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https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#1
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28434858/stem-cell-intrinsic-seven-up-triggered-temporal-factor-gradients-diversify-intermediate-neural-progenitors
#2
Qingzhong Ren, Ching-Po Yang, Zhiyong Liu, Ken Sugino, Kent Mok, Yisheng He, Masayoshi Ito, Aljoscha Nern, Hideo Otsuna, Tzumin Lee
Building a sizable, complex brain requires both cellular expansion and diversification. One mechanism to achieve these goals is production of multiple transiently amplifying intermediate neural progenitors (INPs) from a single neural stem cell. Like mammalian neural stem cells, Drosophila type II neuroblasts utilize INPs to produce neurons and glia. Within a given lineage, the consecutively born INPs produce morphologically distinct progeny, presumably due to differential inheritance of temporal factors. To uncover the underlying temporal fating mechanisms, we profiled type II neuroblasts' transcriptome across time...
April 10, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28430000/neuroprotective-and-regenerative-roles-of-intranasal-wnt-3a-administration-after-focal-ischemic-stroke-in-mice
#3
Zheng Zachory Wei, James Ya Zhang, Tammi M Taylor, Xiaohuan Gu, Yingying Zhao, Ling Wei
Wnt signaling is a conserved pathway involved in expansion of neural progenitors and lineage specification during development. However, the role of Wnt signaling in the post-stroke brain has not been well-elucidated. We hypothesized that Wnt-3a would play an important role for neurogenesis and brain repair. Adult male mice were subjected to a focal ischemic stroke targeting the sensorimotor cortex. Mice that received Wnt-3a (2 µg/kg/day, 1 h after stroke and once a day for the next 2 days, intranasal delivery) had reduced infarct volume compared to stroke controls...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28427858/mice-with-conditional-neurod1-knockout-display-reduced-aberrant-hippocampal-neurogenesis-but-no-change-in-epileptic-seizures
#4
Rebecca Brulet, Jingfei Zhu, Mahafuza Aktar, Jenny Hsieh, Kyung-Ok Cho
Adult neurogenesis is significantly increased in the hippocampus of rodent models of temporal lobe epilepsy (TLE). These adult-generated neurons have recently been shown to play a contributing role in the development of spontaneous recurrent seizures (SRS). In order to eventually target pro-epileptic adult neurogenesis in the clinical setting, it will be important to identify molecular players involved in the control of aberrant neurogenesis after seizures. Here, we focused on NeuroD1 (ND1), a member of the bHLH family of transcription factors previously shown to play an essential role in the differentiation and maturation of adult-generated neurons in the hippocampus...
April 18, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28418405/adenosine-a2a-receptor-and-erk-driven-impulsivity-potentiates-hippocampal-neuroblast-proliferation
#5
A Oliveros, C H Cho, A Cui, S Choi, D Lindberg, D Hinton, M-H Jang, D-S Choi
Dampened adenosine A2A receptor (A2AR) function has been implicated in addiction through enhancement of goal-directed behaviors. However, the contribution of the A2AR to the control of impulsive reward seeking remains unknown. Using mice that were exposed to differential reward of low rate (DRL) schedules during Pavlovian-conditioning, second-order schedule discrimination, and the 5-choice serial reaction time task (5-CSRTT), we demonstrate that deficits of A2AR function promote impulsive responses. Antagonism of the A2AR lowered ERK1 and ERK2 phosphorylation in the dorsal hippocampus (dHip) and potentiated impulsivity during Pavlovian-conditioning and the 5-CSRTT...
April 18, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28409305/drosophila-melanogaster-neuroblasts-a-model-for-asymmetric-stem-cell-divisions
#6
Emmanuel Gallaud, Tri Pham, Clemens Cabernard
Asymmetric cell division (ACD) is a fundamental mechanism to generate cell diversity, giving rise to daughter cells with different developmental potentials. ACD is manifested in the asymmetric segregation of proteins or mRNAs, when the two daughter cells differ in size or are endowed with different potentials to differentiate into a particular cell type (Horvitz and Herskowitz, Cell 68:237-255, 1992). Drosophila neuroblasts, the neural stem cells of the developing fly brain, are an ideal system to study ACD since this system encompasses all of these characteristics...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28409303/size-matters-how-c-elegans-asymmetric-divisions-regulate-apoptosis
#7
Jerome Teuliere, Gian Garriga
Apoptosis is a form of programmed cell death used by metazoans to eliminate abnormal cells, control cell number, and shape the development of organs. The use of the nematode Caenorhabditis elegans as a model for the study of apoptosis has led to important insights into how cells die and how their corpses are removed. Eighty percent of these apoptotic cell deaths occur during nervous system development and in daughters of neuroblasts that divide asymmetrically. Pioneering work defined a conserved apoptosis pathway that is initiated in C...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28406573/brief-report-robo1-regulates-the-migration-of-human-subventricular-zone-neural-progenitor-cells-during-development
#8
Hugo Guerrero-Cazares, Emily Lavell, Linda Chen, Paula Schiapparelli, Montserrat Lara-Velazquez, Vivian Capilla-Gonzalez, Anna Christina Clements, Gabrielle Drummond, Liron Noiman, Katrina Thaler, Anne Burke, Alfredo Quiñones-Hinojosa
Human neural progenitor cell (NPC) migration within the subventricular zone (SVZ) of the lateral ganglionic eminence is an active process throughout early brain development. The migration of human NPCs from the SVZ to the olfactory bulb during fetal stages resembles what occurs in adult rodents. As the human brain develops during infancy, this migratory stream is drastically reduced in cell number and becomes barely evident in adults. The mechanisms regulating human NPC migration are unknown. The Slit-Robo signaling pathway has been defined as a chemorepulsive cue involved in axon guidance and neuroblast migration in rodents...
April 13, 2017: Stem Cells
https://www.readbyqxmd.com/read/28404642/squeezing-out-in-a-tug-of-war-the-role-of-myosin-in-neural-stem-cell-delamination
#9
Clara Sidor, Katja Röper
Neural stem cells or neuroblasts in the Drosophila melanogaster embryo delaminate as single cells from the embryonic epidermis to give rise to the nervous system. Using this accessible system to examine the molecular mechanisms of cell ingression at a high temporal and spatial resolution, in this issue, Simões et al. (2017. J. Cell Biol. https://doi.org/10.1083/jcb.201608038) reveal that myosin-driven anisotropic junction loss and apical constriction are the main drivers of this process.
April 12, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28395088/neuropathological-hallmarks-of-brain-malformations-in-extreme-phenotypes-related-to-dync1h1-mutations
#10
Annie Laquerriere, Camille Maillard, Mara Cavallin, Françoise Chapon, Florent Marguet, Arnaud Molin, Sabine Sigaudy, Marie Blouet, Guillaume Benoist, Carla Fernandez, Karine Poirier, Jamel Chelly, Sophie Thomas, Nadia Bahi-Buisson
Dyneins play a critical role in a wide variety of cellular functions such as the movement of organelles and numerous aspects of mitosis, making it central player in neocortical neurogenesis and migration. Recently, cytoplasmic dynein-1, heavy chain-1 (DYNC1H1) mutations have been found to cause a wide spectrum of brain cortical malformations. We report on the detailed neuropathological features of brain lesions from 2 fetuses aged 36 and 22 weeks of gestation (WG), respectively, carrying de novo DYNC1H1 mutations, p...
March 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28394502/the-genome-wide-expression-effects-of-escitalopram-and-its-relationship-to-neurogenesis-hippocampal-volume-and-antidepressant-response
#11
Timothy R Powell, Tytus Murphy, Simone de Jong, Sang Hyuck Lee, Katherine E Tansey, Karen Hodgson, Rudolf Uher, Jack Price, Sandrine Thuret, Gerome Breen
Antidepressant-induced hippocampal neurogenesis (AHN) is hypothesized to contribute to increases in hippocampal volume among major depressive disorder patients after long-term treatment. Furthermore, rodent studies suggest AHN may be the cellular mechanism mediating the therapeutic benefits of antidepressants. Here, we perform the first investigation of genome-wide expression changes associated with AHN in human cells. We identify gene expression networks significantly activated during AHN, and we perform gene set analyses to probe the molecular relationship between AHN, hippocampal volume, and antidepressant response...
April 10, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28394252/steroid-hormone-induction-of-temporal-gene-expression-in-drosophila-brain-neuroblasts-generates-neuronal-and-glial-diversity
#12
Mubarak Hussain Syed, Brandon Mark, Chris Q Doe
An important question in neuroscience is how stem cells generate neuronal diversity. During Drosophila embryonic development, neural stem cells (neuroblasts) sequentially express transcription factors that generate neuronal diversity; regulation of the embryonic temporal transcription factor cascade is lineage-intrinsic. In contrast, larval neuroblasts generate longer ~50 division lineages, and currently only one mid-larval molecular transition is known: Chinmo/Imp/Lin-28+ neuroblasts transition to Syncrip+ neuroblasts...
April 10, 2017: ELife
https://www.readbyqxmd.com/read/28386216/calpastatin-overexpression-preserves-cognitive-function-following-seizures-while-maintaining-post-injury-neurogenesis
#13
Vanessa M Machado, Ana Sofia Lourenço, Cláudia Florindo, Raquel Fernandes, Caetana M Carvalho, Inês M Araújo
In the adult mammalian brain, new neurons continue to be produced throughout life in two main regions in the brain, the subgranular zone (SGZ) in the hippocampus and the subventricular zone in the walls of the lateral ventricles. Neural stem cells (NSCs) proliferate in these niches, and migrate as neuroblasts, to further differentiate in locations where new neurons are needed, either in normal or pathological conditions. However, the endogenous attempt of brain repair is not very efficient. Calpains are proteases known to be involved in neuronal damage and in cell proliferation, migration and differentiation of several cell types, though their effects on neurogenesis are not well known...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28382490/silencing-of-y-box-binding-protein-1-by-rna-interference-inhibits-proliferation-invasion-and-metastasis-and-enhances-sensitivity-to-cisplatin-through-nf-%C3%AE%C2%BAb-signaling-pathway-in-human-neuroblastoma-sh-sy5y-cells
#14
Hong Wang, Ruowen Sun, Zuofei Chi, Shuang Li, Liangchun Hao
Y-box binding protein-1 (YB-1), a member of Y-box protein family binding DNA and RNA, has been proposed as a novel marker in multiple malignant tumors and found to be associated with tumor malignancy. Neuroblastoma is an embryonal tumor arising from neuroblast cells of the autonomic nervous system, which is the most common cancer diagnosed in infants. It has been reported that YB-1 is highly expressing in various human tumors including nasopharynx, thyroid, lung, breast, colon, ovary, and prostate cancers. This study aimed to investigate the functional role of YB-1 in neuroblastoma by silencing YB-1 using RNA interference (shRNA) in neuroblastoma SH-SY5Y cells...
April 5, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28381427/the-endoplasmic-reticulum-is-partitioned-asymmetrically-during-mitosis-prior-to-cell-fate-selection-in-proneuronal-cells-in-the-early-drosophila-embryo
#15
Anthony S Eritano, Arturo Altamirano, Sarah Beyeler, Norma Gaytan, Mark Velasquez, Blake Riggs
Asymmetric cell division is the primary mechanism to generate cellular diversity and relies on the correct partitioning of cell fate determinants. However, the mechanism by which these determinants are delivered and positioned is poorly understood and the upstream signal to initiate asymmetric cell division is currently unknown. Here we report that the Endoplasmic Reticulum (ER) is asymmetrically partitioned during mitosis in epithelial cells just prior to delamination and selection of a proneural cell fate in the early Drosophila embryo...
April 5, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28377129/analysis-of-expression-of-transcription-factors-in-early-human-retina
#16
Jing Chen, Lixiang Ma, Songtao Wang, Xiaobing Wang, Yan Sun, Lu Gao, Jin Li, Guomin Zhou
The retina originates in the central nervous system. Due to its accessibility and simplicity, the retina has become an invaluable model for studying the basic mechanisms involved in development. To date, considerable knowledge regarding the interactions among genes that coordinate retinal development has been gained from extensive research in model animals. However, our understanding of retinal development in humans remains undeveloped. Here, we analyze the expression of transcription factors that are involved in the early development of the retina in human embryos at 6 to 12 weeks post-conception...
April 1, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28371199/nonsense-pathogenic-variants-in-exon-1-of-phox2b-lead-to-translational-reinitiation-in-congenital-central-hypoventilation-syndrome
#17
Jacob T Cain, Dae I Kim, Megan Quast, Winnie G Shivega, Ryan J Patrick, Chuanpit Moser, Suzanne Reuter, Myrza Perez, Angela Myers, Jill M Weimer, Kyle J Roux, Megan Landsverk
Pathogenic variants in PHOX2B lead to congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by autonomic dysregulation and hypoventilation typically presenting in the neonatal period, although a milder late-onset (LO) presentation has been reported. More than 90% of cases are caused by polyalanine repeat mutations (PARMs) in the C-terminus of the protein; however non-polyalanine repeat mutations (NPARMs) have been reported. Most NPARMs are located in exon 3 of PHOX2B and result in a more severe clinical presentation including Hirschsprung disease (HSCR) and/or peripheral neuroblastic tumors (PNTs)...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28366740/visual-input-to-the-drosophila-central-complex-by-developmentally-and-functionally-distinct-neuronal-populations
#18
Jaison Jiro Omoto, Mehmet Fatih Keleş, Bao-Chau Minh Nguyen, Cheyenne Bolanos, Jennifer Kelly Lovick, Mark Arthur Frye, Volker Hartenstein
The Drosophila central brain consists of stereotyped neural lineages, developmental-structural units of macrocircuitry formed by the sibling neurons of single progenitors called neuroblasts. We demonstrate that the lineage principle guides the connectivity and function of neurons, providing input to the central complex, a collection of neuropil compartments important for visually guided behaviors. One of these compartments is the ellipsoid body (EB), a structure formed largely by the axons of ring (R) neurons, all of which are generated by a single lineage, DALv2...
April 24, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28363972/myosin-ii-promotes-the-anisotropic-loss-of-the-apical-domain-during-drosophila-neuroblast-ingression
#19
Sérgio Simões, Youjin Oh, Michael F Z Wang, Rodrigo Fernandez-Gonzalez, Ulrich Tepass
Epithelial-mesenchymal transitions play key roles in development and cancer and entail the loss of epithelial polarity and cell adhesion. In this study, we use quantitative live imaging of ingressing neuroblasts (NBs) in Drosophila melanogaster embryos to assess apical domain loss and junctional disassembly. Ingression is independent of the Snail family of transcriptional repressors and down-regulation of Drosophila E-cadherin (DEcad) transcription. Instead, the posttranscriptionally regulated decrease in DEcad coincides with the reduction of cell contact length and depends on tension anisotropy between NBs and their neighbors...
March 31, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28350987/the-super-elongation-complex-drives-neural-stem-cell-fate-commitment
#20
Kun Liu, Dan Shen, Jingwen Shen, Shihong M Gao, Bo Li, Chouin Wong, Weidong Feng, Yan Song
Asymmetric stem cell division establishes an initial difference between a stem cell and its differentiating sibling, critical for maintaining homeostasis and preventing carcinogenesis. Yet the mechanisms that consolidate and lock in such initial fate bias remain obscure. Here, we use Drosophila neuroblasts to demonstrate that the super elongation complex (SEC) acts as an intrinsic amplifier to drive cell fate commitment. SEC is highly expressed in neuroblasts, where it promotes self-renewal by physically associating with Notch transcription activation complex and enhancing HES (hairy and E(spl)) transcription...
March 27, 2017: Developmental Cell
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