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Neuropsychiatric genetics

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https://www.readbyqxmd.com/read/29777584/neuropsychiatric-expression-and-catatonia-in-22q11-2-deletion-syndrome-an-overview-and-case-series
#1
Nancy J Butcher, Erik Boot, Anthony E Lang, Danielle Andrade, Jacob Vorstman, Donna McDonald-McGinn, Anne S Bassett
Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11...
May 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29775836/cognitive-and-behavioural-dispositions-in-offspring-at-high-risk-for-alcoholism
#2
Rajesh Kumar, Keshav Janakiprasad Kumar, Vivek Benegal
OBJECTIVES: Offspring with family history of alcoholism are considered to be at high risk for alcoholism. The present study sought to expand our understanding of cognitive and behavioural dispositions associated with executive control and self-regulation in alcohol naïve offspring with and without family history of alcoholism. METHODS: Sample comprised of alcohol naive offspring in two groups: (i) at high risk (n = 34) and (ii) at low risk for alcoholism (n = 34)...
May 15, 2018: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/29774447/infertility-in-the-aging-male
#3
REVIEW
Daniel J Mazur, Larry I Lipshultz
PURPOSE OF REVIEW: In many countries, the average age of paternity is rising. The negative effect of older age on fertility in women is well documented; however, less is known about the impact of paternal age on fecundity. In this review, we summarize the current knowledge of how paternal age affects semen parameters, reproductive success, and offspring health. RECENT FINDINGS: Contemporary evidence confirms that aged men have worse semen parameters, including overall negative changes in sperm genetics...
May 17, 2018: Current Urology Reports
https://www.readbyqxmd.com/read/29773754/a-critical-neurodevelopmental-role-for-l-type-voltage-gated-calcium-channels-in-neurite-extension-and-radial-migration
#4
Satoshi Kamijo, Yuichiro Ishii, Shin-Ichiro Horigane, Kanzo Suzuki, Masamichi Ohkura, Junichi Nakai, Hajime Fujii, Sayaka Takemoto-Kimura, Haruhiko Bito
In spite of many association studies linking gene polymorphisms and mutations of L-type Voltage-Gated Ca2+ Channels (VGCC) in neurodevelopmental disorders, such as autism and schizophrenia, specific L-type VGCC roles during brain development remain unclear. Yet, calcium signaling has been shown to be essential for neurodevelopmental processes such as sculpting of neurites, functional wiring and fine tuning of growing networks. To bridge this gap, we performed submembraneous calcium imaging using a membrane-tethered genetically-encoded calcium indicator (GECI) Lck-G-CaMP7...
May 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29764998/mapping-cortical-brain-asymmetry-in-17-141-healthy-individuals-worldwide-via-the-enigma-consortium
#5
Xiang-Zhen Kong, Samuel R Mathias, Tulio Guadalupe, David C Glahn, Barbara Franke, Fabrice Crivello, Nathalie Tzourio-Mazoyer, Simon E Fisher, Paul M Thompson, Clyde Francks
Hemispheric asymmetry is a cardinal feature of human brain organization. Altered brain asymmetry has also been linked to some cognitive and neuropsychiatric disorders. Here, the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) Consortium presents the largest-ever analysis of cerebral cortical asymmetry and its variability across individuals. Cortical thickness and surface area were assessed in MRI scans of 17,141 healthy individuals from 99 datasets worldwide. Results revealed widespread asymmetries at both hemispheric and regional levels, with a generally thicker cortex but smaller surface area in the left hemisphere relative to the right...
May 15, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29761093/functional-characterization-of-novel-atp7b-variants-for-diagnosis-of-wilson-disease
#6
Sarah Guttmann, Friedrich Bernick, Magdalena Naorniakowska, Ulf Michgehl, Sara Reinartz Groba, Piotr Socha, Andree Zibert, Hartmut H Schmidt
Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children having mild symptoms. Objectives: To assess the impact of molecularly expressed ATP7B gene products in order to assist diagnosis of Wilson disease in pediatric patients having a novel mutation and subtle neuropsychiatric disease. Methods: The medical history, clinical presentation, biochemical parameters, and the genetic analysis of ATP7B were determined...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29756080/-de-novo-mutations-and-rare-variants-occurring-in-nmda-receptors
#7
Wenshu XiangWei, Yuwu Jiang, Hongjie Yuan
A significant number of variants/mutations in the N -methyl-D -aspartate glutamatergic receptor (NMDAR) gene family ( GRIN ) have been identified along with stunning advances in the technologies of next generation of whole-exome sequencing. Mutations in human GRIN genes are distributed throughout the entire gene, from amino terminal domain to C-terminal domain, in patients with various neuropsychiatric disorders, including autism spectrum disorders, epilepsy, intellectual disability, attention deficit hyperactivity disorder, and schizophrenia...
April 2018: Current Opinion in Physiology
https://www.readbyqxmd.com/read/29747866/understanding-taurine-cns-activity-using-alternative-zebrafish-models
#8
Nathana J Mezzomo, Barbara D Fontana, Allan V Kalueff, Leonardo J G Barcellos, Denis B Rosemberg
Taurine is a highly abundant "amino acid" in the brain. Although the potential neuroactive role of taurine in vertebrates has long been recognized, the underlying molecular mechanisms related to its pleiotropic effects in the brain remain poorly understood. Due to the genetic tractability, rich behavioral repertoire, neurochemical conservation, and small size, the zebrafish (Danio rerio) has emerged as a powerful candidate for neuropsychopharmacology investigation and in vivo drug screening. Here, we summarize the main physiological roles of taurine in mammals, including neuromodulation, osmoregulation, membrane stabilization, and antioxidant action...
May 7, 2018: Neuroscience and Biobehavioral Reviews
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/29735555/genetic-activation-inactivation-and-deletion-reveal-a-limited-and-nuanced-role-for-somatostatin-containing-basal-forebrain-neurons-in-behavioral-state-control
#11
Christelle Anaclet, Roberto De Luca, Anne Venner, Olga Malyshevskaya, Michael Lazarus, Elda Arrigoni, Patrick M Fuller
Recent studies have identified an especially important role for basal forebrain GABAergic (BFVGAT ) neurons in the regulation of behavioral waking and fast cortical rhythms associated with cognition. However, BFVGAT neurons comprise several neurochemically and anatomically distinct sub-populations, including parvalbumin- and somatostatin-containing BFVGAT neurons (BFParv and BFSOM ), and it was recently reported that optogenetic activation of BFSOM neurons increases the probability of a wakefulness to non-rapid-eye movement (NREM) sleep transition when stimulated during the animal's rest period...
May 7, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29735114/tic-disorders-and-pandas
#12
Joanna S Blackburn
Tics are the most common movement disorder in childhood and are a frequent reason for referral to child neurology clinics. The purpose of this review is to examine the phenomenology of tics, discuss what is known regarding their genetic and pathophysiological causes and to evaluate current treatment options. The evidence for the evaluation and treatment of the controversial diagnosis of pediatric autoimmune neuropsychiatric disorders associated with group A streptococci (PANDAS) will also be reviewed. With improved understanding of tic disorders, their etiology and response to current treatment options, we may be able to more effectively diagnose them and identify novel treatment strategies...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29732242/copy-number-variation-disorders
#13
Tamim H Shaikh
Purpose of Review: Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively large (>1 Mb) and often recurrent CNVs. CNVs have also been implicated in the etiology of neuropsychiatric disorders including autism and schizophrenia as well as other common complex diseases...
December 2017: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/29730177/ankyrins-roles-in-synaptic-biology-and-pathology
#14
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/29726933/genetic-landscape-of-auditory-dysfunction
#15
Michael R Bowl, S D M Brown
Over the past 25 years, human and mouse genetics research together has identified several hundred genes essential for mammalian hearing, leading to a greater understanding of the molecular mechanisms underlying auditory function. However, from the number of still as yet uncloned human deafness loci and the findings of large-scale mouse mutant screens, it is clear we are still far from identifying all of the genes critical for auditory function. In particular, while we have made great progress in understanding the genetic bases of congenital and early-onset hearing loss, we have only just begun to elaborate upon the genetic landscape of age-related hearing loss...
May 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29722793/autism-associated-16p11-2-microdeletion-impairs-prefrontal-functional-connectivity-in-mouse-and-human
#16
Alice Bertero, Adam Liska, Marco Pagani, Roberta Parolisi, Maria Esteban Masferrer, Marta Gritti, Matteo Pedrazzoli, Alberto Galbusera, Alessia Sarica, Antonio Cerasa, Mario Buffelli, Raffaella Tonini, Annalisa Buffo, Cornelius Gross, Massimo Pasqualetti, Alessandro Gozzi
Human genetic studies are rapidly identifying variants that increase risk for neurodevelopmental disorders. However, it remains unclear how specific mutations impact brain function and contribute to neuropsychiatric risk. Chromosome 16p11.2 deletion is one of the most common copy number variations in autism and related neurodevelopmental disorders. Using resting state functional MRI data from the Simons Variation in Individuals Project (VIP) database, we show that 16p11.2 deletion carriers exhibit impaired prefrontal connectivity, resulting in weaker long-range functional coupling with temporal-parietal regions...
May 2, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29719288/the-hypothalamic-pituitary-adrenal-axis-a-brief-history
#17
Walter L Miller
The hypothalamic-pituitary-adrenal (HPA) axis is central to homeostasis, stress responses, energy metabolism, and neuropsychiatric function. The history of this complex system involves discovery of the relevant glands (adrenal, pituitary, hypothalamus), hormones (cortisol, corticotropin, corticotropin-releasing hormone), and the receptors for these hormones. The adrenal and pituitary were identified by classical anatomists, but most of this history has taken place rather recently, and has involved complex chemistry, biochemistry, genetics, and clinical investigation...
May 2, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29713172/gender-specific-association-of-functional-prodynorphin-68-bp-repeats-with-cannabis-exposure-in-an-african-american-cohort
#18
Vadim Yuferov, Eduardo R Butelman, Mary Jeanne Kreek
Background: Cannabis use disorders (CUDs) cause substantial neuropsychiatric morbidity and comorbidity. There is evidence for gender-based differences in CUDs, for instance, a greater prevalence in males than in females. The main active component of cannabis is delta 9-tetrahydrocannabinol (delta 9-THC), a partial agonist of the cannabinoid type 1 receptor. Preclinical studies show that genetic or pharmacological manipulation of the kappa opioid receptor/dynorphin system modulates the effects of delta 9-THC...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29693637/paltem-what-parameters-should-be-collected-in-disaster-settings-to-assess-the-long-term-outcomes-of-famine
#19
REVIEW
Alexandra Moraru, Maria Moitinho de Almeida, Jean-Marie Degryse
Evidence suggests that nutritional status during fetal development and early life leaves an imprint on the genome, which leads to health outcomes not only on a person as an adult but also on his offspring. The purpose of this study is to bring forth an overview of the relevant parameters that need to be collected to assess the long-term and transgenerational health outcomes of famine. A literature search was conducted for the most pertinent articles on the epigenetic effects of famine. The results were compiled, synthesized and discussed with an expert in genetics for critical input and validation...
April 25, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29691979/the-bdnf-val68met-polymorphism-modulates-how-developmental-ethanol-exposure-impacts-the-hippocampus
#20
Clark W Bird, Brian C Baculis, Jacob J Mayfield, Glenna J Chavez, Tiahna Ontiveros, Dana J Paine, Aaron J Marks, Alicia L Gonzales, Dorit Ron, C Fernando Valenzuela
Prenatal exposure to alcohol causes a wide range of deficits known as Fetal Alcohol Spectrum Disorders (FASDs). Many factors determine vulnerability to developmental alcohol exposure including timing and pattern of exposure, nutrition, and genetics. Here, we characterized how a prevalent single nucleotide polymorphism in the human brain-derived neurotrophic factor (BDNF) gene (val66met) modulates FASDs severity. This polymorphism disrupts BDNF's intracellular trafficking and activity dependent secretion, and has been linked to increased incidence of neuropsychiatric disorders such as depression and anxiety...
April 24, 2018: Genes, Brain, and Behavior
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