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Brain AND criticality

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https://www.readbyqxmd.com/read/29222831/a-review-of-structural-brain-abnormalities-in-pallister-killian-syndrome
#1
Cathryn Poulton, Gareth Baynam, Clarissa Yates, Hamid Alinejad-Rokny, Simon Williams, Helen Wright, Karen J Woodward, Soruba Sivamoorthy, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Julian Ik-Tsen Heng
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS...
December 9, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29222770/ocular-nerve-growth-factor-ngf-and-ngf-eye-drop-application-as-paradigms-to-investigate-ngf-neuroprotective-and-reparative-actions
#2
Paola Tirassa, Pamela Rosso, Angela Iannitelli
The eye is a central nervous system structure that is uniquely accessible to local treatment. Through the ocular surface, it is possible to access the retina, optic nerve, and brain. Animal models of retina degeneration or optic nerve crush could thus serve as tools to investigate whether and how factors, which are anterogradely or retrogradely transported through the optic nerve, might contribute to activate neuroprotection and eventually regeneration. Among these factors, nerve growth factor (NGF) plays a crucial role during development of the visual system, as well as during the entire life span, and in pathological conditions...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29222686/eeg-source-imaging-indices-of-cognitive-control-show-associations-with-dopamine-system-genes
#3
G McLoughlin, J Palmer, S Makeig, N Bigdely-Shamlo, T Banaschewski, M Laucht, D Brandeis
Cognitive or executive control is a critical mental ability, an important marker of mental illness, and among the most heritable of neurocognitive traits. Two candidate genes, catechol-O-methyltransferase (COMT) and DRD4, which both have a roles in the regulation of cortical dopamine, have been consistently associated with cognitive control. Here, we predicted that individuals with the COMT Met/Met allele would show improved response execution and inhibition as indexed by event-related potentials in a Go/NoGo task, while individuals with the DRD4 7-repeat allele would show impaired brain activity...
December 8, 2017: Brain Topography
https://www.readbyqxmd.com/read/29221855/toll-like-receptor-4-regulates-anxiety-like-behavior-and-darpp-32-phosphorylation
#4
T Femenia, Y Qian, T Arentsen, H Forssberg, R Diaz Heijtz
Toll-like receptors (TLRs) play a crucial role in early innate immune responses to inflammatory agents and pathogens. In the brain, some members of the TLR family are expressed in glial cells and neurons. In particular, TLR4 has been involved in learning and memory processes, stress-induced adaptations, and pathogenesis of neurodegenerative disorders. However, the role of TLR4 in emotional behaviors and their underlying mechanisms are poorly understood. In this study, we investigated the role of TLR4 in emotional and social behavior by using different behavioral approaches, and assessed potential molecular alterations in important brain areas involved in emotional responses...
December 5, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29221753/pura-the-gene-encoding-pur-alpha-member-of-an-ancient-nucleic-acid-binding-protein-family-with-mammalian-neurological-functions
#5
REVIEW
Dianne C Daniel, Edward M Johnson
The PURA gene encodes Pur-alpha, a 322 amino acid protein with repeated nucleic acid binding domains that are highly conserved from bacteria through humans. PUR genes with a single copy of this domain have been detected so far in spirochetes and bacteroides. Lower eukaryotes possess one copy of the PUR gene, whereas chordates possess 1-4 PUR family members. Human PUR genes encode Pur-alpha (Pura), Pur-beta (Purb) and two forms of Pur-gamma (Purg). Pur-alpha is a protein that binds specific DNA and RNA sequence elements...
December 5, 2017: Gene
https://www.readbyqxmd.com/read/29221210/the-molecular-classification-of-astrocytic-tumors
#6
Chen-Xue Mao, Ji-Ye Yin, Ying Zhang, Zhi-Bin Wang, Zhi-Quan Yang, Zheng-Wen He, Xiang-Min Li, Xiao-Yuan Mao, Ru-Tao Cui, Xue-Jun Li, Xi Li, Wei Zhang, Hong-Hao Zhou, Zhao-Qian Liu
Aim: This study will explore the genetic and epigenetic alterations in astrocytomas, and identify the critical molecular signatures and signaling pathways for prognosis assessment by multiplatform comprehensive analysis. Method: We performed integration analyses of incorporating DNA methylation, mRNA expression, microRNA expression, and long non-coding RNA (lncRNA) expression in 33 astrocytic tumor tissues and 9 non-tumor brain tissues. Result: We observed that 11,795 DNA methylation sites, 3,627 genes, 136 microRNAs, and 3,334 lncRNAs were significantly differential between tumors and non-tumor brain tissues, and the filtered signatures through comprehensive analysis were significantly enriched in calcium signaling pathway...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29220864/the-nature-of-catecholamine-containing-neurons-in-the-enteric-nervous-system-in-relationship-with-organogenesis-normal-human-anatomy-and-neurodegeneration
#7
G Natale, L Ryskalin, C L Busceti, F Biagioni, F Fornai
The gastrointestinal tract is provided with extrinsic and intrinsic innervation. The extrinsic innervation includes the classic vagal parasympathetic and sympathetic components, with afferent sensitive and efferent secretomotor fibers. The intrinsic innervations is represented by the enteric nervous system (ENS), which is recognized as a complex neural network controlling a variety of cell populations, including smooth muscle cells, mucosal secretory cells, endocrine cells, microvasculature, immune and inflammatory cells...
September 1, 2017: Archives Italiennes de Biologie
https://www.readbyqxmd.com/read/29220674/actb-loss-of-function-mutations-result-in-a-pleiotropic-developmental-disorder
#8
Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert, Jill Clayton-Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, Maria C Digilio, Abhijit Dixit, Matthew Edwards, Jan M Friedman, Antonio Gonzalez-Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y T Ma, Ruth McGowan, Maryse Des Medt, James O'Sullivan, Sylvie Odent, Michael J Parker, Céline Pebrel-Richard, Florence Petit, Zornitza Stark, Sylvia Stockler-Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M White, Farah R Zahir, Adrian S Woolf, Siddharth Banka
ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively. We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29218870/loss-of-function-of-neuroplasticity-related-genes-confers-risk-for-human-neurodevelopmental-disorders
#9
Milo R Smith, Benjamin S Glicksberg, Li Li, Rong Chen, Hirofumi Morishita, Joel T Dudley
High and increasing prevalence of neurodevelopmental disorders place enormous personal and economic burdens on society. Given the growing realization that the roots of neurodevelopmental disorders often lie in early childhood, there is an urgent need to identify childhood risk factors. Neurodevelopment is marked by periods of heightened experience-dependent neuroplasticity wherein neural circuitry is optimized by the environment. If these critical periods are disrupted, development of normal brain function can be permanently altered, leading to neurodevelopmental disorders...
2018: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/29218848/shank1-is-differentially-expressed-during-development-in-ca1-hippocampal-neurons-and-astrocytes
#10
Sean M Collins, Amogh P Belagodu, Samantha L Reed, Roberto Galvez
Recent studies have strongly suggested a role for the synaptic scaffolding protein SHANK1 in normal synaptic structure and signaling. Global SHANK1 knockout (SHANK1-/-) mice demonstrate reduced dendritic spine density, an immature dendritic spine phenotype and impairments in various cognitive tasks. SHANK1 overexpression is associated with increased dendritic spine size and impairments in fear conditioning. These studies suggest proper regulation of SHANK1 is crucial for appropriate synaptic structure and cognition...
December 8, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/29218765/deregulation-of-autophagy-in-postmortem-brains-of-machado-joseph-disease-patients
#11
Annie Sittler, Marie-Paule Muriel, Martina Marinello, Alexis Brice, Wilfred den Dunnen, Sandro Alves
Autophagy, the major pathway for protein turnover, is critical to maintain cellular homeostasis and has been implicated in neurodegenerative diseases. The aim of this research was to analyze the expression of autophagy markers in postmortem brains from Machado-Joseph disease (MJD) patients. The expression of autophagy markers in the cerebellum and the oculomotor nucleus from MJD patients and age-matched controls with no signs of neuropathology was inspected postmortem by immunohistochemistry (IHC) and Western blot...
December 8, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29218570/pure-correlates-of-exploration-and-exploitation-in-the-human-brain
#12
Tommy C Blanchard, Samuel J Gershman
Balancing exploration and exploitation is a fundamental problem in reinforcement learning. Previous neuroimaging studies of the exploration-exploitation dilemma could not completely disentangle these two processes, making it difficult to unambiguously identify their neural signatures. We overcome this problem using a task in which subjects can either observe (pure exploration) or bet (pure exploitation). Insula and dorsal anterior cingulate cortex showed significantly greater activity on observe trials compared to bet trials, suggesting that these regions play a role in driving exploration...
December 7, 2017: Cognitive, Affective & Behavioral Neuroscience
https://www.readbyqxmd.com/read/29218544/the-molecular-pathway-regulating-bergmann-glia-and-folia-generation-in-the-cerebellum
#13
REVIEW
Alan W Leung, James Y H Li
Evolution of complex behaviors in higher vertebrates and primates require the development of sophisticated neuronal circuitry and the expansion of brain surface area to accommodate the vast number of neuronal and glial populations. To achieve these goals, the neocortex in primates and the cerebellum in amniotes have developed specialized types of basal progenitors to aid the folding of their cortices. In the cerebellum, Bergmann glia constitute such a basal progenitor population, having a distinctive morphology and playing a critical role in cerebellar corticogenesis...
December 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/29217743/dural-arteriovenous-fistulas-a-characteristic-pattern-of-edema-and-enhancement-of-the-medulla-on-mri
#14
A Z Copelan, A Krishnan, H Marin, R Silbergleit
Medullary edema with enhancement is rarely reported at initial MR imaging in intracranial dural arteriovenous fistulas. We report a series of 5 patients with dural arteriovenous fistulas, all of whom demonstrated a characteristic pattern of central medullary edema and medullary enhancement at initial MR imaging. Cognard type V dural arteriovenous fistula, defined by drainage into the perimedullary veins and the veins surrounding the brain stem, is a rare yet well-described pathologic entity. Even more rarely reported, however, is its clinical presentation with predominantly bulbar symptoms and MR imaging findings of central medullary edema with enhancement...
December 7, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29217687/role-of-the-axon-initial-segment-in-the-control-of-spontaneous-frequency-of-nigral-dopaminergic-neurons-in-vivo
#15
Rodrigo C Meza, Luciana López-Jury, Carmen C Canavier, Pablo Henny
The spontaneous tonic discharge activity of nigral dopamine neurons plays a fundamental role in dopaminergic signaling. To investigate the role of neuronal morphology and architecture with respect to spontaneous activity in this population, we visualized the 3D structure of the axon initial segment (AIS) along with the entire somatodendritic domain of adult male mouse dopaminergic neurons, previously recorded in vivo We observed a positive correlation of the firing rate with both proximity and size of the AIS...
December 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29217500/peripheral-neuropathy-as-a-complication-of-diabetic-ketoacidosis-in-a-child-with-newly-diagnosed-diabetes-type-1-case-report
#16
Marta Baszyńska-Wilk, Marta Wysocka-Mincewicz, Anna Świercz, Jolanta Świderska, Magdalena Marszał, Mieczysław Szalecki
BACKGROUND: Neurological complications of diabetic ketoacidosis are considered to be very serious clinical problem. The most common complication is cerebral edema. However this group includes also less common syndromes such as ischemic or hemorrhagic stroke, cerebral venous and sinus thrombosis or very rare peripheral neuropathy. CASE REPORT: We present a case of 9-year old girl with new onset type 1 diabetes, diabetic ketoacidosis, cerebral edema, multifocal vasogenic brain lesions and lower limbs peripheral paresis...
December 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29217409/proteasome-phosphorylation-regulates-cocaine-induced-sensitization
#17
Frankie R Gonzales, Kristin K Howell, Lara E Dozier, Stephan G Anagnostaras, Gentry N Patrick
Repeated exposure to cocaine produces structural and functional modifications at synapses from neurons in several brain regions including the nucleus accumbens. These changes are thought to underlie cocaine-induced sensitization. The ubiquitin proteasome system plays a crucial role in the remodeling of synapses and has recently been implicated in addiction-related behavior. The ATPase Rpt6 subunit of the 26S proteasome is phosphorylated by Ca2+/calmodulin-dependent protein kinases II alpha at ser120 which is thought to regulate proteasome activity and distribution in neurons...
December 4, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29217283/insulin-mediated-synaptic-plasticity-in-the-cns-anatomical-functional-and-temporal-contexts
#18
REVIEW
Carrie R Ferrario, Lawrence P Reagan
For decades the brain was erroneously considered an insulin insensitive organ. Although gaps in our knowledge base remain, conceptual frameworks are starting to emerge to provide insight into the mechanisms through which insulin facilitates critical brain functions like metabolism, cognition, and motivated behaviors. These diverse physiological and behavioral activities highlight the region-specific activities of insulin in the CNS; that is, there is an anatomical context to the activities of insulin in the CNS...
December 4, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/29216449/apoe4-accelerates-early-seeding-of-amyloid-pathology
#19
Chia-Chen Liu, Na Zhao, Yuan Fu, Na Wang, Cynthia Linares, Chih-Wei Tsai, Guojun Bu
Accumulation and aggregation of amyloid-β (Aβ) in the brain is an initiating step in the pathogenesis of Alzheimer's disease (AD). The ε4 allele of apolipoprotein E (apoE) gene is the strongest genetic risk factor for late-onset AD. Although there is strong evidence showing that apoE4 enhances amyloid pathology, it is not clear what the critical stage(s) is during amyloid development in which apoE4 has the strongest impact. Using apoE inducible mouse models, we show that increased expression of astrocytic apoE4, but not apoE3, during the seeding stage of amyloid development enhanced amyloid deposition and neuritic dystrophy in amyloid model mice...
December 6, 2017: Neuron
https://www.readbyqxmd.com/read/29215199/neurotrophically-induced-mesenchymal-progenitor-cells-derived-from-induced-pluripotent-stem-cells-enhance-neuritogenesis-via-neurotrophin-and-cytokine-production
#20
Rachel M Brick, Aaron X Sun, Rocky S Tuan
Adult tissue-derived mesenchymal stem cells (MSCs) are known to produce a number of bioactive factors, including neurotrophic growth factors, capable of supporting and improving nerve regeneration. However, with a finite culture expansion capacity, MSCs are inherently limited in their lifespan and use. We examined here the potential utility of an alternative, mesenchymal-like cell source, derived from induced pluripotent stem cells, termed induced mesenchymal progenitor cells (MiMPCs). We found that several genes were upregulated and proteins were produced in MiMPCs that matched those previously reported for MSCs...
December 7, 2017: Stem Cells Translational Medicine
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