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Neurogenetics

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https://www.readbyqxmd.com/read/29449815/combinatorial-codes-and-labeled-lines-how-insects-use-olfactory-cues-to-find-and-judge-food-mates-and-oviposition-sites-in-complex-environments
#1
REVIEW
Alexander Haverkamp, Bill S Hansson, Markus Knaden
Insects, including those which provide vital ecosystems services as well as those which are devastating pests or disease vectors, locate their resources mainly based on olfaction. Understanding insect olfaction not only from a neurobiological but also from an ecological perspective is therefore crucial to balance insect control and conservation. However, among all sensory stimuli olfaction is particularly hard to grasp. Our chemical environment is made up of thousands of different compounds, which might again be detected by our nose in multiple ways...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29449625/toll-like-receptor-4-modulation-influences-human-neural-stem-cell-proliferation-and-differentiation
#2
Chiara Grasselli, Daniela Ferrari, Cristina Zalfa, Matias Soncini, Gianluigi Mazzoccoli, Fabio A Facchini, Laura Marongiu, Francesca Granucci, Massimiliano Copetti, Angelo Luigi Vescovi, Francesco Peri, Lidia De Filippis
Toll-like receptor 4 (TLR4) activation is pivotal to innate immunity and has been shown to regulate proliferation and differentiation of human neural stem cells (hNSCs) in vivo. Here we study the role of TLR4 in regulating hNSC derived from the human telencephalic-diencephalic area of the fetal brain and cultured in vitro as neurospheres in compliance with Good Manifacture Procedures (GMP) guidelines. Similar batches have been used in recent clinical trials in ALS patients. We found that TLR2 and 4 are expressed in hNSCs as well as CD14 and MD-2 co-receptors, and TLR4 expression is downregulated upon differentiation...
February 15, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29432235/genetic-diagnostics-for-neurologists
#3
Laura Silveira-Moriyama, Alex R Paciorkowski
PURPOSE OF REVIEW: This article puts advances in the field of neurogenetics into context and provides a quick review of the broad concepts necessary for current practice in neurology. RECENT FINDINGS: The exponential growth of genetic testing is due to its increased speed and decreasing cost, and it is now a routine part of the clinical care for a number of neurologic patients. In addition, phenotypic pleiotropy (mutations in the same gene causing very disparate phenotypes) and genetic heterogeneity (the same clinical phenotype resulting from mutations in different genes) are now known to exist in a number of conditions, adding an additional layer of complexity for genetic testing in these disorders...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29422285/tom-bird-one-of-the-world-s-first-experts-in-neurogenetics
#4
Tony Kirby
No abstract text is available yet for this article.
February 5, 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29415119/schizophrenia-polygenic-risk-score-predicts-mnemonic-hippocampal-activity
#5
Qiang Chen, Gianluca Ursini, Adrienne L Romer, Annchen R Knodt, Karleigh Mezeivtch, Ena Xiao, Giulio Pergola, Giuseppe Blasi, Richard E Straub, Joseph H Callicott, Karen F Berman, Ahmad R Hariri, Alessandro Bertolino, Venkata S Mattay, Daniel R Weinberger
The use of polygenic risk scores has become a practical translational approach to investigating the complex genetic architecture of schizophrenia, but the link between polygenic risk scores and pathophysiological components of this disorder has been the subject of limited research. We investigated in healthy volunteers whether schizophrenia polygenic risk score predicts hippocampal activity during simple memory encoding, which has been proposed as a risk-associated intermediate phenotype of schizophrenia. We analysed the relationship between polygenic risk scores and hippocampal activity in a discovery sample of 191 unrelated healthy volunteers from the USA and in two independent replication samples of 76 and 137 healthy unrelated participants from Europe and the USA, respectively...
February 3, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29410950/tsen54-gene-related-pontocerebellar-hypoplasia-type-2-could-mimic-dyskinetic-cerebral-palsy-with-severe-psychomotor-retardation
#6
Iliyana Hristova Pacheva, Tihomir Todorov, Ivan Ivanov, Desislava Tartova, Katerina Gaberova, Albena Todorova, Diana Dimitrova
Pontocerebellar hypoplasia (PCH) type 2 is a very rare autosomal recessive neurodegenerative disorder with prenatal onset that disrupts brain development. We present three patients (two siblings and one unrelated child) with PCH 2 linked to the most common mutation c.919G > T (p.Ala307Ser) in TSEN54 gene. The disease started soon after birth with feeding difficulties, extrapyramidal symptoms, psychomotor retardation, progressive microcephaly. Two of the patients were diagnosed with dyskinetic cerebral palsy (CP) at first...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29406573/phenotypic-characterization-of-kctd3-related-developmental-epileptic-encephalopathy
#7
E A Faqeih, M Almannai, M M Saleh, A H AlWadie, M M Samman, F S Alkuraya
The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with two pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from four consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features. Posterior fossa abnormalities (ranging from Dandy-Walker malformation to isolated hypoplasia of the cerebellar vermis) were consistently observed in addition to other variable neuroradiological abnormalities such as hydrocephalus and abnormal brain myelination...
February 6, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29399949/adaptive-behavior-in-infants-and-toddlers-with-down-syndrome-and-fragile-x-syndrome
#8
Elizabeth A Will, Kelly E Caravella, Laura J Hahn, Deborah J Fidler, Jane E Roberts
Individuals with Down syndrome (DS) experience deficits across all domains of adaptive functioning, however little is known about the emergence and age-related changes of these impairments compared to other neurogenetic disorders with similar intellectual disability impairments, such as fragile X syndrome (FXS). Adaptive behavior is key for optimal functioning in these populations. Participants aged 5-45 months comprised three age-matched groups, DS (n = 64), FXS (n = 69), and typically developing controls (TD; n = 69)...
February 5, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29399606/a-brief-introduction-to-the-neurogenetics-of-cognition-emotion-interactions
#9
Matthew A Scult, Ahmad R Hariri
Neuroscience research has demonstrated that cognition, emotion, and their dynamic interactions emerge from complex and flexible patterns of activity across distributed neural circuits. A parallel branch of research in genetics has begun to identify common variation in the human DNA sequence (i.e., genome) that may shape individual differences in cognition-emotion interactions by altering molecular and cellular pathways that modulate the activity of these neural circuits. Here we provide a brief introduction to such neurogenetics research and how it may usefully inform our understanding of the biological mechanisms through which dynamic cognition-emotion interactions emerge and, subsequently, help shape normal and abnormal behavior...
February 2018: Current Opinion in Behavioral Sciences
https://www.readbyqxmd.com/read/29396176/the-relevance-of-gene-panels-in-movement-disorders-diagnosis-a-lab-perspective
#10
REVIEW
Chiara Reale, Celeste Panteghini, Miryam Carecchio, Barbara Garavaglia
Next-Generation Sequencing (NGS) is a group of new methods that allow sequencing a variable number of known genes (targeted resequencing) or even the whole human genome (whole genome sequencing-WGS) and have contributed to an exponential genetic knowledge growth, especially in rare diseases, in the past few years. Since 2015, in the Molecular Neurogenetics Unit of Neurological Institute "Carlo Besta", some gene panels have become available to screen all the known genes associated with Movement Disorders (MD) in children and adults as a diagnostic package...
January 29, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29389947/whole-exome-sequencing-in-neurogenetic-odysseys-an-effective-cost-and-time-saving-diagnostic-approach
#11
Marta Córdoba, Sergio Alejandro Rodriguez-Quiroga, Patricia Analía Vega, Valeria Salinas, Josefina Perez-Maturo, Hernán Amartino, Cecilia Vásquez-Dusefante, Nancy Medina, Dolores González-Morón, Marcelo Andrés Kauffman
BACKGROUND: Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such as ours- a neurogeneticist led academic group serving in a low-income country-are rare. OBJECTIVES: To assess the diagnostic yield of WES in patients suspected of having a neurogenetic condition and explore the cost-effectiveness of its implementation in a research group located in an Argentinean public hospital...
2018: PloS One
https://www.readbyqxmd.com/read/29379558/effect-of-whole-exome-sequencing-in-diagnosis-of-inborn-errors-of-metabolism-and-neurogenetic-disorders
#12
REVIEW
Marjan Shakiba, Mohammad Keramatipour
Objective: Inborn errors of metabolism are complex disorders with huge variability in clinical manifestations. Decreasing cost of whole exome sequencing (WES) in recent years, made it affordable. Therefore, we witnessed an increase in using WES in diagnosis of genetic diseases, including inherited metabolic disorders. Methods: A systematic search was done in well-known databases including Medline, Google, Cochrane, and PubMed until 1 Oct 2017. We reviewed the articles addressing the use of WES in diagnosis of metabolic and neurogenetic diseases to evaluate its impact in diagnosis of these conditions...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29364507/decreased-rates-of-cerebral-protein-synthesis-measured-in-vivo-in-a-mouse-model-of-tuberous-sclerosis-complex-unexpected-consequences-of-reduced-tuberin
#13
R Michelle Saré, Tianjian Huang, Tom Burlin, Inna Loutaev, Carolyn Beebe Smith
Tuberous Sclerosis Complex (TSC) is an autosomal dominant neurogenetic disorder affecting about 1 in 6,000 people and caused by mutations in either TSC1 or TSC2. This disorder is characterized by increased activity of mammalian target of rapamycin complex 1 (mTORC1), which is involved in regulating ribosomal biogenesis and translation initiation. We measured the effects of Tsc2 haploinsufficiency (Tsc2+/- ) in three month old male mice on regional rates of cerebral protein synthesis (rCPS) by means of the in vivo L-[1-14 C]leucine method...
January 24, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29360038/foxp2-isoforms-delineate-spatiotemporal-transcriptional-networks-for-vocal-learning-in-the-zebra-finch
#14
Zachary Daniel Burkett, Nancy F Day, Todd Haswell Kimball, Caitlin M Aamodt, Jonathan B Heston, Austin T Hilliard, Xinshu Xiao, Stephanie A White
Human speech is one of the few examples of vocal learning among mammals yet ~half of avian species exhibit this ability. Its neurogenetic basis is largely unknown beyond a shared requirement for FoxP2 in both humans and zebra finches. We manipulated FoxP2 isoforms in Area X, a song-specific region of the avian striatopallidum analogous to human anterior striatum, during a critical period for song development. We delineate, for the first time, unique contributions of each isoform to vocal learning. Weighted gene coexpression network analysis of RNA-seq data revealed gene modules correlated to singing, learning, or vocal variability...
January 23, 2018: ELife
https://www.readbyqxmd.com/read/29343559/a-genetic-locus-for-paranoia
#15
Bernard Crespi, Silven Read, Iiro Salminen, Peter Hurd
The psychological effects of brain-expressed imprinted genes in humans are virtually unknown. Prader-Willi syndrome (PWS) is a neurogenetic condition mediated by genomic imprinting, which involves high rates of psychosis characterized by hallucinations and paranoia, as well as autism. Altered expression of two brain-expressed imprinted genes, MAGEL2 and NDN, mediates a suite of PWS-related phenotypes, including behaviour, in mice. We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia...
January 2018: Biology Letters
https://www.readbyqxmd.com/read/29325619/clinical-approach-to-the-patient-with-neurogenetic-disease
#16
Thomas D Bird, Corrie O Smith
Neurogenetic diseases are surprisingly common. This chapter reviews a systematic approach to the evaluation of a patient thought to have such a disease. The emphasis is on first recognizing potential clues to the diagnosis contained in the family history and presentation of symptoms. Ataxia, neuropathy, muscle weakness, dementia, epilepsy, and cognitive delay are all "reservoirs" of neurogenetic disease. A high index of suspicion for genetic causes and a thoughtful evaluation of simplex (sporadic) cases is often necessary...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325614/ethical-issues-in-neurogenetics
#17
Wendy R Uhlmann, J Scott Roberts
Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have implications for the patient's relatives and can raise ethical issues. Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic condition, and professional guidelines emphasize patients' autonomy and informed, voluntary decision making. Beneficence and nonmaleficence both need to be considered when making decisions about disclosure and nondisclosure of genetic information and test results...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325611/autosomal-recessive-cerebellar-ataxias
#18
Brent L Fogel
The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically heterogeneous disorders that can occur at any age but whose onset is typically prior to adulthood. In addition to ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. The most common of these diseases is Friedreich ataxia, caused by mutation of the frataxin gene, but recent advances in genetic analysis have greatly broadened the ever-expanding number of causative genes to over 50...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29249377/history-and-current-difficulties-in-classifying-inherited-myopathies-and-muscular-dystrophies
#19
Stéphane Mathis, Meriem Tazir, Laurent Magy, Fanny Duval, Gwendal Le Masson, Mathilde Duchesne, Philippe Couratier, Karima Ghorab, Guilhem Solé, Idoia Lacoste, Cyril Goizet, Jean-Michel Vallat
The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. Our proposal will be limited to dystrophic and non-dystrophic myopathies (excluding metabolic disorders, mitochondriopathies, and channelopathies) for which similar proposals would also be relevant. Various genes (encoding structural proteins associated with the sarcolemma, nuclear membrane proteins, and proteins involved in myofiber metabolism have now been sequenced and mutations ascribed to specific forms of inherited muscular disorders...
January 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29248021/heightened-connectivity-between-the-ventral-striatum-and-medial-prefrontal-cortex-as-a-biomarker-for-stress-related-psychopathology-understanding-interactive-effects-of-early-and-more-recent-stress
#20
Jamie L Hanson, Annchen R Knodt, Bartholomew D Brigidi, Ahmad R Hariri
BACKGROUND: The experience of childhood maltreatment is a significant risk factor for the development of depression. This risk is particularly heightened after exposure to additional, more contemporaneous stress. While behavioral evidence exists for this relation, little is known about biological correlates of these stress interactions. Identifying such correlates may provide biomarkers of risk for later depression. METHODS: Here, we leverage behavioral, experiential, and neuroimaging data from the Duke Neurogenetics Study to identify potential biomarkers of stress exposure...
December 18, 2017: Psychological Medicine
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