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Psychiatric Genetics

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https://www.readbyqxmd.com/read/28334938/clinical-and-genetic-characterization-of-leukoencephalopathies-in-adults
#1
David S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua, Leandro Tavares Lucato, Lucia Inês Macedo-Souza, Rahul Lakshmanan, Justin A Kinsella, Aine Merwick, Alexander M Rossor, Nin Bajaj, Brian Herron, Paul McMonagle, Patrick J Morrison, Deborah Hughes, Alan Pittman, Matilde Laurà, Mary M Reilly, Jason D Warren, Catherine J Mummery, Jonathan M Schott, Matthew Adams, Nick C Fox, Elaine Murphy, Indran Davagnanam, Fernando Kok, Jeremy Chataway, Henry Houlden
Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all...
March 2, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334933/disrupted-in-schizophrenia-1is-essential-for-normal-hypothalamic-pituitary-interrenal-hpi-axis-function
#2
Helen Eachus, Charlotte Bright, Vincent T Cunliffe, Marysia Placzek, Jonathan D Wood, Penelope J Watt
Psychiatric disorders arise due to an interplay of genetic and environmental factors, including stress. Studies in rodents have shown that mutants for Disrupted-In-Schizophrenia-1 (DISC1), a well-accepted genetic risk factor for mental illness, display abnormal behaviours in response to stress, but the mechanisms through which DISC1 affects stress responses remain poorly understood. Using two lines of zebrafish homozygous mutant for disc1, we investigated behaviour and functioning of the hypothalamic-pituitary-interrenal (HPI) axis, the fish equivalent of the hypothalamic-pituitary-adrenal (HPA) axis...
March 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334053/new-insights-of-altered-lipid-profile-in-fragile-x-syndrome
#3
Artuela Çaku, Nabil G Seidah, Audrey Lortie, Nancy Gagné, Patrice Perron, Jean Dubé, Francois Corbin
BACKGROUND: Fragile X Syndrome (FXS) is the main genetic cause of autism and intellectual deficiency resulting the absence of the Fragile X Mental Retardation Protein (FMRP). Clinical picture is characterized by cognitive impairment associated with a broad spectrum of psychiatric comorbidities including autism spectrum disorders and attention-deficit/hyperactivity disorders. Some of these disorders have been associated with lipid abnormalities and lower cholesterol levels. Since lipids are important for neuronal development, we aim to investigate the lipid profile of French Canadian-FXS individuals and to identify the altered components of cholesterol metabolism as well as their association with clinical profile...
2017: PloS One
https://www.readbyqxmd.com/read/28333692/application-of-olfactory-tissue-and-its-neural-progenitors-to-schizophrenia-and-psychiatric-research
#4
Joëlle Lavoie, Akira Sawa, Koko Ishizuka
PURPOSE OF REVIEW: The goal of this review article is to introduce olfactory epithelium-derived cell/tissue models as a promising surrogate system to study the molecular mechanisms implicated in schizophrenia and other neuropsychiatric disorders. Here, we particularly focus on the utility of their neural progenitors. RECENT FINDINGS: Recent investigations of the pathophysiology of schizophrenia using olfactory epithelium-derived tissue/cell models have provided insights about schizophrenia-associated alterations in neurodevelopment, stress response, and gene/protein expression regulatory pathways...
March 22, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28330790/outcomes-of-diagnostic-exome-sequencing-in-patients-with-diagnosed-or-suspected-autism-spectrum-disorders
#5
Mari Rossi, Dima El-Khechen, Mary Helen Black, Kelly D Farwell Hagman, Sha Tang, Zöe Powis
BACKGROUND: Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS: We performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (66.3%) or autistic features (33.7%). RESULTS: The diagnostic yield observed in patients in our cohort was 25...
February 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28329545/darier-white-disease
#6
Mitalee P Christman, Evan Reider, Randie H Kim, Nooshin Brinster, Elisa Femia, Miriam Keltz Pomeranz
We present a 58-year-old woman with bipolardisorder and with a longstanding history of yellowbrown,hyperkeratotic papules in a seborrheicdistribution and nail changes. Her father andpaternal grandmother had similar eruptions and alsohad psychiatric disease. Histopathologic examinationshowed acantholysis and dyskeratosis, which wasconsistent with Darier-White disease. Darier-Whitedisease is a rare, hereditary disorder that is inheritedin an autosomal dominant manner and that usuallypresents in adolescence or early adulthood dueto mutations in the SERCA2 calcium pump...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328381/psychiatric-genetics-in-a-risk-society
#7
Nicole Martinez-Martin
No abstract text is available yet for this article.
April 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28328372/psychiatric-genomics-and-mental-health-treatment-setting-the-ethical-agenda
#8
Camillia Kong, Michael Dunn, Michael Parker
Realizing the benefits of translating psychiatric genomics research into mental health care is not straightforward. The translation process gives rise to ethical challenges that are distinctive from challenges posed within psychiatric genomics research itself, or that form part of the delivery of clinical psychiatric genetics services. This article outlines and considers three distinct ethical concerns posed by the process of translating genomic research into frontline psychiatric practice and policy making...
April 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28328369/responsible-translation-of-psychiatric-genetics-and-other-neuroscience-developments-in-need-of-empirical-bioethics-research
#9
Gabriel Lázaro-Muñoz
No abstract text is available yet for this article.
April 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28328368/a-valuable-new-direction-in-ethical-analysis-of-psychiatric-genetics
#10
Steven E Hyman
No abstract text is available yet for this article.
April 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28328358/the-cautionary-tale-of-the-initial-widespread-foray-into-psychiatric-genetics
#11
Michael James Redinger, Tyler S Gibb, Perry Westerman
No abstract text is available yet for this article.
April 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28327175/schizophrenia-and-substance-use-comorbidity-a-genome-wide-perspective
#12
Renato Polimanti, Arpana Agrawal, Joel Gelernter
Dual diagnosis with substance use disorders (SUDs) consistently contributes to the premature mortality and increased disability observed in schizophrenia. Large genome-wide association studies are providing the information needed to investigate the genetic architecture of psychiatric disorders. Here, we discuss recent genetic investigations of dual diagnosis (i.e., schizophrenia plus a SUD) and how these findings can inform public health messages.
March 21, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28324302/huntington-s-disease-update-on-treatments
#13
REVIEW
Kara J Wyant, Andrew J Ridder, Praveen Dayalu
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, ending in death. Despite the discovery of the underlying genetic mutation more than 20 years ago, treatment remains focused on symptomatic management. Chorea, the most recognizable symptom, responds to medication that reduces dopaminergic neurotransmission. Psychiatric symptoms such as depression and anxiety may also respond well to symptomatic therapies...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28323373/the-impact-of-mental-illness-on-uptake-of-genetic-counseling-for-hereditary-breast-cancer-and-ovarian-cancer-in-a-multiethnic-cohort-of-breast-cancer-patients
#14
Marra G Ackerman, Peter A Shapiro, Austin Coe, Meghna S Trivedi, Katherine D Crew
We evaluated whether mental illness is a barrier to genetic counseling for hereditary breast and ovarian cancer (HBOC) in multiethnic breast cancer patients. We conducted a retrospective analysis of 308 women with newly diagnosed breast cancer and eligible for HBOC genetic testing seen in the breast clinic of an academic, urban medical center from 2007 to 2015. Uptake of genetic services and history of mental health disorder (MHD), defined as a psychiatric diagnosis or treatment with an antidepressant, mood stabilizer, anxiolytic, or antipsychotic medication, were ascertained by medical chart review...
March 21, 2017: Breast Journal
https://www.readbyqxmd.com/read/28322284/genomic-resources-for-the-study-of-neuropsychiatric-disorders
#15
G Senthil, T Dutka, L Bingaman, T Lehner
The National Institute of Mental Health (NIMH) has made sustained investments in the development of genomic resources over the last two decades. These investments have led to the development of the largest biorepository for psychiatric genetics as a centralized national resource. In the realm of genomic resources, NIMH has been supporting large team science (TS) consortia focused on gene discovery, fine mapping of loci, and functional genomics using state-of-the-art technologies. The scientific output from these efforts has not only begun to transform our understanding of the genetic architecture of neuropsychiatric disorders, but it has also led to a broader cultural change among the investigator community towards deeper collaborations and broad pre-publication sharing of data and resources...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28322275/oxidative-stress-driven-parvalbumin-interneuron-impairment-as-a-common-mechanism-in-models-of-schizophrenia
#16
P Steullet, J-H Cabungcal, J Coyle, M Didriksen, K Gill, A A Grace, T K Hensch, A-S LaMantia, L Lindemann, T M Maynard, U Meyer, H Morishita, P O'Donnell, M Puhl, M Cuenod, K Q Do
Parvalbumin inhibitory interneurons (PVIs) are crucial for maintaining proper excitatory/inhibitory balance and high-frequency neuronal synchronization. Their activity supports critical developmental trajectories, sensory and cognitive processing, and social behavior. Despite heterogeneity in the etiology across schizophrenia and autism spectrum disorder, PVI circuits are altered in these psychiatric disorders. Identifying mechanism(s) underlying PVI deficits is essential to establish treatments targeting in particular cognition...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28322274/a-rare-missense-variant-in-rcl1-segregates-with-depression-in-extended-families
#17
N Amin, F M S de Vrij, M Baghdadi, R W W Brouwer, J G J van Rooij, O Jovanova, A G Uitterlinden, A Hofman, H L A Janssen, S Darwish Murad, R Kraaij, J Stedehouder, M C G N van den Hout, J M Kros, W F J van IJcken, H Tiemeier, S A Kushner, C M van Duijn
Depression is the most prevalent psychiatric disorder with a complex and elusive etiology that is moderately heritable. Identification of genes would greatly facilitate the elucidation of the biological mechanisms underlying depression, however, its complex etiology has proved to be a major bottleneck in the identification of its genetic risk factors, especially in genome-wide association-like studies. In this study, we exploit the properties of a genetic isolate and its family-based structure to explore whether relatively rare exonic variants influence the burden of depressive symptoms in families...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28322273/neuregulin-2-ablation-results-in-dopamine-dysregulation-and-severe-behavioral-phenotypes-relevant-to-psychiatric-disorders
#18
L Yan, A Shamir, M Skirzewski, E Leiva-Salcedo, O B Kwon, I Karavanova, D Paredes, O Malkesman, K R Bailey, D Vullhorst, J N Crawley, A Buonanno
Numerous genetic and functional studies implicate variants of Neuregulin-1 (NRG1) and its neuronal receptor ErbB4 in schizophrenia and many of its endophenotypes. Although the neurophysiological and behavioral phenotypes of NRG1 mutant mice have been investigated extensively, practically nothing is known about the function of NRG2, the closest NRG1 homolog. We found that NRG2 expression in the adult rodent brain does not overlap with NRG1 and is more extensive than originally reported, including expression in the striatum and medial prefrontal cortex (mPFC), and therefore generated NRG2 knockout mice (KO) to study its function...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28322246/genetic-correlation-between-amyotrophic-lateral-sclerosis-and-schizophrenia
#19
Russell L McLaughlin, Dick Schijven, Wouter van Rheenen, Kristel R van Eijk, Margaret O'Brien, René S Kahn, Roel A Ophoff, An Goris, Daniel G Bradley, Ammar Al-Chalabi, Leonard H van den Berg, Jurjen J Luykx, Orla Hardiman, Jan H Veldink
We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6; P=1 × 10(-4)) with schizophrenia polygenic risk scores explaining up to 0...
March 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28317218/rodent-models-of-genetic-and-chromosomal-variations-in-psychiatric-disorders
#20
Jun Nomura, Geetha Kannan, Toru Takumi
Elucidating the molecular basis of complex human psychiatric disorders is challenging due to the multitude of factors that underpin these disorders. Genetic and chromosomal changes are two factors that have been suggested to be involved in psychiatric disorders. Indeed, numerous risk loci have been identified in autism spectrum disorders (ASD), schizophrenia, and related psychiatric disorders. Here, we introduce genetic animal models that disturb excitatory-inhibitory (E/I) balance in the brain and animal models mirroring human chromosomal abnormalities, both of which may be implicated in ASD pathophysiology...
March 20, 2017: Psychiatry and Clinical Neurosciences
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