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Neuropsychiatric genetics

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https://www.readbyqxmd.com/read/28735012/fgwas-functional-genome-wide-association-analysis
#1
Chao Huang, Paul Thompson, Yalin Wang, Yang Yu, Jingwen Zhang, Dehan Kong, Rivka R Colen, Rebecca C Knickmeyer, Hongtu Zhu
Functional phenotypes (e.g., subcortical surface representation), which commonly arise in imaging genetic studies, have been used to detect putative genes for complexly inherited neuropsychiatric and neurodegenerative disorders. However, existing statistical methods largely ignore the functional features (e.g., functional smoothness and correlation). The aim of this paper is to develop a functional genome-wide association analysis (FGWAS) framework to efficiently carry out whole-genome analyses of functional phenotypes...
July 19, 2017: NeuroImage
https://www.readbyqxmd.com/read/28733355/erk-mapk-signaling-is-required-for-pathway-specific-striatal-motor-functions
#2
Scott R Hutton, James M Otis, Erin M Kim, Yashna Lamsal, Garret D Stuber, William D Snider
The ERK/MAPK intracellular signaling pathway is hypothesized to be a key regulator of striatal activity via modulation of synaptic plasticity and gene transcription. However, prior investigations into striatal ERK/MAPK functions have yielded conflicting results. Further, these studies have not delineated the cell type-specific roles of ERK/MAPK signaling due to the reliance on globally-administered pharmacological ERK/MAPK inhibitors and the use of genetic models that only partially reduce total ERK/MAPK activity...
July 21, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28731911/expert-and-self-assessment-of-lifetime-symptoms-and-diagnosis-of-major-depressive-disorder-in-large-scale-genetic-studies-in-the-general-population-comparison-of-a-clinical-interview-and-a-self-administered-checklist
#3
Jessica Martin, Fabian Streit, Jens Treutlein, Maren Lang, Josef Frank, Andreas J Forstner, Franziska Degenhardt, Stephanie H Witt, Thomas G Schulze, Sven Cichon, Markus M Nöthen, Marcella Rietschel, Jana Strohmaier
Major depression disorder (MDD) is a complex neuropsychiatric disorder and an increasing number of genetic risk variants are being identified. Investigation of their influence in the general population requires accurate and efficient assessment of depressive symptoms. Here, clinical interviews conducted by clinicians are the gold standard. We investigated whether valid and reliable clinical phenotypes can be obtained efficiently using self-administered instruments. Lifetime depressive symptoms and lifetime MDD diagnosis were assessed in 464 population-based individuals using a clinical interview and a structured, self-administered checklist...
July 20, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28722101/-gilles-de-la-tourette-syndrome-symptoms-causes-and-therapy
#4
Ewgeni Jakubovski, Kirsten R Müller-Vahl
Gilles de la Tourette syndrome is a chronic neuropsychiatric movement disease with combined motor tics and at least one vocal tic for a minimum period of 1 year. It typically begins in the childhood (under 18 years of age).Most of the patients with Tourette syndrome have comorbidities, which often impair their quality of life more than the tics themselves.There are reported abnormalities in the cortico-striato-thalamo-cortical regions as well as in the neurotransmission of dopamine and other neurotransmission systems...
June 2017: Psychotherapie, Psychosomatik, Medizinische Psychologie
https://www.readbyqxmd.com/read/28720532/lipoid-proteinosis-a-clinical-and-molecular-study-in-egyptian-patients
#5
Hanan H Afifi, Khalda S Amr, Angie M S Tosson, Tarak A Hassan, Mennat I Mehrez, Ghada Y El-Kamah
Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Extraction of DNA samples of the 12 patients and their parents from peripheral blood by standard methods was performed. Polymerase chain reaction (PCR) amplification of the ECM1 gene was conducted using eight pairs of primers spanning over the 10 exons and splice junctions...
July 15, 2017: Gene
https://www.readbyqxmd.com/read/28703946/prevalence-severity-and-correlates-of-premenstrual-dysphoric-disorder-symptoms-among-women-in-the-arabian-peninsula
#6
Ossama T Osman, Sufyan Sabri, Taoufik Zoubeidi, Amal I Alharbi, Diaa Rizk, Hassib Narchi, Abdul-Kader Souid
Objective: To study the prevalence of premenstrual dysphoric disorder (PMDD) symptom patterns among women in the United Arab Emirates and to measure the debilitating nature of PMDD symptoms and sociodemographic correlates. Methods: This cross-sectional sample study used the Mini-International Neuropsychiatric Interview-Plus (MINI-Plus) and Premenstrual Symptoms Screening Tool (PSST) to screen for presence and severity of PMDD symptoms in Arab women attending ambulatory health services in Alain city, Emirate of Abu Dhabi, United Arab Emirates, for routine health care between May 2005 and September 2005...
July 6, 2017: Primary Care Companion to CNS Disorders
https://www.readbyqxmd.com/read/28700181/-hyperuricemia-and-gene-mutations-a-case-report
#7
Fabio Tattoli, Daniela Falconi, Ornella De Prisco, Gherzi Maurizio, Federico Marazzi, Marita Marengo, Ilaria Serra, Michela Tamagnone, Luca Cordero di Montezemolo, Barbara Pasini, Marco Formica
Hyperuricemia is frequently found in nephrology. The case presented may be useful to clarify some pathogenetic aspects. It is a patient of 18 years, hyperuricaemic. Non-consanguineous parents, hyperuricemia in the paternal line, not neuropsychiatric disorders in the family. Delay in neuromotor acquisitions, average intellectual disabilities, anxiety disorder, obsessive-compulsive personality traits. Normal renal function and renal ultrasound. Evidence of hyperuricemia in 2015. Never gouty episodes and / or lithiasis, initiated allopurinol 100 mg on alternate days, with no side effects, urea in the control range, slightly below normal uricuria...
June 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28700108/gpr88-in-a2a-receptor-expressing-neurons-modulates-locomotor-response-to-dopamine-agonists-but-not-sensorimotor-gating
#8
A C Meirsman, A de Kerchove d'Exaerde, B L Kieffer, A M Ouagazzal
The orphan receptor, GPR88, is emerging as a key player in the pathophysiology of several neuropsychiatric diseases, including psychotic disorders. Knockout (KO) mice lacking GPR88 throughout the brain exhibit many abnormalities relevant to schizophrenia including locomotor hyperactivity, behavioral hypersensitivity to dopaminergic psychostimulants and deficient sensorimotor gating. Here, we used conditional knockout (cKO) mice lacking GPR88 selectively in striatal medium spiny neurons expressing A2A receptor to determine neuronal circuits underlying these phenotypes...
July 12, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28697889/somatostatin-positive-gamma-aminobutyric-acid-interneuron-deficits-in-depression-cortical-microcircuit-and-therapeutic-perspectives
#9
REVIEW
Corey Fee, Mounira Banasr, Etienne Sibille
The functional integration of external and internal signals forms the basis of information processing and is essential for higher cognitive functions. This occurs in finely tuned cortical microcircuits whose functions are balanced at the cellular level by excitatory glutamatergic pyramidal neurons and inhibitory gamma-aminobutyric acidergic (GABAergic) interneurons. The balance of excitation and inhibition, from cellular processes to neural network activity, is characteristically disrupted in multiple neuropsychiatric disorders, including major depressive disorder (MDD), bipolar disorder, anxiety disorders, and schizophrenia...
June 8, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28696507/the-impact-of-epigenomic-next-generation-sequencing-approaches-on-our-understanding-of-neuropsychiatric-disorders
#10
REVIEW
Anne-Laure Schang, Délara Sabéran-Djoneidi, Valérie Mezger
Patients suffering from psychiatric disorders have a life span burden, which represents an enormous human, family, social, and economical cost. Several concepts have revolutionized our way of appraising neuropsychiatric disorders (NPDs). They result from a combination of genetic factors and environmental insults, and their etiology finds roots in the neurodevelopmental period. As epigenetic mechanisms tightly control brain development, exposure to adverse conditions disturbing the epigenetic landscape of the fetal brain increases the risk of developing NPDs, due to the persistence of abnormal epigenetic signatures, at distance from the initial stimulus...
July 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28696432/cross-disorder-risk-gene-cacna1c-differentially-modulates-susceptibility-to-psychiatric-disorders-during-development-and-adulthood
#11
N Dedic, M L Pöhlmann, J S Richter, D Mehta, D Czamara, M W Metzger, J Dine, B T Bedenk, J Hartmann, K V Wagner, A Jurik, L M Almli, A Lori, S Moosmang, F Hofmann, C T Wotjak, G Rammes, M Eder, A Chen, K J Ressler, W Wurst, M V Schmidt, E B Binder, J M Deussing
Single-nucleotide polymorphisms (SNPs) in CACNA1C, the α1C subunit of the voltage-gated L-type calcium channel Cav1.2, rank among the most consistent and replicable genetics findings in psychiatry and have been associated with schizophrenia, bipolar disorder and major depression. However, genetic variants of complex diseases often only confer a marginal increase in disease risk, which is additionally influenced by the environment. Here we show that embryonic deletion of Cacna1c in forebrain glutamatergic neurons promotes the manifestation of endophenotypes related to psychiatric disorders including cognitive decline, impaired synaptic plasticity, reduced sociability, hyperactivity and increased anxiety...
July 11, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28696057/optimizing-the-chances-of-success-in-the-search-for-epigenetic-biomarkers-embracing-genetic-variation
#12
REVIEW
Robert Philibert, Stephen J Glatt
The emphasis on clinical translation in biomedical research continues to grow. This focus has been particularly notable in those investigators using epigenetic approaches to decipher the biology of complex behavioral disorders. As a result of these efforts, reproducible findings for several disorders, such as smoking, have been generated, giving rise to hopes that biomarkers for other behavioral illnesses would be forthcoming. Unfortunately, that biomedical cornucopia has not yet materialized. In this editorial, we review progress to date and discuss barriers to generating epigenetic biomarkers for complex behavioral disorders...
July 11, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28695690/cerebral-vasospasm-in-acute-porphyria
#13
P Olivier, D Van Melkebeke, P-J Honoré, L Defreyne, D Hemelsoet
BACKGROUND AND PURPOSE: Porphyrias are a group of inherited metabolic disorders resulting from a specific deficiency along the pathway of haem biosynthesis. A clinical classification distinguishes acute from non-acute porphyrias considering the occurrence of life-threatening neurovisceral attacks, presenting with abdominal pain, neuropsychiatric disturbance and neuropathy. Vasospasm is a very rare complication that can occur in all major types of acute porphyria. METHODS: We describe a porphyric crisis with vasospasm in a woman with previously undiagnosed acute porphyria...
July 10, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28695538/fgf9-y162c-mutation-alters-information-processing-and-social-memory-in-mice
#14
Lillian Garrett, Lore Becker, Jan Rozman, Oliver Puk, Tobias Stoeger, Ali Önder Yildirim, Alexander Bohla, Oliver Eickelberg, Wolfgang Hans, Cornelia Prehn, Jerzy Adamski, Thomas Klopstock, Ildikó Rácz, Andreas Zimmer, Martin Klingenspor, Helmut Fuchs, Valerie Gailus-Durner, Wolfgang Wurst, Martin Hrabě de Angelis, Jochen Graw, Sabine M Hölter
In neuropsychiatric diseases, such as major depression and anxiety, pathogenic vulnerability is partially dictated by a genetic predisposition. The search continues to define this genetic susceptibility and establish new genetic elements as potential therapeutic targets. The fibroblast growth factors (FGFs) could be interesting in this regard. This family of signaling molecules plays important roles in development while also functioning within the adult. This includes effects on aspects of brain function such as neurogenesis and synapse formation...
July 10, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28689190/intermediate-c9orf72-alleles-in-neurological-disorders-does-size-really-matter
#15
REVIEW
Adeline S L Ng, Eng-King Tan
C9orf72 repeat expansions is a major cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. Sizes of <20 hexanucleotide repeats are observed in controls, while up to thousands associate with disease. Intermediate C9orf72 repeat lengths, however, remain uncertain. We systematically reviewed the role of intermediate C9orf72 alleles in C9orf72-related neurological disorders. We identified 49 studies with adequate available data on normal or intermediate C9orf72 repeat length, involving subjects with FTD, ALS, Parkinson's disease (PD), atypical parkinsonism, Alzheimer's disease (AD) and other aetiologies...
July 8, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28680393/potential-value-of-genomic-copy-number-variations-in-schizophrenia
#16
REVIEW
Chuanjun Zhuo, Weihong Hou, Chongguang Lin, Lirong Hu, Jie Li
Schizophrenia is a devastating neuropsychiatric disorder affecting approximately 1% of the global population, and the disease has imposed a considerable burden on families and society. Although, the exact cause of schizophrenia remains unknown, several lines of scientific evidence have revealed that genetic variants are strongly correlated with the development and early onset of the disease. In fact, the heritability among patients suffering from schizophrenia is as high as 80%. Genomic copy number variations (CNVs) are one of the main forms of genomic variations, ubiquitously occurring in the human genome...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28671648/acute-in-vivo-electrophysiological-recordings-of-local-field-potentials-and-multi-unit-activity-from-the-hyperdirect-pathway-in-anesthetized-rats
#17
Jens K Haumesser, Johanna Kühn, Christopher Güttler, Dieu-Huong Nguyen, Maximilian H Beck, Andrea A Kühn, Christoph van Riesen
Converging evidence shows that many neuropsychiatric diseases should be understood as disorders of large-scale neuronal networks. To better understand the pathophysiological basis of these diseases, it is necessary to precisely characterize in which way the processing of information is disturbed between the different neuronal parts of the circuit. Using extracellular in vivo electrophysiological recordings, it is possible to accurately delineate neuronal activity within a neuronal network. The application of this method has several advantages over alternative techniques, e...
June 22, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28671236/vitamin-b-supplementation-what-s-the-right-choice-for-your-patients
#18
Laura G Leahy
As many patients turn to vitamins and supplements to enhance energy, relieve fatigue, or generally feel better, it is important to understand the connection between the B vitamins and psychiatric symptomatology. Vitamins B6, B8, and B12 have been shown not only to reduce psychiatric symptoms but also shorten the duration of illness. Vitamin B9, also known as folate or folic acid, has also been associated with psychiatric symptoms. However, when patients lack a specific genetic enzyme, which converts folate/folic acid to its most usable form, L-methylfolate, the neuroprotective and neuropsychiatric benefits are lost...
July 1, 2017: Journal of Psychosocial Nursing and Mental Health Services
https://www.readbyqxmd.com/read/28667702/tuberous-sclerosis-complex-recent-advances-in-manifestations-and-therapy
#19
REVIEW
Mari Wataya-Kaneda, Motohide Uemura, Kazutoshi Fujita, Haruhiko Hirata, Keigo Osuga, Kuriko Kagitani-Shimono, Norio Nonomura
Tuberous sclerosis complex is an autosomal dominant inherited disorder characterized by generalized involvement and variable manifestations with a birth incidence of 1:6000. In a quarter of a century, significant progress in tuberous sclerosis complex has been made. Two responsible genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively, were discovered in the 1990s, and their functions were elucidated in the 2000s. Hamartin-Tuberin complex is involved in the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin signal transduction pathway, and suppresses mammalian target of rapamycin complex 1 activity, which is a center for various functions...
July 1, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28666362/inference-of-causative-genes-for-alzheimer-s-disease-due-to-dosage-imbalance
#20
Mizuka Sekine, Takashi Makino
Copy number variations (CNVs) have recently drawn attention as an important genetic factor for diseases, especially common neuropsychiatric disorders including Alzheimer's disease (AD). Because most of the pathogenic CNV regions overlap with multiple genes, it has been challenging to identify the true disease-causing genes amongst them. Notably, a recent study reported that CNV regions containing ohnologs, which are dosage-sensitive genes, are likely to be deleterious. Utilizing the unique feature of ohnologs could be useful for identifying causative genes with pathogenic CNVs, however its effectiveness is still unclear...
June 27, 2017: Molecular Biology and Evolution
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