etiologies of bipolar disorder (BD) and schizophrenia include a large number of common risk alleles, many of which are shared across the disorders. BD is clinically heterogeneous and it has been postulated that the pattern of symptoms is in part determined by the particular risk alleles carried, and in particular, that risk alleles also confer liability to schizophrenia influence psychotic symptoms in those with BD. To investigate links between psychotic symptoms in BD and schizophrenia risk alleles we employed a data-driven approach in a genotyped and deeply phenotyped sample of subjects with BD...
April 19, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29669557/discovery-biology-of-neuropsychiatric-syndromes-dbns-a-center-for-integrating-clinical-medicine-and-basic-science
#18
Biju Viswanath, Naren P Rao, Janardhanan C Narayanaswamy, Palanimuthu T Sivakumar, Arun Kandasamy, Muralidharan Kesavan, Urvakhsh Meherwan Mehta, Ganesan Venkatasubramanian, John P John, Odity Mukherjee, Meera Purushottam, Ramakrishnan Kannan, Bhupesh Mehta, Thennarasu Kandavel, B Binukumar, Jitender Saini, Deepak Jayarajan, A Shyamsundar, Sydney Moirangthem, K G Vijay Kumar, Jagadisha Thirthalli, Prabha S Chandra, Bangalore N Gangadhar, Pratima Murthy, Mitradas M Panicker, Upinder S Bhalla, Sumantra Chattarji, Vivek Benegal, Mathew Varghese, Janardhan Y C Reddy, Padinjat Raghu, Mahendra Rao, Sanjeev Jain
BACKGROUND: There is emerging evidence that there are shared genetic, environmental and developmental risk factors in psychiatry, that cut across traditional diagnostic boundaries. With this background, the Discovery biology of neuropsychiatric syndromes (DBNS) proposes to recruit patients from five different syndromes (schizophrenia, bipolar disorder, obsessive compulsive disorder, Alzheimer's dementia and substance use disorders), identify those with multiple affected relatives, and invite these families to participate in this study...
April 18, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/29666432/genetic-validation-of-bipolar-disorder-identified-by-automated-phenotyping-using-electronic-health-records
#19
Chia-Yen Chen, Phil H Lee, Victor M Castro, Jessica Minnier, Alexander W Charney, Eli A Stahl, Douglas M Ruderfer, Shawn N Murphy, Vivian Gainer, Tianxi Cai, Ian Jones, Carlos N Pato, Michele T Pato, Mikael Landén, Pamela Sklar, Roy H Perlis, Jordan W Smoller
Bipolar disorder (BD) is a heritable mood disorder characterized by episodes of mania and depression. Although genomewide association studies (GWAS) have successfully identified genetic loci contributing to BD risk, sample size has become a rate-limiting obstacle to genetic discovery. Electronic health records (EHRs) represent a vast but relatively untapped resource for high-throughput phenotyping. As part of the International Cohort Collection for Bipolar Disorder (ICCBD), we previously validated automated EHR-based phenotyping algorithms for BD against in-person diagnostic interviews (Castro et al...
April 18, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29656322/p190rhogap-prevents-mitotic-spindle-fragmentation-and-is-required-to-activate-aurora-a-kinase-at-acentriolar-poles
#20
Arkadi Manukyan, Lilit Sargsyan, Sarah J Parsons, P Todd Stukenberg
Assembly of the mitotic spindle is essential for proper chromosome segregation during mitosis. Maintenance of spindle poles requires precise regulation of kinesin- and dynein-generated forces, and improper regulation of these forces disrupts pole integrity leading to pole fragmentation. The formation and function of the mitotic spindle are regulated by many proteins, including Aurora A kinase and the motor proteins Kif2a and Eg5. Here, we characterize a surprising role for the RhoA GTPase-activating protein, p190RhoGAP, in regulating the mitotic spindle...
April 14, 2018: Chromosoma
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